#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
ABCB4	5244	genome.wustl.edu	37	7	87032462	87032462	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:87032462C>T	ENST00000265723.4	-	27	3754	c.3643G>A	c.(3643-3645)Gaa>Aaa	p.E1215K	ABCB4_ENST00000545634.1_Missense_Mutation_p.E1208K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1161K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1161K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1208K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1215	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.E1208K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTTTCACTTTCAGTATCCAGA	0.428																																																	1	Substitution - Missense(1)	lung(1)											155.0	139.0	144.0					7																	87032462		2203	4300	6503	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3643G>A	7.37:g.87032462C>T	ENSP00000265723:p.Glu1215Lys		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E1215K	ENST00000265723.4	37	c.3643	CCDS5606.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538401	0.85917	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	5.41	4.51	0.55191	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050039	0.85682	D	0.000000	D	0.85995	0.5827	L	0.35341	1.055	0.80722	D	1	D;P;P	0.56746	0.977;0.919;0.867	P;P;P	0.55749	0.661;0.783;0.611	D	0.87922	0.2704	10	0.87932	D	0	-18.0621	16.3596	0.83257	0.0:0.8679:0.1321:0.0	.	1161;1208;1215	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	K	1208;1161;1215;1161;1208	ENSP00000352135:E1208K;ENSP00000351172:E1161K;ENSP00000265723:E1215K;ENSP00000392983:E1161K;ENSP00000437465:E1208K	ENSP00000265723:E1215K	E	-	1	0	ABCB4	86870398	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	6.026000	0.70873	1.372000	0.46190	0.561000	0.74099	GAA	ABCB4	-	pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	C	NM_000443		87032462	-1	no_errors	ENST00000265723	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCC3	8714	genome.wustl.edu	37	17	48738374	48738374	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:48738374C>G	ENST00000285238.8	+	8	977	c.897C>G	c.(895-897)ttC>ttG	p.F299L	ABCC3_ENST00000427699.1_Missense_Mutation_p.F299L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	299					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	AGCCCTCCTTCCTGAAGGCCC	0.622																																																	0													47.0	41.0	43.0					17																	48738374		2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.897C>G	17.37:g.48738374C>G	ENSP00000285238:p.Phe299Leu		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	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.F299L	ENST00000285238.8	37	c.897	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	3.917	-0.018952	0.07681	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.85955	-1.8;-2.05	5.18	0.368	0.16146	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	N	0.11313	0.125	0.54753	D	0.999985	P;B	0.45044	0.849;0.006	B;B	0.43082	0.407;0.01	T	0.66720	-0.5852	10	0.02654	T	1	-13.5874	10.5613	0.45146	0.0:0.5889:0.0:0.4111	.	299;299	O15438;O15438-5	MRP3_HUMAN;.	L	299	ENSP00000395160:F299L;ENSP00000285238:F299L	ENSP00000285238:F299L	F	+	3	2	ABCC3	46093373	0.964000	0.33143	0.695000	0.30226	0.040000	0.13550	0.161000	0.16481	0.195000	0.20347	0.491000	0.48974	TTC	ABCC3	-	superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc		0.622	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48738374	+1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	0.998	G
ABCC3	8714	genome.wustl.edu	37	17	48738473	48738473	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:48738473C>G	ENST00000285238.8	+	8	1076	c.996C>G	c.(994-996)ctC>ctG	p.L332L	ABCC3_ENST00000427699.1_Silent_p.L332L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	332	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CACAGCTGCTCAGGTCTCTCC	0.587																																																	0													66.0	56.0	60.0					17																	48738473		2203	4300	6503	SO:0001819	synonymous_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.996C>G	17.37:g.48738473C>G			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	NULL	p.Q351E	ENST00000285238.8	37	c.1051	CCDS32681.1	17																																																																																			ABCC3	-	NULL		0.587	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48738473	+1	no_errors	ENST00000502426	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCC3	8714	genome.wustl.edu	37	17	48745145	48745145	+	Intron	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:48745145C>T	ENST00000285238.8	+	12	1715				ABCC3_ENST00000427699.1_Silent_p.P554P	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GGCTGGGTCCCTGCCTCCAGG	0.657																																																	0													45.0	44.0	44.0					17																	48745145		2203	4300	6503	SO:0001627	intron_variant	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1635+27C>T	17.37:g.48745145C>T			B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	p.P554	ENST00000285238.8	37	c.1662	CCDS32681.1	17																																																																																			ABCC3	-	NULL		0.657	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48745145	+1	no_errors	ENST00000427699	ensembl	human	known	70_37	silent	SNP	0.000	T
ABCD1	215	genome.wustl.edu	37	X	152995018	152995018	+	Intron	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:152995018G>A	ENST00000218104.3	+	2	1480				ABCD1_ENST00000370129.4_Missense_Mutation_p.R226K	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1						alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATGCTTTCAGAGGTTGAGCT	0.647																																																	0																																										SO:0001627	intron_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1081+151G>A	X.37:g.152995018G>A			Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N	p.R226K	ENST00000218104.3	37	c.677	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	g	8.468	0.856790	0.17106	.	.	ENSG00000101986	ENST00000370129	D	0.99353	-5.77	2.91	-1.13	0.09775	.	.	.	.	.	D	0.96753	0.8940	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.94169	0.7421	5	.	.	.	.	2.6979	0.05140	0.4129:0.0:0.3742:0.213	.	.	.	.	K	226	ENSP00000359147:R226K	.	R	+	2	0	ABCD1	152648212	0.001000	0.12720	0.000000	0.03702	0.082000	0.17680	0.317000	0.19487	-0.438000	0.07232	0.525000	0.51046	AGA	ABCD1	-	NULL		0.647	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	G	NM_000033		152995018	+1	no_errors	ENST00000370129	ensembl	human	known	70_37	missense	SNP	0.000	A
ACACA	31	genome.wustl.edu	37	17	35453990	35453990	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:35453990C>G	ENST00000394406.2	-	54	6911	c.6721G>C	c.(6721-6723)Gat>Cat	p.D2241H	ACACA_ENST00000361253.5_Missense_Mutation_p.D367H|ACACA_ENST00000353139.5_Missense_Mutation_p.D2278H|ACACA_ENST00000335166.5_Missense_Mutation_p.D2163H|ACACA_ENST00000360679.3_Missense_Mutation_p.D2183H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2241					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTGGCCATCAGTCAGCTCA	0.507																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)												0													193.0	167.0	176.0					17																	35453990		2203	4300	6503	SO:0001583	missense	31			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6721G>C	17.37:g.35453990C>G	ENSP00000377928:p.Asp2241His		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.D2278H	ENST00000394406.2	37	c.6832	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	12.00	1.805504	0.31961	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	N	0.04994	-0.135	0.80722	D	1	B;B;B;B;B	0.13145	0.002;0.007;0.004;0.0;0.0	B;B;B;B;B	0.17098	0.003;0.011;0.017;0.003;0.007	T	0.13415	-1.0510	10	0.13108	T	0.6	-19.4033	20.2033	0.98269	0.0:1.0:0.0:0.0	.	279;940;2278;2241;2183	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	H	2278;2183;2241;2265;2163;940;367	ENSP00000344789:D2278H;ENSP00000353898:D2183H;ENSP00000377928:D2241H;ENSP00000335323:D2163H;ENSP00000354565:D367H	ENSP00000335323:D2163H	D	-	1	0	ACACA	32528103	1.000000	0.71417	0.057000	0.19452	0.923000	0.55619	6.087000	0.71362	2.779000	0.95612	0.655000	0.94253	GAT	ACACA	-	NULL		0.507	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	C	NM_198836		35453990	-1	no_errors	ENST00000353139	ensembl	human	known	70_37	missense	SNP	0.001	G
ACTR1A	10121	genome.wustl.edu	37	10	104243919	104243919	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:104243919C>G	ENST00000369905.4	-	6	718	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q	ACTR1A_ENST00000446605.2_Missense_Mutation_p.E172Q|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E219Q|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000470322.1_5'Flank|ACTR1A_ENST00000545684.1_Missense_Mutation_p.E145Q	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	219					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCACTTACTTCTTTTATGGCC	0.597																																																	0													78.0	74.0	75.0					10																	104243919		2203	4300	6503	SO:0001583	missense	10121			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.655G>C	10.37:g.104243919C>G	ENSP00000358921:p.Glu219Gln		B2R6B0|P42024	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E219Q	ENST00000369905.4	37	c.655	CCDS7536.1	10	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911194	0.92178	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.96200	-3.94;-3.94;-3.94	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.98118	0.9379	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99010	1.0814	10	0.87932	D	0	.	18.9645	0.92691	0.0:1.0:0.0:0.0	.	219	P61163	ACTZ_HUMAN	Q	219;145;172	ENSP00000358921:E219Q;ENSP00000438890:E145Q;ENSP00000406028:E172Q	ENSP00000358921:E219Q	E	-	1	0	ACTR1A	104233909	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.666000	0.83877	2.500000	0.84329	0.561000	0.74099	GAA	ACTR1A	-	pfam_Actin-like,smart_Actin-like		0.597	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1A	HGNC	protein_coding	OTTHUMT00000050053.1	C			104243919	-1	no_errors	ENST00000369905	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAM7	8756	genome.wustl.edu	37	8	24324484	24324484	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:24324484G>A	ENST00000175238.6	+	6	645	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	ADAM7_ENST00000441335.2_Missense_Mutation_p.E188K|ADAM7_ENST00000380789.1_Missense_Mutation_p.E188K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAATCTGAAGAAGACTCCAA	0.358																																																	0													71.0	77.0	75.0					8																	24324484		2203	4300	6503	SO:0001583	missense	8756			AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.562G>A	8.37:g.24324484G>A	ENSP00000175238:p.Glu188Lys		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.E188K	ENST00000175238.6	37	c.562	CCDS6045.1	8	.	.	.	.	.	.	.	.	.	.	G	2.383	-0.341723	0.05243	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.27720	2.2;1.65;1.65	4.51	1.54	0.23209	.	0.990647	0.08202	N	0.982123	T	0.15869	0.0382	N	0.24115	0.695	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.33548	-0.9864	10	0.06757	T	0.87	.	4.1638	0.10296	0.2206:0.1903:0.5891:0.0	.	188;188	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	K	188	ENSP00000393073:E188K;ENSP00000175238:E188K;ENSP00000370166:E188K	ENSP00000175238:E188K	E	+	1	0	ADAM7	24380374	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.532000	0.23067	0.332000	0.23536	0.563000	0.77884	GAA	ADAM7	-	NULL		0.358	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM7	HGNC	protein_coding	OTTHUMT00000215150.1	G	NM_003817		24324484	+1	no_errors	ENST00000175238	ensembl	human	known	70_37	missense	SNP	0.000	A
ADAMTSL1	92949	genome.wustl.edu	37	9	18574130	18574130	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:18574130G>A	ENST00000380548.4	+	4	679	c.340G>A	c.(340-342)Gac>Aac	p.D114N	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.D114N|MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.D114N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.D114N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.D114N|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.D114N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	114						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTGTCTAATGACCCTGACAA	0.483																																																	0													173.0	150.0	157.0					9																	18574130		2203	4300	6503	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.340G>A	9.37:g.18574130G>A	ENSP00000369921:p.Asp114Asn		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.D114N	ENST00000380548.4	37	c.340	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.436471	0.96168	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.59083	3.9;0.29;0.29;0.29;0.29;0.29	5.25	5.25	0.73442	.	.	.	.	.	T	0.75191	0.3816	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.69307	0.963;0.96	T	0.72014	-0.4418	9	0.29301	T	0.29	.	19.2077	0.93739	0.0:0.0:1.0:0.0	.	114;114	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	N	114	ENSP00000369921:D114N;ENSP00000327887:D114N;ENSP00000401157:D114N;ENSP00000369944:D114N;ENSP00000369940:D114N;ENSP00000276935:D114N	ENSP00000276935:D114N	D	+	1	0	ADAMTSL1	18564130	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	9.710000	0.98732	2.620000	0.88729	0.643000	0.83706	GAC	ADAMTSL1	-	NULL		0.483	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18574130	+1	no_errors	ENST00000327883	ensembl	human	known	70_37	missense	SNP	1.000	A
ADARB2	105	genome.wustl.edu	37	10	1246280	1246280	+	Intron	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:1246280G>A	ENST00000381312.1	-	8	2008				ADARB2_ENST00000381305.1_5'UTR|ADARB2_ENST00000381310.3_Missense_Mutation_p.P6L	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCTGGGACTGGGCTCCACAG	0.547																																																	0																																										SO:0001627	intron_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1683-193C>T	10.37:g.1246280G>A			B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	p.P6L	ENST00000381312.1	37	c.17	CCDS7058.1	10	.	.	.	.	.	.	.	.	.	.	G	3.573	-0.087130	0.07097	.	.	ENSG00000185736	ENST00000381310	T	0.50277	0.75	4.13	-0.483	0.12075	.	.	.	.	.	T	0.28797	0.0714	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	8	0.87932	D	0	.	0.5443	0.00651	0.2545:0.1894:0.3619:0.1942	.	6	Q5VW42	.	L	6	ENSP00000370711:P6L	ENSP00000370711:P6L	P	-	2	0	ADARB2	1236280	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.235000	0.09016	0.305000	0.22832	-0.181000	0.13052	CCA	ADARB2	-	smart_A_deamin		0.547	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2	HGNC	protein_coding	OTTHUMT00000046426.1	G	NM_018702		1246280	-1	no_errors	ENST00000381310	ensembl	human	known	70_37	missense	SNP	0.000	A
ADCY9	115	genome.wustl.edu	37	16	4163953	4163953	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:4163953G>A	ENST00000294016.3	-	2	2029	c.1491C>T	c.(1489-1491)tgC>tgT	p.C497C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	497	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGGATGCCGCAAAGGACGG	0.562																																																	0													122.0	126.0	125.0					16																	4163953		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1491C>T	16.37:g.4163953G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.C497	ENST00000294016.3	37	c.1491	CCDS32382.1	16																																																																																			ADCY9	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.562	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY9	HGNC	protein_coding	OTTHUMT00000438076.1	G			4163953	-1	no_errors	ENST00000294016	ensembl	human	known	70_37	silent	SNP	0.993	A
AGXT	189	genome.wustl.edu	37	2	241808657	241808657	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:241808657C>G	ENST00000307503.3	+	2	623	c.236C>G	c.(235-237)tCt>tGt	p.S79C		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	79					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	CTGGTCATCTCTGGCTCGGGA	0.607																																																	0													149.0	121.0	130.0					2																	241808657		2203	4300	6503	SO:0001583	missense	189			D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.236C>G	2.37:g.241808657C>G	ENSP00000302620:p.Ser79Cys		Q53QU6	Missense_Mutation	SNP	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S79C	ENST00000307503.3	37	c.236	CCDS2543.1	2	.	.	.	.	.	.	.	.	.	.	C	11.26	1.587706	0.28268	.	.	ENSG00000172482	ENST00000307503	D	0.89415	-2.51	4.27	2.26	0.28386	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.174321	0.64402	D	0.000009	D	0.92948	0.7756	M	0.90595	3.13	0.58432	D	0.999999	P;P	0.38617	0.64;0.632	P;P	0.48571	0.467;0.582	D	0.93787	0.7089	10	0.66056	D	0.02	-20.9273	13.7864	0.63112	0.0:0.2983:0.7017:0.0	.	79;79	B7Z548;P21549	.;SPYA_HUMAN	C	79	ENSP00000302620:S79C	ENSP00000302620:S79C	S	+	2	0	AGXT	241457330	1.000000	0.71417	0.955000	0.39395	0.329000	0.28539	6.014000	0.70784	0.913000	0.36797	-0.226000	0.12346	TCT	AGXT	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.607	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT	HGNC	protein_coding	OTTHUMT00000257186.1	C	NM_000030		241808657	+1	no_errors	ENST00000307503	ensembl	human	known	70_37	missense	SNP	1.000	G
AIRE	326	genome.wustl.edu	37	21	45711046	45711046	+	Silent	SNP	G	G	T	rs145274715		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:45711046G>T	ENST00000291582.5	+	8	1075	c.948G>T	c.(946-948)cgG>cgT	p.R316R	AIRE_ENST00000329347.4_Silent_p.R109R|AIRE_ENST00000355347.4_Silent_p.R109R	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	316					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCTGCCCTCGGGCCTTCCACC	0.682									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																																								0													52.0	41.0	45.0					21																	45711046		2203	4298	6501	SO:0001819	synonymous_variant	326	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.948G>T	21.37:g.45711046G>T			B2RP50|O43922|O43932|O75745	Silent	SNP	pfam_Sp100,pfam_Znf_PHD-finger,pfam_SAND_dom,superfamily_Znf_FYVE_PHD,superfamily_SAND_dom-like,smart_SAND_dom,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_SAND_dom,prints_AIRE	p.R316	ENST00000291582.5	37	c.948	CCDS13706.1	21																																																																																			AIRE	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.682	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIRE	HGNC	protein_coding	OTTHUMT00000195842.2	G			45711046	+1	no_errors	ENST00000291582	ensembl	human	known	70_37	silent	SNP	0.779	T
AK3	50808	genome.wustl.edu	37	9	4741035	4741035	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:4741035G>C	ENST00000381809.3	-	1	283	c.53C>G	c.(52-54)tCg>tGg	p.S18W	AK3_ENST00000447596.4_Missense_Mutation_p.S18W|AK3_ENST00000359883.2_Intron	NM_016282.3	NP_057366.2	P27144	KAD4_HUMAN	adenylate kinase 3	16					ADP biosynthetic process (GO:0006172)|AMP metabolic process (GO:0046033)|ATP metabolic process (GO:0046034)|brain development (GO:0007420)|GTP metabolic process (GO:0046039)|liver development (GO:0001889)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|response to drug (GO:0042493)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside triphosphate adenylate kinase activity (GO:0046899)			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)	Adefovir Dipivoxil(DB00718)|Tenofovir(DB00300)	GCCCTTGCCCGAGCCCGGGGC	0.706																																																	0													21.0	19.0	20.0					9																	4741035		2196	4291	6487	SO:0001583	missense	50808			BC013771	CCDS6455.1, CCDS56561.1, CCDS56562.1	9p24.1	2010-09-29	2004-06-11	2005-04-07	ENSG00000147853	ENSG00000147853			17376	protein-coding gene	gene with protein product		609290	"""adenylate kinase 6"", ""adenylate kinase 3 like 1"""	AK6, AK3L1		8288, 182062	Standard	NM_001199852		Approved	AKL3L1	uc003ziq.2	Q9UIJ7	OTTHUMG00000019472	ENST00000381809.3:c.53C>G	9.37:g.4741035G>C	ENSP00000371230:p.Ser18Trp		B2R927|D3DQ62|Q6IBH4|Q6NXQ5|Q8IUU9	Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub	p.S18W	ENST00000381809.3	37	c.53	CCDS6455.1	9	.	.	.	.	.	.	.	.	.	.	G	29.3	4.990510	0.93106	.	.	ENSG00000147853	ENST00000381809;ENST00000447596	T;T	0.58652	0.32;0.32	4.45	4.45	0.53987	.	0.062431	0.64402	D	0.000003	D	0.83986	0.5373	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90054	0.4151	10	0.87932	D	0	-11.5406	16.8494	0.85990	0.0:0.0:1.0:0.0	.	18;18	E7ET30;Q9UIJ7	.;KAD3_HUMAN	W	18	ENSP00000371230:S18W;ENSP00000413933:S18W	ENSP00000371230:S18W	S	-	2	0	AK3	4731035	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.879000	0.69690	2.287000	0.76781	0.462000	0.41574	TCG	AK3	-	pfam_Adenylate_kin,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub		0.706	AK3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AK3	HGNC	protein_coding	OTTHUMT00000051585.1	G	NM_016282		4741035	-1	no_errors	ENST00000381809	ensembl	human	known	70_37	missense	SNP	1.000	C
ALDH2	217	genome.wustl.edu	37	12	112230491	112230491	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:112230491G>A	ENST00000261733.2	+	9	1049	c.988G>A	c.(988-990)Gac>Aac	p.D330N	ALDH2_ENST00000416293.3_Missense_Mutation_p.D283N	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	330					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CGTGCAGGAGGACATCTATGA	0.632			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0													34.0	29.0	30.0					12																	112230491		2203	4300	6503	SO:0001583	missense	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.988G>A	12.37:g.112230491G>A	ENSP00000261733:p.Asp330Asn		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.D330N	ENST00000261733.2	37	c.988	CCDS9155.1	12	.	.	.	.	.	.	.	.	.	.	G	10.78	1.448054	0.26074	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.17370	2.28;2.28	5.75	3.91	0.45181	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.225121	0.52532	N	0.000067	T	0.15522	0.0374	L	0.39898	1.24	0.32891	D	0.511823	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.0;0.001	T	0.06643	-1.0815	10	0.40728	T	0.16	.	12.7163	0.57117	0.1311:0.0:0.8689:0.0	.	283;254;330	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	N	283;330;254;190	ENSP00000403349:D283N;ENSP00000261733:D330N	ENSP00000261733:D330N	D	+	1	0	ALDH2	110714874	1.000000	0.71417	0.799000	0.32177	0.137000	0.21094	4.134000	0.57990	0.762000	0.33152	0.655000	0.94253	GAC	ALDH2	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.632	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH2	HGNC	protein_coding	OTTHUMT00000405008.1	G	NM_000690		112230491	+1	no_errors	ENST00000261733	ensembl	human	known	70_37	missense	SNP	0.939	A
ALPK2	115701	genome.wustl.edu	37	18	56203437	56203437	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:56203437G>C	ENST00000361673.3	-	5	4195	c.3982C>G	c.(3982-3984)Ctt>Gtt	p.L1328V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1328						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGGGAAGAAAGACTTCTCCAA	0.517																																																	0													92.0	88.0	89.0					18																	56203437		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3982C>G	18.37:g.56203437G>C	ENSP00000354991:p.Leu1328Val		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.L1328V	ENST00000361673.3	37	c.3982	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	g	14.61	2.586633	0.46110	.	.	ENSG00000198796	ENST00000361673	T	0.48836	0.8	5.63	2.65	0.31530	.	2.593500	0.01088	N	0.005120	T	0.50343	0.1610	L	0.52573	1.65	0.09310	N	1	P;P	0.50156	0.932;0.91	P;B	0.50659	0.647;0.388	T	0.34153	-0.9840	10	0.11485	T	0.65	-2.6539	5.7209	0.17986	0.0898:0.0:0.5627:0.3475	.	1323;1328	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	V	1328	ENSP00000354991:L1328V	ENSP00000354991:L1328V	L	-	1	0	ALPK2	54354417	0.003000	0.15002	0.001000	0.08648	0.017000	0.09413	1.238000	0.32707	0.700000	0.31782	0.457000	0.33378	CTT	ALPK2	-	NULL		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56203437	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.000	C
AMBRA1	55626	genome.wustl.edu	37	11	46529873	46529873	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:46529873G>C	ENST00000458649.2	-	9	2625	c.2207C>G	c.(2206-2208)tCa>tGa	p.S736*	AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.S617*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.S646*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.S707*|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.S707*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	736					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCTCTCCGTGAGAGATACTG	0.507																																																	0													90.0	82.0	85.0					11																	46529873		2201	4299	6500	SO:0001587	stop_gained	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2207C>G	11.37:g.46529873G>C	ENSP00000415327:p.Ser736*		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S736*	ENST00000458649.2	37	c.2207		11	.	.	.	.	.	.	.	.	.	.	G	43	9.864375	0.99283	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000426438;ENST00000458649;ENST00000528950	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	646;617;707;736;707	.	ENSP00000318313:S646X	S	-	2	0	AMBRA1	46486449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.278000	0.95766	2.941000	0.99782	0.655000	0.94253	TCA	AMBRA1	-	NULL		0.507	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	G	NM_017749		46529873	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	nonsense	SNP	1.000	C
APAF1	317	genome.wustl.edu	37	12	99042552	99042552	+	Missense_Mutation	SNP	C	C	T	rs150823984	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:99042552C>T	ENST00000551964.1	+	3	1023	c.287C>T	c.(286-288)tCt>tTt	p.S96F	APAF1_ENST00000333991.1_Missense_Mutation_p.S96F|APAF1_ENST00000357310.1_Missense_Mutation_p.S96F|APAF1_ENST00000547743.1_Missense_Mutation_p.S96F|APAF1_ENST00000339433.3_Missense_Mutation_p.S96F|APAF1_ENST00000547045.1_Missense_Mutation_p.S96F|APAF1_ENST00000550527.1_Missense_Mutation_p.S96F|APAF1_ENST00000549007.1_Missense_Mutation_p.S96F|APAF1_ENST00000552268.1_Missense_Mutation_p.S96F|APAF1_ENST00000359972.2_Missense_Mutation_p.S96F	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	96	Poly-Ser.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GTTGTCTCTTCTTCCAGTGGT	0.363																																																	0								C	PHE/SER,PHE/SER,PHE/SER,PHE/SER,PHE/SER	1,4405	2.1+/-5.4	0,1,2202	201.0	198.0	199.0		287,287,287,287,287	4.7	0.9	12	dbSNP_134	199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	APAF1	NM_001160.2,NM_013229.2,NM_181861.1,NM_181868.1,NM_181869.1	155,155,155,155,155	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	96/1195,96/1238,96/1249,96/1206,96/339	99042552	2,13004	2203	4300	6503	SO:0001583	missense	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.287C>T	12.37:g.99042552C>T	ENSP00000448165:p.Ser96Phe		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.S96F	ENST00000551964.1	37	c.287	CCDS9069.1	12	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258828	0.80246	2.27E-4	1.16E-4	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000547743;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;D;T;T;D;T;T	0.81821	0.14;-1.54;0.22;0.33;-1.54;0.22;0.33	5.64	4.74	0.60224	DEATH-like (1);	0.320582	0.38837	N	0.001550	D	0.86184	0.5872	L	0.60455	1.87	0.31634	N	0.648673	P;P;P;P;D	0.71674	0.842;0.927;0.801;0.933;0.998	B;P;P;B;D	0.79108	0.33;0.686;0.476;0.385;0.992	D	0.83390	0.0017	10	0.10377	T	0.69	0.8413	16.7479	0.85477	0.0:0.871:0.129:0.0	.	96;96;96;96;96	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	F	96	ENSP00000448165:S96F;ENSP00000353059:S96F;ENSP00000349862:S96F;ENSP00000341830:S96F;ENSP00000448449:S96F;ENSP00000449791:S96F;ENSP00000448161:S96F	ENSP00000334558:S96F	S	+	2	0	APAF1	97566683	1.000000	0.71417	0.883000	0.34634	0.922000	0.55478	4.957000	0.63652	1.328000	0.45358	0.655000	0.94253	TCT	APAF1	-	pirsf_Apoptotic_pept-activating_1		0.363	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99042552	+1	no_errors	ENST00000551964	ensembl	human	known	70_37	missense	SNP	0.501	T
APH1A	51107	genome.wustl.edu	37	1	150241120	150241120	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:150241120G>A	ENST00000369109.3	-	1	279	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Missense_Mutation_p.R31C|APH1A_ENST00000414276.2_Missense_Mutation_p.R31C|C1orf54_ENST00000369102.1_5'UTR	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	31					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGATAACGCGAAGCGGGTCC	0.647																																																	0													20.0	26.0	24.0					1																	150241120		1883	4097	5980	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.91C>T	1.37:g.150241120G>A	ENSP00000358105:p.Arg31Cys		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	pfam_Aph-1	p.R31C	ENST00000369109.3	37	c.91	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955280	0.73902	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000414276;ENST00000236017	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.99	4.99	0.66335	.	0.134854	0.45126	D	0.000388	T	0.64897	0.2640	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;0.998;0.999;1.0	D;P;P;D;D	0.69824	0.966;0.667;0.906;0.943;0.961	T	0.71337	-0.4623	10	0.87932	D	0	-5.2281	10.8073	0.46524	0.0:0.0:0.8115:0.1885	.	31;31;31;31;31	B4DUG7;B4DQK0;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;.;APH1A_HUMAN	C	31	ENSP00000358105:R31C;ENSP00000353380:R31C;ENSP00000397473:R31C;ENSP00000236017:R31C	ENSP00000236017:R31C	R	-	1	0	APH1A	148507744	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.551000	0.45820	2.586000	0.87340	0.561000	0.74099	CGC	APH1A	-	pfam_Aph-1		0.647	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	G	NM_016022		150241120	-1	no_errors	ENST00000369109	ensembl	human	known	70_37	missense	SNP	1.000	A
APOH	350	genome.wustl.edu	37	17	64216821	64216821	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:64216821G>A	ENST00000205948.6	-	5	492	c.455C>T	c.(454-456)aCa>aTa	p.T152I		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	152	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			AACACGAAGTGTTGCAAACGT	0.383																																					Melanoma(155;624 1882 16869 48804 51309)												0													110.0	107.0	108.0					17																	64216821		2203	4300	6503	SO:0001583	missense	350				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.455C>T	17.37:g.64216821G>A	ENSP00000205948:p.Thr152Ile		B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T152I	ENST00000205948.6	37	c.455	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	g	5.303	0.241294	0.10077	.	.	ENSG00000091583	ENST00000205948	T	0.65549	-0.16	5.42	-10.8	0.00216	Complement control module (2);Sushi/SCR/CCP (3);	1.511200	0.03459	N	0.211988	T	0.35770	0.0943	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.09684	-1.0663	10	0.20519	T	0.43	.	2.6375	0.04962	0.2546:0.0773:0.1609:0.5072	.	152	P02749	APOH_HUMAN	I	152	ENSP00000205948:T152I	ENSP00000205948:T152I	T	-	2	0	APOH	61647283	0.000000	0.05858	0.000000	0.03702	0.213000	0.24496	-2.074000	0.01375	-2.082000	0.00868	0.563000	0.77884	ACA	APOH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.383	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	G	NM_000042		64216821	-1	no_errors	ENST00000205948	ensembl	human	known	70_37	missense	SNP	0.000	A
ARHGAP1	392	genome.wustl.edu	37	11	46703639	46703639	+	Silent	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:46703639G>T	ENST00000311956.4	-	5	508	c.411C>A	c.(409-411)ctC>ctA	p.L137L		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	137	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	Rac GTPase activator activity (GO:0030675)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GGAGCCAGCTGAGGGAGGGCT	0.612																																																	0													201.0	150.0	167.0					11																	46703639		2201	4299	6500	SO:0001819	synonymous_variant	392			BC018118	CCDS7922.1	11p11.2	2006-04-11			ENSG00000175220	ENSG00000175220		"""Rho GTPase activating proteins"""	673	protein-coding gene	gene with protein product		602732				8288572	Standard	NM_004308		Approved	RhoGAP, p50rhoGAP, CDC42GAP, Cdc42GAP	uc001ndd.4	Q07960	OTTHUMG00000166567	ENST00000311956.4:c.411C>A	11.37:g.46703639G>T			D3DQQ6	Silent	SNP	pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom	p.L137	ENST00000311956.4	37	c.411	CCDS7922.1	11																																																																																			ARHGAP1	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.612	ARHGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP1	HGNC	protein_coding	OTTHUMT00000390472.1	G	NM_004308		46703639	-1	no_errors	ENST00000311956	ensembl	human	known	70_37	silent	SNP	0.995	T
ARHGAP23	57636	genome.wustl.edu	37	17	36656838	36656838	+	Splice_Site	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:36656838G>C	ENST00000431231.2	+	23	3483		c.e23-1		ARHGAP23_ENST00000437668.3_Splice_Site|ARHGAP23_ENST00000443378.1_Splice_Site	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						TTCACCAACAGATTCTACCAC	0.423																																																	0													52.0	39.0	43.0					17																	36656838		692	1591	2283	SO:0001630	splice_region_variant	57636			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.3416-1G>C	17.37:g.36656838G>C				Splice_Site	SNP	-	e23-1	ENST00000431231.2	37	c.3416-1	CCDS56027.1	17	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566961	0.65651	.	.	ENSG00000225485	ENST00000431231;ENST00000443378;ENST00000548703	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5506	0.76148	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP23	33910364	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.894000	0.87336	2.607000	0.88179	0.650000	0.86243	.	ARHGAP23	-	-		0.423	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	G	XM_290799	Intron	36656838	+1	no_errors	ENST00000431231	ensembl	human	known	70_37	splice_site	SNP	1.000	C
ARHGAP4	393	genome.wustl.edu	37	X	153176611	153176611	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:153176611C>G	ENST00000350060.5	-	13	1616	c.1575G>C	c.(1573-1575)gaG>gaC	p.E525D	ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.E504D|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.E502D|ARHGAP4_ENST00000370028.3_Missense_Mutation_p.E565D|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.E347D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	525	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAATGCAGCTCTCCACCACCA	0.582																																																	0													74.0	50.0	58.0					X																	153176611		2165	4244	6409	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.1575G>C	X.37:g.153176611C>G	ENSP00000203786:p.Glu525Asp		Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E525D	ENST00000350060.5	37	c.1575	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.696385|3.696385	0.68386|0.68386	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000393721;ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206|ENST00000442172	T;T;T;T;T|.	0.53206|.	0.63;0.63;0.63;0.63;0.63|.	5.21|5.21	3.06|3.06	0.35304|0.35304	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.157745|.	0.30085|.	N|.	0.010457|.	T|T	0.59824|0.59824	0.2222|0.2222	M|M	0.62266|0.62266	1.93|1.93	0.45867|0.45867	D|D	0.998725|0.998725	D;P|.	0.55800|.	0.973;0.928|.	P;P|.	0.54270|.	0.747;0.747|.	T|T	0.56153|0.56153	-0.8026|-0.8026	10|5	0.41790|.	T|.	0.15|.	.|.	7.0232|7.0232	0.24926|0.24926	0.0:0.6607:0.1464:0.1929|0.0:0.6607:0.1464:0.1929	.|.	565;525|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|T	347;565;525;504;502|40	ENSP00000377322:E347D;ENSP00000359045:E565D;ENSP00000203786:E525D;ENSP00000359033:E504D;ENSP00000444169:E502D|.	ENSP00000203786:E525D|.	E|R	-|-	3|2	2|0	ARHGAP4|ARHGAP4	152829805|152829805	0.936000|0.936000	0.31750|0.31750	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.085000|0.085000	0.14912|0.14912	0.969000|0.969000	0.38237|0.38237	0.509000|0.509000	0.49947|0.49947	GAG|AGA	ARHGAP4	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.582	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153176611	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGDIA	396	genome.wustl.edu	37	17	79827732	79827732	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:79827732G>C	ENST00000269321.7	-	2	210	c.75C>G	c.(73-75)gtC>gtG	p.V25V	ARHGDIA_ENST00000400721.4_Silent_p.V25V|ARHGDIA_ENST00000541078.2_Silent_p.V25V|ARHGDIA_ENST00000584461.1_Silent_p.V25V|ARHGDIA_ENST00000581876.1_Silent_p.V25V|RP11-498C9.3_ENST00000576021.1_RNA|RP11-498C9.3_ENST00000576554.1_RNA|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000580685.1_Silent_p.V25V	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	25					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCTTGTAGTTGACCGAGTGCT	0.632																																																	0													94.0	75.0	81.0					17																	79827732		2203	4300	6503	SO:0001819	synonymous_variant	396			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.75C>G	17.37:g.79827732G>C			A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	Silent	SNP	pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI	p.V25	ENST00000269321.7	37	c.75	CCDS11788.1	17																																																																																			ARHGDIA	-	pfam_Rho_GDI,superfamily_Ig_E-set		0.632	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGDIA	HGNC	protein_coding	OTTHUMT00000441679.2	G	NM_004309		79827732	-1	no_errors	ENST00000269321	ensembl	human	known	70_37	silent	SNP	0.996	C
ARHGEF10	9639	genome.wustl.edu	37	8	1876769	1876769	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:1876769G>A	ENST00000398564.1	+	24	2949	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ARHGEF10_ENST00000518288.1_Silent_p.V982V|ARHGEF10_ENST00000520359.1_Silent_p.V920V|ARHGEF10_ENST00000349830.3_Silent_p.V958V|ARHGEF10_ENST00000262112.6_Silent_p.V954V			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	983					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCCCGGCCGTGAGAGCTTCTG	0.612																																																	0													53.0	53.0	53.0					8																	1876769		2203	4300	6503	SO:0001819	synonymous_variant	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2949G>A	8.37:g.1876769G>A			O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.V983	ENST00000398564.1	37	c.2949		8																																																																																			ARHGEF10	-	superfamily_WD40_repeat_dom		0.612	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	HGNC	protein_coding		G			1876769	+1	no_errors	ENST00000398564	ensembl	human	known	70_37	silent	SNP	0.000	A
ASB2	51676	genome.wustl.edu	37	14	94405849	94405849	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:94405849C>T	ENST00000315988.4	-	6	1566	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	RP11-131H24.4_ENST00000557646.1_5'Flank|ASB2_ENST00000556337.1_5'UTR|ASB2_ENST00000555019.1_Missense_Mutation_p.E408K	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	360					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CGCCGGTCTTCGTAGAGGCGC	0.706																																																	0													18.0	15.0	16.0					14																	94405849		2166	4249	6415	SO:0001583	missense	51676			AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.1078G>A	14.37:g.94405849C>T	ENSP00000320675:p.Glu360Lys		B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.E360K	ENST00000315988.4	37	c.1078	CCDS9915.1	14	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688233	0.68271	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.29142	2.4;2.4;1.58	4.85	4.85	0.62838	Ankyrin repeat-containing domain (3);	0.055134	0.64402	D	0.000001	T	0.39279	0.1072	N	0.12182	0.205	0.54753	D	0.999981	D;D;D	0.89917	0.986;1.0;0.975	P;D;P	0.83275	0.718;0.996;0.476	T	0.47182	-0.9137	10	0.49607	T	0.09	.	17.9837	0.89150	0.0:1.0:0.0:0.0	.	376;408;360	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	K	408;376;360;306;306	ENSP00000451575:E408K;ENSP00000320675:E360K;ENSP00000450940:E306K	ENSP00000320675:E360K	E	-	1	0	ASB2	93475602	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	5.951000	0.70273	2.244000	0.73946	0.462000	0.41574	GAA	ASB2	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.706	ASB2-001	KNOWN	basic|CCDS	protein_coding	ASB2	HGNC	protein_coding	OTTHUMT00000412845.1	C			94405849	-1	no_errors	ENST00000315988	ensembl	human	known	70_37	missense	SNP	1.000	T
ASH1L	55870	genome.wustl.edu	37	1	155448847	155448847	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:155448847G>A	ENST00000368346.3	-	3	4453	c.3814C>T	c.(3814-3816)Cgg>Tgg	p.R1272W	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1272W			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1272					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCTTTTTCCGTTTTCGTTTC	0.393																																																	0													151.0	162.0	158.0					1																	155448847		2203	4300	6503	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3814C>T	1.37:g.155448847G>A	ENSP00000357330:p.Arg1272Trp		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R1272W	ENST00000368346.3	37	c.3814		1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100128	0.56183	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.93547	-3.24;-3.24	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	D	0.92990	0.7769	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93951	0.7232	10	0.87932	D	0	.	13.4275	0.61035	0.0:0.0:0.8056:0.1944	.	1272;1272	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	W	1272	ENSP00000357330:R1272W;ENSP00000376204:R1272W	ENSP00000357330:R1272W	R	-	1	2	ASH1L	153715471	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.201000	0.72124	2.705000	0.92388	0.591000	0.81541	CGG	ASH1L	-	NULL		0.393	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	G	NM_018489		155448847	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	A
ATF4	468	genome.wustl.edu	37	22	39917981	39917981	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:39917981C>G	ENST00000337304.2	+	2	1312	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	ATF4_ENST00000404241.2_Missense_Mutation_p.L144V|ATF4_ENST00000396680.1_Missense_Mutation_p.L144V	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	144					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|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 positive regulation of transcription (GO:0001077)|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)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	AATTGGCCATCTCCCAGAAAG	0.537																																																	0													129.0	144.0	139.0					22																	39917981		2203	4300	6503	SO:0001583	missense	468			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.430C>G	22.37:g.39917981C>G	ENSP00000336790:p.Leu144Val		Q9UH31	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.L144V	ENST00000337304.2	37	c.430	CCDS13996.1	22	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247009	0.39697	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.39592	1.07;1.07;1.07	4.74	2.19	0.27852	.	0.442651	0.24005	N	0.042433	T	0.39835	0.1093	M	0.76002	2.32	0.42452	D	0.992753	P	0.44429	0.835	B	0.38500	0.275	T	0.47129	-0.9141	10	0.87932	D	0	-23.2684	8.8853	0.35400	0.0:0.7184:0.1402:0.1414	.	144	P18848	ATF4_HUMAN	V	144	ENSP00000384587:L144V;ENSP00000336790:L144V;ENSP00000379912:L144V	ENSP00000336790:L144V	L	+	1	0	ATF4	38247927	0.010000	0.17322	0.998000	0.56505	0.997000	0.91878	1.099000	0.31013	0.968000	0.38212	0.561000	0.74099	CTC	ATF4	-	NULL		0.537	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	C	NM_001675		39917981	+1	no_errors	ENST00000337304	ensembl	human	known	70_37	missense	SNP	0.689	G
ATF5	22809	genome.wustl.edu	37	19	50436077	50436077	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:50436077C>G	ENST00000423777.2	+	3	954	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E	MIR4751_ENST00000578027.1_RNA|ATF5_ENST00000595125.1_Missense_Mutation_p.Q193E|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	193	Interaction with PTP4A1. {ECO:0000250}.|Poly-Pro.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	TTCTCCACCTCAACCTTCTCG	0.657																																					GBM(48;768 989 9196 9511 26329)												0													32.0	24.0	26.0					19																	50436077		2201	4299	6500	SO:0001583	missense	22809			AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.577C>G	19.37:g.50436077C>G	ENSP00000396954:p.Gln193Glu		B3KND3|Q9BSA1|Q9UNQ3	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pfscan_bZIP	p.Q193E	ENST00000423777.2	37	c.577	CCDS12789.1	19	.	.	.	.	.	.	.	.	.	.	C	0	-2.743041	0.00087	.	.	ENSG00000169136	ENST00000423777	T	0.43688	0.94	3.58	2.54	0.30619	.	0.546643	0.17257	U	0.180904	T	0.15652	0.0377	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.28073	-1.0055	10	0.05833	T	0.94	3.2048	3.7096	0.08414	0.2416:0.6228:0.0:0.1356	.	193	Q9Y2D1	ATF5_HUMAN	E	193	ENSP00000396954:Q193E	ENSP00000396954:Q193E	Q	+	1	0	ATF5	55127889	0.007000	0.16637	0.048000	0.18961	0.100000	0.18952	2.255000	0.43222	0.685000	0.31468	0.448000	0.29417	CAA	ATF5	-	NULL		0.657	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF5	HGNC	protein_coding	OTTHUMT00000464915.2	C			50436077	+1	no_errors	ENST00000423777	ensembl	human	known	70_37	missense	SNP	0.046	G
BCOR	54880	genome.wustl.edu	37	X	39934233	39934233	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:39934233C>T	ENST00000378444.4	-	4	594	c.366G>A	c.(364-366)atG>atA	p.M122I	BCOR_ENST00000342274.4_Missense_Mutation_p.M122I|BCOR_ENST00000378455.4_Missense_Mutation_p.M122I|BCOR_ENST00000397354.3_Missense_Mutation_p.M122I	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	122					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTTTGAACTGCATCTCTGGAT	0.507			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													64.0	61.0	62.0					X																	39934233		2202	4300	6502	SO:0001583	missense	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.366G>A	X.37:g.39934233C>T	ENSP00000367705:p.Met122Ile		D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M122I	ENST00000378444.4	37	c.366	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	c	5.733	0.319782	0.10845	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.46	1.22	0.21188	.	.	.	.	.	T	0.32971	0.0847	N	0.04508	-0.205	0.23896	N	0.996534	B;B;B;B	0.06786	0.0;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.20107	-1.0285	9	0.15952	T	0.53	-6.985	5.8957	0.18937	0.1363:0.478:0.0:0.3857	.	122;122;122;122	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	I	122	ENSP00000367716:M122I;ENSP00000380512:M122I;ENSP00000367705:M122I;ENSP00000345923:M122I;ENSP00000384485:M122I	ENSP00000345923:M122I	M	-	3	0	BCOR	39819177	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.252000	0.18278	0.152000	0.19188	0.597000	0.82753	ATG	BCOR	-	NULL		0.507	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	C	NM_017745		39934233	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	missense	SNP	0.994	T
BPIFB2	80341	genome.wustl.edu	37	20	31609533	31609533	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:31609533C>G	ENST00000170150.3	+	15	1458	c.1263C>G	c.(1261-1263)ctC>ctG	p.L421L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	421						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CTGCAGCTCTCTTGGCCATGG	0.572																																																	0													148.0	134.0	139.0					20																	31609533		2203	4300	6503	SO:0001819	synonymous_variant	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1263C>G	20.37:g.31609533C>G			Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.L421	ENST00000170150.3	37	c.1263	CCDS13210.1	20																																																																																			BPIFB2	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.572	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	C	NM_025227		31609533	+1	no_errors	ENST00000170150	ensembl	human	known	70_37	silent	SNP	0.998	G
BRD7	29117	genome.wustl.edu	37	16	50353805	50353805	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:50353805C>G	ENST00000394688.3	-	16	2052	c.1893G>C	c.(1891-1893)ttG>ttC	p.L631F	BRD7_ENST00000394689.2_Missense_Mutation_p.L632F			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	631					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TACCTTCTGTCAAATCCACAA	0.473																																																	0													99.0	91.0	94.0					16																	50353805		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1893G>C	16.37:g.50353805C>G	ENSP00000378180:p.Leu631Phe		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.L632F	ENST00000394688.3	37	c.1896	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	C	11.91	1.781107	0.31502	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.47528	0.86;0.84	5.92	-0.795	0.10915	.	0.000000	0.64402	D	0.000001	T	0.61426	0.2346	M	0.66939	2.045	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.60094	-0.7330	10	0.48119	T	0.1	-15.8305	12.1065	0.53816	0.0:0.5006:0.0:0.4994	.	631;632	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	F	631;632	ENSP00000378180:L631F;ENSP00000378181:L632F	ENSP00000378180:L631F	L	-	3	2	BRD7	48911306	0.871000	0.30034	0.988000	0.46212	0.396000	0.30629	-0.252000	0.08806	-0.166000	0.10890	-0.484000	0.04775	TTG	BRD7	-	NULL		0.473	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	C	NM_013263		50353805	-1	no_errors	ENST00000394689	ensembl	human	known	70_37	missense	SNP	0.996	G
C10orf88	80007	genome.wustl.edu	37	10	124692001	124692001	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:124692001G>C	ENST00000481909.1	-	6	1504	c.1280C>G	c.(1279-1281)aCt>aGt	p.T427S	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	427										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGGTATCCCAGTGGGCGGGGA	0.383																																																	0													106.0	102.0	104.0					10																	124692001		2203	4300	6503	SO:0001583	missense	80007			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1280C>G	10.37:g.124692001G>C	ENSP00000419126:p.Thr427Ser		Q0P6C6|Q8N597	Missense_Mutation	SNP	NULL	p.T427S	ENST00000481909.1	37	c.1280	CCDS7632.1	10	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058917	0.01950	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.83	2.97	0.34412	.	0.448187	0.17984	N	0.155435	T	0.11452	0.0279	N	0.02391	-0.57	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29243	-1.0018	9	0.10636	T	0.68	.	3.8702	0.09033	0.086:0.2775:0.4735:0.1629	.	427	Q9H8K7	CJ088_HUMAN	S	427	.	ENSP00000419126:T427S	T	-	2	0	C10orf88	124681991	0.005000	0.15991	0.000000	0.03702	0.583000	0.36354	1.540000	0.36115	0.452000	0.26830	-0.150000	0.13652	ACT	C10orf88	-	NULL		0.383	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1	G	NM_024942		124692001	-1	no_errors	ENST00000481909	ensembl	human	known	70_37	missense	SNP	0.000	C
C11orf42	160298	genome.wustl.edu	37	11	6231275	6231275	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:6231275G>C	ENST00000316375.2	+	2	318	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	90										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGGATCTGAGGGTGCCTT	0.622																																																	0													56.0	57.0	56.0					11																	6231275		2201	4296	6497	SO:0001583	missense	160298			BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.268G>C	11.37:g.6231275G>C	ENSP00000321021:p.Glu90Gln			Missense_Mutation	SNP	NULL	p.E90Q	ENST00000316375.2	37	c.268	CCDS7759.1	11	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833847	0.32421	.	.	ENSG00000180878	ENST00000316375	T	0.51574	0.7	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000025	T	0.53818	0.1820	N	0.24115	0.695	0.33366	D	0.573015	D	0.67145	0.996	D	0.78314	0.991	T	0.62586	-0.6823	10	0.46703	T	0.11	-17.743	14.1299	0.65247	0.0:0.0:1.0:0.0	.	90	Q8N5U0	CK042_HUMAN	Q	90	ENSP00000321021:E90Q	ENSP00000321021:E90Q	E	+	1	0	C11orf42	6187851	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	3.016000	0.49607	2.718000	0.92993	0.484000	0.47621	GAG	C11orf42	-	NULL		0.622	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf42	HGNC	protein_coding	OTTHUMT00000257227.2	G	NM_173525		6231275	+1	no_errors	ENST00000316375	ensembl	human	known	70_37	missense	SNP	1.000	C
CFAP54	144535	genome.wustl.edu	37	12	97137268	97137268	+	Missense_Mutation	SNP	C	C	G	rs77529863	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:97137268C>G	ENST00000524981.4	+	53	7331	c.7308C>G	c.(7306-7308)ttC>ttG	p.F2436L				Q96N23	CL055_HUMAN		0																	AGGCTGAATTCTTGACGCAAG	0.413																																																	0													100.0	96.0	97.0					12																	97137268		2203	4300	6503	SO:0001583	missense	144535																														ENST00000524981.4:c.7308C>G	12.37:g.97137268C>G	ENSP00000431759:p.Phe2436Leu			Missense_Mutation	SNP	NULL	p.F861L	ENST00000524981.4	37	c.2583		12	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503687	0.26949	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.59	1.54	0.23209	.	0.431115	0.22526	N	0.058915	T	0.25457	0.0619	L	0.41710	1.295	0.28048	N	0.933463	B	0.02656	0.0	B	0.01281	0.0	T	0.17228	-1.0376	9	0.13108	T	0.6	-14.2996	4.175	0.10348	0.2387:0.4454:0.2413:0.0746	.	861	Q6ZTY8	CL063_HUMAN	L	2436;861	.	ENSP00000345466:F861L	F	+	3	2	C12orf63	95661399	0.766000	0.28496	0.995000	0.50966	0.719000	0.41307	0.225000	0.17757	0.300000	0.22699	-0.475000	0.04921	TTC	C12orf55	-	NULL		0.413	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97137268	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	0.953	G
C14orf159	80017	genome.wustl.edu	37	14	91671151	91671151	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:91671151G>A	ENST00000523771.1	+	12	2134	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	C14orf159_ENST00000518868.1_Missense_Mutation_p.D516N|C14orf159_ENST00000256324.10_Missense_Mutation_p.D516N|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000428926.2_Missense_Mutation_p.D511N|C14orf159_ENST00000525393.2_Missense_Mutation_p.D387N|C14orf159_ENST00000522322.1_Missense_Mutation_p.D511N|C14orf159_ENST00000523816.1_Missense_Mutation_p.D511N|C14orf159_ENST00000412671.2_Missense_Mutation_p.D516N|C14orf159_ENST00000520328.1_Intron			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	511						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CGTGGAGGCTGACTTTGCCGT	0.632																																																	0													143.0	95.0	111.0					14																	91671151		2203	4300	6503	SO:0001583	missense	80017			AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1531G>A	14.37:g.91671151G>A	ENSP00000429655:p.Asp511Asn		B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	pfam_DUF1445,pirsf_UPF0317_mt	p.D516N	ENST00000523771.1	37	c.1546	CCDS32141.1	14	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145190	0.77888	.	.	ENSG00000133943	ENST00000256324;ENST00000518868;ENST00000523816;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.96	3.13	0.36017	.	0.053935	0.64402	D	0.000001	T	0.51210	0.1661	M	0.75447	2.3	0.47621	D	0.999473	P;D;P	0.71674	0.751;0.998;0.707	P;D;B	0.66979	0.472;0.948;0.341	T	0.52087	-0.8622	10	0.72032	D	0.01	.	11.0706	0.48002	0.1542:0.0:0.8458:0.0	.	511;387;516	Q7Z3D6;Q8NB88;Q7Z3D6-2	CN159_HUMAN;.;.	N	516;516;511;387;511;511;511;516	ENSP00000256324:D516N;ENSP00000428263:D516N;ENSP00000428974:D511N;ENSP00000435459:D387N;ENSP00000404343:D511N;ENSP00000427953:D511N;ENSP00000429655:D511N;ENSP00000404196:D516N	ENSP00000256324:D516N	D	+	1	0	C14orf159	90740904	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	6.061000	0.71148	0.504000	0.28082	0.591000	0.81541	GAC	C14orf159	-	pirsf_UPF0317_mt		0.632	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf159	HGNC	protein_coding	OTTHUMT00000381273.1	G	NM_024952		91671151	+1	no_errors	ENST00000256324	ensembl	human	known	70_37	missense	SNP	1.000	A
C19orf71	100128569	genome.wustl.edu	37	19	3543237	3543237	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:3543237G>C	ENST00000329493.5	+	2	112	c.88G>C	c.(88-90)Gac>Cac	p.D30H	MFSD12_ENST00000398558.4_Intron|MFSD12_ENST00000389395.3_Intron|AC005786.7_ENST00000589360.1_RNA	NM_001135580.1	NP_001129052.1	A6NCJ1	CS071_HUMAN	chromosome 19 open reading frame 71	30										endometrium(2)	2						CCTCAGCGATGACTACCTGTC	0.642																																																	0													15.0	22.0	20.0					19																	3543237		691	1590	2281	SO:0001583	missense	100128569				CCDS45918.1	19p13.3	2012-10-26			ENSG00000183397	ENSG00000183397			34496	protein-coding gene	gene with protein product							Standard	NM_001135580		Approved	LOC100128569	uc010xhm.2	A6NCJ1		ENST00000329493.5:c.88G>C	19.37:g.3543237G>C	ENSP00000327950:p.Asp30His			Missense_Mutation	SNP	NULL	p.D30H	ENST00000329493.5	37	c.88	CCDS45918.1	19	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903558	0.33628	.	.	ENSG00000183397	ENST00000329493	T	0.44482	0.92	4.96	2.77	0.32553	.	0.132669	0.33670	N	0.004664	T	0.40272	0.1110	M	0.72118	2.19	0.29445	N	0.858884	B	0.10296	0.003	B	0.13407	0.009	T	0.43829	-0.9367	10	0.87932	D	0	.	8.2815	0.31902	0.0:0.172:0.6495:0.1786	.	30	A6NCJ1	CS071_HUMAN	H	30	ENSP00000327950:D30H	ENSP00000327950:D30H	D	+	1	0	C19orf71	3494237	0.567000	0.26626	0.563000	0.28383	0.048000	0.14542	0.805000	0.27112	0.480000	0.27534	-1.100000	0.02121	GAC	C19orf71	-	NULL		0.642	C19orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf71	HGNC	protein_coding	OTTHUMT00000452943.1	G	NM_001135580		3543237	+1	no_errors	ENST00000329493	ensembl	human	known	70_37	missense	SNP	0.934	C
C2CD3	26005	genome.wustl.edu	37	11	73850738	73850738	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:73850738G>C	ENST00000334126.7	-	4	845	c.619C>G	c.(619-621)Cag>Gag	p.Q207E	C2CD3_ENST00000539061.1_Missense_Mutation_p.Q207E|C2CD3_ENST00000313663.7_Missense_Mutation_p.Q207E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	207					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GATGGAACCTGAAACTGGGTA	0.448																																																	0													220.0	220.0	220.0					11																	73850738		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.619C>G	11.37:g.73850738G>C	ENSP00000334379:p.Gln207Glu		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.Q207E	ENST00000334126.7	37	c.619		11	.	.	.	.	.	.	.	.	.	.	G	1.809	-0.475211	0.04414	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061	T;T	0.09073	3.02;3.02	5.74	0.999	0.19862	.	1.472120	0.04028	N	0.301012	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.011	B;B	0.13407	0.009;0.008	T	0.34079	-0.9843	10	0.05351	T	0.99	2.5178	3.8374	0.08900	0.1679:0.1274:0.5668:0.1379	.	207;207	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	E	207	ENSP00000334379:Q207E;ENSP00000323339:Q207E	ENSP00000289350:Q207E	Q	-	1	0	C2CD3	73528386	0.998000	0.40836	0.771000	0.31576	0.836000	0.47400	0.957000	0.29215	0.300000	0.22699	0.650000	0.86243	CAG	C2CD3	-	NULL		0.448	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		G	NM_015531		73850738	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	missense	SNP	0.090	C
C9orf139	401563	genome.wustl.edu	37	9	139929272	139929272	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:139929272G>C	ENST00000314330.2	+	3	1853	c.339G>C	c.(337-339)ttG>ttC	p.L113F	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	113										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTGGATTTGAAGGAGCCTC	0.672																																																	0													48.0	52.0	51.0					9																	139929272		2200	4295	6495	SO:0001583	missense	401563				CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.339G>C	9.37:g.139929272G>C	ENSP00000318119:p.Leu113Phe		A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	NULL	p.L113F	ENST00000314330.2	37	c.339	CCDS7023.1	9	.	.	.	.	.	.	.	.	.	.	g	9.723	1.160229	0.21454	.	.	ENSG00000180539	ENST00000314330	T	0.57436	0.4	2.65	-5.31	0.02730	.	.	.	.	.	T	0.24661	0.0598	N	0.08118	0	0.09310	N	1	P	0.43542	0.81	B	0.41202	0.35	T	0.19386	-1.0307	9	0.87932	D	0	.	0.5484	0.00658	0.4045:0.1317:0.1747:0.2891	.	113	Q6ZV77	CI139_HUMAN	F	113	ENSP00000318119:L113F	ENSP00000318119:L113F	L	+	3	2	C9orf139	139049093	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.428000	0.02439	-2.106000	0.00841	0.290000	0.19541	TTG	C9orf139	-	NULL		0.672	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf139	HGNC	protein_coding	OTTHUMT00000055213.2	G	NM_207511		139929272	+1	no_errors	ENST00000314330	ensembl	human	known	70_37	missense	SNP	0.000	C
C9orf139	401563	genome.wustl.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:139929414G>C	ENST00000314330.2	+	3	1995	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	RP11-229P13.20_ENST00000457302.2_lincRNA|FUT7_ENST00000314412.6_5'Flank	NM_207511.1	NP_997394.1	Q6ZV77	CI139_HUMAN	chromosome 9 open reading frame 139	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632																																																	0													45.0	57.0	53.0					9																	139929414		2198	4295	6493	SO:0001583	missense	401563				CCDS7023.1	9q34.3	2008-02-05			ENSG00000180539	ENSG00000180539			31426	protein-coding gene	gene with protein product							Standard	NM_207511		Approved	FLJ36268, FLJ42909	uc004ckp.1	Q6ZV77	OTTHUMG00000020959	ENST00000314330.2:c.481G>C	9.37:g.139929414G>C	ENSP00000318119:p.Glu161Gln		A2RUA3|B9EGW2|Q5SPY0|Q8N224	Missense_Mutation	SNP	NULL	p.E161Q	ENST00000314330.2	37	c.481	CCDS7023.1	9	.	.	.	.	.	.	.	.	.	.	g	12.74	2.027481	0.35797	.	.	ENSG00000180539	ENST00000314330	T	0.55234	0.53	2.64	0.667	0.17907	.	.	.	.	.	T	0.45236	0.1332	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	D	0.65233	0.933	T	0.30001	-0.9993	9	0.87932	D	0	.	5.1043	0.14775	0.3008:0.0:0.6992:0.0	.	161	Q6ZV77	CI139_HUMAN	Q	161	ENSP00000318119:E161Q	ENSP00000318119:E161Q	E	+	1	0	C9orf139	139049235	0.001000	0.12720	0.001000	0.08648	0.302000	0.27658	0.219000	0.17641	0.169000	0.19679	0.290000	0.19541	GAA	C9orf139	-	NULL		0.632	C9orf139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf139	HGNC	protein_coding	OTTHUMT00000055213.2	G	NM_207511		139929414	+1	no_errors	ENST00000314330	ensembl	human	known	70_37	missense	SNP	0.003	C
CACNA1I	8911	genome.wustl.edu	37	22	40061888	40061888	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:40061888C>G	ENST00000402142.3	+	23	3981	c.3981C>G	c.(3979-3981)ctC>ctG	p.L1327L	CACNA1I_ENST00000404898.1_Silent_p.L1292L|CACNA1I_ENST00000401624.1_Silent_p.L1327L|CACNA1I_ENST00000407673.1_Silent_p.L1292L|CACNA1I_ENST00000400164.3_Silent_p.L1292L|CACNA1I_ENST00000336649.4_Silent_p.L1333L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1327					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCCCCAGCTCTTCAAGGGCA	0.572																																																	0													120.0	130.0	127.0					22																	40061888		2088	4201	6289	SO:0001819	synonymous_variant	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3981C>G	22.37:g.40061888C>G			B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.L1333	ENST00000402142.3	37	c.3999	CCDS46710.1	22																																																																																			CACNA1I	-	pfam_Ion_trans_dom		0.572	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40061888	+1	no_errors	ENST00000336649	ensembl	human	known	70_37	silent	SNP	1.000	G
CAMSAP2	23271	genome.wustl.edu	37	1	200827096	200827096	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:200827096C>G	ENST00000236925.4	+	18	4428	c.4379C>G	c.(4378-4380)tCt>tGt	p.S1460C	CAMSAP2_ENST00000358823.2_Missense_Mutation_p.S1449C|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.S1433C			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1460	CKK. {ECO:0000255|PROSITE- ProRule:PRU00841}.				microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										AAAACTTTATCTGCCAGTGTT	0.378																																																	0													89.0	98.0	95.0					1																	200827096		2203	4300	6503	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4379C>G	1.37:g.200827096C>G	ENSP00000236925:p.Ser1460Cys		B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.S1460C	ENST00000236925.4	37	c.4379		1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728730	0.69074	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.34472	1.37;1.36;1.39	5.34	5.34	0.76211	PRC-barrel-like (1);Microtubule-binding calmodulin-regulated spectrin-associated, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	M	0.85542	2.76	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.71915	-0.4448	10	0.87932	D	0	-22.4974	19.4015	0.94632	0.0:1.0:0.0:0.0	.	1433;1460;1449	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	C	1449;1433;1460	ENSP00000351684:S1449C;ENSP00000416800:S1433C;ENSP00000236925:S1460C	ENSP00000236925:S1460C	S	+	2	0	CAMSAP1L1	199093719	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.760000	0.85248	2.659000	0.90383	0.563000	0.77884	TCT	CAMSAP2	-	pfam_CKK_domain,superfamily_PRC_barrell-like		0.378	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CAMSAP2	HGNC	protein_coding	OTTHUMT00000086956.2	C	NM_203459		200827096	+1	no_errors	ENST00000236925	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPN3	825	genome.wustl.edu	37	15	42684915	42684915	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:42684915G>C	ENST00000397163.3	+	7	1243	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	CAPN3_ENST00000349748.3_Missense_Mutation_p.D294H|CAPN3_ENST00000318023.7_Missense_Mutation_p.D342H|CAPN3_ENST00000356316.3_Missense_Mutation_p.D255H|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.D342H	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	342	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CACGGGGCTGGATGAGGTAAG	0.572																																																	0													75.0	59.0	65.0					15																	42684915		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.1024G>C	15.37:g.42684915G>C	ENSP00000380349:p.Asp342His		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D342H	ENST00000397163.3	37	c.1024	CCDS45245.1	15	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710869	0.89112	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29	5.37	5.37	0.77165	Peptidase C2, calpain, catalytic domain (3);	0.343103	0.26366	U	0.024794	D	0.84902	0.5575	N	0.20357	0.565	0.47737	D	0.999506	P;P;B;B;B;P	0.40230	0.689;0.708;0.329;0.348;0.4;0.537	P;P;B;B;B;P	0.46825	0.455;0.489;0.259;0.286;0.409;0.528	D	0.86904	0.2056	10	0.87932	D	0	.	18.4966	0.90867	0.0:0.0:1.0:0.0	.	207;255;294;342;342;255	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	H	255;342;342;294;342	ENSP00000348667:D255H;ENSP00000380349:D342H;ENSP00000350181:D342H;ENSP00000183936:D294H;ENSP00000326281:D342H	ENSP00000326281:D342H	D	+	1	0	CAPN3	40472207	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.516000	0.67055	2.683000	0.91414	0.655000	0.94253	GAT	CAPN3	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.572	CAPN3-009	KNOWN	basic|CCDS	protein_coding	CAPN3	HGNC	protein_coding	OTTHUMT00000421075.1	G			42684915	+1	no_errors	ENST00000397163	ensembl	human	known	70_37	missense	SNP	1.000	C
CASP16	197350	genome.wustl.edu	37	16	3194554	3194554	+	5'UTR	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:3194554G>A	ENST00000428155.1	+	0	183				CASP16_ENST00000571356.1_3'UTR			P0CB46	CASPG_HUMAN	caspase 16, apoptosis-related cysteine peptidase (putative)						extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)										GAGGGCAGCTGAGGCAGCCAC	0.672																																																	0																																										SO:0001623	5_prime_UTR_variant	197350					16p13.3	2014-04-01			ENSG00000228146	ENSG00000228146			27290	protein-coding gene	gene with protein product						18281271	Standard	XM_003403459		Approved		uc002cuf.1	P0CB46	OTTHUMG00000177520	ENST00000428155.1:c.-544G>A	16.37:g.3194554G>A				RNA	SNP	-	NULL	ENST00000428155.1	37	NULL		16																																																																																			CASP16	-	-		0.672	CASP16-001	KNOWN	basic|appris_principal	protein_coding	CASP16	HGNC	protein_coding	OTTHUMT00000437342.1	G	XM_003403459		3194554	+1	no_errors	ENST00000571356	ensembl	human	known	70_37	rna	SNP	0.002	A
CASP5	838	genome.wustl.edu	37	11	104879737	104879737	+	Intron	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:104879737C>T	ENST00000260315.3	-	2	7				CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.R6K|CASP5_ENST00000526056.1_Missense_Mutation_p.R6K|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCCTTCAACTCTGGGCACAGC	0.368																																																	0													112.0	96.0	100.0					11																	104879737		692	1591	2283	SO:0001627	intron_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.8-30G>A	11.37:g.104879737C>T			B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R6K	ENST00000260315.3	37	c.17	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	0	-2.812764	0.00073	.	.	ENSG00000137757	ENST00000393141;ENST00000526056	T;T	0.01745	4.66;4.66	1.13	-2.27	0.06846	.	.	.	.	.	T	0.01124	0.0037	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.47182	-0.9137	7	.	.	.	.	3.7699	0.08637	0.3868:0.2051:0.4081:0.0	.	6	P51878-5	.	K	6	ENSP00000376849:R6K;ENSP00000436877:R6K	.	R	-	2	0	CASP5	104384947	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.218000	0.02976	-1.832000	0.01196	-1.462000	0.01023	AGA	CASP5	-	NULL		0.368	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	C	NM_004347		104879737	-1	no_errors	ENST00000393141	ensembl	human	known	70_37	missense	SNP	0.000	T
CCDC88A	55704	genome.wustl.edu	37	2	55544930	55544930	+	Missense_Mutation	SNP	C	C	G	rs371217296		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:55544930C>G	ENST00000436346.1	-	20	4213	c.3372G>C	c.(3370-3372)caG>caC	p.Q1124H	CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1124H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1123H|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1123H|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1124					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTTGGGCATTCTGGTTCATGA	0.343																																																	0													136.0	139.0	138.0					2																	55544930		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3372G>C	2.37:g.55544930C>G	ENSP00000410608:p.Gln1124His		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE	p.Q1124H	ENST00000436346.1	37	c.3372		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.948242|3.948242	0.73787|0.73787	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;D;T;T	.|0.83250	.|2.14;2.35;2.36;-1.7;2.16;1.14	6.02|6.02	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.45867	.|U	.|0.000338	D|D	0.89901|0.89901	0.6849|0.6849	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;D;D;D;P;D	.|0.89917	.|0.989;0.998;0.999;1.0;0.849;0.999	.|P;D;D;D;P;D	.|0.83275	.|0.841;0.996;0.965;0.995;0.554;0.976	D|D	0.90681|0.90681	0.4605|0.4605	5|10	.|0.62326	.|D	.|0.03	-11.3252|-11.3252	15.2102|15.2102	0.73219|0.73219	0.0:0.9328:0.0:0.0672|0.0:0.9328:0.0:0.0672	.|.	.|1123;1124;1069;1124;1123;1123	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	Q|H	105|1123;1124;1124;169;1123;299	.|ENSP00000338728:Q1123H;ENSP00000263630:Q1124H;ENSP00000410608:Q1124H;ENSP00000390012:Q169H;ENSP00000404431:Q1123H;ENSP00000405080:Q299H	.|ENSP00000263630:Q1124H	E|Q	-|-	1|3	0|2	CCDC88A|CCDC88A	55398434|55398434	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	2.393000|2.393000	0.44442|0.44442	1.548000|1.548000	0.49413|0.49413	0.650000|0.650000	0.86243|0.86243	GAA|CAG	CCDC88A	-	NULL		0.343	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding		C	NM_017571		55544930	-1	no_errors	ENST00000436346	ensembl	human	known	70_37	missense	SNP	1.000	G
CCR4	1233	genome.wustl.edu	37	3	32995016	32995016	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:32995016C>G	ENST00000330953.5	+	2	270	c.102C>G	c.(100-102)atC>atG	p.I34M		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	34					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						AAGAAGGCATCAAGGCATTTG	0.458																																																	0													173.0	163.0	166.0					3																	32995016		2203	4300	6503	SO:0001583	missense	1233			X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.102C>G	3.37:g.32995016C>G	ENSP00000332659:p.Ile34Met		Q9ULY6|Q9ULY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_ATII_rcpt,prints_Duffy_chemokine_rcpt	p.I34M	ENST00000330953.5	37	c.102	CCDS2656.1	3	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989348	0.35131	.	.	ENSG00000183813	ENST00000330953	T	0.68331	-0.32	5.56	4.66	0.58398	.	0.637606	0.13883	N	0.356190	T	0.62514	0.2434	L	0.53671	1.685	0.25251	N	0.989675	B	0.14012	0.009	B	0.14023	0.01	T	0.57659	-0.7773	10	0.87932	D	0	.	11.873	0.52531	0.136:0.7328:0.1312:0.0	.	34	P51679	CCR4_HUMAN	M	34	ENSP00000332659:I34M	ENSP00000332659:I34M	I	+	3	3	CCR4	32970020	0.997000	0.39634	0.972000	0.41901	0.973000	0.67179	0.532000	0.23067	2.620000	0.88729	0.655000	0.94253	ATC	CCR4	-	prints_Chemokine_CCR4,prints_Chemokine_rcpt,prints_Chemokine_CXCR4		0.458	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR4	HGNC	protein_coding	OTTHUMT00000253252.2	C			32995016	+1	no_errors	ENST00000330953	ensembl	human	known	70_37	missense	SNP	0.955	G
CD1A	909	genome.wustl.edu	37	1	158227233	158227233	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:158227233C>G	ENST00000289429.5	+	5	1439	c.906C>G	c.(904-906)ttC>ttG	p.F302L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	302					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCGTGGGCTTCATCATCTTGG	0.458																																																	0													366.0	337.0	347.0					1																	158227233		2203	4300	6503	SO:0001583	missense	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.906C>G	1.37:g.158227233C>G	ENSP00000289429:p.Phe302Leu		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.F302L	ENST00000289429.5	37	c.906	CCDS1174.1	1	.	.	.	.	.	.	.	.	.	.	-	0.050	-1.251965	0.01469	.	.	ENSG00000158477	ENST00000289429	T	0.01192	5.2	3.94	0.95	0.19572	MHC class I-like antigen recognition (1);	1.549700	0.04512	N	0.383037	T	0.00109	0.0003	N	0.00399	-1.545	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36720	-0.9736	10	0.02654	T	1	0.0197	7.1712	0.25719	0.0:0.3573:0.4606:0.1821	.	302	P06126	CD1A_HUMAN	L	302	ENSP00000289429:F302L	ENSP00000289429:F302L	F	+	3	2	CD1A	156493857	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.170000	0.16663	0.101000	0.17610	-0.205000	0.12727	TTC	CD1A	-	NULL		0.458	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	C	NM_001763		158227233	+1	no_errors	ENST00000289429	ensembl	human	known	70_37	missense	SNP	0.003	G
CD40	958	genome.wustl.edu	37	20	44756862	44756862	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:44756862C>T	ENST00000372285.3	+	7	717	c.645C>T	c.(643-645)atC>atT	p.I215I	CD40_ENST00000372276.3_Splice_Site_p.Q195*|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	215					B cell proliferation (GO:0042100)|cellular calcium ion homeostasis (GO:0006874)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|protein complex assembly (GO:0006461)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	CD40 receptor complex (GO:0035631)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|enzyme binding (GO:0019899)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)				TGGTCTTTATCAGTGAGTCCT	0.522									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													153.0	136.0	141.0					20																	44756862		2203	4300	6503	SO:0001630	splice_region_variant	958	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X60592	CCDS13393.1, CCDS13394.1	20q12-q13.2	2014-09-17	2006-03-28	2005-01-14	ENSG00000101017	ENSG00000101017		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11919	protein-coding gene	gene with protein product		109535	"""tumor necrosis factor receptor superfamily, member 5"""	TNFRSF5		7687385, 2998589	Standard	XM_005260617		Approved	p50, Bp50	uc002xrg.1	P25942	OTTHUMG00000033053	ENST00000372285.3:c.646+1C>T	20.37:g.44756862C>T		926	E1P5S9|Q53GN5|Q5JY15|Q5U007|Q7M4Q8|Q86YK5|Q9BYU0	Nonsense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt	p.Q195*	ENST00000372285.3	37	c.583	CCDS13393.1	20	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225145	0.58668	.	.	ENSG00000101017	ENST00000372276	.	.	.	4.59	1.48	0.22813	.	.	.	.	.	.	.	.	.	.	.	0.36141	D	0.846769	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-14.8817	2.7124	0.05179	0.1878:0.5269:0.1821:0.1032	.	.	.	.	X	195	.	ENSP00000361350:Q195X	Q	+	1	0	CD40	44190269	0.273000	0.24181	0.411000	0.26484	0.469000	0.32828	1.195000	0.32186	1.135000	0.42183	0.491000	0.48974	CAA	CD40	-	NULL		0.522	CD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40	HGNC	protein_coding	OTTHUMT00000080376.1	C	NM_001250	Silent	44756862	+1	no_errors	ENST00000372276	ensembl	human	known	70_37	nonsense	SNP	0.022	T
CELF2	10659	genome.wustl.edu	37	10	11308601	11308601	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:11308601G>A	ENST00000379261.4	+	6	650	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CELF2_ENST00000537122.1_Silent_p.Q75Q|CELF2_ENST00000450189.1_Silent_p.Q193Q|CELF2_ENST00000354440.2_Silent_p.Q162Q|CELF2_ENST00000417956.2_Silent_p.Q162Q|CELF2_ENST00000427450.1_Silent_p.Q162Q|CELF2_ENST00000416382.2_Silent_p.Q186Q|CELF2_ENST00000608830.1_Silent_p.Q162Q|CELF2_ENST00000315874.4_Silent_p.Q162Q|CELF2_ENST00000609692.1_Silent_p.Q162Q|CELF2_ENST00000542579.1_Silent_p.Q193Q|CELF2_ENST00000399850.3_Silent_p.Q162Q|CELF2_ENST00000354897.3_Silent_p.Q162Q	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	186	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CAATGGCACAGAATGCAATCA	0.448																																																	0													190.0	175.0	180.0					10																	11308601		1986	4172	6158	SO:0001819	synonymous_variant	10659			U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.558G>A	10.37:g.11308601G>A			B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA	p.Q193	ENST00000379261.4	37	c.579	CCDS44354.1	10																																																																																			CELF2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.448	CELF2-201	KNOWN	basic|CCDS	protein_coding	CELF2	HGNC	protein_coding		G			11308601	+1	no_errors	ENST00000450189	ensembl	human	known	70_37	silent	SNP	1.000	A
CENPJ	55835	genome.wustl.edu	37	13	25458528	25458528	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr13:25458528T>C	ENST00000381884.4	-	14	3736	c.3551A>G	c.(3550-3552)gAt>gGt	p.D1184G	CENPJ_ENST00000493190.1_5'Flank|CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1184					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGTCTTCCCATCTGCACTCAC	0.433																																																	0													141.0	129.0	133.0					13																	25458528		2203	4300	6503	SO:0001583	missense	55835			AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3551A>G	13.37:g.25458528T>C	ENSP00000371308:p.Asp1184Gly		Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	pfam_Tcp10_C_dom	p.D1184G	ENST00000381884.4	37	c.3551	CCDS9310.1	13	.	.	.	.	.	.	.	.	.	.	T	25.9	4.682874	0.88542	.	.	ENSG00000151849	ENST00000381884	D	0.81579	-1.51	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.86028	2.79	0.80722	D	1	P	0.50272	0.933	P	0.62298	0.9	D	0.91159	0.4959	10	0.72032	D	0.01	.	15.3655	0.74519	0.0:0.0:0.0:1.0	.	1184	Q9HC77	CENPJ_HUMAN	G	1184	ENSP00000371308:D1184G	ENSP00000371308:D1184G	D	-	2	0	CENPJ	24356528	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.313000	0.78978	2.271000	0.75665	0.459000	0.35465	GAT	CENPJ	-	pfam_Tcp10_C_dom		0.433	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPJ	HGNC	protein_coding	OTTHUMT00000044209.1	T	NM_018451		25458528	-1	no_errors	ENST00000381884	ensembl	human	known	70_37	missense	SNP	1.000	C
CFI	3426	genome.wustl.edu	37	4	110678930	110678930	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:110678930G>A	ENST00000394634.2	-	7	1100	c.893C>T	c.(892-894)tCt>tTt	p.S298F	CFI_ENST00000512148.1_Intron|CFI_ENST00000394635.3_Missense_Mutation_p.S306F	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	298					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTGAGTCACAGATGCAAAGCC	0.254																																																	0			GRCh37	CD057022	CFI	D							18.0	17.0	17.0					4																	110678930		2048	4240	6288	SO:0001583	missense	3426			J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.893C>T	4.37:g.110678930G>A	ENSP00000378130:p.Ser298Phe		O60442	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Srcr_rcpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pfscan_LDrepeatLR_classA_rpt,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S298F	ENST00000394634.2	37	c.893	CCDS34049.1	4	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360817	0.11296	.	.	ENSG00000205403	ENST00000394635;ENST00000394634;ENST00000540104	D;D	0.90504	-2.62;-2.68	3.32	-2.46	0.06461	.	5.272300	0.00166	N	0.000009	T	0.74397	0.3711	N	0.08118	0	0.09310	N	1	B;B	0.33135	0.399;0.399	B;B	0.27076	0.076;0.076	T	0.70861	-0.4757	10	0.07990	T	0.79	4.27	2.6339	0.04952	0.122:0.435:0.2462:0.1969	.	306;298	E7ETH0;P05156	.;CFAI_HUMAN	F	306;298;298	ENSP00000378131:S306F;ENSP00000378130:S298F	ENSP00000378130:S298F	S	-	2	0	CFI	110898379	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.802000	0.01741	-0.624000	0.05611	0.591000	0.81541	TCT	CFI	-	superfamily_LDrepeatLR_classA_rpt		0.254	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	CFI	HGNC	protein_coding		G	NM_000204		110678930	-1	no_errors	ENST00000394634	ensembl	human	known	70_37	missense	SNP	0.000	A
CHI3L1	1116	genome.wustl.edu	37	1	203152837	203152837	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:203152837C>G	ENST00000255409.3	-	5	522	c.397G>C	c.(397-399)Gat>Cat	p.D133H		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	133					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TCCAGCCCATCAAAGCCATGG	0.542																																																	0													135.0	108.0	117.0					1																	203152837		2203	4300	6503	SO:0001583	missense	1116			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.397G>C	1.37:g.203152837C>G	ENSP00000255409:p.Asp133His		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.D133H	ENST00000255409.3	37	c.397	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448579	0.84101	.	.	ENSG00000133048	ENST00000255409	T	0.21932	1.98	5.69	5.69	0.88448	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000016	T	0.57946	0.2088	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.67894	-0.5552	10	0.87932	D	0	-24.2893	17.3057	0.87194	0.0:1.0:0.0:0.0	.	133	P36222	CH3L1_HUMAN	H	133	ENSP00000255409:D133H	ENSP00000255409:D133H	D	-	1	0	CHI3L1	201419460	1.000000	0.71417	0.992000	0.48379	0.734000	0.41952	5.375000	0.66173	2.664000	0.90586	0.655000	0.94253	GAT	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.542	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	C	NM_001276		203152837	-1	no_errors	ENST00000255409	ensembl	human	known	70_37	missense	SNP	1.000	G
CHL1	10752	genome.wustl.edu	37	3	425540	425540	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:425540C>G	ENST00000256509.2	+	19	2860	c.2218C>G	c.(2218-2220)Caa>Gaa	p.Q740E	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.Q724E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCAAGCCTCTCAACCCAAGGA	0.343																																																	0													145.0	145.0	145.0					3																	425540		2203	4299	6502	SO:0001583	missense	10752			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2218C>G	3.37:g.425540C>G	ENSP00000256509:p.Gln740Glu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	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.Q740E	ENST00000256509.2	37	c.2218	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	C	0.225	-1.025536	0.02061	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.56941	0.43;0.43	4.67	3.72	0.42706	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.321670	0.30193	N	0.010191	T	0.16727	0.0402	N	0.00823	-1.155	0.27425	N	0.954177	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.15484	0.013;0.013;0.01	T	0.28870	-1.0030	10	0.02654	T	1	.	8.4096	0.32636	0.1345:0.5229:0.3427:0.0	.	724;724;740	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	E	740;724	ENSP00000256509:Q740E;ENSP00000380628:Q724E	ENSP00000256509:Q740E	Q	+	1	0	CHL1	400540	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	1.142000	0.31540	2.295000	0.77249	0.555000	0.69702	CAA	CHL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.343	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	C	NM_006614		425540	+1	no_errors	ENST00000256509	ensembl	human	known	70_37	missense	SNP	1.000	G
CLDN2	9075	genome.wustl.edu	37	X	106171764	106171764	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:106171764G>C	ENST00000541806.1	+	2	825	c.306G>C	c.(304-306)atG>atC	p.M102I	CLDN2_ENST00000540876.1_Missense_Mutation_p.M102I|CLDN2_ENST00000336803.1_Missense_Mutation_p.M102I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	102					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGGTGGGCATGAGATGCACAG	0.577																																																	0													135.0	108.0	117.0					X																	106171764		2203	4300	6503	SO:0001583	missense	9075			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.306G>C	X.37:g.106171764G>C	ENSP00000441283:p.Met102Ile		B2R6B9	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.M102I	ENST00000541806.1	37	c.306	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514510	0.64522	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89270	-2.49;-2.49;-2.49	5.25	5.25	0.73442	.	0.036719	0.85682	D	0.000000	D	0.92107	0.7498	M	0.73598	2.24	0.80722	D	1	D	0.58970	0.984	P	0.54544	0.755	D	0.92028	0.5631	10	0.44086	T	0.13	.	15.266	0.73663	0.0:0.0:1.0:0.0	.	102	P57739	CLD2_HUMAN	I	102	ENSP00000441283:M102I;ENSP00000443230:M102I;ENSP00000336571:M102I	ENSP00000336571:M102I	M	+	3	0	CLDN2	106058420	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	7.960000	0.87893	2.195000	0.70347	0.523000	0.50628	ATG	CLDN2	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin		0.577	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	HGNC	protein_coding	OTTHUMT00000057815.1	G			106171764	+1	no_errors	ENST00000336803	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTRL	11064	genome.wustl.edu	37	9	123917162	123917162	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:123917162G>A	ENST00000373855.1	+	27	4596	c.4336G>A	c.(4336-4338)Gag>Aag	p.E1446K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1446K|CNTRL_ENST00000373850.1_Missense_Mutation_p.E894K|CNTRL_ENST00000373847.1_Missense_Mutation_p.E894K|CNTRL_ENST00000373844.1_5'Flank			Q7Z7A1	CNTRL_HUMAN	centriolin	1446					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)		p.E1446K(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGCAGAGGCTGAGAGTGAACT	0.463																																																	1	Substitution - Missense(1)	lung(1)											205.0	185.0	192.0					9																	123917162		2203	4300	6503	SO:0001583	missense	11064			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.4336G>A	9.37:g.123917162G>A	ENSP00000362962:p.Glu1446Lys		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.E1446K	ENST00000373855.1	37	c.4336	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002170	0.93227	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373850;ENST00000373847;ENST00000431571;ENST00000373845	T;T;T;T;D	0.82167	0.8;0.8;0.8;0.8;-1.58	5.58	5.58	0.84498	.	.	.	.	.	D	0.85155	0.5632	M	0.61703	1.905	0.48830	D	0.999711	D	0.58620	0.983	P	0.51016	0.656	T	0.82843	-0.0257	9	0.27785	T	0.31	.	16.0216	0.80499	0.0:0.1342:0.8658:0.0	.	1446	Q7Z7A1	CNTRL_HUMAN	K	1446;1446;1446;202;894;894;115;115	ENSP00000362962:E1446K;ENSP00000238341:E1446K;ENSP00000362956:E894K;ENSP00000362953:E894K;ENSP00000413014:E115K	ENSP00000238341:E1446K	E	+	1	0	CNTRL	122956983	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.978000	0.70501	2.769000	0.95229	0.655000	0.94253	GAG	CNTRL	-	NULL		0.463	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	G	NM_007018		123917162	+1	no_errors	ENST00000238341	ensembl	human	known	70_37	missense	SNP	1.000	A
COA4	51287	genome.wustl.edu	37	11	73584276	73584276	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:73584276C>T	ENST00000355693.4	-	2	395	c.148G>A	c.(148-150)Gac>Aac	p.D50N	COA4_ENST00000541455.1_Missense_Mutation_p.D59N|COA4_ENST00000537581.1_5'Flank|COA4_ENST00000545127.1_Missense_Mutation_p.D50N|COA4_ENST00000537289.1_Missense_Mutation_p.D50N	NM_016565.2	NP_057649.2	Q9NYJ1	COA4_HUMAN	cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)	50	CHCH.					mitochondrion (GO:0005739)											TGCCGCCAGTCCTGGTGCTGG	0.617																																																	0													68.0	64.0	65.0					11																	73584276		2200	4293	6493	SO:0001583	missense	51287			AF242180	CCDS8225.1	11q13.4	2013-10-18	2012-10-15	2012-10-15		ENSG00000181924		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Mitochondrial respiratory chain complex assembly factors"""	24604	protein-coding gene	gene with protein product		608016	"""coiled-coil-helix-coiled-coil-helix domain containing 8"""	CHCHD8		11085516, 20624914	Standard	NM_016565		Approved	E2IG2, CMC3	uc001ouj.3	Q9NYJ1		ENST00000355693.4:c.148G>A	11.37:g.73584276C>T	ENSP00000347919:p.Asp50Asn		B2RAA0|Q69YU4	Missense_Mutation	SNP	NULL	p.D59N	ENST00000355693.4	37	c.175	CCDS8225.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.951082	0.97139	.	.	ENSG00000181924	ENST00000355693;ENST00000545127;ENST00000541455;ENST00000537289	T;T;T	0.79653	-1.29;-1.29;-1.29	6.17	6.17	0.99709	CHCH (1);	0.000000	0.85682	D	0.000000	D	0.90403	0.6996	.	.	.	0.53005	D	0.999968	D	0.89917	1.0	D	0.80764	0.994	D	0.90589	0.4535	9	0.87932	D	0	0.3441	18.3732	0.90420	0.0:1.0:0.0:0.0	.	50	Q9NYJ1	CHCH8_HUMAN	N	50;50;59;50	ENSP00000347919:D50N;ENSP00000443795:D50N;ENSP00000437772:D50N	ENSP00000347919:D50N	D	-	1	0	CHCHD8	73261924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.891000	0.75639	2.941000	0.99782	0.655000	0.94253	GAC	COA4	-	NULL		0.617	COA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COA4	HGNC	protein_coding	OTTHUMT00000397878.1	C	NM_016565		73584276	-1	no_errors	ENST00000541455	ensembl	human	known	70_37	missense	SNP	1.000	T
COIL	8161	genome.wustl.edu	37	17	55027619	55027619	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:55027619C>G	ENST00000240316.4	-	2	1018	c.984G>C	c.(982-984)ttG>ttC	p.L328F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	328						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TCGATGACATCAAGCATTGGT	0.522																																																	0													87.0	83.0	85.0					17																	55027619		2203	4300	6503	SO:0001583	missense	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.984G>C	17.37:g.55027619C>G	ENSP00000240316:p.Leu328Phe		B2R931	Missense_Mutation	SNP	NULL	p.L328F	ENST00000240316.4	37	c.984	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758043	0.31137	.	.	ENSG00000121058	ENST00000240316	.	.	.	5.2	-2.06	0.07298	.	2.731780	0.00799	N	0.001415	T	0.22085	0.0532	N	0.19112	0.55	0.09310	N	1	B	0.29508	0.246	B	0.29524	0.103	T	0.10706	-1.0618	9	0.49607	T	0.09	8.7078	1.6914	0.02853	0.1166:0.3822:0.2276:0.2736	.	328	P38432	COIL_HUMAN	F	328	.	ENSP00000240316:L328F	L	-	3	2	COIL	52382618	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.795000	0.04580	-0.430000	0.07318	0.502000	0.49764	TTG	COIL	-	NULL		0.522	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	C			55027619	-1	no_errors	ENST00000240316	ensembl	human	known	70_37	missense	SNP	0.000	G
COIL	8161	genome.wustl.edu	37	17	55028230	55028230	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:55028230C>G	ENST00000240316.4	-	2	407	c.373G>C	c.(373-375)Gat>Cat	p.D125H		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	125						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TATTTGCAATCTGGTTCAGTT	0.383																																																	0													127.0	128.0	127.0					17																	55028230		2203	4300	6503	SO:0001583	missense	8161			U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.373G>C	17.37:g.55028230C>G	ENSP00000240316:p.Asp125His		B2R931	Missense_Mutation	SNP	NULL	p.D125H	ENST00000240316.4	37	c.373	CCDS11592.1	17	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008193	0.35415	.	.	ENSG00000121058	ENST00000240316	T	0.43688	0.94	5.84	4.68	0.58851	.	0.850210	0.10769	N	0.636283	T	0.44117	0.1278	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	P	0.54100	0.742	T	0.32719	-0.9896	10	0.46703	T	0.11	-0.0856	13.7987	0.63186	0.0:0.9158:0.0:0.0842	.	125	P38432	COIL_HUMAN	H	125	ENSP00000240316:D125H	ENSP00000240316:D125H	D	-	1	0	COIL	52383229	0.001000	0.12720	0.007000	0.13788	0.183000	0.23260	1.248000	0.32827	2.748000	0.94277	0.650000	0.86243	GAT	COIL	-	NULL		0.383	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	C			55028230	-1	no_errors	ENST00000240316	ensembl	human	known	70_37	missense	SNP	0.002	G
COL11A2	1302	genome.wustl.edu	37	6	33151975	33151975	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:33151975C>G	ENST00000341947.2	-	8	1293	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q	COL11A2_ENST00000374713.1_Missense_Mutation_p.E309Q|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.E330Q|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.E335Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	356	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTGTCTCCTCACGATAATCA	0.567																																					Melanoma(1;90 116 3946 5341 17093)												0													76.0	72.0	73.0					6																	33151975		2203	4300	6503	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1066G>C	6.37:g.33151975C>G	ENSP00000339915:p.Glu356Gln		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E356Q	ENST00000341947.2	37	c.1066		6	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001801	0.35320	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.90563	-2.34;-2.4;-2.42;-2.39;-2.69	3.74	3.74	0.42951	.	0.882556	0.09464	U	0.798543	T	0.77432	0.4129	N	0.08118	0	0.80722	D	1	D	0.58268	0.982	P	0.49853	0.624	T	0.70846	-0.4761	10	0.17832	T	0.49	.	11.3108	0.49362	0.0:1.0:0.0:0.0	.	356	P13942	COBA2_HUMAN	Q	356;335;330;309;356	ENSP00000339915:E356Q;ENSP00000350079:E335Q;ENSP00000363846:E330Q;ENSP00000363845:E309Q;ENSP00000405520:E356Q	ENSP00000339915:E356Q	E	-	1	0	COL11A2	33259953	0.981000	0.34729	0.994000	0.49952	0.983000	0.72400	2.171000	0.42453	2.360000	0.80028	0.549000	0.68633	GAG	COL11A2	-	NULL		0.567	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	HGNC	protein_coding		C			33151975	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	missense	SNP	0.995	G
COL13A1	1305	genome.wustl.edu	37	10	71712663	71712663	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:71712663G>C	ENST00000398978.3	+	38	2543	c.2051G>C	c.(2050-2052)aGa>aCa	p.R684T	COL13A1_ENST00000398964.3_Missense_Mutation_p.R655T|COL13A1_ENST00000522165.1_Missense_Mutation_p.R653T|COL13A1_ENST00000398968.3_Missense_Mutation_p.R665T|COL13A1_ENST00000517713.1_Missense_Mutation_p.R635T|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000356340.3_Missense_Mutation_p.R684T|COL13A1_ENST00000398971.3_Missense_Mutation_p.R669T|COL13A1_ENST00000398974.3_Missense_Mutation_p.R672T|COL13A1_ENST00000398969.3_Missense_Mutation_p.R612T|COL13A1_ENST00000398972.3_Missense_Mutation_p.R670T|COL13A1_ENST00000398973.3_Missense_Mutation_p.R658T|COL13A1_ENST00000354547.3_Missense_Mutation_p.R662T|COL13A1_ENST00000357811.3_Missense_Mutation_p.R650T|COL13A1_ENST00000398966.3_Missense_Mutation_p.R662T|COL13A1_ENST00000520267.1_Missense_Mutation_p.R612T	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						AAAGGCTCTAGAGGGCCTAAA	0.433																																																	0													79.0	84.0	83.0					10																	71712663		1836	4093	5929	SO:0001583	missense	1305			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.2051G>C	10.37:g.71712663G>C	ENSP00000381949:p.Arg684Thr			Missense_Mutation	SNP	pfam_Collagen	p.R684T	ENST00000398978.3	37	c.2051	CCDS44419.1	10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	12.02|12.02|12.02	1.812114|1.812114|1.812114	0.32053|0.32053|0.32053	.|.|.	.|.|.	ENSG00000197467|ENSG00000197467|ENSG00000197467	ENST00000398975|ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165|ENST00000456019	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.96041|.	.|-2.88;-3.89;-2.88;-2.88;-2.88;-3.89;-2.88;-3.89;-3.17;-2.88;-2.88;-3.17;-3.89;-3.17;-3.17|.	5.35|5.35|5.35	4.45|4.45|4.45	0.53987|0.53987|0.53987	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.58032|0.58032|.	0.2094|0.2094|.	L|L|L	0.40543|0.40543|0.40543	1.245|1.245|1.245	0.41038|0.41038|0.41038	D|D|D	0.985207|0.985207|0.985207	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.69078|.	.|0.991;0.997;0.996;0.996;0.995;0.997;0.997;0.997;0.997;0.997;0.996;0.996;0.992;0.996;0.996;0.997;0.996|.	.|D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	.|0.80764|.	.|0.991;0.994;0.99;0.99;0.989;0.994;0.994;0.989;0.994;0.994;0.99;0.99;0.974;0.99;0.99;0.994;0.99|.	T|T|.	0.55921|0.55921|.	-0.8064|-0.8064|.	5|10|.	.|0.31617|.	.|T|.	.|0.26|.	-17.2149|-17.2149|-17.2149	14.187|14.187|14.187	0.65612|0.65612|0.65612	0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0|0.0724:0.0:0.9276:0.0	.|.|.	.|612;684;669;670;658;662;665;670;672;669;650;635;658;653;662;655;684|.	.|B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;Q5TAT6-3;Q5TAT6-4;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987|.	.|.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.|.	Q|T|Y	214|672;669;665;662;655;612;684;670;658;684;662;650;612;635;653|140	.|ENSP00000381946:R672T;ENSP00000381943:R669T;ENSP00000381940:R665T;ENSP00000381938:R662T;ENSP00000381936:R655T;ENSP00000381941:R612T;ENSP00000348695:R684T;ENSP00000381944:R670T;ENSP00000381945:R658T;ENSP00000381949:R684T;ENSP00000346553:R662T;ENSP00000350463:R650T;ENSP00000428057:R612T;ENSP00000430061:R635T;ENSP00000428342:R653T|.	.|ENSP00000346553:R662T|.	E|R|X	+|+|+	1|2|3	0|0|2	COL13A1|COL13A1|COL13A1	71382669|71382669|71382669	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	6.534000|6.534000|6.534000	0.73833|0.73833|0.73833	1.390000|1.390000|1.390000	0.46547|0.46547|0.46547	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GAG|AGA|TAG	COL13A1	-	pfam_Collagen		0.433	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	G	NM_005203		71712663	+1	no_errors	ENST00000356340	ensembl	human	known	70_37	missense	SNP	1.000	C
COMMD7	149951	genome.wustl.edu	37	20	31294509	31294509	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:31294509G>C	ENST00000278980.6	-	4	900	c.295C>G	c.(295-297)Ctg>Gtg	p.L99V	COMMD7_ENST00000446419.2_Missense_Mutation_p.L98V	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	99					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						GACCTACCCAGAGTTATGAAA	0.473																																																	0													80.0	77.0	78.0					20																	31294509		1914	4127	6041	SO:0001583	missense	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.295C>G	20.37:g.31294509G>C	ENSP00000278980:p.Leu99Val		A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Missense_Mutation	SNP	pfam_HCaRG	p.L99V	ENST00000278980.6	37	c.295	CCDS42864.1	20	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933446	0.52866	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	T;T	0.15017	2.46;2.46	5.53	4.59	0.56863	.	0.068564	0.64402	D	0.000011	T	0.40040	0.1101	M	0.77313	2.365	0.52501	D	0.999953	D;D	0.76494	0.999;0.999	D;D	0.68943	0.911;0.961	T	0.29088	-1.0023	10	0.52906	T	0.07	.	11.797	0.52106	0.0808:0.0:0.9192:0.0	.	98;99	Q86VX2-2;Q86VX2	.;COMD7_HUMAN	V	99;98	ENSP00000278980:L99V;ENSP00000395339:L98V	ENSP00000278980:L99V	L	-	1	2	COMMD7	30758170	1.000000	0.71417	0.998000	0.56505	0.433000	0.31745	3.890000	0.56220	1.582000	0.49881	-0.122000	0.15005	CTG	COMMD7	-	pfam_HCaRG		0.473	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COMMD7	HGNC	protein_coding	OTTHUMT00000078648.2	G	NM_053041		31294509	-1	no_errors	ENST00000278980	ensembl	human	known	70_37	missense	SNP	1.000	C
CPQ	10404	genome.wustl.edu	37	8	97847330	97847330	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:97847330C>T	ENST00000220763.5	+	3	773	c.563C>T	c.(562-564)aCg>aTg	p.T188M		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	188					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										CAATACCGAACGCAGGGGGCG	0.498																																																	0													101.0	99.0	100.0					8																	97847330		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.563C>T	8.37:g.97847330C>T	ENSP00000220763:p.Thr188Met		B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.T188M	ENST00000220763.5	37	c.563	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466427	0.04476	.	.	ENSG00000104324	ENST00000220763	T	0.45276	0.9	5.63	-1.26	0.09376	.	1.335560	0.04718	N	0.418871	T	0.20740	0.0499	N	0.19112	0.55	0.09310	N	1	B;B	0.34399	0.452;0.019	B;B	0.20384	0.029;0.018	T	0.11397	-1.0589	10	0.37606	T	0.19	-16.6891	1.8025	0.03074	0.1138:0.2966:0.2174:0.3722	.	188;188	B5MDX4;Q9Y646	.;PGCP_HUMAN	M	188	ENSP00000220763:T188M	ENSP00000220763:T188M	T	+	2	0	AC010859.1	97916506	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.083000	0.11286	-0.135000	0.11495	-0.302000	0.09304	ACG	CPQ	-	NULL		0.498	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	C	NM_016134		97847330	+1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	0.000	T
CRB1	23418	genome.wustl.edu	37	1	197297588	197297588	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:197297588C>G	ENST00000367400.3	+	2	242	c.107C>G	c.(106-108)tCa>tGa	p.S36*	CRB1_ENST00000367399.2_Nonsense_Mutation_p.S36*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.S36*|CRB1_ENST00000535699.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	36	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGGTGCCTCTCAAATTCTTGC	0.308																																																	0													52.0	52.0	52.0					1																	197297588		2203	4300	6503	SO:0001587	stop_gained	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.107C>G	1.37:g.197297588C>G	ENSP00000356370:p.Ser36*		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Nonsense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S36*	ENST00000367400.3	37	c.107	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854240	0.71719	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	.	.	.	5.52	3.66	0.41972	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	9.3355	0.38047	0.0:0.7828:0.0:0.2172	.	.	.	.	X	36	.	ENSP00000356369:S36X	S	+	2	0	CRB1	195564211	0.844000	0.29557	0.271000	0.24616	0.948000	0.59901	2.920000	0.48844	0.805000	0.34159	0.655000	0.94253	TCA	CRB1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.308	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	C	NM_201253		197297588	+1	no_errors	ENST00000367400	ensembl	human	known	70_37	nonsense	SNP	0.849	G
CROT	54677	genome.wustl.edu	37	7	87022120	87022120	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:87022120G>T	ENST00000331536.3	+	16	1764	c.1579G>T	c.(1579-1581)Gac>Tac	p.D527Y	CROT_ENST00000442291.1_Missense_Mutation_p.D527Y|CROT_ENST00000419147.2_Missense_Mutation_p.D555Y	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	527					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACTCTTTACGGACCCACTTTT	0.363																																																	0													96.0	98.0	97.0					7																	87022120		2202	4299	6501	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1579G>T	7.37:g.87022120G>T	ENSP00000331981:p.Asp527Tyr		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.D527Y	ENST00000331536.3	37	c.1579	CCDS5604.1	7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657085	0.88154	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	T;T;T	0.58210	0.35;0.35;0.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86376	0.1726	10	0.87932	D	0	-24.2717	20.6593	0.99626	0.0:0.0:1.0:0.0	.	555;527	E7EQF2;Q9UKG9	.;OCTC_HUMAN	Y	555;527;527	ENSP00000413575:D555Y;ENSP00000331981:D527Y;ENSP00000411983:D527Y	ENSP00000331981:D527Y	D	+	1	0	CROT	86860056	1.000000	0.71417	0.971000	0.41717	0.966000	0.64601	7.820000	0.86633	2.885000	0.99019	0.655000	0.94253	GAC	CROT	-	pfam_Carn_acyl_trans		0.363	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROT	HGNC	protein_coding	OTTHUMT00000253485.1	G	NM_021151		87022120	+1	no_errors	ENST00000331536	ensembl	human	known	70_37	missense	SNP	1.000	T
CRYGD	1421	genome.wustl.edu	37	2	208986568	208986568	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:208986568G>A	ENST00000264376.4	-	3	381	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	118	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GGATTTCATTGAAGCGGAAGC	0.552																																																	0													120.0	115.0	117.0					2																	208986568		2203	4300	6503	SO:0001819	synonymous_variant	1421				CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.354C>T	2.37:g.208986568G>A			Q17RF7|Q53R51|Q99681	Silent	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.F118	ENST00000264376.4	37	c.354	CCDS2378.1	2																																																																																			CRYGD	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin		0.552	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGD	HGNC	protein_coding	OTTHUMT00000256476.2	G	NM_006891		208986568	-1	no_errors	ENST00000264376	ensembl	human	known	70_37	silent	SNP	0.000	A
CSE1L	1434	genome.wustl.edu	37	20	47701908	47701908	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:47701908G>A	ENST00000262982.2	+	16	1831	c.1708G>A	c.(1708-1710)Gaa>Aaa	p.E570K	CSE1L_ENST00000542325.1_Missense_Mutation_p.E353K|CSE1L_ENST00000396192.3_Missense_Mutation_p.E514K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	570					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCAGAAAATGAATATATTAT	0.403																																																	0													82.0	80.0	81.0					20																	47701908		2203	4300	6503	SO:0001583	missense	1434			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1708G>A	20.37:g.47701908G>A	ENSP00000262982:p.Glu570Lys		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E570K	ENST00000262982.2	37	c.1708	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	34	5.379745	0.95945	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.56103	0.48;0.48;0.48	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77864	0.4194	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.996;0.998;1.0	D;D;D;D;D	0.79784	0.968;0.99;0.985;0.979;0.993	T	0.79995	-0.1568	10	0.48119	T	0.1	-20.6253	19.3797	0.94527	0.0:0.0:1.0:0.0	.	259;353;514;514;570	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	K	168;570;353;514	ENSP00000262982:E570K;ENSP00000446477:E353K;ENSP00000379495:E514K	ENSP00000262982:E570K	E	+	1	0	CSE1L	47135315	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.660000	0.90430	0.655000	0.94253	GAA	CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold		0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	G	NM_001316		47701908	+1	no_errors	ENST00000262982	ensembl	human	known	70_37	missense	SNP	1.000	A
CSTF2	1478	genome.wustl.edu	37	X	100087788	100087788	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:100087788G>T	ENST00000372972.2	+	10	1113	c.1097G>T	c.(1096-1098)gGa>gTa	p.G366V	CSTF2_ENST00000415585.2_Missense_Mutation_p.G386V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	366	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGAGCCGAGGACCACCCCCA	0.547																																																	0													42.0	35.0	37.0					X																	100087788		2203	4300	6503	SO:0001583	missense	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1097G>T	X.37:g.100087788G>T	ENSP00000362063:p.Gly366Val		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G386V	ENST00000372972.2	37	c.1157	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104420	0.76983	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.32272	1.46;2.27	5.02	5.02	0.67125	.	0.046260	0.85682	D	0.000000	T	0.52075	0.1712	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.51624	-0.8682	10	0.48119	T	0.1	-8.3179	17.5534	0.87884	0.0:0.0:1.0:0.0	.	386;349;366	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	386;366;342	ENSP00000387996:G386V;ENSP00000362063:G366V	ENSP00000362063:G366V	G	+	2	0	CSTF2	99974444	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.211000	0.65219	2.071000	0.62044	0.506000	0.49869	GGA	CSTF2	-	NULL		0.547	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	G	NM_001325		100087788	+1	no_errors	ENST00000415585	ensembl	human	known	70_37	missense	SNP	1.000	T
CTC1	80169	genome.wustl.edu	37	17	8135226	8135226	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:8135226G>T	ENST00000315684.8	-	13	2387	c.2380C>A	c.(2380-2382)Cag>Aag	p.Q794K		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	794					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						TTTACCTTCTGATCATTGTCG	0.602																																																	0													99.0	107.0	105.0					17																	8135226		1910	4128	6038	SO:0001583	missense	80169			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2380C>A	17.37:g.8135226G>T	ENSP00000313759:p.Gln794Lys		B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.Q794K	ENST00000315684.8	37	c.2380	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637421	0.29157	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82984	-1.67;-1.67	5.8	3.77	0.43336	.	0.428123	0.24996	N	0.033946	T	0.78362	0.4271	L	0.60455	1.87	0.25800	N	0.984515	B	0.11235	0.004	B	0.09377	0.004	T	0.68922	-0.5281	10	0.51188	T	0.08	-1.4314	9.4417	0.38673	0.0:0.1567:0.6803:0.163	.	794	Q2NKJ3	CTC1_HUMAN	K	794;759	ENSP00000313759:Q794K;ENSP00000396018:Q759K	ENSP00000313759:Q794K	Q	-	1	0	CTC1	8075951	0.896000	0.30565	0.624000	0.29186	0.974000	0.67602	1.590000	0.36654	0.766000	0.33244	-0.182000	0.12963	CAG	CTC1	-	NULL		0.602	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	G	NM_025099		8135226	-1	no_errors	ENST00000315684	ensembl	human	known	70_37	missense	SNP	0.617	T
CUL4B	8450	genome.wustl.edu	37	X	119678348	119678348	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:119678348C>G	ENST00000404115.3	-	8	1526	c.1125G>C	c.(1123-1125)ctG>ctC	p.L375L	CUL4B_ENST00000336592.6_Silent_p.L362L|CUL4B_ENST00000371322.5_Silent_p.L357L|snoU13_ENST00000605987.1_RNA	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	375					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCAAATCAGACAGCATGCTTA	0.393																																																	0													110.0	95.0	100.0					X																	119678348		2203	4300	6503	SO:0001819	synonymous_variant	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1125G>C	X.37:g.119678348C>G			B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L375	ENST00000404115.3	37	c.1125	CCDS35379.1	X																																																																																			CUL4B	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.393	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	C	NM_003588		119678348	-1	no_errors	ENST00000404115	ensembl	human	known	70_37	silent	SNP	0.051	G
CXCR6	10663	genome.wustl.edu	37	3	45988864	45988864	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:45988864G>C	ENST00000458629.1	+	1	2354	c.891G>C	c.(889-891)aaG>aaC	p.K297N	CXCR6_ENST00000304552.4_Missense_Mutation_p.K297N|FYCO1_ENST00000535325.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.K297N|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.K297N			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	297					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGTTTCGAAAGAACTTCTGGA	0.483																																					Esophageal Squamous(63;1005 1117 15521 45762 47089)												0													110.0	99.0	103.0					3																	45988864		2203	4300	6503	SO:0001583	missense	10663			AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.891G>C	3.37:g.45988864G>C	ENSP00000395704:p.Lys297Asn		O00575|Q9HCA5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR6,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4	p.K297N	ENST00000458629.1	37	c.891	CCDS2735.1	3	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159640	0.38119	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.38240	1.15;1.15;1.15;1.15	5.83	2.86	0.33363	.	0.378699	0.31156	N	0.008153	T	0.24392	0.0591	L	0.45581	1.43	0.33879	D	0.635846	B	0.15930	0.015	B	0.11329	0.006	T	0.16867	-1.0388	10	0.20046	T	0.44	.	3.3351	0.07098	0.1497:0.1378:0.57:0.1424	.	297	O00574	CXCR6_HUMAN	N	297	ENSP00000396218:K297N;ENSP00000304414:K297N;ENSP00000395704:K297N;ENSP00000396886:K297N	ENSP00000304414:K297N	K	+	3	2	CXCR6	45963868	0.098000	0.21812	0.989000	0.46669	0.981000	0.71138	0.011000	0.13264	0.774000	0.33427	0.561000	0.74099	AAG	CXCR6	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Chemokine_rcpt		0.483	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CXCR6	HGNC	protein_coding	OTTHUMT00000344395.1	G			45988864	+1	no_errors	ENST00000304552	ensembl	human	known	70_37	missense	SNP	0.962	C
DAB2	1601	genome.wustl.edu	37	5	39382892	39382892	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:39382892G>C	ENST00000320816.6	-	10	1636	c.1169C>G	c.(1168-1170)tCt>tGt	p.S390C	DAB2_ENST00000509337.1_Missense_Mutation_p.S369C|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Missense_Mutation_p.S369C|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	390	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGATTTGACAGAGAAGCCGTT	0.522																																																	0													101.0	106.0	104.0					5																	39382892		2203	4300	6503	SO:0001583	missense	1601			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1169C>G	5.37:g.39382892G>C	ENSP00000313391:p.Ser390Cys		A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.S390C	ENST00000320816.6	37	c.1169	CCDS34149.1	5	.	.	.	.	.	.	.	.	.	.	G	8.510	0.866342	0.17250	.	.	ENSG00000153071	ENST00000320816;ENST00000545653;ENST00000509337	T;T;T	0.37411	1.23;1.2;1.2	5.87	3.2	0.36748	.	0.369972	0.26638	N	0.023268	T	0.16514	0.0397	N	0.08118	0	0.22034	N	0.999407	B;B	0.22746	0.044;0.074	B;B	0.13407	0.006;0.009	T	0.11299	-1.0593	10	0.51188	T	0.08	-0.7424	5.7327	0.18049	0.3153:0.0:0.3301:0.3546	.	390;369	P98082;P98082-3	DAB2_HUMAN;.	C	390;369;369	ENSP00000313391:S390C;ENSP00000439919:S369C;ENSP00000426245:S369C	ENSP00000313391:S390C	S	-	2	0	DAB2	39418649	0.995000	0.38212	0.993000	0.49108	0.984000	0.73092	1.922000	0.40045	1.162000	0.42619	-0.262000	0.10625	TCT	DAB2	-	NULL		0.522	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	G	NM_001343		39382892	-1	no_errors	ENST00000320816	ensembl	human	known	70_37	missense	SNP	0.986	C
DDX53	168400	genome.wustl.edu	37	X	23019162	23019162	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:23019162T>C	ENST00000327968.5	+	1	1076	c.988T>C	c.(988-990)Tat>Cat	p.Y330H	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	330	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CATTTGCATATATGGTGGTAG	0.398																																																	0													75.0	72.0	73.0					X																	23019162		2203	4300	6503	SO:0001583	missense	168400			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.988T>C	X.37:g.23019162T>C	ENSP00000368667:p.Tyr330His		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Y330H	ENST00000327968.5	37	c.988	CCDS35214.1	X	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986966	0.35036	.	.	ENSG00000184735	ENST00000327968	T	0.15256	2.44	4.03	4.03	0.46877	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.065051	0.64402	D	0.000005	T	0.44850	0.1313	M	0.88181	2.935	0.40381	D	0.97944	D	0.58970	0.984	D	0.71414	0.973	T	0.53330	-0.8454	10	0.87932	D	0	-15.0042	10.4397	0.44457	0.0:0.0:0.0:1.0	.	330	Q86TM3	DDX53_HUMAN	H	330	ENSP00000368667:Y330H	ENSP00000368667:Y330H	Y	+	1	0	DDX53	22929083	1.000000	0.71417	0.008000	0.14137	0.004000	0.04260	6.724000	0.74747	1.422000	0.47177	0.486000	0.48141	TAT	DDX53	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.398	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	HGNC	protein_coding	OTTHUMT00000056043.1	T	NM_182699		23019162	+1	no_errors	ENST00000327968	ensembl	human	known	70_37	missense	SNP	1.000	C
DGAT2	84649	genome.wustl.edu	37	11	75480139	75480139	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:75480139G>C	ENST00000228027.7	+	1	363	c.103G>C	c.(103-105)Gag>Cag	p.E35Q	DGAT2_ENST00000376262.3_Missense_Mutation_p.E35Q|CTD-2530H12.1_ENST00000499390.2_RNA|DGAT2_ENST00000605608.1_3'UTR	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	35					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GCTGTCGCGCGAGGGGTCTGG	0.667																																					Melanoma(35;811 1096 8354 24009 39363)												0													22.0	29.0	27.0					11																	75480139		2186	4261	6447	SO:0001583	missense	84649				CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.103G>C	11.37:g.75480139G>C	ENSP00000228027:p.Glu35Gln		A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	pfam_DAGAT	p.E35Q	ENST00000228027.7	37	c.103	CCDS31642.1	11	.	.	.	.	.	.	.	.	.	.	G	9.782	1.175687	0.21704	.	.	ENSG00000062282	ENST00000228027;ENST00000376262;ENST00000525612	T;T	0.16597	2.74;2.33	4.41	2.36	0.29203	.	0.955264	0.08772	N	0.896079	T	0.10294	0.0252	L	0.29908	0.895	0.09310	N	1	B;B	0.26775	0.0;0.159	B;B	0.17433	0.0;0.018	T	0.36841	-0.9731	10	0.14656	T	0.56	-21.9982	4.8893	0.13719	0.1119:0.0:0.6791:0.209	.	35;35	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	Q	35;35;32	ENSP00000228027:E35Q;ENSP00000365438:E35Q	ENSP00000228027:E35Q	E	+	1	0	DGAT2	75157787	0.002000	0.14202	0.006000	0.13384	0.343000	0.28985	1.170000	0.31883	0.978000	0.38470	0.555000	0.69702	GAG	DGAT2	-	NULL		0.667	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2	HGNC	protein_coding	OTTHUMT00000383506.1	G	NM_032564		75480139	+1	no_errors	ENST00000228027	ensembl	human	known	70_37	missense	SNP	0.001	C
DNAH2	146754	genome.wustl.edu	37	17	7681472	7681472	+	Silent	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:7681472G>T	ENST00000572933.1	+	34	6785	c.5325G>T	c.(5323-5325)cgG>cgT	p.R1775R	DNAH2_ENST00000389173.2_Silent_p.R1775R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1775	AAA 1. {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)				ACTCGGGCCGGCTCGTCATCA	0.547																																																	0													69.0	67.0	68.0					17																	7681472		2203	4300	6503	SO:0001819	synonymous_variant	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.5325G>T	17.37:g.7681472G>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	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.R1775	ENST00000572933.1	37	c.5325	CCDS32551.1	17																																																																																			DNAH2	-	NULL		0.547	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7681472	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	silent	SNP	1.000	T
DNAH3	55567	genome.wustl.edu	37	16	21071588	21071588	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:21071588G>C	ENST00000261383.3	-	26	3809	c.3810C>G	c.(3808-3810)gtC>gtG	p.V1270V	DNAH3_ENST00000415178.1_Silent_p.V1270V	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1270	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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTTTACCTTGACATATGCTT	0.502																																																	0													189.0	180.0	183.0					16																	21071588		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3810C>G	16.37:g.21071588G>C			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.V1270	ENST00000261383.3	37	c.3810	CCDS10594.1	16																																																																																			DNAH3	-	NULL		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21071588	-1	no_errors	ENST00000261383	ensembl	human	known	70_37	silent	SNP	0.001	C
DNAJC4	3338	genome.wustl.edu	37	11	64001629	64001629	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:64001629G>T	ENST00000321685.3	+	7	1164	c.699G>T	c.(697-699)gaG>gaT	p.E233D	RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000309422.2_5'Flank|DNAJC4_ENST00000321460.5_3'UTR|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank|DNAJC4_ENST00000355040.4_3'UTR	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	233					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						AAGGCCCCGAGATCGTGCCCC	0.701																																																	0													8.0	13.0	11.0					11																	64001629		1872	4079	5951	SO:0001583	missense	3338			AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.699G>T	11.37:g.64001629G>T	ENSP00000396896:p.Glu233Asp		O14716	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E233D	ENST00000321685.3	37	c.699	CCDS41666.1	11	.	.	.	.	.	.	.	.	.	.	g	10.63	1.405557	0.25378	.	.	ENSG00000110011	ENST00000321685	T	0.22945	1.93	5.0	-0.957	0.10350	.	1.318270	0.04873	N	0.446299	T	0.14657	0.0354	N	0.22421	0.69	0.09310	N	0.999993	B	0.25904	0.137	B	0.20767	0.031	T	0.32079	-0.9920	10	0.62326	D	0.03	-1.9103	0.6608	0.00842	0.3255:0.1656:0.3391:0.1698	.	233	Q9NNZ3	DNJC4_HUMAN	D	233	ENSP00000396896:E233D	ENSP00000396896:E233D	E	+	3	2	DNAJC4	63758205	0.000000	0.05858	0.058000	0.19502	0.021000	0.10359	0.442000	0.21628	0.145000	0.18977	0.639000	0.83563	GAG	DNAJC4	-	NULL		0.701	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC4	HGNC	protein_coding	OTTHUMT00000396305.1	G			64001629	+1	no_errors	ENST00000321685	ensembl	human	known	70_37	missense	SNP	0.002	T
DPY19L3	147991	genome.wustl.edu	37	19	32973040	32973040	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:32973040G>A	ENST00000342179.5	+	19	2260	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	DPY19L3_ENST00000392250.2_Missense_Mutation_p.R682H|DPY19L3_ENST00000586987.1_3'UTR	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	682						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GACCACCCTCGCTTCTGTGAA	0.453																																																	0													160.0	161.0	161.0					19																	32973040		2203	4300	6503	SO:0001583	missense	147991				CCDS12422.1	19q13.11	2008-02-05				ENSG00000178904			27120	protein-coding gene	gene with protein product		613894					Standard	NM_207325		Approved		uc002ntg.3	Q6ZPD9		ENST00000342179.5:c.2045G>A	19.37:g.32973040G>A	ENSP00000344937:p.Arg682His		Q68DC7|Q6ZTB7|Q6ZTS2	Missense_Mutation	SNP	pfam_Dpy-19	p.R682H	ENST00000342179.5	37	c.2045	CCDS12422.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.754533	0.96890	.	.	ENSG00000178904	ENST00000392250;ENST00000342179	T;T	0.57436	0.4;0.4	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77542	-0.2549	10	0.72032	D	0.01	-14.1406	20.3495	0.98807	0.0:0.0:1.0:0.0	.	682	Q6ZPD9	D19L3_HUMAN	H	682	ENSP00000376081:R682H;ENSP00000344937:R682H	ENSP00000344937:R682H	R	+	2	0	DPY19L3	37664880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.591000	0.98241	2.814000	0.96858	0.591000	0.81541	CGC	DPY19L3	-	pfam_Dpy-19		0.453	DPY19L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L3	HGNC	protein_coding	OTTHUMT00000450311.1	G	NM_207325		32973040	+1	no_errors	ENST00000342179	ensembl	human	known	70_37	missense	SNP	1.000	A
DSG1	1828	genome.wustl.edu	37	18	28926069	28926069	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:28926069C>G	ENST00000257192.4	+	14	2220	c.2008C>G	c.(2008-2010)Caa>Gaa	p.Q670E	DSG1_ENST00000462981.2_Missense_Mutation_p.Q29E|RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	670					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGAGATATGTCAAGAATACTC	0.408																																																	0													100.0	101.0	100.0					18																	28926069		2203	4300	6503	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2008C>G	18.37:g.28926069C>G	ENSP00000257192:p.Gln670Glu		B7Z845	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin	p.Q670E	ENST00000257192.4	37	c.2008	CCDS11896.1	18	.	.	.	.	.	.	.	.	.	.	C	11.55	1.672593	0.29693	.	.	ENSG00000134760	ENST00000257192	T	0.75821	-0.97	6.02	5.08	0.68730	Cadherin, cytoplasmic domain (1);	0.635481	0.15775	N	0.245260	T	0.54806	0.1881	N	0.14661	0.345	0.26024	N	0.981838	P	0.36282	0.546	B	0.39027	0.288	T	0.49380	-0.8946	10	0.02654	T	1	.	10.6778	0.45796	0.1434:0.7154:0.1412:0.0	.	670	Q02413	DSG1_HUMAN	E	670	ENSP00000257192:Q670E	ENSP00000257192:Q670E	Q	+	1	0	DSG1	27180067	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.155000	0.42301	2.865000	0.98341	0.655000	0.94253	CAA	DSG1	-	pfam_Cadherin_cytoplasmic-dom		0.408	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG1	HGNC	protein_coding	OTTHUMT00000254947.1	C	NM_001942		28926069	+1	no_errors	ENST00000257192	ensembl	human	known	70_37	missense	SNP	0.999	G
DST	667	genome.wustl.edu	37	6	56472808	56472808	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:56472808C>A	ENST00000361203.3	-	36	5992	c.5985G>T	c.(5983-5985)atG>atT	p.M1995I	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.M1669I|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.M1995I|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Missense_Mutation_p.M2173I|DST_ENST00000370769.4_Missense_Mutation_p.M1995I			Q03001	DYST_HUMAN	dystonin	1995					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTATTTATCATTAAATAAG	0.393																																																	0													36.0	35.0	35.0					6																	56472808		1828	4086	5914	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.5985G>T	6.37:g.56472808C>A	ENSP00000354508:p.Met1995Ile		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.M2173I	ENST00000361203.3	37	c.6519		6	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989210	0.53934	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.86694	-0.53;-0.58;0.2;-2.16;-0.62;-0.76	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000004	T	0.81992	0.4940	.	.	.	0.30879	N	0.731676	B	0.24092	0.097	B	0.28139	0.086	T	0.80812	-0.1215	8	0.87932	D	0	.	19.1045	0.93287	0.0:1.0:0.0:0.0	.	1669	Q03001-9	.	I	2173;1995;1669;1995;1995;1669	ENSP00000359790:M2173I;ENSP00000359805:M1995I;ENSP00000393645:M1669I;ENSP00000307959:M1995I;ENSP00000354508:M1995I;ENSP00000404924:M1669I	ENSP00000307959:M1995I	M	-	3	0	DST	56580767	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.794000	0.85869	2.609000	0.88269	0.563000	0.77884	ATG	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56472808	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	A
EBNA1BP2	10969	genome.wustl.edu	37	1	43636553	43636553	+	Intron	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:43636553G>C	ENST00000236051.2	-	4	465				EBNA1BP2_ENST00000472982.1_5'Flank|EBNA1BP2_ENST00000431635.2_Intron|WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2						ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGATAGCTGAGAATCGTAG	0.502																																																	0													132.0	129.0	130.0					1																	43636553		2203	4300	6503	SO:0001627	intron_variant	10969			U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.324-3C>G	1.37:g.43636553G>C			Q96A66	RNA	SNP	-	NULL	ENST00000236051.2	37	NULL	CCDS478.1	1																																																																																			EBNA1BP2	-	-		0.502	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBNA1BP2	HGNC	protein_coding	OTTHUMT00000019015.1	G			43636553	-1	no_errors	ENST00000463906	ensembl	human	known	70_37	rna	SNP	0.988	C
EEF2K	29904	genome.wustl.edu	37	16	22260107	22260107	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:22260107G>C	ENST00000263026.5	+	4	853	c.379G>C	c.(379-381)Gat>Cat	p.D127H		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	127	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				insulin receptor signaling pathway (GO:0008286)|protein autophosphorylation (GO:0046777)|regulation of protein autophosphorylation (GO:0031952)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|elongation factor-2 kinase activity (GO:0004686)|protein kinase activity (GO:0004672)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ATGGCTGGATGATGAAGTTCT	0.562																																					NSCLC(195;1411 2157 20319 27471 51856)												0													141.0	110.0	121.0					16																	22260107		2197	4300	6497	SO:0001583	missense	29904			U93850	CCDS10604.1	16p12	2008-02-05			ENSG00000103319	ENSG00000103319			24615	protein-coding gene	gene with protein product		606968				9144159, 12051769	Standard	NM_013302		Approved	eEF-2K	uc002dki.3	O00418	OTTHUMG00000094771	ENST00000263026.5:c.379G>C	16.37:g.22260107G>C	ENSP00000263026:p.Asp127His		Q8N588	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase	p.D127H	ENST00000263026.5	37	c.379	CCDS10604.1	16	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218880	0.58560	.	.	ENSG00000103319	ENST00000263026	T	0.06218	3.33	4.97	4.97	0.65823	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	T	0.17961	-1.0352	10	0.87932	D	0	-15.3899	18.5985	0.91239	0.0:0.0:1.0:0.0	.	127	O00418	EF2K_HUMAN	H	127	ENSP00000263026:D127H	ENSP00000263026:D127H	D	+	1	0	EEF2K	22167608	1.000000	0.71417	0.368000	0.25939	0.022000	0.10575	9.362000	0.97126	2.463000	0.83235	0.462000	0.41574	GAT	EEF2K	-	superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase		0.562	EEF2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2K	HGNC	protein_coding	OTTHUMT00000211580.2	G	NM_013302		22260107	+1	no_errors	ENST00000263026	ensembl	human	known	70_37	missense	SNP	1.000	C
EHD1	10938	genome.wustl.edu	37	11	64627690	64627690	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:64627690C>T	ENST00000320631.3	-	3	875	c.621G>A	c.(619-621)ctG>ctA	p.L207L	EHD1_ENST00000359393.2_Silent_p.L207L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	207	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CATGGTTCTTCAGAGCCTTGA	0.592																																																	0													90.0	82.0	84.0					11																	64627690		2201	4297	6498	SO:0001819	synonymous_variant	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.621G>A	11.37:g.64627690C>T			O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.L207	ENST00000320631.3	37	c.621	CCDS8084.1	11																																																																																			EHD1	-	pfam_Dynamin_GTPase		0.592	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	C	NM_006795		64627690	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	silent	SNP	1.000	T
EIF1	10209	genome.wustl.edu	37	17	39845183	39845183	+	5'UTR	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39845183G>A	ENST00000469257.1	+	0	39				EIF1_ENST00000591776.1_5'UTR|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_3'UTR			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTCCCCCTTGAGCCCCCTCG	0.687																																					Pancreas(176;1692 2837 16734 17588)												0																																										SO:0001623	5_prime_UTR_variant	10209			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.-108G>A	17.37:g.39845183G>A			Q9UNQ9	RNA	SNP	-	NULL	ENST00000469257.1	37	NULL	CCDS11403.1	17																																																																																			EIF1	-	-		0.687	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1	HGNC	protein_coding	OTTHUMT00000257390.1	G	NM_005801		39845183	+1	no_errors	ENST00000310837	ensembl	human	known	70_37	rna	SNP	0.991	A
EIF1	10209	genome.wustl.edu	37	17	39845441	39845441	+	Intron	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39845441G>T	ENST00000469257.1	+	1	177				EIF1_ENST00000591776.1_Intron|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGGGAAACTTGACCAGGGTCG	0.736																																					Pancreas(176;1692 2837 16734 17588)												0																																										SO:0001627	intron_variant	10209			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.31+120G>T	17.37:g.39845441G>T			Q9UNQ9	RNA	SNP	-	NULL	ENST00000469257.1	37	NULL	CCDS11403.1	17																																																																																			EIF1	-	-		0.736	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1	HGNC	protein_coding	OTTHUMT00000257390.1	G	NM_005801		39845441	+1	no_errors	ENST00000469308	ensembl	human	known	70_37	rna	SNP	0.003	T
EIF1	10209	genome.wustl.edu	37	17	39847105	39847106	+	3'UTR	DNP	TG	TG	AA			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39847105_39847106TG>AA	ENST00000469257.1	+	0	515_516				EIF1_ENST00000591776.1_Intron|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_3'UTR			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GAAGCTTAAGTGAGGATTTCCT	0.411																																					Pancreas(176;1692 2837 16734 17588)												0																																										SO:0001624	3_prime_UTR_variant	10209			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	Exception_encountered	17.37:g.39847105_39847106delinsAA			Q9UNQ9	RNA	SNP	-	NULL	ENST00000469257.1	37	NULL	CCDS11403.1	17																																																																																			EIF1	-	-		0.411	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1	HGNC	protein_coding	OTTHUMT00000257390.1	T|G	NM_005801		39847105|39847106	+1	no_errors	ENST00000310837	ensembl	human	known	70_37	rna	SNP	1.000	A
EIF1	10209	genome.wustl.edu	37	17	39847266	39847266	+	3'UTR	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39847266G>T	ENST00000469257.1	+	0	676				EIF1_ENST00000591776.1_3'UTR|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_3'UTR			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1						dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTCTAGTCTTGAAGTCCCTCA	0.453																																					Pancreas(176;1692 2837 16734 17588)												0																																										SO:0001624	3_prime_UTR_variant	10209			AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.*188G>T	17.37:g.39847266G>T			Q9UNQ9	RNA	SNP	-	NULL	ENST00000469257.1	37	NULL	CCDS11403.1	17																																																																																			EIF1	-	-		0.453	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF1	HGNC	protein_coding	OTTHUMT00000257390.1	G	NM_005801		39847266	+1	no_errors	ENST00000310837	ensembl	human	known	70_37	rna	SNP	1.000	T
EIF2B2	8892	genome.wustl.edu	37	14	75471472	75471472	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:75471472C>G	ENST00000266126.5	+	4	546	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	156					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		AGCCCAGGCTCTGGAGCACAT	0.378																																																	0													77.0	75.0	75.0					14																	75471472		2203	4300	6503	SO:0001583	missense	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.466C>G	14.37:g.75471472C>G	ENSP00000266126:p.Leu156Val		O43201	Missense_Mutation	SNP	pfam_IF-2B-related	p.L156V	ENST00000266126.5	37	c.466	CCDS9836.1	14	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698328	0.48307	.	.	ENSG00000119718	ENST00000266126	D	0.95980	-3.87	5.53	5.53	0.82687	.	0.146062	0.48286	D	0.000196	D	0.91185	0.7223	L	0.39514	1.22	0.51012	D	0.999908	P	0.35033	0.481	B	0.35899	0.213	D	0.87888	0.2682	10	0.02654	T	1	-12.3012	14.4883	0.67631	0.1466:0.8533:0.0:0.0	.	156	P49770	EI2BB_HUMAN	V	156	ENSP00000266126:L156V	ENSP00000266126:L156V	L	+	1	2	EIF2B2	74541225	0.925000	0.31364	0.994000	0.49952	0.967000	0.64934	1.952000	0.40343	2.882000	0.98803	0.655000	0.94253	CTG	EIF2B2	-	pfam_IF-2B-related		0.378	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B2	HGNC	protein_coding	OTTHUMT00000414993.1	C	NM_014239		75471472	+1	no_errors	ENST00000266126	ensembl	human	known	70_37	missense	SNP	0.989	G
ERLIN2	11160	genome.wustl.edu	37	8	37593486	37593487	+	5'Flank	INS	-	-	A	rs112819064		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:37593486_37593487insA	ENST00000276461.5	+	0	0				ERLIN2_ENST00000519638.1_5'Flank|RP11-863K10.7_ENST00000330539.1_Frame_Shift_Ins_p.S177fs|ERLIN2_ENST00000518586.1_5'Flank|ERLIN2_ENST00000335171.6_5'Flank|ERLIN2_ENST00000523107.1_5'Flank|RP11-863K10.2_ENST00000523507.1_RNA|ERLIN2_ENST00000523887.1_5'Flank|ERLIN2_ENST00000397228.2_5'Flank	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2						cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATCAAGGAGAGAAAAAAAAAAA	0.46																																																	0																																										SO:0001631	upstream_gene_variant	0			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005		8.37:g.37593497_37593497dupA	Exception_encountered		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Ins	INS	NULL	p.S177fs	ENST00000276461.5	37	c.530_529	CCDS6095.1	8																																																																																			RP11-863K10.7	-	NULL		0.460	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000183154	Clone_based_vega_gene	protein_coding	OTTHUMT00000376712.2	-	NM_007175		37593487	-1	no_errors	ENST00000330539	ensembl	human	putative	70_37	frame_shift_ins	INS	0.000:0.002	A
SP5	389058	genome.wustl.edu	37	2	171570153	171570153	+	5'Flank	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:171570153C>G	ENST00000375281.3	+	0	0				AC007405.2_ENST00000409786.1_Missense_Mutation_p.Q267H	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor						bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						AGGCTAACCTCTGACGCTGCA	0.627																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053		2.37:g.171570153C>G	Exception_encountered			Missense_Mutation	SNP	NULL	p.Q267H	ENST00000375281.3	37	c.801	CCDS33322.1	2	.	.	.	.	.	.	.	.	.	.	C	6.132	0.392543	0.11638	.	.	ENSG00000222033	ENST00000409786	.	.	.	3.61	-0.376	0.12505	.	.	.	.	.	T	0.31888	0.0811	.	.	.	.	.	.	P	0.39157	0.662	B	0.40134	0.32	T	0.35724	-0.9777	6	0.87932	D	0	.	3.7556	0.08584	0.0:0.4823:0.1854:0.3323	.	267	E9PB92	.	H	267	.	ENSP00000387118:Q267H	Q	-	3	2	AC007405.2	171278399	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.135000	0.10420	-0.092000	0.12417	-0.258000	0.10820	CAG	AC007405.2	-	NULL		0.627	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222033	Clone_based_vega_gene	protein_coding	OTTHUMT00000333670.1	C	XM_371581		171570153	-1	no_errors	ENST00000409786	ensembl	human	novel	70_37	missense	SNP	0.000	G
LINC00431	104355135	genome.wustl.edu	37	13	111642339	111642339	+	lincRNA	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr13:111642339C>T	ENST00000440735.1	+	0	112									long intergenic non-protein coding RNA 431																		TATCGTGCAGCAGTTTTTGGT	0.448																																																	0																																												0			BG181389		13q34	2013-08-08			ENSG00000225760	ENSG00000225760		"""Long non-coding RNAs"""	42766	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000017351		13.37:g.111642339C>T				RNA	SNP	-	NULL	ENST00000440735.1	37	NULL		13																																																																																			RP11-365P13.3	-	-		0.448	LINC00431-001	KNOWN	basic	lincRNA	ENSG00000225760	Clone_based_vega_gene	lincRNA	OTTHUMT00000045793.1	C			111642339	+1	no_errors	ENST00000440735	ensembl	human	putative	70_37	rna	SNP	1.000	T
RP11-782C8.2	0	genome.wustl.edu	37	1	143189128	143189128	+	lincRNA	SNP	G	G	A	rs202058739		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:143189128G>A	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA|RP11-782C8.3_ENST00000425124.1_lincRNA																							TGACTTGGTTGTTTAAACAGC	0.333																																																	0																																												0																															1.37:g.143189128G>A				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.333	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	G			143189128	-1	no_errors	ENST00000447389	ensembl	human	known	70_37	rna	SNP	0.005	A
LOC403323	403323	genome.wustl.edu	37	9	66513551	66513551	+	IGR	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:66513551G>C								RP11-262H14.1 (44241 upstream) : RP11-262H14.7 (3654 downstream)																							GTCAGGTACTGAGCGACCTTT	0.478																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.66513551G>C				RNA	SNP	-	NULL		37	NULL		9																																																																																			RP11-262H14.3	-	-	0	0.478					ENSG00000234665	Clone_based_vega_gene			G			66513551	-1	no_errors	ENST00000586625	ensembl	human	known	70_37	rna	SNP	1.000	C
HSD17B3	3293	genome.wustl.edu	37	9	99012011	99012011	+	Intron	SNP	C	C	T	rs370921348		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:99012011C>T	ENST00000375263.3	-	6	537				HSD17B3_ENST00000375262.2_Intron|HSD17B3_ENST00000464104.1_Intron|RP11-240L7.4_ENST00000448857.1_RNA	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3						androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				TAATGCATTTCGCACATATAT	0.393																																																	0								C		0,4406		0,0,2203	136.0	117.0	123.0			-0.1	0.0	9		123	2,8598	2.2+/-6.3	0,2,4298	no	intron	HSD17B3	NM_000197.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154			99012011	2,13004	2203	4300	6503	SO:0001627	intron_variant	0				CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.489+21G>A	9.37:g.99012011C>T			Q5U0Q6	RNA	SNP	-	NULL	ENST00000375263.3	37	NULL	CCDS6716.1	9																																																																																			RP11-240L7.4	-	-		0.393	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000232283	Clone_based_vega_gene	protein_coding	OTTHUMT00000053259.1	C	NM_000197		99012011	+1	no_errors	ENST00000448857	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-340I6.7	0	genome.wustl.edu	37	7	63353608	63353608	+	lincRNA	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:63353608G>C	ENST00000587736.1	-	0	622																											AGTGCGGGCGGAGGCGACAGG	0.587																																																	0																																												0																															7.37:g.63353608G>C				RNA	SNP	-	NULL	ENST00000587736.1	37	NULL		7																																																																																			RP11-340I6.7	-	-		0.587	RP11-340I6.7-003	KNOWN	basic	lincRNA	ENSG00000236299	Clone_based_vega_gene	lincRNA	OTTHUMT00000447757.1	G			63353608	-1	no_errors	ENST00000433918	ensembl	human	known	70_37	rna	SNP	0.001	C
BCAR1	9564	genome.wustl.edu	37	16	75260587	75260587	+	IGR	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:75260587G>A	ENST00000162330.5	-	0	3221				RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000566982.1_5'Flank	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1						actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCACATCAGCGAGGACTGGGT	0.627																																																	0																																										SO:0001628	intergenic_variant	0			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604		16.37:g.75260587G>A			B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	RNA	SNP	-	NULL	ENST00000162330.5	37	NULL	CCDS10915.1	16																																																																																			RP11-331F4.4	-	-		0.627	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000240338	Clone_based_vega_gene	protein_coding	OTTHUMT00000269017.1	G	NM_014567		75260587	+1	no_errors	ENST00000489723	ensembl	human	known	70_37	rna	SNP	0.027	A
LINC00622	644242	genome.wustl.edu	37	1	120144049	120144049	+	RNA	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:120144049G>A	ENST00000562811.1	-	0	0					NR_036540.1				long intergenic non-protein coding RNA 622																		AGAAGGAGCTGAAGGAGATCA	0.502																																																	0																																												0			AK123168, BC015390		1p12	2012-10-12			ENSG00000260941	ENSG00000260941		"""Long non-coding RNAs"""	44251	non-coding RNA	RNA, long non-coding							Standard	NR_036540		Approved		uc021osv.1		OTTHUMG00000176048		1.37:g.120144049G>A				RNA	SNP	-	NULL	ENST00000562811.1	37	NULL		1																																																																																			RP4-599G15.3	-	-		0.502	LINC00622-001	KNOWN	basic	sense_overlapping	ENSG00000242959	Clone_based_vega_gene	sense_overlapping	OTTHUMT00000431421.1	G	NR_036540		120144049	+1	no_errors	ENST00000450675	ensembl	human	putative	70_37	rna	SNP	0.791	A
EP300	2033	genome.wustl.edu	37	22	41533715	41533715	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:41533715C>T	ENST00000263253.7	+	8	2900	c.1681C>T	c.(1681-1683)Caa>Taa	p.Q561*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	561					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						AACAGCAGCTCAACCATCCAC	0.443			"""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													106.0	92.0	97.0					22																	41533715		2203	4300	6503	SO:0001587	stop_gained	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.1681C>T	22.37:g.41533715C>T	ENSP00000263253:p.Gln561*		B1AKC2	Nonsense_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.Q561*	ENST00000263253.7	37	c.1681	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	49	16.063275	0.99853	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.98	5.98	0.97165	.	0.000000	0.44483	D	0.000443	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-7.138	20.4581	0.99154	0.0:1.0:0.0:0.0	.	.	.	.	X	561	.	ENSP00000263253:Q561X	Q	+	1	0	EP300	39863661	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.992000	0.70609	2.835000	0.97688	0.650000	0.86243	CAA	EP300	-	NULL		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41533715	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EPB41L3	23136	genome.wustl.edu	37	18	5416294	5416294	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:5416294C>T	ENST00000341928.2	-	13	1930	c.1590G>A	c.(1588-1590)agG>agA	p.R530R	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Silent_p.R530R|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	530	Spectrin--actin-binding. {ECO:0000255}.				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						CCTTACACCTCCTACGGAGCT	0.587																																																	0													62.0	63.0	63.0					18																	5416294		2203	4300	6503	SO:0001819	synonymous_variant	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.1590G>A	18.37:g.5416294C>T			B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	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.R530	ENST00000341928.2	37	c.1590	CCDS11838.1	18																																																																																			EPB41L3	-	pirsf_Band_41_protein		0.587	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	HGNC	protein_coding	OTTHUMT00000254424.1	C	NM_012307		5416294	-1	no_errors	ENST00000341928	ensembl	human	known	70_37	silent	SNP	1.000	T
EZH1	2145	genome.wustl.edu	37	17	40880971	40880971	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:40880971C>G	ENST00000428826.2	-	3	111		c.e3-1		EZH1_ENST00000592743.1_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000585893.1_Splice_Site|EZH1_ENST00000590078.1_Intron|EZH1_ENST00000415827.2_Splice_Site			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit						anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTGCTGTAATCTAAGAGAGAC	0.333																																																	0													99.0	99.0	99.0					17																	40880971		2203	4300	6503	SO:0001630	splice_region_variant	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.11-1G>C	17.37:g.40880971C>G			A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Splice_Site	SNP	-	e1-1	ENST00000428826.2	37	c.1-1	CCDS32659.1	17																																																																																			EZH1	-	-		0.333	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991	Intron	40880971	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	splice_site	SNP	0.010	G
FAM184A	79632	genome.wustl.edu	37	6	119345270	119345270	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:119345270C>G	ENST00000338891.7	-	2	1311	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q	FAM184A_ENST00000521531.1_Missense_Mutation_p.E290Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.E170Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E170Q|FAM184A_ENST00000522284.1_Missense_Mutation_p.E170Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	290						extracellular space (GO:0005615)		p.E290K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CCCTGAAATTCTTTTCTAAGA	0.378																																																	1	Substitution - Missense(1)	skin(1)											104.0	98.0	100.0					6																	119345270		1816	4072	5888	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.868G>C	6.37:g.119345270C>G	ENSP00000342604:p.Glu290Gln		B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	superfamily_Prefoldin	p.E290Q	ENST00000338891.7	37	c.868	CCDS43499.1	6	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152745	0.57259	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00352	7.96;7.96;7.96;7.96;7.96	5.04	5.04	0.67666	.	0.051515	0.85682	D	0.000000	T	0.00300	0.0009	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.54964	0.961;0.961;0.969	P;P;P	0.57009	0.756;0.756;0.811	D	0.93014	0.6434	10	0.23302	T	0.38	-16.1661	18.7409	0.91773	0.0:1.0:0.0:0.0	.	290;170;290	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	290;170;170;290;170	ENSP00000342604:E290Q;ENSP00000326608:E170Q;ENSP00000357460:E170Q;ENSP00000430442:E290Q;ENSP00000429826:E170Q	ENSP00000342604:E290Q	E	-	1	0	FAM184A	119386969	1.000000	0.71417	1.000000	0.80357	0.164000	0.22412	7.189000	0.77747	2.506000	0.84524	0.460000	0.39030	GAA	FAM184A	-	NULL		0.378	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM184A	HGNC	protein_coding	OTTHUMT00000042009.3	C	NM_024581		119345270	-1	no_errors	ENST00000338891	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM189A1	23359	genome.wustl.edu	37	15	29443942	29443942	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:29443942G>A	ENST00000261275.4	-	5	624	c.625C>T	c.(625-627)Cag>Tag	p.Q209*		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	209						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						CTCACCATCTGCAGGACATCG	0.592																																																	0													118.0	102.0	107.0					15																	29443942		692	1591	2283	SO:0001587	stop_gained	23359				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.625C>T	15.37:g.29443942G>A	ENSP00000261275:p.Gln209*		A0PK09	Nonsense_Mutation	SNP	pfam_CD20-like	p.Q209*	ENST00000261275.4	37	c.625	CCDS45198.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.207214	0.97376	.	.	ENSG00000104059	ENST00000261275	.	.	.	5.14	5.14	0.70334	.	0.133481	0.51477	D	0.000093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-24.9946	16.4563	0.84015	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000261275:Q209X	Q	-	1	0	FAM189A1	27231234	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.803000	0.91915	2.561000	0.86390	0.563000	0.77884	CAG	FAM189A1	-	NULL		0.592	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1	G	NM_015307		29443942	-1	no_errors	ENST00000261275	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM27E3	100131997	genome.wustl.edu	37	9	67786101	67786101	+	Missense_Mutation	SNP	C	C	T	rs1656261		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:67786101C>T	ENST00000455764.2	-	2	348	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	RP11-12A20.2_ENST00000515258.2_RNA			Q08E93	F27E3_HUMAN	family with sequence similarity 27, member E3	52																	TCTCGCATGGCGGCCTGTCTT	0.567																																																	0																																										SO:0001583	missense	100131997					9q13	2014-05-06			ENSG00000232833	ENSG00000274026			28655	protein-coding gene	gene with protein product						12477932	Standard	NR_103833		Approved	MGC42630	uc004adi.4	Q08E93	OTTHUMG00000188582	ENST00000455764.2:c.154G>A	9.37:g.67786101C>T	ENSP00000463817:p.Ala52Thr			Missense_Mutation	SNP	NULL	p.A52T	ENST00000455764.2	37	c.154		9																																																																																			FAM27E3	-	NULL		0.567	FAM27E3-001	KNOWN	basic|appris_principal	protein_coding	FAM27E3	HGNC	protein_coding	OTTHUMT00000144019.2	C	XM_001720463		67786101	-1	no_errors	ENST00000455764	ensembl	human	known	70_37	missense	SNP	0.004	T
RMDN2	151393	genome.wustl.edu	37	2	38208440	38208440	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:38208440G>A	ENST00000406384.1	+	5	939	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	RMDN2_ENST00000417700.2_Missense_Mutation_p.E104K|RMDN2_ENST00000354545.2_Missense_Mutation_p.E249K|RMDN2_ENST00000407257.1_Missense_Mutation_p.E427K|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000234195.3_Missense_Mutation_p.E427K	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2	249						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AACTTTAAGTGAAAGAGCTAT	0.333																																																	0													94.0	99.0	98.0					2																	38208440		2203	4300	6503	SO:0001583	missense	151393			AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.745G>A	2.37:g.38208440G>A	ENSP00000386004:p.Glu249Lys		A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Missense_Mutation	SNP	NULL	p.E427K	ENST00000406384.1	37	c.1279	CCDS54351.1	2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553022	0.45487	.	.	ENSG00000115841	ENST00000354545;ENST00000406384;ENST00000407257;ENST00000417700;ENST00000234195;ENST00000442857	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.32	5.32	0.75619	.	0.133396	0.49916	D	0.000121	T	0.33323	0.0859	L	0.31476	0.935	0.43657	D	0.996071	B;P;D;P	0.57899	0.071;0.89;0.981;0.89	B;P;P;P	0.52554	0.12;0.472;0.702;0.602	T	0.01149	-1.1436	10	0.33940	T	0.23	-9.8647	14.3654	0.66803	0.0:0.0:1.0:0.0	.	427;104;249;104	Q96LZ7-2;Q96LZ7-4;Q96LZ7;Q96LZ7-3	.;.;RMD2_HUMAN;.	K	249;249;427;104;427;104	ENSP00000346549:E249K;ENSP00000386004:E249K;ENSP00000385049:E427K;ENSP00000392977:E104K;ENSP00000234195:E427K;ENSP00000416367:E104K	ENSP00000234195:E427K	E	+	1	0	FAM82A1	38061944	1.000000	0.71417	0.982000	0.44146	0.528000	0.34623	4.746000	0.62133	2.769000	0.95229	0.491000	0.48974	GAA	FAM82A1	-	NULL		0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM82A1	HGNC	protein_coding	OTTHUMT00000325577.1	G	NM_144713		38208440	+1	no_errors	ENST00000234195	ensembl	human	known	70_37	missense	SNP	1.000	A
FBN2	2201	genome.wustl.edu	37	5	127627276	127627276	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:127627276G>C	ENST00000508053.1	-	55	7211	c.6237C>G	c.(6235-6237)ttC>ttG	p.F2079L	FBN2_ENST00000262464.4_Missense_Mutation_p.F2079L			P35556	FBN2_HUMAN	fibrillin 2	2079	EGF-like 35; 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)		AGAGGCACTGGAAGCCCCCTG	0.443																																																	0													102.0	112.0	109.0					5																	127627276		2203	4300	6503	SO:0001583	missense	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.6237C>G	5.37:g.127627276G>C	ENSP00000424571:p.Phe2079Leu		B4DU01|Q59ES6	Missense_Mutation	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.F2079L	ENST00000508053.1	37	c.6237	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.023556	0.75390	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.95853	-3.83;-3.83	5.35	5.35	0.76521	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000002	D	0.97945	0.9324	M	0.90870	3.155	0.58432	D	0.999995	D	0.63046	0.992	D	0.76071	0.987	D	0.97957	1.0335	10	0.72032	D	0.01	.	12.8788	0.58006	0.074:0.0:0.926:0.0	.	2079	P35556	FBN2_HUMAN	L	2079	ENSP00000262464:F2079L;ENSP00000424571:F2079L	ENSP00000262464:F2079L	F	-	3	2	FBN2	127655175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.673000	0.54591	2.941000	0.99782	0.655000	0.94253	TTC	FBN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.443	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127627276	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	C
FBXO22	26263	genome.wustl.edu	37	15	76209603	76209603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:76209603C>T	ENST00000308275.3	+	5	601	c.496C>T	c.(496-498)Cag>Tag	p.Q166*	FBXO22_ENST00000540507.1_Nonsense_Mutation_p.Q62*|FBXO22_ENST00000453211.2_Nonsense_Mutation_p.Q166*	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	166					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						CAATCGACCTCAGGAAATAGA	0.333																																																	0													76.0	81.0	79.0					15																	76209603		2197	4293	6490	SO:0001587	stop_gained	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.496C>T	15.37:g.76209603C>T	ENSP00000307833:p.Gln166*		Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Nonsense_Mutation	SNP	pfam_FIST_C_domain,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like	p.Q166*	ENST00000308275.3	37	c.496	CCDS10287.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.455002	0.97581	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	5.61	5.61	0.85477	.	0.114571	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-15.9756	15.1415	0.72615	0.0:1.0:0.0:0.0	.	.	.	.	X	166;166;62	.	ENSP00000307833:Q166X	Q	+	1	0	FBXO22	73996658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.222000	0.51223	2.655000	0.90218	0.650000	0.86243	CAG	FBXO22	-	NULL		0.333	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO22	HGNC	protein_coding	OTTHUMT00000286477.2	C	NM_147188		76209603	+1	no_errors	ENST00000308275	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FCHSD2	9873	genome.wustl.edu	37	11	72551993	72551993	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:72551993G>A	ENST00000409418.4	-	19	2451	c.2068C>T	c.(2068-2070)Cat>Tat	p.H690Y	FCHSD2_ENST00000311172.7_Missense_Mutation_p.H634Y|ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409314.1_Missense_Mutation_p.H714Y|FCHSD2_ENST00000458644.2_Missense_Mutation_p.H554Y|FCHSD2_ENST00000409263.1_Missense_Mutation_p.H51Y	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	690										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GACTCAGCATGAAGGCTTTTT	0.453																																																	0													100.0	91.0	94.0					11																	72551993		2200	4293	6493	SO:0001583	missense	9873			AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.2068C>T	11.37:g.72551993G>A	ENSP00000386722:p.His690Tyr		B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Missense_Mutation	SNP	pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.H690Y	ENST00000409418.4	37	c.2068	CCDS8218.2	11	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759560	0.31137	.	.	ENSG00000137478	ENST00000311172;ENST00000409314;ENST00000409418;ENST00000409263;ENST00000458644	T;T;T;T	0.13420	2.59;2.7;2.71;2.59	5.3	3.35	0.38373	.	0.935801	0.09039	N	0.857524	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.20368	0.0;0.044	B;B	0.19946	0.0;0.027	T	0.47302	-0.9128	10	0.07030	T	0.85	-26.3113	3.1858	0.06601	0.083:0.2386:0.4181:0.2603	.	554;690	E7ENZ2;O94868	.;FCSD2_HUMAN	Y	634;714;690;51;554	ENSP00000308978:H634Y;ENSP00000386987:H714Y;ENSP00000386722:H690Y;ENSP00000402972:H554Y	ENSP00000308978:H634Y	H	-	1	0	FCHSD2	72229641	0.999000	0.42202	0.775000	0.31657	0.881000	0.50899	1.090000	0.30902	2.756000	0.94617	0.563000	0.77884	CAT	FCHSD2	-	NULL		0.453	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD2	HGNC	protein_coding	OTTHUMT00000329429.2	G	NM_014824		72551993	-1	no_errors	ENST00000409418	ensembl	human	known	70_37	missense	SNP	0.017	A
FGF8	2253	genome.wustl.edu	37	10	103534606	103534606	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:103534606G>A	ENST00000344255.3	-	4	186	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	FGF8_ENST00000346714.3_Nonsense_Mutation_p.Q34*|FGF8_ENST00000320185.2_Nonsense_Mutation_p.Q74*|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000347978.2_Nonsense_Mutation_p.Q45*			P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	63					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in mesendoderm migration (GO:0090134)|cell proliferation in forebrain (GO:0021846)|corticotropin hormone secreting cell differentiation (GO:0060128)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral axon guidance (GO:0033563)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|forebrain neuron development (GO:0021884)|gastrulation (GO:0007369)|gonad development (GO:0008406)|heart looping (GO:0001947)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lung morphogenesis (GO:0060425)|male genitalia development (GO:0030539)|MAPK cascade (GO:0000165)|mesodermal cell migration (GO:0008078)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|midbrain-hindbrain boundary development (GO:0030917)|motor neuron axon guidance (GO:0008045)|negative regulation of cardiac muscle tissue development (GO:0055026)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate morphogenesis (GO:0001839)|neuroepithelial cell differentiation (GO:0060563)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|pallium development (GO:0021543)|patterning of blood vessels (GO:0001569)|pharyngeal system development (GO:0060037)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitosis (GO:0045840)|positive regulation of organ growth (GO:0046622)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)|signal transduction involved in regulation of gene expression (GO:0023019)|subpallium development (GO:0021544)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		CGGCTGAGCTGATCCGTCACC	0.522																																																	0													81.0	81.0	81.0					10																	103534606		2203	4300	6503	SO:0001587	stop_gained	2253			D38752	CCDS7515.1, CCDS7516.1, CCDS7517.1, CCDS7518.1, CCDS73185.1	10q25-q26	2014-01-30			ENSG00000107831	ENSG00000107831		"""Endogenous ligands"""	3686	protein-coding gene	gene with protein product		600483				8595889	Standard	NM_033164		Approved	AIGF	uc001ktq.2	P55075	OTTHUMG00000018940	ENST00000344255.3:c.187C>T	10.37:g.103534606G>A	ENSP00000340039:p.Gln63*		A1A514|Q14915|Q15766	Nonsense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.Q74*	ENST00000344255.3	37	c.220	CCDS7517.1	10	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348486	0.82132	.	.	ENSG00000107831	ENST00000344255;ENST00000320185;ENST00000346714;ENST00000347978	.	.	.	4.52	4.52	0.55395	.	0.574514	0.18167	N	0.149574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-14.5663	17.494	0.87712	0.0:0.0:1.0:0.0	.	.	.	.	X	63;74;34;45	.	ENSP00000321797:Q74X	Q	-	1	0	FGF8	103524596	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.243000	0.78219	2.371000	0.80710	0.486000	0.48141	CAG	FGF8	-	superfamily_Cytokine_IL1-like		0.522	FGF8-004	KNOWN	basic|CCDS	protein_coding	FGF8	HGNC	protein_coding	OTTHUMT00000049999.1	G	NM_006119, NM_033165		103534606	-1	no_errors	ENST00000320185	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FLII	2314	genome.wustl.edu	37	17	18150641	18150641	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:18150641C>T	ENST00000327031.4	-	21	2743	c.2518G>A	c.(2518-2520)Gat>Aat	p.D840N	FLII_ENST00000379450.4_Missense_Mutation_p.D754N|FLII_ENST00000545457.2_Missense_Mutation_p.D785N|FLII_ENST00000579294.1_Missense_Mutation_p.D829N|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	840					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GTCAACACATCGTCCCAATTC	0.577																																																	0													112.0	98.0	103.0					17																	18150641		2203	4300	6503	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2518G>A	17.37:g.18150641C>T	ENSP00000324573:p.Asp840Asn		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.D840N	ENST00000327031.4	37	c.2518	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116709	0.77323	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.14022	2.54;2.54	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.69358	2.11	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.994;0.999;1.0	D;D;P;D;D	0.83275	0.996;0.996;0.795;0.975;0.99	T	0.06862	-1.0803	10	0.54805	T	0.06	-28.1043	19.1819	0.93627	0.0:1.0:0.0:0.0	.	754;754;719;840;809	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	N	840;719;754	ENSP00000324573:D840N;ENSP00000368763:D754N	ENSP00000324573:D840N	D	-	1	0	FLII	18091366	1.000000	0.71417	0.332000	0.25469	0.150000	0.21749	7.136000	0.77285	2.529000	0.85273	0.563000	0.77884	GAT	FLII	-	NULL		0.577	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	C	NM_002018		18150641	-1	no_errors	ENST00000327031	ensembl	human	known	70_37	missense	SNP	0.998	T
FNBP1	23048	genome.wustl.edu	37	9	132665171	132665171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:132665171G>A	ENST00000446176.2	-	13	1591	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	FNBP1_ENST00000443566.2_Nonsense_Mutation_p.R97*|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000420781.1_Nonsense_Mutation_p.R460*|FNBP1_ENST00000355681.3_Nonsense_Mutation_p.R440*	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	469	Interaction with RND2. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTCTCTACTCGCAGTTTCTCT	0.433			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													110.0	101.0	104.0					9																	132665171		1840	4098	5938	SO:0001587	stop_gained	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1405C>T	9.37:g.132665171G>A	ENSP00000413625:p.Arg469*		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Nonsense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.R469*	ENST00000446176.2	37	c.1405	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.718584	0.96839	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.	.	.	5.76	-1.35	0.09114	.	0.181621	0.49916	D	0.000140	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.023	17.2764	0.87116	0.0:0.0:0.343:0.657	.	.	.	.	X	469;469;460;469;97;440	.	ENSP00000347907:R440X	R	-	1	2	FNBP1	131704992	0.969000	0.33509	0.145000	0.22337	0.508000	0.34012	1.619000	0.36965	-0.211000	0.10124	-0.274000	0.10170	CGA	FNBP1	-	superfamily_HR1_rho-bd		0.433	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	G			132665171	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	nonsense	SNP	0.866	A
FRA10AC1	118924	genome.wustl.edu	37	10	95451844	95451844	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:95451844C>A	ENST00000359204.4	-	7	584	c.387G>T	c.(385-387)aaG>aaT	p.K129N	FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K129N|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K129N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K129N	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	129	Lys-rich.					nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TAGCAAGTCTCTTCTCCCTAG	0.284																																																	0													36.0	40.0	38.0					10																	95451844		2189	4273	6462	SO:0001583	missense	118924			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.387G>T	10.37:g.95451844C>A	ENSP00000360488:p.Lys129Asn		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.K129N	ENST00000359204.4	37	c.387	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372821	0.61624	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25085	1.82;1.85;1.82;1.82	5.49	4.59	0.56863	.	0.043572	0.85682	N	0.000000	T	0.42268	0.1195	L	0.52905	1.665	0.49915	D	0.999832	D;D	0.71674	0.994;0.998	P;D	0.68765	0.899;0.96	T	0.18085	-1.0348	10	0.41790	T	0.15	-12.2403	11.2117	0.48802	0.0:0.8525:0.0:0.1475	.	129;129	Q70Z53-2;Q70Z53	.;F10C1_HUMAN	N	129	ENSP00000360488:K129N;ENSP00000438405:K129N;ENSP00000360484:K129N;ENSP00000377660:K129N	ENSP00000360488:K129N	K	-	3	2	FRA10AC1	95441834	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	1.071000	0.30666	1.304000	0.44892	0.585000	0.79938	AAG	FRA10AC1	-	pfam_Folate-sensitive_fs_Fra10Ac1		0.284	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	C	NM_145246		95451844	-1	no_errors	ENST00000359204	ensembl	human	known	70_37	missense	SNP	1.000	A
FYN	2534	genome.wustl.edu	37	6	112025271	112025271	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:112025271C>T	ENST00000354650.3	-	7	1084	c.478G>A	c.(478-480)Gag>Aag	p.E160K	FYN_ENST00000356013.2_Missense_Mutation_p.E160K|FYN_ENST00000538466.1_Missense_Mutation_p.E160K|FYN_ENST00000368682.3_Missense_Mutation_p.E160K|FYN_ENST00000229471.4_Missense_Mutation_p.E160K|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368667.2_Missense_Mutation_p.E160K|FYN_ENST00000368678.4_Missense_Mutation_p.E160K|FYN_ENST00000229470.5_Missense_Mutation_p.E111K	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	160	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGCTGTCGCTCAGCATCTTTT	0.393																																																	0													125.0	117.0	120.0					6																	112025271		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.478G>A	6.37:g.112025271C>T	ENSP00000346671:p.Glu160Lys		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E160K	ENST00000354650.3	37	c.478	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.674204	0.96764	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792;ENST00000462856;ENST00000520518;ENST00000517419	D;T;D;T;D;T;D;D;D;D;T	0.91740	-2.9;1.27;-2.9;1.27;-2.9;1.27;-2.9;-2.9;-2.9;-2.9;1.27	6.07	6.07	0.98685	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.97110	0.986;0.969;1.0	D	0.96978	0.9713	10	0.87932	D	0	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	160;160;160	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	K	160;160;160;160;160;111;160;160;111;160;160;160	ENSP00000357671:E160K;ENSP00000346671:E160K;ENSP00000229471:E160K;ENSP00000357656:E160K;ENSP00000357667:E160K;ENSP00000229470:E111K;ENSP00000348295:E160K;ENSP00000440646:E160K;ENSP00000427993:E160K;ENSP00000429294:E160K;ENSP00000429866:E160K	ENSP00000229470:E111K	E	-	1	0	FYN	112131964	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAG	FYN	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.393	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	C			112025271	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	missense	SNP	1.000	T
FUCA2	2519	genome.wustl.edu	37	6	143825369	143825369	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:143825369C>G	ENST00000002165.6	-	3	488	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	RP1-20N2.6_ENST00000610068.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	145					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CACGAATATTCTGACCCCCAC	0.423																																																	0													89.0	95.0	93.0					6																	143825369		2203	4300	6503	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.433G>C	6.37:g.143825369C>G	ENSP00000002165:p.Glu145Gln		E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.E145Q	ENST00000002165.6	37	c.433	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425942	0.25726	.	.	ENSG00000001036	ENST00000002165	T	0.57595	0.39	5.46	-1.39	0.08997	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.289012	0.41605	D	0.000855	T	0.11922	0.0290	N	0.10972	0.075	0.32873	D	0.509483	B	0.12630	0.006	B	0.15870	0.014	T	0.06250	-1.0837	10	0.48119	T	0.1	-3.3088	6.815	0.23824	0.0:0.1785:0.1529:0.6686	.	145	Q9BTY2	FUCO2_HUMAN	Q	145	ENSP00000002165:E145Q	ENSP00000002165:E145Q	E	-	1	0	FUCA2	143867062	0.208000	0.23494	0.004000	0.12327	0.830000	0.47004	0.718000	0.25866	-0.234000	0.09782	-0.142000	0.14014	GAA	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub		0.423	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	C	NM_032020		143825369	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	missense	SNP	0.197	G
GAD1	2571	genome.wustl.edu	37	2	171675139	171675139	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:171675139C>G	ENST00000358196.3	+	2	588	c.38C>G	c.(37-39)tCg>tGg	p.S13W	AC007405.8_ENST00000451730.1_RNA|GAD1_ENST00000429023.1_3'UTR|AC007405.8_ENST00000455988.1_RNA|GAD1_ENST00000375272.1_Missense_Mutation_p.S13W|AC007405.8_ENST00000418106.1_RNA|GAD1_ENST00000344257.5_Missense_Mutation_p.S13W	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	13					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GCAACCTCCTCGAACGCGGGA	0.617																																																	0													80.0	81.0	80.0					2																	171675139		2203	4300	6503	SO:0001583	missense	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.38C>G	2.37:g.171675139C>G	ENSP00000350928:p.Ser13Trp		Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S13W	ENST00000358196.3	37	c.38	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050836	0.55218	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;D;T;T;T;T;T	0.88741	-1.36;-2.42;2.24;0.33;0.33;-1.36;-1.26	5.77	5.77	0.91146	.	0.247105	0.33005	N	0.005398	D	0.89921	0.6855	L	0.50333	1.59	0.52501	D	0.999956	P;D	0.60160	0.832;0.987	B;P	0.51974	0.257;0.686	D	0.90679	0.4604	10	0.87932	D	0	-1.4617	14.7945	0.69868	0.1441:0.8559:0.0:0.0	.	13;13	Q99259;Q99259-3	DCE1_HUMAN;.	W	13	ENSP00000402366:S13W;ENSP00000394948:S13W;ENSP00000350928:S13W;ENSP00000364421:S13W;ENSP00000341167:S13W;ENSP00000405917:S13W;ENSP00000394255:S13W	ENSP00000341167:S13W	S	+	2	0	GAD1	171383385	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.545000	0.60698	2.724000	0.93272	0.561000	0.74099	TCG	GAD1	-	NULL		0.617	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	C			171675139	+1	no_errors	ENST00000358196	ensembl	human	known	70_37	missense	SNP	1.000	G
GAS2L2	246176	genome.wustl.edu	37	17	34072333	34072333	+	Missense_Mutation	SNP	G	G	C	rs140261341		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:34072333G>C	ENST00000254466.6	-	6	2210	c.2183C>G	c.(2182-2184)tCg>tGg	p.S728W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.S712W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	728					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTAGAAGCCGAGCAGTCCTG	0.617																																																	0													96.0	101.0	99.0					17																	34072333		2203	4300	6503	SO:0001583	missense	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2183C>G	17.37:g.34072333G>C	ENSP00000254466:p.Ser728Trp		Q8NHY4	Missense_Mutation	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S728W	ENST00000254466.6	37	c.2183	CCDS11298.1	17	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409663	0.25465	.	.	ENSG00000132139	ENST00000254466	T	0.21543	2.0	4.11	0.764	0.18465	.	0.743050	0.11584	N	0.549465	T	0.19127	0.0459	L	0.27053	0.805	0.39494	D	0.968095	D	0.61697	0.99	P	0.54431	0.752	T	0.36962	-0.9726	10	0.87932	D	0	-5.6549	1.2792	0.02037	0.204:0.1681:0.4554:0.1725	.	728	Q8NHY3	GA2L2_HUMAN	W	728	ENSP00000254466:S728W	ENSP00000254466:S728W	S	-	2	0	GAS2L2	31096446	0.086000	0.21541	0.896000	0.35187	0.278000	0.26855	0.935000	0.28924	0.523000	0.28482	-0.657000	0.03884	TCG	GAS2L2	-	NULL		0.617	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	G	NM_139285		34072333	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	missense	SNP	0.641	C
GBA2	57704	genome.wustl.edu	37	9	35748398	35748398	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:35748398G>C	ENST00000378103.3	-	1	827	c.304C>G	c.(304-306)Caa>Gaa	p.Q102E	GBA2_ENST00000378094.4_Missense_Mutation_p.Q102E|GBA2_ENST00000545786.1_Missense_Mutation_p.Q102E|RGP1_ENST00000456972.2_5'Flank|RGP1_ENST00000378078.4_5'Flank	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	102					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGTTAGCTTGAAAGGGTTTC	0.483																																																	0													98.0	84.0	89.0					9																	35748398		2203	4300	6503	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.304C>G	9.37:g.35748398G>C	ENSP00000367343:p.Gln102Glu		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.Q102E	ENST00000378103.3	37	c.304	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965593	0.53507	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.78	1.35	0.21983	.	0.672023	0.15431	N	0.262687	T	0.44582	0.1300	L	0.34521	1.04	0.41383	D	0.987563	B;B;B	0.15930	0.015;0.015;0.009	B;B;B	0.18561	0.022;0.014;0.01	T	0.27806	-1.0063	9	0.33141	T	0.24	-0.011	11.6428	0.51244	0.0:0.1071:0.6435:0.2494	.	102;102;102	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	E	102	.	ENSP00000367334:Q102E	Q	-	1	0	GBA2	35738398	1.000000	0.71417	0.989000	0.46669	0.880000	0.50808	0.672000	0.25187	0.346000	0.23899	0.591000	0.81541	CAA	GBA2	-	pirsf_Beta_glucosidase_GBA2-type		0.483	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	G	NM_020944		35748398	-1	no_errors	ENST00000545786	ensembl	human	known	70_37	missense	SNP	0.999	C
GDA	9615	genome.wustl.edu	37	9	74817635	74817635	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:74817635G>A	ENST00000358399.3	+	3	454	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	GDA_ENST00000238018.4_Missense_Mutation_p.E121K|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.E47K|GDA_ENST00000376986.1_Missense_Mutation_p.E79K|GDA_ENST00000376989.3_Missense_Mutation_p.E96K	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	121					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CGACTTTGCAGAAGAAGTATA	0.408																																																	0													217.0	198.0	205.0					9																	74817635		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.361G>A	9.37:g.74817635G>A	ENSP00000351170:p.Glu121Lys		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.E121K	ENST00000358399.3	37	c.361	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054083	0.19907	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	D;D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57;-2.57	5.62	5.62	0.85841	Amidohydrolase 1 (1);	0.266015	0.43747	D	0.000523	T	0.80428	0.4621	N	0.25094	0.71	0.44976	D	0.997999	B;B;B	0.23442	0.022;0.069;0.085	B;B;B	0.19391	0.017;0.015;0.025	T	0.74630	-0.3601	10	0.15952	T	0.53	-19.3734	12.928	0.58270	0.0738:0.0:0.9262:0.0	.	79;121;121	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	K	47;121;96;79;121	ENSP00000437972:E47K;ENSP00000238018:E121K;ENSP00000366188:E96K;ENSP00000366185:E79K;ENSP00000351170:E121K	ENSP00000238018:E121K	E	+	1	0	GDA	74007455	0.998000	0.40836	0.998000	0.56505	0.027000	0.11550	2.997000	0.49457	2.659000	0.90383	0.655000	0.94253	GAA	GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase		0.408	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	G			74817635	+1	no_errors	ENST00000238018	ensembl	human	known	70_37	missense	SNP	0.997	A
GNA15	2769	genome.wustl.edu	37	19	3162874	3162874	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:3162874G>A	ENST00000262958.3	+	7	1240	c.982G>A	c.(982-984)Gag>Aag	p.E328K		NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	328					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.E328K(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGACGGCCCCGAGGGCAGCAA	0.602											OREG0025150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											105.0	83.0	90.0					19																	3162874		2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.982G>A	19.37:g.3162874G>A	ENSP00000262958:p.Glu328Lys	609	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.E328K	ENST00000262958.3	37	c.982	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	g	10.45	1.353545	0.24512	.	.	ENSG00000060558	ENST00000262958	D	0.82893	-1.66	3.99	2.93	0.34026	.	0.650143	0.12782	N	0.439624	T	0.59742	0.2216	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54873	-0.8228	10	0.72032	D	0.01	.	7.6143	0.28148	0.1427:0.0:0.8573:0.0	.	328	P30679	GNA15_HUMAN	K	328	ENSP00000262958:E328K	ENSP00000262958:E328K	E	+	1	0	GNA15	3113874	0.122000	0.22280	0.001000	0.08648	0.005000	0.04900	2.716000	0.47219	0.785000	0.33685	0.561000	0.74099	GAG	GNA15	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su		0.602	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	G	NM_002068		3162874	+1	no_errors	ENST00000262958	ensembl	human	known	70_37	missense	SNP	0.015	A
GIPR	2696	genome.wustl.edu	37	19	46174547	46174547	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:46174547C>T	ENST00000590918.1	+	4	276	c.177C>T	c.(175-177)ctC>ctT	p.L59L	GIPR_ENST00000304207.8_Intron|GIPR_ENST00000263281.3_Silent_p.L59L	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	59					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCCCAGGCCTCGCCTGTAACG	0.667																																																	0													103.0	83.0	90.0					19																	46174547		2203	4300	6503	SO:0001819	synonymous_variant	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.177C>T	19.37:g.46174547C>T			B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.L59	ENST00000590918.1	37	c.177	CCDS12671.1	19																																																																																			GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom		0.667	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	C			46174547	+1	no_errors	ENST00000590918	ensembl	human	known	70_37	silent	SNP	0.997	T
GPR101	83550	genome.wustl.edu	37	X	136113039	136113039	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:136113039C>T	ENST00000298110.1	-	1	794	c.795G>A	c.(793-795)caG>caA	p.Q265Q		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACCTTCATGCTGGCGGCGAA	0.557																																																	0													167.0	128.0	141.0					X																	136113039		2203	4300	6503	SO:0001819	synonymous_variant	83550			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.795G>A	X.37:g.136113039C>T			Q5JSM8|Q8NG93	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Q265	ENST00000298110.1	37	c.795	CCDS14662.1	X																																																																																			GPR101	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	HGNC	protein_coding	OTTHUMT00000058519.1	C			136113039	-1	no_errors	ENST00000298110	ensembl	human	known	70_37	silent	SNP	0.404	T
GPR115	221393	genome.wustl.edu	37	6	47680153	47680153	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:47680153G>T	ENST00000283303.2	+	5	619	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Missense_Mutation_p.D121Y|GPR115_ENST00000371220.1_Missense_Mutation_p.D178Y	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	121					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCATATTCTAGACTTTCGAGC	0.418																																					GBM(22;431 510 9010 26644 32828)												0													152.0	142.0	145.0					6																	47680153		2203	4300	6503	SO:0001583	missense	221393			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.361G>T	6.37:g.47680153G>T	ENSP00000283303:p.Asp121Tyr		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.D178Y	ENST00000283303.2	37	c.532	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323944	0.41096	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.36340	1.47;1.26;1.26	4.96	4.05	0.47172	.	0.642064	0.15657	N	0.251075	T	0.16557	0.0398	L	0.57536	1.79	0.09310	N	0.999991	B	0.33694	0.421	B	0.31337	0.128	T	0.12066	-1.0562	10	0.62326	D	0.03	-9.7309	7.6095	0.28122	0.1254:0.0:0.8746:0.0	.	121	Q8IZF3	GP115_HUMAN	Y	178;121;121	ENSP00000360264:D178Y;ENSP00000328319:D121Y;ENSP00000283303:D121Y	ENSP00000283303:D121Y	D	+	1	0	GPR115	47788112	0.032000	0.19561	0.054000	0.19295	0.105000	0.19272	2.095000	0.41729	1.356000	0.45884	0.655000	0.94253	GAC	GPR115	-	NULL		0.418	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2	G	NM_153838		47680153	+1	no_errors	ENST00000371220	ensembl	human	known	70_37	missense	SNP	0.322	T
GPR144	347088	genome.wustl.edu	37	9	127217404	127217404	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:127217404G>A	ENST00000334810.1	+	7	1447	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	483					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						CTCCCTCCGTGAAGTGAGGCT	0.632																																																	0													14.0	14.0	14.0					9																	127217404		692	1591	2283	SO:0001583	missense	347088			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1447G>A	9.37:g.127217404G>A	ENSP00000335156:p.Glu483Lys		Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like	p.E483K	ENST00000334810.1	37	c.1447	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522525	0.44866	.	.	ENSG00000180264	ENST00000334810	T	0.52295	0.67	4.32	-1.45	0.08828	.	.	.	.	.	T	0.35364	0.0929	L	0.56769	1.78	0.19300	N	0.999975	P	0.35272	0.493	B	0.26202	0.067	T	0.15838	-1.0423	9	0.52906	T	0.07	.	5.9564	0.19275	0.4909:0.1462:0.363:0.0	.	483	Q7Z7M1	GP144_HUMAN	K	483	ENSP00000335156:E483K	ENSP00000335156:E483K	E	+	1	0	GPR144	126257225	0.070000	0.21116	0.021000	0.16686	0.038000	0.13279	0.001000	0.13038	-0.401000	0.07644	0.655000	0.94253	GAA	GPR144	-	NULL		0.632	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	G	NM_182611		127217404	+1	no_errors	ENST00000334810	ensembl	human	known	70_37	missense	SNP	0.017	A
GPR56	9289	genome.wustl.edu	37	16	57687930	57687930	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:57687930C>T	ENST00000388812.4	+	5	1093	c.653C>T	c.(652-654)tCt>tTt	p.S218F	GPR56_ENST00000379696.3_Missense_Mutation_p.S218F|GPR56_ENST00000388813.5_Missense_Mutation_p.S218F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000456916.1_Missense_Mutation_p.S218F|GPR56_ENST00000544297.1_Missense_Mutation_p.S43F|GPR56_ENST00000379694.4_Missense_Mutation_p.S48F|GPR56_ENST00000568908.1_Missense_Mutation_p.S218F|GPR56_ENST00000538815.1_Missense_Mutation_p.S218F|GPR56_ENST00000562631.1_Missense_Mutation_p.S218F|GPR56_ENST00000567835.1_Missense_Mutation_p.S218F|GPR56_ENST00000562558.1_Missense_Mutation_p.S218F|GPR56_ENST00000568909.1_Missense_Mutation_p.S218F|GPR56_ENST00000540164.2_Missense_Mutation_p.S218F			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	218					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AAACTGACCTCTGTGAGATTC	0.642																																																	0													84.0	87.0	86.0					16																	57687930		2198	4300	6498	SO:0001583	missense	9289			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.653C>T	16.37:g.57687930C>T	ENSP00000373464:p.Ser218Phe		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like	p.S218F	ENST00000388812.4	37	c.653	CCDS32460.1	16	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173573	0.21704	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000544297;ENST00000379694;ENST00000379696	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;1.74;1.18;0.88	5.04	2.9	0.33743	.	0.828475	0.10548	N	0.661786	T	0.51787	0.1695	L	0.60455	1.87	0.09310	N	1	D;D;D;D;P	0.59767	0.986;0.976;0.964;0.976;0.593	P;P;P;P;B	0.56700	0.742;0.556;0.804;0.556;0.174	T	0.34976	-0.9807	10	0.66056	D	0.02	.	8.0111	0.30353	0.0:0.7257:0.1755:0.0988	.	43;223;218;218;48	F5H144;B4DR54;Q9Y653-2;Q9Y653;E7ENB2	.;.;.;GPR56_HUMAN;.	F	218;218;218;218;218;43;48;218	ENSP00000373465:S218F;ENSP00000373464:S218F;ENSP00000444415:S218F;ENSP00000398034:S218F;ENSP00000444911:S218F;ENSP00000438006:S43F;ENSP00000369016:S48F;ENSP00000369018:S218F	ENSP00000369016:S48F	S	+	2	0	GPR56	56245431	0.235000	0.23794	0.006000	0.13384	0.001000	0.01503	1.408000	0.34668	1.106000	0.41623	-0.291000	0.09656	TCT	GPR56	-	NULL		0.642	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	C			57687930	+1	no_errors	ENST00000379696	ensembl	human	known	70_37	missense	SNP	0.000	T
GPR64	10149	genome.wustl.edu	37	X	19024193	19024193	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:19024193C>T	ENST00000379869.3	-	22	1929	c.1766G>A	c.(1765-1767)tGc>tAc	p.C589Y	GPR64_ENST00000340581.3_Missense_Mutation_p.C470Y|GPR64_ENST00000360279.4_Missense_Mutation_p.C567Y|GPR64_ENST00000379876.1_Missense_Mutation_p.C565Y|GPR64_ENST00000379873.2_Missense_Mutation_p.C589Y|GPR64_ENST00000357544.3_Missense_Mutation_p.C559Y|GPR64_ENST00000356606.4_Missense_Mutation_p.C575Y|GPR64_ENST00000379878.3_Missense_Mutation_p.C573Y|GPR64_ENST00000357991.3_Missense_Mutation_p.C586Y|GPR64_ENST00000354791.3_Missense_Mutation_p.C573Y	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	589	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTTGACAGAGCAGCCATTGTC	0.527																																																	0													126.0	107.0	113.0					X																	19024193		2203	4300	6503	SO:0001583	missense	10149			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1766G>A	X.37:g.19024193C>T	ENSP00000369198:p.Cys589Tyr		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.C589Y	ENST00000379869.3	37	c.1766	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052336	0.55218	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	D;D;D;D;D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.73	5.73	0.89815	GPS domain (3);	0.000000	0.64402	D	0.000006	D	0.96800	0.8955	H	0.99104	4.43	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	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98623	1.0668	10	0.87932	D	0	.	18.9182	0.92515	0.0:1.0:0.0:0.0	.	470;551;559;565;573;589;567;575;586;589;573	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	Y	589;573;573;565;559;589;567;586;575;470	ENSP00000369202:C589Y;ENSP00000369207:C573Y;ENSP00000346845:C573Y;ENSP00000369205:C565Y;ENSP00000350152:C559Y;ENSP00000369198:C589Y;ENSP00000353421:C567Y;ENSP00000350680:C586Y;ENSP00000349015:C575Y;ENSP00000344972:C470Y	ENSP00000344972:C470Y	C	-	2	0	GPR64	18934114	1.000000	0.71417	0.995000	0.50966	0.049000	0.14656	7.442000	0.80503	2.415000	0.81967	0.600000	0.82982	TGC	GPR64	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom		0.527	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	C			19024193	-1	no_errors	ENST00000379869	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	89940535	89940535	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:89940535T>C	ENST00000405460.2	+	15	2843	c.2747T>C	c.(2746-2748)gTa>gCa	p.V916A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	916	Calx-beta 7. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTTATGATGTAGTAAGAAAT	0.328																																																	0													249.0	234.0	239.0					5																	89940535		1867	4097	5964	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2747T>C	5.37:g.89940535T>C	ENSP00000384582:p.Val916Ala		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V916A	ENST00000405460.2	37	c.2747	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	T	15.88	2.964763	0.53507	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.47528	0.84	5.65	4.49	0.54785	Na-Ca exchanger/integrin-beta4 (1);	0.578521	0.19297	N	0.117721	T	0.48537	0.1505	M	0.81802	2.56	0.80722	D	1	P	0.45348	0.856	B	0.37144	0.242	T	0.56092	-0.8036	10	0.87932	D	0	.	11.646	0.51261	0.0:0.0697:0.0:0.9303	.	916	Q8WXG9	GPR98_HUMAN	A	916	ENSP00000384582:V916A	ENSP00000296619:V916A	V	+	2	0	GPR98	89976291	0.978000	0.34361	0.002000	0.10522	0.750000	0.42670	5.935000	0.70145	0.980000	0.38523	0.373000	0.22412	GTA	GPR98	-	smart_Calx_beta		0.328	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		89940535	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.440	C
GPRASP1	9737	genome.wustl.edu	37	X	101911353	101911353	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:101911353G>C	ENST00000361600.5	+	5	3313	c.2512G>C	c.(2512-2514)Gag>Cag	p.E838Q	GPRASP1_ENST00000415986.1_Missense_Mutation_p.E838Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E838Q|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E838Q|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	838	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAAAGCTGAAGAGGAAGAAGT	0.527																																																	0													92.0	96.0	95.0					X																	101911353		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2512G>C	X.37:g.101911353G>C	ENSP00000355146:p.Glu838Gln		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E838Q	ENST00000361600.5	37	c.2512	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990216	0.54041	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	2.46	2.46	0.29980	.	.	.	.	.	T	0.22936	0.0554	L	0.54323	1.7	0.21527	N	0.999653	D	0.67145	0.996	D	0.63703	0.917	T	0.03608	-1.1020	9	0.42905	T	0.14	.	10.2531	0.43381	0.0:0.0:1.0:0.0	.	838	Q5JY77	GASP1_HUMAN	Q	838	ENSP00000393691:E838Q;ENSP00000409420:E838Q;ENSP00000355146:E838Q;ENSP00000445683:E838Q	ENSP00000355146:E838Q	E	+	1	0	GPRASP1	101798009	0.145000	0.22656	0.273000	0.24645	0.742000	0.42306	4.066000	0.57520	1.523000	0.49018	0.292000	0.19580	GAG	GPRASP1	-	NULL		0.527	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	G	NM_014710		101911353	+1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.910	C
GRIK4	2900	genome.wustl.edu	37	11	120831691	120831691	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:120831691G>C	ENST00000527524.2	+	17	2235	c.1948G>C	c.(1948-1950)Gat>Cat	p.D650H	GRIK4_ENST00000438375.2_Missense_Mutation_p.D650H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	650					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCAGCGCATGGATGTGCCCAT	0.532																																																	0													142.0	112.0	122.0					11																	120831691		2203	4299	6502	SO:0001583	missense	2900			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1948G>C	11.37:g.120831691G>C	ENSP00000435648:p.Asp650His		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D650H	ENST00000527524.2	37	c.1948	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.145381	0.94603	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.53640	0.61;0.61	5.51	5.51	0.81932	Ionotropic glutamate receptor (2);	0.200064	0.51477	D	0.000086	T	0.62925	0.2468	L	0.42632	1.34	0.80722	D	1	D;D	0.57899	0.966;0.981	D;D	0.68483	0.958;0.958	T	0.63510	-0.6621	10	0.62326	D	0.03	.	19.0461	0.93020	0.0:0.0:1.0:0.0	.	650;650	A6H8K8;Q16099	.;GRIK4_HUMAN	H	650	ENSP00000435648:D650H;ENSP00000404063:D650H	ENSP00000404063:D650H	D	+	1	0	GRIK4	120336901	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.869000	0.99810	2.593000	0.87608	0.655000	0.94253	GAT	GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.532	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120831691	+1	no_errors	ENST00000527524	ensembl	human	known	70_37	missense	SNP	1.000	C
GTPBP4	23560	genome.wustl.edu	37	10	1042198	1042198	+	Intron	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:1042198C>T	ENST00000360803.4	+	4	542				GTPBP4_ENST00000538293.1_Intron|GTPBP4_ENST00000545048.1_Intron|GTPBP4_ENST00000491635.1_3'UTR	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4						GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGTCACGCATCCGCGGGAACC	0.512																																																	0													98.0	68.0	79.0					10																	1042198		2203	4300	6503	SO:0001627	intron_variant	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.460+16C>T	10.37:g.1042198C>T			B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	RNA	SNP	-	NULL	ENST00000360803.4	37	NULL	CCDS31132.1	10																																																																																			GTPBP4	-	-		0.512	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	C	NM_012341		1042198	+1	no_errors	ENST00000491635	ensembl	human	known	70_37	rna	SNP	0.000	T
GRK5	2869	genome.wustl.edu	37	10	121196337	121196337	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:121196337G>C	ENST00000392870.2	+	9	1242	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	GRK5_ENST00000369108.3_Missense_Mutation_p.E200Q	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CCTCCACCGTGAGAACACCGT	0.602																																																	0													71.0	60.0	64.0					10																	121196337		2203	4300	6503	SO:0001583	missense	2869			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.913G>C	10.37:g.121196337G>C	ENSP00000376609:p.Glu305Gln		D3DRD0|Q5T059	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E305Q	ENST00000392870.2	37	c.913	CCDS7612.1	10	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870235	0.72065	.	.	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.65178	-0.14;-0.14	5.43	5.43	0.79202	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000013	T	0.56156	0.1966	N	0.02111	-0.68	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.79784	0.99;0.993	T	0.62661	-0.6807	10	0.15499	T	0.54	-3.8947	19.2399	0.93877	0.0:0.0:1.0:0.0	.	305;305	B2R7K0;P34947	.;GRK5_HUMAN	Q	305;200	ENSP00000376609:E305Q;ENSP00000358104:E200Q	ENSP00000358104:E200Q	E	+	1	0	GRK5	121186327	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	9.697000	0.98697	2.539000	0.85634	0.563000	0.77884	GAG	GRK5	-	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		0.602	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	HGNC	protein_coding	OTTHUMT00000050652.2	G	NM_005308		121196337	+1	no_errors	ENST00000392870	ensembl	human	known	70_37	missense	SNP	1.000	C
GUCY2C	2984	genome.wustl.edu	37	12	14840906	14840906	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:14840906G>C	ENST00000261170.3	-	2	445	c.309C>G	c.(307-309)ctC>ctG	p.L103L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	103					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	TGAGTAGGTCGAGGCCTTCAC	0.493																																																	0													96.0	91.0	92.0					12																	14840906		2203	4300	6503	SO:0001819	synonymous_variant	2984				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.309C>G	12.37:g.14840906G>C			B2RMY6	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.L103	ENST00000261170.3	37	c.309	CCDS8664.1	12																																																																																			GUCY2C	-	pfam_ANF_lig-bd_rcpt		0.493	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	G			14840906	-1	no_errors	ENST00000261170	ensembl	human	known	70_37	silent	SNP	0.006	C
GUSB	2990	genome.wustl.edu	37	7	65439567	65439567	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:65439567T>C	ENST00000304895.4	-	7	1320	c.1190A>G	c.(1189-1191)gAc>gGc	p.D397G	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.D251G|GUSB_ENST00000345660.6_Missense_Mutation_p.D346G	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	397					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCCATAGCGGTCACACATCTG	0.632																																																	0													106.0	95.0	99.0					7																	65439567		2203	4300	6503	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1190A>G	7.37:g.65439567T>C	ENSP00000302728:p.Asp397Gly		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.D397G	ENST00000304895.4	37	c.1190	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951332	0.73787	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.97906	-4.6;-4.6;-4.6	4.52	4.52	0.55395	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.095002	0.64402	D	0.000001	D	0.99221	0.9729	H	0.98612	4.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98633	1.0672	10	0.87932	D	0	.	13.4958	0.61426	0.0:0.0:0.0:1.0	.	251;397	E9PCV0;P08236	.;BGLR_HUMAN	G	397;251;346	ENSP00000302728:D397G;ENSP00000391390:D251G;ENSP00000340734:D346G	ENSP00000302728:D397G	D	-	2	0	GUSB	65077002	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	7.501000	0.81600	2.026000	0.59711	0.459000	0.35465	GAC	GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF		0.632	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	T	NM_000181		65439567	-1	no_errors	ENST00000304895	ensembl	human	known	70_37	missense	SNP	1.000	C
HAP1	9001	genome.wustl.edu	37	17	39884506	39884506	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39884506C>T	ENST00000310778.5	-	7	1156	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	HAP1_ENST00000341193.5_Missense_Mutation_p.E391K|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000347901.4_Missense_Mutation_p.E383K|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Missense_Mutation_p.E383K			P54257	HAP1_HUMAN	huntingtin-associated protein 1	383	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGCGACCTCCTGCTGCTGC	0.652																																																	0													47.0	42.0	43.0					17																	39884506		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1147G>A	17.37:g.39884506C>T	ENSP00000309392:p.Glu383Lys		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.E383K	ENST00000310778.5	37	c.1147		17	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962054	0.74016	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.14	4.14	0.48551	.	0.000000	0.42548	D	0.000696	T	0.50650	0.1628	M	0.81497	2.545	0.50171	D	0.999856	D;D;D;D	0.71674	0.996;0.998;0.975;0.98	D;D;P;D	0.78314	0.987;0.991;0.882;0.928	T	0.56183	-0.8021	10	0.72032	D	0.01	-26.3165	11.9683	0.53049	0.0:1.0:0.0:0.0	.	383;391;383;383	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	383;383;383;391	ENSP00000377513:E383K;ENSP00000309392:E383K;ENSP00000334002:E383K;ENSP00000343170:E391K	ENSP00000309392:E383K	E	-	1	0	HAP1	37138032	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	4.682000	0.61671	2.183000	0.69458	0.549000	0.68633	GAG	HAP1	-	pfam_HAP1_N		0.652	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39884506	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	1.000	T
HAUS6	54801	genome.wustl.edu	37	9	19082873	19082873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:19082873G>A	ENST00000380502.3	-	8	1335	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	HAUS6_ENST00000380496.1_Nonsense_Mutation_p.Q154*	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	290					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGCTTACCTGAAACATTTGT	0.308																																																	0													43.0	43.0	43.0					9																	19082873		2203	4300	6503	SO:0001587	stop_gained	54801			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.868C>T	9.37:g.19082873G>A	ENSP00000369871:p.Gln290*		B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Nonsense_Mutation	SNP	NULL	p.Q290*	ENST00000380502.3	37	c.868	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464571	0.84425	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	.	.	.	5.6	3.61	0.41365	.	0.457213	0.25514	N	0.030157	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-0.9664	11.1083	0.48216	0.0:0.0:0.5397:0.4603	.	.	.	.	X	290;154	.	ENSP00000369865:Q154X	Q	-	1	0	HAUS6	19072873	0.950000	0.32346	0.996000	0.52242	0.739000	0.42172	0.814000	0.27239	1.315000	0.45114	0.655000	0.94253	CAG	HAUS6	-	NULL		0.308	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	G	NM_017645		19082873	-1	no_errors	ENST00000380502	ensembl	human	known	70_37	nonsense	SNP	0.988	A
HCN2	610	genome.wustl.edu	37	19	608051	608051	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:608051G>A	ENST00000251287.2	+	4	1359	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	436					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGCGCCCGAGAGCATGAC	0.607																																					Melanoma(145;1175 2427 8056 36306)												0													79.0	63.0	68.0					19																	608051		2203	4300	6503	SO:0001583	missense	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1306G>A	19.37:g.608051G>A	ENSP00000251287:p.Glu436Lys		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.E436K	ENST00000251287.2	37	c.1306	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504178	0.26949	.	.	ENSG00000099822	ENST00000251287	D	0.98381	-4.9	3.13	3.13	0.36017	Ion transport (1);	.	.	.	.	D	0.95887	0.8661	L	0.57536	1.79	0.58432	D	0.999999	B	0.14805	0.011	B	0.17433	0.018	D	0.92647	0.6129	9	0.06365	T	0.9	.	13.7103	0.62665	0.0:0.0:1.0:0.0	.	436	Q9UL51	HCN2_HUMAN	K	436	ENSP00000251287:E436K	ENSP00000251287:E436K	E	+	1	0	HCN2	559051	1.000000	0.71417	0.825000	0.32803	0.738000	0.42128	5.333000	0.65917	1.723000	0.51488	0.505000	0.49811	GAG	HCN2	-	pfam_Ion_trans_dom		0.607	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	G	NM_001194		608051	+1	no_errors	ENST00000251287	ensembl	human	known	70_37	missense	SNP	1.000	A
MROH7	374977	genome.wustl.edu	37	1	55118859	55118859	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:55118859G>C	ENST00000421030.2	+	3	545	c.260G>C	c.(259-261)aGa>aCa	p.R87T	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.R87T|MROH7_ENST00000409996.1_Intron|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R87T|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.R87T|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	87						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GATGACAGCAGAGCTATCGCT	0.562																																																	0													73.0	73.0	73.0					1																	55118859		1961	4140	6101	SO:0001583	missense	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.260G>C	1.37:g.55118859G>C	ENSP00000396622:p.Arg87Thr		A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R87T	ENST00000421030.2	37	c.260	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	9.242	1.038625	0.19669	.	.	ENSG00000184313	ENST00000421030;ENST00000414867;ENST00000339553;ENST00000395690	T;T;T	0.02498	4.81;4.27;4.28	3.54	-3.12	0.05282	.	1.800020	0.03618	N	0.235853	T	0.02193	0.0068	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21606	0.021;0.012;0.058	B;B;B	0.14023	0.006;0.004;0.01	T	0.45745	-0.9240	10	0.44086	T	0.13	.	4.4702	0.11708	0.4754:0.2469:0.2777:0.0	.	87;87;87	F8W8P2;Q68CQ1;Q68CQ1-4	.;HEAT8_HUMAN;.	T	87	ENSP00000396622:R87T;ENSP00000343211:R87T;ENSP00000379044:R87T	ENSP00000343211:R87T	R	+	2	0	HEATR8	54891447	0.000000	0.05858	0.000000	0.03702	0.182000	0.23217	-0.399000	0.07250	-0.593000	0.05844	0.556000	0.70494	AGA	HEATR8	-	NULL		0.562	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	G	NM_198547		55118859	+1	no_errors	ENST00000421030	ensembl	human	known	70_37	missense	SNP	0.000	C
HECTD4	283450	genome.wustl.edu	37	12	112617099	112617099	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:112617099C>T	ENST00000430131.2	-	62	10969	c.9824G>A	c.(9823-9825)aGa>aAa	p.R3275K	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3551K|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3525K			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3275					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTCAGAGACTCTGATGGGCTT	0.537																																																	0													76.0	85.0	82.0					12																	112617099		2039	4203	6242	SO:0001583	missense	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9824G>A	12.37:g.112617099C>T	ENSP00000404379:p.Arg3275Lys		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.R3525K	ENST00000430131.2	37	c.10574		12	.	.	.	.	.	.	.	.	.	.	C	9.395	1.076545	0.20227	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.38401	1.14;1.14;1.14	5.62	4.58	0.56647	.	.	.	.	.	T	0.11750	0.0286	N	0.02539	-0.55	0.31208	N	0.69901	B	0.02656	0.0	B	0.01281	0.0	T	0.28459	-1.0043	9	0.05436	T	0.98	.	5.332	0.15938	0.0:0.1668:0.0:0.8332	.	3275	Q9Y4D8	K0614_HUMAN	K	3525;3275;3551	ENSP00000366783:R3525K;ENSP00000404379:R3275K;ENSP00000449784:R3551K	ENSP00000366783:R3525K	R	-	2	0	C12orf51	111101482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.847000	0.69451	1.154000	0.42482	0.591000	0.81541	AGA	HECTD4	-	NULL		0.537	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112617099	-1	no_errors	ENST00000377560	ensembl	human	known	70_37	missense	SNP	1.000	T
HERPUD1	9709	genome.wustl.edu	37	16	56966192	56966192	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:56966192C>G	ENST00000439977.2	+	1	233	c.36C>G	c.(34-36)ctC>ctG	p.L12L	HERPUD1_ENST00000379792.2_Silent_p.L12L|HERPUD1_ENST00000300302.5_Silent_p.L12L|HERPUD1_ENST00000344114.4_Silent_p.L12L|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	12	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCGTCACGCTCCTGGTGAAGA	0.721			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""		E	0													15.0	19.0	18.0					16																	56966192		2179	4272	6451	SO:0001819	synonymous_variant	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.36C>G	16.37:g.56966192C>G			E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L12	ENST00000439977.2	37	c.36	CCDS10771.1	16																																																																																			HERPUD1	-	smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.721	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	C			56966192	+1	no_errors	ENST00000439977	ensembl	human	known	70_37	silent	SNP	0.083	G
HERPUD1	9709	genome.wustl.edu	37	16	56966267	56966267	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:56966267C>G	ENST00000439977.2	+	1	308	c.111C>G	c.(109-111)ctC>ctG	p.L37L	HERPUD1_ENST00000379792.2_Silent_p.L37L|HERPUD1_ENST00000300302.5_Silent_p.L37L|HERPUD1_ENST00000344114.4_Silent_p.L37L|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	37	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TGGGCCACCTCAAGGCCCACC	0.716			T	ERG	prostate																																			Dom	yes		16	16q12.2-q13	9709	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""		E	0													8.0	11.0	10.0					16																	56966267		2119	4172	6291	SO:0001819	synonymous_variant	9709			AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.111C>G	16.37:g.56966267C>G			E9PGD1|O60644|Q6IAN8|Q96D92	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L37	ENST00000439977.2	37	c.111	CCDS10771.1	16																																																																																			HERPUD1	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.716	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERPUD1	HGNC	protein_coding	OTTHUMT00000257056.5	C			56966267	+1	no_errors	ENST00000439977	ensembl	human	known	70_37	silent	SNP	1.000	G
HEY2	23493	genome.wustl.edu	37	6	126070928	126070928	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:126070928G>C	ENST00000368364.3	+	1	203	c.6G>C	c.(4-6)aaG>aaC	p.K2N	RP11-624M8.1_ENST00000606001.1_RNA|HEY2_ENST00000368365.1_Intron|RP11-624M8.1_ENST00000451660.2_RNA|RP11-624M8.1_ENST00000432121.1_RNA	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	2					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCGGGATGAAGCGCCCCTGCG	0.731																																																	0													18.0	17.0	18.0					6																	126070928		2162	4268	6430	SO:0001583	missense	23493			AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.6G>C	6.37:g.126070928G>C	ENSP00000357348:p.Lys2Asn			Missense_Mutation	SNP	pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1	p.K2N	ENST00000368364.3	37	c.6	CCDS5131.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467051	0.84533	.	.	ENSG00000135547	ENST00000368364	T	0.72167	-0.63	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.83013	-0.0171	10	0.87932	D	0	-14.9373	17.887	0.88858	0.0:0.0:1.0:0.0	.	2	Q9UBP5	HEY2_HUMAN	N	2	ENSP00000357348:K2N	ENSP00000357348:K2N	K	+	3	2	HEY2	126112621	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	5.966000	0.70395	2.277000	0.76020	0.462000	0.41574	AAG	HEY2	-	NULL		0.731	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEY2	HGNC	protein_coding	OTTHUMT00000042077.1	G			126070928	+1	no_errors	ENST00000368364	ensembl	human	known	70_37	missense	SNP	1.000	C
HFM1	164045	genome.wustl.edu	37	1	91727882	91727882	+	Missense_Mutation	SNP	G	G	A	rs190831701		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:91727882G>A	ENST00000370425.3	-	38	4252	c.4154C>T	c.(4153-4155)tCt>tTt	p.S1385F	HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S1064F|HFM1_ENST00000462405.1_5'UTR|Y_RNA_ENST00000384090.1_RNA	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1385					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTTTTCAGAGAAAGTAAA	0.279																																																	0													60.0	61.0	61.0					1																	91727882		1940	4166	6106	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.4154C>T	1.37:g.91727882G>A	ENSP00000359454:p.Ser1385Phe		B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1385F	ENST00000370425.3	37	c.4154	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	7.328	0.618253	0.14129	.	.	ENSG00000162669	ENST00000370425;ENST00000370424	T;T	0.70749	0.0;-0.51	4.73	2.86	0.33363	.	1.914000	0.02356	N	0.076368	T	0.51787	0.1695	L	0.34521	1.04	0.09310	N	0.999998	B;P	0.50943	0.123;0.94	B;P	0.48030	0.03;0.564	T	0.47407	-0.9120	10	0.72032	D	0.01	.	7.3718	0.26806	0.0874:0.0:0.7461:0.1665	.	596;1385	B1B0B5;A2PYH4	.;HFM1_HUMAN	F	1385;1064	ENSP00000359454:S1385F;ENSP00000359453:S1064F	ENSP00000359453:S1064F	S	-	2	0	HFM1	91500470	0.041000	0.20044	0.004000	0.12327	0.001000	0.01503	1.917000	0.39996	0.720000	0.32209	-0.379000	0.06801	TCT	HFM1	-	NULL		0.279	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91727882	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.004	A
HIVEP1	3096	genome.wustl.edu	37	6	12123370	12123370	+	Silent	SNP	A	A	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:12123370A>G	ENST00000379388.2	+	4	3674	c.3342A>G	c.(3340-3342)caA>caG	p.Q1114Q	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1114					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCATGGAACAACAGATAAGTT	0.498																																																	0													67.0	69.0	68.0					6																	12123370		2022	4173	6195	SO:0001819	synonymous_variant	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3342A>G	6.37:g.12123370A>G			B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1114	ENST00000379388.2	37	c.3342	CCDS43426.1	6																																																																																			HIVEP1	-	NULL		0.498	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	A	NM_002114		12123370	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	silent	SNP	0.010	G
HIST1H2AE	3012	genome.wustl.edu	37	6	26217568	26217568	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:26217568G>A	ENST00000303910.2	+	1	404	c.366G>A	c.(364-366)gaG>gaA	p.E122E	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	122						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				AGAAGACGGAGAGCCACCATA	0.542																																																	0													52.0	53.0	53.0					6																	26217568		2203	4300	6503	SO:0001819	synonymous_variant	3012			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.366G>A	6.37:g.26217568G>A			P28001|Q76P63	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E122	ENST00000303910.2	37	c.366	CCDS4595.1	6																																																																																			HIST1H2AE	-	superfamily_Histone-fold,smart_Histone_H2A		0.542	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	G	NM_021052		26217568	+1	no_errors	ENST00000303910	ensembl	human	known	70_37	silent	SNP	1.000	A
HIST1H1B	3009	genome.wustl.edu	37	6	27834714	27834714	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:27834714C>T	ENST00000331442.3	-	1	645	c.594G>A	c.(592-594)ccG>ccA	p.P198P		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	198					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)	p.P198P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTGCCGCCTTCGGCTTAACTG	0.557																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											71.0	68.0	69.0					6																	27834714		2203	4300	6503	SO:0001819	synonymous_variant	3009			AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.594G>A	6.37:g.27834714C>T			Q14529|Q3MJ42	Silent	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.P198	ENST00000331442.3	37	c.594	CCDS4635.1	6																																																																																			HIST1H1B	-	prints_Histone_H5		0.557	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1B	HGNC	protein_coding	OTTHUMT00000043371.1	C	NM_005322		27834714	-1	no_errors	ENST00000331442	ensembl	human	known	70_37	silent	SNP	0.208	T
HMGB1P5	10354	genome.wustl.edu	37	3	22423655	22423655	+	RNA	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:22423655G>C	ENST00000451497.1	+	0	220									high mobility group box 1 pseudogene 5																		AATCAAAGGAGAACATCCTGG	0.483																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22423655G>C				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.483	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	G	NG_000897		22423655	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	1.000	C
HNRNPA2B1	3181	genome.wustl.edu	37	7	26230678	26230678	+	3'UTR	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:26230678C>T	ENST00000354667.4	-	0	2532				HNRNPA2B1_ENST00000476233.1_5'UTR	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGGCTTGCCTCAGCTGTTGAA	0.373			T	ETV1	prostate																																			Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0																																										SO:0001624	3_prime_UTR_variant	3181			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.*1302G>A	7.37:g.26230678C>T			A8K064|P22627|Q9UC98|Q9UDJ2	RNA	SNP	-	NULL	ENST00000354667.4	37	NULL	CCDS43557.1	7																																																																																			HNRNPA2B1	-	-		0.373	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	HGNC	protein_coding	OTTHUMT00000214109.1	C	NM_002137		26230678	-1	no_errors	ENST00000476233	ensembl	human	known	70_37	rna	SNP	1.000	T
HOXB6	3216	genome.wustl.edu	37	17	46674028	46674028	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:46674028G>A	ENST00000484302.2	-	3	1044	c.422C>T	c.(421-423)tCc>tTc	p.S141F	HOXB6_ENST00000225648.3_Missense_Mutation_p.S141F|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB5_ENST00000239151.5_5'Flank|HOXB3_ENST00000552000.2_Intron|HOXB6_ENST00000490419.1_5'Flank|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000465846.2_RNA			P17509	HXB6_HUMAN	homeobox B6	141					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GGGCCCAAAGGAGGAACCTGT	0.637																																																	0													47.0	47.0	47.0					17																	46674028		2203	4300	6503	SO:0001583	missense	3216				CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.422C>T	17.37:g.46674028G>A	ENSP00000420009:p.Ser141Phe		A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.S141F	ENST00000484302.2	37	c.422	CCDS11531.1	17	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756248	0.49362	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.95853	-3.83;-3.83	4.67	4.67	0.58626	Homeodomain-related (1);Homeodomain-like (1);	0.207592	0.41823	N	0.000820	D	0.89921	0.6855	L	0.36672	1.1	0.40300	D	0.978598	B	0.32731	0.382	B	0.28709	0.093	D	0.86860	0.2029	10	0.10902	T	0.67	.	10.9698	0.47432	0.0871:0.0:0.9129:0.0	.	141	P17509	HXB6_HUMAN	F	141	ENSP00000420009:S141F;ENSP00000225648:S141F	ENSP00000225648:S141F	S	-	2	0	HOXB6	44029027	0.881000	0.30235	1.000000	0.80357	0.997000	0.91878	1.511000	0.35801	2.437000	0.82529	0.563000	0.77884	TCC	HOXB6	-	superfamily_Homeodomain-like		0.637	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB6	HGNC	protein_coding	OTTHUMT00000358146.2	G			46674028	-1	no_errors	ENST00000225648	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXC9	3225	genome.wustl.edu	37	12	54396299	54396299	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:54396299G>A	ENST00000303450.4	+	2	694	c.624G>A	c.(622-624)gaG>gaA	p.E208E	HOXC9_ENST00000504557.1_3'UTR|HOXC9_ENST00000508190.1_Silent_p.E208E|HOXC-AS1_ENST00000505700.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC-AS1_ENST00000512427.1_RNA	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	208					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E208E(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						TGGAACTGGAGAAGGAGTTTC	0.557																																																	1	Substitution - coding silent(1)	lung(1)											78.0	82.0	80.0					12																	54396299		2203	4300	6503	SO:0001819	synonymous_variant	3225				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.624G>A	12.37:g.54396299G>A			B2RCN7|Q9H1I0	Silent	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E208	ENST00000303450.4	37	c.624	CCDS8869.1	12																																																																																			HOXC9	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain		0.557	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	G			54396299	+1	no_errors	ENST00000303450	ensembl	human	known	70_37	silent	SNP	1.000	A
HOXC8	3224	genome.wustl.edu	37	12	54403491	54403491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:54403491G>A	ENST00000040584.4	+	1	660	c.423G>A	c.(421-423)tgG>tgA	p.W141*	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	141					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						TGTTTCCATGGATGAGACCCC	0.547																																					GBM(197;701 2226 7002 18822 41696)												0													118.0	114.0	115.0					12																	54403491		2203	4300	6503	SO:0001587	stop_gained	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.423G>A	12.37:g.54403491G>A	ENSP00000040584:p.Trp141*		A8K4J4|O15221|O15362	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.W141*	ENST00000040584.4	37	c.423	CCDS8870.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.926908	0.97940	.	.	ENSG00000037965	ENST00000040584	.	.	.	4.01	4.01	0.46588	.	0.151148	0.47852	D	0.000205	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4245	0.75041	0.0:0.0:1.0:0.0	.	.	.	.	X	141	.	ENSP00000040584:W141X	W	+	3	0	HOXC8	52689758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.616000	0.98359	2.254000	0.74563	0.462000	0.41574	TGG	HOXC8	-	superfamily_Homeodomain-like		0.547	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	HGNC	protein_coding	OTTHUMT00000358957.2	G			54403491	+1	no_errors	ENST00000040584	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152192729	152192729	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:152192729G>C	ENST00000368801.2	-	3	1451	c.1376C>G	c.(1375-1377)tCa>tGa	p.S459*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	459					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S459*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGTAGCCTGAACCAGACAC	0.592																																																	1	Substitution - Nonsense(1)	liver(1)											172.0	172.0	172.0					1																	152192729		2203	4300	6503	SO:0001587	stop_gained	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1376C>G	1.37:g.152192729G>C	ENSP00000357791:p.Ser459*		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S459*	ENST00000368801.2	37	c.1376	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306590	0.81247	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	9.7445	0.40437	0.0:0.0:1.0:0.0	.	.	.	.	X	459	.	ENSP00000357791:S459X	S	-	2	0	HRNR	150459353	0.009000	0.17119	0.004000	0.12327	0.002000	0.02628	1.001000	0.29783	1.697000	0.51169	0.597000	0.82753	TCA	HRNR	-	NULL		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	G	XM_373868		152192729	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	nonsense	SNP	0.011	C
HSPA8	3312	genome.wustl.edu	37	11	122928447	122928447	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:122928447C>G	ENST00000532636.1	-	9	2055	c.1936G>C	c.(1936-1938)Gat>Cat	p.D646H	HSPA8_ENST00000526862.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.D646H|HSPA8_ENST00000227378.3_Missense_Mutation_p.D646H|HSPA8_ENST00000526110.1_Missense_Mutation_p.D627H|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.D493H|HSPA8_ENST00000533540.1_Missense_Mutation_p.D500H|HSPA8_ENST00000534319.1_Missense_Mutation_p.D410H|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	646					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGGCTTAATCAACCTCTTCA	0.473																																					Colon(21;486 594 5900 6733 14272)												0													62.0	65.0	64.0					11																	122928447		2202	4299	6501	SO:0001583	missense	3312			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1936G>C	11.37:g.122928447C>G	ENSP00000437125:p.Asp646His		Q9H3R6	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D646H	ENST00000532636.1	37	c.1936	CCDS8440.1	11	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384438	0.82792	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110	T;T;T;T;T;T;T	0.11063	4.64;3.93;4.64;2.81;4.64;3.46;4.71	4.65	4.65	0.58169	.	0.106594	0.64402	D	0.000016	T	0.47637	0.1456	H	0.96142	3.775	0.80722	D	1	D;D;D	0.58970	0.972;0.984;0.972	P;D;D	0.70487	0.861;0.934;0.969	T	0.67229	-0.5723	10	0.87932	D	0	.	17.8802	0.88838	0.0:1.0:0.0:0.0	.	646;493;646	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	H	646;500;646;493;646;410;627	ENSP00000437125:D646H;ENSP00000437189:D500H;ENSP00000432083:D646H;ENSP00000404372:D493H;ENSP00000227378:D646H;ENSP00000433316:D410H;ENSP00000433584:D627H	ENSP00000227378:D646H	D	-	1	0	HSPA8	122433657	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.815000	0.86186	2.285000	0.76669	0.561000	0.74099	GAT	HSPA8	-	NULL		0.473	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	C			122928447	-1	no_errors	ENST00000534624	ensembl	human	known	70_37	missense	SNP	1.000	G
ICK	22858	genome.wustl.edu	37	6	52902788	52902788	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:52902788C>T	ENST00000350082.5	-	3	451	c.105G>A	c.(103-105)atG>atA	p.M35I	ICK_ENST00000356971.3_Missense_Mutation_p.M35I	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	35	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATTTTCTTTTCATTCTAGAAG	0.308																																																	0													30.0	31.0	31.0					6																	52902788		2197	4283	6480	SO:0001583	missense	22858			AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.105G>A	6.37:g.52902788C>T	ENSP00000263043:p.Met35Ile		A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	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.M35I	ENST00000350082.5	37	c.105	CCDS4949.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.144519	0.94603	.	.	ENSG00000112144	ENST00000350082;ENST00000356971	T;T	0.62105	0.05;0.05	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	N	0.03917	-0.325	0.80722	D	1	P;D	0.54397	0.846;0.966	P;P	0.62014	0.557;0.897	T	0.58301	-0.7660	10	0.30078	T	0.28	-14.9791	18.5757	0.91154	0.0:1.0:0.0:0.0	.	35;35	Q9UPZ9-2;Q9UPZ9	.;ICK_HUMAN	I	35	ENSP00000263043:M35I;ENSP00000349458:M35I	ENSP00000263043:M35I	M	-	3	0	ICK	53010747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.752000	0.85141	2.467000	0.83353	0.561000	0.74099	ATG	ICK	-	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		0.308	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICK	HGNC	protein_coding	OTTHUMT00000040952.1	C	NM_016513		52902788	-1	no_errors	ENST00000350082	ensembl	human	known	70_37	missense	SNP	1.000	T
IFT46	56912	genome.wustl.edu	37	11	118415714	118415714	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:118415714G>C	ENST00000264021.3	-	12	1250	c.832C>G	c.(832-834)Ctc>Gtc	p.L278V	TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264020.2_Missense_Mutation_p.L329V|IFT46_ENST00000530872.1_3'UTR|TMEM25_ENST00000442938.2_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	278					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCTTCAGCGAGAGCTTTAAAA	0.408																																																	0													104.0	99.0	100.0					11																	118415714		2200	4295	6495	SO:0001583	missense	56912			AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.832C>G	11.37:g.118415714G>C	ENSP00000264021:p.Leu278Val		A8K0F6|Q9H6V5	Missense_Mutation	SNP	pfam_Intraflagellar_transp_cmplxB	p.L329V	ENST00000264021.3	37	c.985	CCDS53718.1	11	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378375	0.42207	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.47528	0.85;0.84	6.03	3.96	0.45880	.	0.153197	0.43579	D	0.000546	T	0.59891	0.2227	L	0.55481	1.735	0.80722	D	1	P;D	0.71674	0.816;0.998	B;D	0.77557	0.115;0.99	T	0.61441	-0.7062	10	0.62326	D	0.03	-6.5642	9.3013	0.37847	0.2602:0.0:0.7398:0.0	.	278;329	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	V	278;329	ENSP00000264021:L278V;ENSP00000264020:L329V	ENSP00000264020:L329V	L	-	1	0	IFT46	117920924	0.996000	0.38824	0.984000	0.44739	0.838000	0.47535	1.026000	0.30103	1.541000	0.49316	0.655000	0.94253	CTC	IFT46	-	NULL		0.408	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	HGNC	protein_coding	OTTHUMT00000389627.1	G	NM_020153		118415714	-1	no_errors	ENST00000264020	ensembl	human	known	70_37	missense	SNP	0.998	C
INTS2	57508	genome.wustl.edu	37	17	59968993	59968993	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:59968993G>C	ENST00000444766.3	-	14	1855	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	INTS2_ENST00000251334.6_Missense_Mutation_p.P586A	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	594					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCAATCAAAGGAAGTAATTGA	0.363																																																	0													107.0	103.0	105.0					17																	59968993		1867	4101	5968	SO:0001583	missense	57508			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1780C>G	17.37:g.59968993G>C	ENSP00000414237:p.Pro594Ala		Q9ULD3	Missense_Mutation	SNP	NULL	p.P594A	ENST00000444766.3	37	c.1780	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	8.864	0.947624	0.18356	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.38240	1.15	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	N	0.17594	0.5	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.34477	-0.9827	9	.	.	.	-17.3812	18.3294	0.90263	0.0:0.0:1.0:0.0	.	594	Q9H0H0	INT2_HUMAN	A	594;593	ENSP00000414237:P594A	.	P	-	1	0	INTS2	57323775	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.069000	0.93967	2.631000	0.89168	0.655000	0.94253	CCT	INTS2	-	NULL		0.363	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	G	NM_020748		59968993	-1	no_errors	ENST00000444766	ensembl	human	known	70_37	missense	SNP	1.000	C
KANK1	23189	genome.wustl.edu	37	9	745829	745829	+	3'UTR	SNP	T	T	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:745829T>G	ENST00000382303.1	+	0	5305				KANK1_ENST00000382297.2_3'UTR|KANK1_ENST00000382293.3_3'UTR|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1						negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TATATGAACTTGACACAGTAT	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	23189			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.*594T>G	9.37:g.745829T>G			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	RNA	SNP	-	NULL	ENST00000382303.1	37	NULL	CCDS34976.1	9																																																																																			KANK1	-	-		0.303	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	T	NM_015158		745829	+1	no_errors	ENST00000489369	ensembl	human	known	70_37	rna	SNP	1.000	G
KANSL2	54934	genome.wustl.edu	37	12	49072853	49072853	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:49072853C>T	ENST00000420613.2	-	4	558	c.511G>A	c.(511-513)Gat>Aat	p.D171N	KANSL2_ENST00000553086.1_Missense_Mutation_p.D171N|KANSL2_ENST00000357861.3_5'UTR|KANSL2_ENST00000550347.1_Missense_Mutation_p.D354N	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	171					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TCTATGCTATCAGCTTCACTG	0.463																																																	0													109.0	107.0	108.0					12																	49072853		2033	4198	6231	SO:0001583	missense	54934			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.511G>A	12.37:g.49072853C>T	ENSP00000415436:p.Asp171Asn		Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	NULL	p.D171N	ENST00000420613.2	37	c.511	CCDS44869.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.209659	0.95069	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000550931	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.87	4.98	0.66077	.	0.044558	0.85682	D	0.000000	D	0.82277	0.5002	L	0.40543	1.245	0.80722	D	1	D;D	0.71674	0.998;0.988	D;P	0.66351	0.943;0.654	D	0.84091	0.0390	10	0.72032	D	0.01	-0.1017	14.133	0.65268	0.0:0.9265:0.0:0.0735	.	354;171	F8VX10;Q9H9L4	.;CL041_HUMAN	N	354;171;171;108	ENSP00000449747:D354N;ENSP00000415436:D171N;ENSP00000448833:D171N;ENSP00000448129:D108N	ENSP00000415436:D171N	D	-	1	0	C12orf41	47359120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.715000	0.84713	1.477000	0.48234	0.563000	0.77884	GAT	KANSL2	-	NULL		0.463	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KANSL2	HGNC	protein_coding	OTTHUMT00000408841.1	C	NM_017822		49072853	-1	no_errors	ENST00000420613	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21319480	21319480	+	Missense_Mutation	SNP	G	G	A	rs375466482		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:21319480G>A	ENST00000583088.1	+	3	1721	c.826G>A	c.(826-828)Gag>Aag	p.E276K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E276K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	276					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGAGATTGACGAGGCCAGCCC	0.597										Prostate(3;0.18)																																							0								G	LYS/GLU	0,4406		0,0,2203	109.0	87.0	94.0		826	5.6	1.0	17		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ12	NM_021012.4	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	276/434	21319480	1,13005	2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.826G>A	17.37:g.21319480G>A	ENSP00000463778:p.Glu276Lys		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.E276K	ENST00000583088.1	37	c.826	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	15.36	2.810525	0.50421	0.0	1.16E-4	ENSG00000184185	ENST00000331718	D	0.92446	-3.04	5.58	5.58	0.84498	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.163425	0.53938	D	0.000059	D	0.89259	0.6664	L	0.44542	1.39	0.52501	D	0.999955	B	0.25235	0.121	B	0.15870	0.014	D	0.85108	0.0961	10	0.35671	T	0.21	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	276	Q14500	IRK12_HUMAN	K	276	ENSP00000328150:E276K	ENSP00000328150:E276K	E	+	1	0	KCNJ12	21260073	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	6.355000	0.73041	2.630000	0.89119	0.655000	0.94253	GAG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.597	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	G	NM_021012		21319480	+1	no_errors	ENST00000331718	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNJ4	3761	genome.wustl.edu	37	22	38822988	38822988	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:38822988C>T	ENST00000303592.3	-	2	1408	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	384	Poly-Glu.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATCTCCTCTTCCTCCTGGCTC	0.687																																																	0													32.0	42.0	39.0					22																	38822988		2202	4299	6501	SO:0001583	missense	3761			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.1150G>A	22.37:g.38822988C>T	ENSP00000306497:p.Glu384Lys		Q14D44	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3	p.E384K	ENST00000303592.3	37	c.1150	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269900	0.80469	.	.	ENSG00000168135	ENST00000303592	D	0.90324	-2.65	4.52	3.48	0.39840	.	0.226724	0.34223	U	0.004143	D	0.87067	0.6085	N	0.08118	0	0.42318	D	0.992249	D	0.67145	0.996	P	0.55923	0.787	D	0.88987	0.3412	10	0.56958	D	0.05	.	14.8107	0.69992	0.0:0.8547:0.1453:0.0	.	384	P48050	IRK4_HUMAN	K	384	ENSP00000306497:E384K	ENSP00000306497:E384K	E	-	1	0	KCNJ4	37152934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.048000	0.71046	1.012000	0.39366	0.456000	0.33151	GAA	KCNJ4	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3		0.687	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	C	NM_004981		38822988	-1	no_errors	ENST00000303592	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF24	347240	genome.wustl.edu	37	9	34286656	34286656	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:34286656G>T	ENST00000402558.2	-	5	1198	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	KIF24_ENST00000379166.2_Missense_Mutation_p.L392M|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron			Q5T7B8	KIF24_HUMAN	kinesin family member 24	392	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGCTCTTGCAGTCCCACTATC	0.438																																																	0													120.0	118.0	119.0					9																	34286656		1947	4155	6102	SO:0001583	missense	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1174C>A	9.37:g.34286656G>T	ENSP00000384433:p.Leu392Met		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L392M	ENST00000402558.2	37	c.1174	CCDS6551.2	9	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845586	0.51164	.	.	ENSG00000186638	ENST00000402558;ENST00000379166;ENST00000420188	T;T	0.80653	-1.4;-1.4	5.58	3.38	0.38709	Kinesin, motor domain (4);	.	.	.	.	D	0.91267	0.7247	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.92797	0.6253	9	0.87932	D	0	.	12.17	0.54152	0.0749:0.124:0.801:0.0	.	392;392	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	M	392	ENSP00000384433:L392M;ENSP00000368464:L392M	ENSP00000368464:L392M	L	-	1	2	KIF24	34276656	1.000000	0.71417	0.958000	0.39756	0.432000	0.31715	3.377000	0.52425	1.335000	0.45486	-0.302000	0.09304	CTG	KIF24	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.438	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF24	HGNC	protein_coding	OTTHUMT00000052150.5	G			34286656	-1	no_errors	ENST00000379166	ensembl	human	known	70_37	missense	SNP	0.998	T
KRAS	3845	genome.wustl.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys		A8K8Z5|B0LPF9|P01118|Q96D10	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.G12C	ENST00000256078.4	37	c.34	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398285	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	A
KRT38	8687	genome.wustl.edu	37	17	39597089	39597089	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:39597089C>T	ENST00000246646.3	-	1	84	c.85G>A	c.(85-87)Gac>Aac	p.D29N		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	29	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CACCCAATGTCGATGGGAGAG	0.602																																																	0													54.0	57.0	56.0					17																	39597089		2203	4300	6503	SO:0001583	missense	8687			Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.85G>A	17.37:g.39597089C>T	ENSP00000246646:p.Asp29Asn		A2RRM5|Q6A164	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.D29N	ENST00000246646.3	37	c.85	CCDS11392.1	17	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334553	0.24253	.	.	ENSG00000171360	ENST00000246646	D	0.82081	-1.57	4.6	1.43	0.22495	.	0.404228	0.20550	N	0.090132	T	0.67230	0.2871	L	0.34521	1.04	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.46261	-0.9204	10	0.19147	T	0.46	.	3.4811	0.07602	0.1783:0.5167:0.0:0.3049	.	29	O76015	KRT38_HUMAN	N	29	ENSP00000246646:D29N	ENSP00000246646:D29N	D	-	1	0	KRT38	36850615	0.001000	0.12720	0.005000	0.12908	0.012000	0.07955	0.632000	0.24583	0.551000	0.29008	0.650000	0.86243	GAC	KRT38	-	NULL		0.602	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT38	HGNC	protein_coding	OTTHUMT00000257307.2	C	NM_006771		39597089	-1	no_errors	ENST00000246646	ensembl	human	known	70_37	missense	SNP	0.001	T
KRT81	3887	genome.wustl.edu	37	12	52680187	52680187	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:52680187C>T	ENST00000327741.5	-	9	1438	c.1370G>A	c.(1369-1371)tGc>tAc	p.C457Y	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	457	Tail.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCCCGTTGCACGGAGCGCT	0.692																																																	0													19.0	19.0	19.0					12																	52680187		2149	4200	6349	SO:0001583	missense	3887			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1370G>A	12.37:g.52680187C>T	ENSP00000369349:p.Cys457Tyr		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.C457Y	ENST00000327741.5	37	c.1370	CCDS31805.1	12	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253287	0.59212	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.81499	-1.5	4.85	3.96	0.45880	.	0.337672	0.21115	N	0.079907	T	0.81973	0.4936	M	0.63428	1.95	0.37956	D	0.932812	P	0.51933	0.949	P	0.58266	0.836	T	0.80171	-0.1493	10	0.02654	T	1	.	10.3999	0.44222	0.0:0.9069:0.0:0.0931	.	457	Q14533	KRT81_HUMAN	Y	457	ENSP00000369349:C457Y	ENSP00000369349:C457Y	C	-	2	0	KRT81	50966454	0.982000	0.34865	1.000000	0.80357	0.589000	0.36550	0.663000	0.25053	1.159000	0.42565	0.462000	0.41574	TGC	KRT81	-	NULL		0.692	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT81	HGNC	protein_coding	OTTHUMT00000395128.2	C	NM_002281		52680187	-1	no_errors	ENST00000327741	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT85	3891	genome.wustl.edu	37	12	52757068	52757068	+	Missense_Mutation	SNP	G	G	A	rs549707125		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:52757068G>A	ENST00000257901.3	-	5	988	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	KRT85_ENST00000544265.1_Missense_Mutation_p.R93C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	305	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCCGGCTGCGGCTGGCAACA	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		21054	0.001		0.0	False		,,,				2504	0.0																0													92.0	70.0	77.0					12																	52757068		2203	4300	6503	SO:0001583	missense	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.913C>T	12.37:g.52757068G>A	ENSP00000257901:p.Arg305Cys		Q9NSB1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R305C	ENST00000257901.3	37	c.913	CCDS8824.1	12	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715783	0.48622	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	D;T	0.89552	-2.53;-1.19	4.87	3.97	0.46021	Filament (1);	0.000000	0.64402	D	0.000015	D	0.88669	0.6499	M	0.80422	2.495	0.35792	D	0.822472	P	0.37525	0.598	B	0.41135	0.348	D	0.91252	0.5030	10	0.62326	D	0.03	.	7.4328	0.27137	0.0846:0.0:0.6019:0.3135	.	305	P78386	KRT85_HUMAN	C	305;93	ENSP00000257901:R305C;ENSP00000440240:R93C	ENSP00000257901:R305C	R	-	1	0	KRT85	51043335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.114000	0.31196	2.243000	0.73865	0.561000	0.74099	CGC	KRT85	-	pfam_F		0.562	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT85	HGNC	protein_coding	OTTHUMT00000405184.1	G	NM_002283		52757068	-1	no_errors	ENST00000257901	ensembl	human	known	70_37	missense	SNP	1.000	A
L3MBTL1	26013	genome.wustl.edu	37	20	42163413	42163413	+	Intron	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:42163413G>T	ENST00000427442.2	+	16	1803				L3MBTL1_ENST00000418998.1_Intron|L3MBTL1_ENST00000373134.1_Intron|L3MBTL1_ENST00000373135.3_Intron|L3MBTL1_ENST00000444063.1_Intron			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)						chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						AGGACCTTCTGGCTGAGCTGG	0.537																																																	0																																										SO:0001627	intron_variant	26013			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1645-55G>T	20.37:g.42163413G>T			B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	RNA	SNP	-	NULL	ENST00000427442.2	37	NULL	CCDS46602.2	20																																																																																			L3MBTL1	-	-		0.537	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL1	HGNC	protein_coding	OTTHUMT00000079300.3	G	NM_032107		42163413	+1	no_errors	ENST00000483547	ensembl	human	known	70_37	rna	SNP	0.000	T
LGI3	203190	genome.wustl.edu	37	8	22009485	22009485	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:22009485C>G	ENST00000306317.2	-	6	812	c.523G>C	c.(523-525)Gac>Cac	p.D175H	LGI3_ENST00000424267.2_Missense_Mutation_p.D151H	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	175	LRRCT.				exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACCTTGCAGTCACAGTTGAGT	0.627																																																	0													50.0	52.0	51.0					8																	22009485		2203	4299	6502	SO:0001583	missense	203190			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.523G>C	8.37:g.22009485C>G	ENSP00000302297:p.Asp175His		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.D175H	ENST00000306317.2	37	c.523	CCDS6025.1	8	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293253	0.80914	.	.	ENSG00000168481	ENST00000306317;ENST00000424267;ENST00000517694	D;D;D	0.91407	-2.84;-2.84;-2.84	4.85	4.85	0.62838	Cysteine-rich flanking region, C-terminal (1);	0.060803	0.64402	D	0.000004	D	0.96784	0.8950	H	0.96398	3.815	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	D	0.98087	1.0407	10	0.87932	D	0	-27.2671	15.4594	0.75342	0.0:1.0:0.0:0.0	.	151;175	A5PLP2;Q8N145	.;LGI3_HUMAN	H	175;151;136	ENSP00000302297:D175H;ENSP00000399121:D151H;ENSP00000427817:D136H	ENSP00000302297:D175H	D	-	1	0	LGI3	22065430	1.000000	0.71417	0.983000	0.44433	0.875000	0.50365	7.798000	0.85924	2.228000	0.72767	0.462000	0.41574	GAC	LGI3	-	smart_Cys-rich_flank_reg_C		0.627	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	C			22009485	-1	no_errors	ENST00000306317	ensembl	human	known	70_37	missense	SNP	1.000	G
MIR99AHG	388815	genome.wustl.edu	37	21	17443607	17443607	+	lincRNA	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:17443607G>A	ENST00000458468.1	+	0	201					NR_027790.1																						AAGAGAGACAGAAAGTATCTG	0.552																																																	0													101.0	93.0	96.0					21																	17443607		2203	4300	6503			388815																															21.37:g.17443607G>A				RNA	SNP	-	NULL	ENST00000458468.1	37	NULL		21																																																																																			LINC00478	-	-		0.552	LINC00478-001	KNOWN	basic	lincRNA	LINC00478	HGNC	lincRNA	OTTHUMT00000158029.1	G			17443607	+1	no_errors	ENST00000400178	ensembl	human	known	70_37	rna	SNP	1.000	A
LMNA	4000	genome.wustl.edu	37	1	156105656	156105656	+	Intron	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:156105656C>T	ENST00000368300.4	+	6	1148				LMNA_ENST00000368299.3_Intron|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Intron|LMNA_ENST00000448611.2_Intron|LMNA_ENST00000392353.3_Intron|LMNA_ENST00000368297.1_Intron|LMNA_ENST00000368301.2_Intron|LMNA_ENST00000347559.2_Intron|LMNA_ENST00000361308.4_Intron	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ACTTAGGGCCCTTGGGAGCTC	0.622									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																								0													10.0	12.0	12.0					1																	156105656		2184	4263	6447	SO:0001627	intron_variant	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.937-36C>T	1.37:g.156105656C>T			B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	RNA	SNP	-	NULL	ENST00000368300.4	37	NULL	CCDS1129.1	1																																																																																			LMNA	-	-		0.622	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMNA	HGNC	protein_coding	OTTHUMT00000039200.2	C	NM_170707		156105656	+1	no_errors	ENST00000496738	ensembl	human	known	70_37	rna	SNP	0.102	T
LMTK2	22853	genome.wustl.edu	37	7	97823402	97823402	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:97823402C>T	ENST00000297293.5	+	11	3918	c.3625C>T	c.(3625-3627)Ctt>Ttt	p.L1209F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1209					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAATGCAGAACTTAGCAGCGG	0.597																																																	0													70.0	63.0	65.0					7																	97823402		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3625C>T	7.37:g.97823402C>T	ENSP00000297293:p.Leu1209Phe		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L1209F	ENST00000297293.5	37	c.3625	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	C	7.264	0.605867	0.14002	.	.	ENSG00000164715	ENST00000297293	T	0.78707	-1.2	6.08	4.04	0.47022	.	1.328380	0.04375	N	0.359710	T	0.66197	0.2765	L	0.31294	0.92	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.51325	-0.8720	10	0.13108	T	0.6	.	6.5974	0.22681	0.0:0.6398:0.1628:0.1974	.	1209	Q8IWU2	LMTK2_HUMAN	F	1209	ENSP00000297293:L1209F	ENSP00000297293:L1209F	L	+	1	0	LMTK2	97661338	0.000000	0.05858	0.042000	0.18584	0.108000	0.19459	-0.016000	0.12613	1.558000	0.49541	0.655000	0.94253	CTT	LMTK2	-	NULL		0.597	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	C	NM_014916		97823402	+1	no_errors	ENST00000297293	ensembl	human	known	70_37	missense	SNP	0.001	T
LINC00940	100271702	genome.wustl.edu	37	12	2039913	2039913	+	lincRNA	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:2039913C>T	ENST00000418006.1	-	0	804					NR_036546.1				long intergenic non-protein coding RNA 940																		acttgaggaacgaaataataa	0.587																																																	0																																												100271702			AK316036, DA269488		12p13.33	2013-05-30			ENSG00000235049	ENSG00000235049			48634	non-coding RNA	RNA, long non-coding							Standard	NR_036546		Approved				OTTHUMG00000168112		12.37:g.2039913C>T				RNA	SNP	-	NULL	ENST00000418006.1	37	NULL		12																																																																																			RP5-1096D14.2	-	-		0.587	LINC00940-001	KNOWN	basic	lincRNA	LOC100271702	Clone_based_vega_gene	lincRNA	OTTHUMT00000398243.1	C			2039913	-1	no_errors	ENST00000418006	ensembl	human	known	70_37	rna	SNP	0.002	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150523407	150523407	+	Intron	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:150523407C>T	ENST00000271643.4	+	2	152				ADAMTSL4_ENST00000369039.5_Intron|ADAMTSL4_ENST00000483335.1_3'UTR|AL356356.1_ENST00000538795.1_Silent_p.L112L|ADAMTSL4_ENST00000369038.2_5'Flank|MIR4257_ENST00000581735.1_RNA|ADAMTSL4_ENST00000369041.5_Intron|RP11-54A4.2_ENST00000442435.2_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)			TGGCCCACCTCAGCAATGCGA	0.547																																																	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+1036C>T	1.37:g.150523407C>T			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	NULL	p.L112	ENST00000271643.4	37	c.336	CCDS955.1	1																																																																																			AL356356.1	-	NULL		0.547	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100996516	Clone_based_ensembl_gene	protein_coding		C	NM_019032		150523407	+1	no_errors	ENST00000538795	ensembl	human	known	70_37	silent	SNP	0.291	T
LINC01168	399829	genome.wustl.edu	37	10	134788188	134788188	+	lincRNA	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:134788188G>A	ENST00000461291.2	+	0	3960					NR_046231.1																						CTGCCCAGGAGAGGTGGATAC	0.672																																																	0																																												399829																															10.37:g.134788188G>A				RNA	SNP	-	NULL	ENST00000461291.2	37	NULL		10																																																																																			RP13-137A17.6	-	-		0.672	RP13-137A17.6-001	KNOWN	basic	lincRNA	LOC399829	Clone_based_vega_gene	lincRNA	OTTHUMT00000349546.2	G			134788188	+1	no_errors	ENST00000461291	ensembl	human	known	70_37	rna	SNP	0.001	A
LONRF3	79836	genome.wustl.edu	37	X	118123583	118123583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:118123583C>A	ENST00000371628.3	+	4	1303	c.1272C>A	c.(1270-1272)tgC>tgA	p.C424*	LONRF3_ENST00000422289.2_Nonsense_Mutation_p.C168*|LONRF3_ENST00000304778.7_Nonsense_Mutation_p.C383*|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	424							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GGAAACATTGCCAGATTGAAT	0.498																																																	0													65.0	56.0	59.0					X																	118123583		2203	4300	6503	SO:0001587	stop_gained	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1272C>A	X.37:g.118123583C>A	ENSP00000360690:p.Cys424*		Q5JPN6|Q8NB00|Q9H647	Nonsense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.C424*	ENST00000371628.3	37	c.1272	CCDS35374.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.561327|4.561327	0.86335|0.86335	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	.|.	.|.	.|.	4.53|4.53	-2.6|-2.6	0.06190|0.06190	.|.	0.476404|.	0.22708|.	N|.	0.056617|.	.|T	.|0.40862	.|0.1134	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50617	.|-0.8807	.|3	0.35671|.	T|.	0.21|.	-0.6475|-0.6475	10.1888|10.1888	0.43013|0.43013	0.0:0.2438:0.0:0.7562|0.0:0.2438:0.0:0.7562	.|.	.|.	.|.	.|.	X|T	383;383;424;168|190	.|.	ENSP00000307732:C383X|.	C|P	+|+	3|1	2|0	LONRF3|LONRF3	118007611|118007611	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.067000|0.067000	0.16453|0.16453	-0.695000|-0.695000	0.05109|0.05109	-0.630000|-0.630000	0.05567|0.05567	0.513000|0.513000	0.50165|0.50165	TGC|CCA	LONRF3	-	NULL		0.498	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF3	HGNC	protein_coding	OTTHUMT00000355124.2	C	NM_024778		118123583	+1	no_errors	ENST00000371628	ensembl	human	known	70_37	nonsense	SNP	0.000	A
LPHN2	23266	genome.wustl.edu	37	1	82408901	82408901	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:82408901G>A	ENST00000370728.1	+	8	1291	c.646G>A	c.(646-648)Gat>Aat	p.D216N	LPHN2_ENST00000370723.1_Missense_Mutation_p.D216N|LPHN2_ENST00000370730.1_Missense_Mutation_p.D216N|LPHN2_ENST00000319517.6_Missense_Mutation_p.D216N|LPHN2_ENST00000370717.2_Missense_Mutation_p.D216N|LPHN2_ENST00000370713.1_Missense_Mutation_p.D216N|LPHN2_ENST00000359929.3_Missense_Mutation_p.D216N|LPHN2_ENST00000335786.5_Missense_Mutation_p.D216N|LPHN2_ENST00000370721.1_Missense_Mutation_p.D220N|LPHN2_ENST00000271029.4_Missense_Mutation_p.D216N|LPHN2_ENST00000370715.1_Missense_Mutation_p.D216N|LPHN2_ENST00000394879.1_Missense_Mutation_p.D216N|LPHN2_ENST00000370727.1_Missense_Mutation_p.D216N|LPHN2_ENST00000370725.1_Missense_Mutation_p.D216N|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	216	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGTGGTGTATGATGGTGCTGT	0.348																																																	0													124.0	124.0	124.0					1																	82408901		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.646G>A	1.37:g.82408901G>A	ENSP00000359763:p.Asp216Asn		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D216N	ENST00000370728.1	37	c.646		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.1|24.1	4.492088|4.492088	0.84962|0.84962	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.87650|.	-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28;-2.28|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.114632|.	0.64402|.	D|.	0.000019|.	T|T	0.47655|0.47655	0.1457|0.1457	N|N	0.25332|0.25332	0.735|0.735	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.995;0.997;0.995|.	D;D;D|.	0.68621|.	0.959;0.928;0.959|.	T|T	0.36016|0.36016	-0.9765|-0.9765	10|5	0.87932|.	D|.	0|.	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	216;216;216|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	N|I	220;216;216;216;216;216;216;216;216;216;216;216;216;216|83	ENSP00000359756:D220N;ENSP00000359763:D216N;ENSP00000359765:D216N;ENSP00000359762:D216N;ENSP00000359760:D216N;ENSP00000359758:D216N;ENSP00000353006:D216N;ENSP00000359750:D216N;ENSP00000359748:D216N;ENSP00000322270:D216N;ENSP00000359752:D216N;ENSP00000378344:D216N;ENSP00000271029:D216N;ENSP00000337306:D216N|.	ENSP00000271029:D216N|.	D|M	+|+	1|3	0|0	LPHN2|LPHN2	82181489|82181489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	9.869000|9.869000	0.99810|0.99810	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	GAT|ATG	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.348	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	G	NM_012302		82408901	+1	no_errors	ENST00000370717	ensembl	human	known	70_37	missense	SNP	1.000	A
LPIN1	23175	genome.wustl.edu	37	2	11945248	11945248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:11945248C>T	ENST00000256720.2	+	16	2200	c.2107C>T	c.(2107-2109)Cag>Tag	p.Q703*	LPIN1_ENST00000396097.1_Nonsense_Mutation_p.Q433*|LPIN1_ENST00000404113.2_Nonsense_Mutation_p.Q204*|LPIN1_ENST00000396099.1_Nonsense_Mutation_p.Q745*|LPIN1_ENST00000449576.2_Nonsense_Mutation_p.Q788*|LPIN1_ENST00000425416.2_Nonsense_Mutation_p.Q709*	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	703	C-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TTGGACCCATCAGGGCATCGC	0.468																																																	0													118.0	104.0	109.0					2																	11945248		2203	4300	6503	SO:0001587	stop_gained	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.2107C>T	2.37:g.11945248C>T	ENSP00000256720:p.Gln703*		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Nonsense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2	p.Q788*	ENST00000256720.2	37	c.2362	CCDS1682.1	2	.	.	.	.	.	.	.	.	.	.	C	42	9.797545	0.99267	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-28.5488	18.9934	0.92803	0.0:1.0:0.0:0.0	.	.	.	.	X	788;745;709;703;433;204	.	ENSP00000256720:Q703X	Q	+	1	0	LPIN1	11862699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.340000	0.79292	2.569000	0.86673	0.563000	0.77884	CAG	LPIN1	-	pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2		0.468	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN1	HGNC	protein_coding	OTTHUMT00000239296.3	C	NM_145693		11945248	+1	no_errors	ENST00000449576	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LRCOL1	100507055	genome.wustl.edu	37	12	133181325	133181325	+	lincRNA	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:133181325C>G	ENST00000545517.1	-	0	397							A6NCL2	LRCL1_HUMAN	leucine rich colipase-like 1						digestion (GO:0007586)|lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	enzyme activator activity (GO:0008047)										GGAAGATGGTCTTAGGGGTGC	0.647																																																	0																																												100507055				CCDS73547.1	12q24.33	2012-07-02			ENSG00000204583	ENSG00000204583			44160	protein-coding gene	gene with protein product							Standard	NM_001195520		Approved		uc021rgr.1	A6NCL2	OTTHUMG00000168043		12.37:g.133181325C>G			H9BFB1	RNA	SNP	-	NULL	ENST00000545517.1	37	NULL		12																																																																																			LRCOL1	-	-		0.647	LRCOL1-003	KNOWN	basic	lincRNA	LRCOL1	HGNC	lincRNA	OTTHUMT00000397683.1	C	NM_001195520		133181325	-1	no_errors	ENST00000376608	ensembl	human	known	70_37	rna	SNP	0.184	G
LRP4	4038	genome.wustl.edu	37	11	46896353	46896353	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:46896353G>C	ENST00000378623.1	-	28	4469	c.4227C>G	c.(4225-4227)atC>atG	p.I1409M	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1409					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTCATACCTGATAACATCCA	0.473																																																	0													104.0	89.0	94.0					11																	46896353		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4227C>G	11.37:g.46896353G>C	ENSP00000367888:p.Ile1409Met		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I1409M	ENST00000378623.1	37	c.4227	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020310	0.54576	.	.	ENSG00000134569	ENST00000378623	D	0.94046	-3.34	5.67	3.79	0.43588	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97102	0.9053	M	0.93420	3.415	0.48288	D	0.999626	D	0.89917	1.0	D	0.87578	0.998	D	0.97255	0.9900	10	0.87932	D	0	.	10.6169	0.45456	0.2062:0.0:0.7938:0.0	.	1409	O75096	LRP4_HUMAN	M	1409	ENSP00000367888:I1409M	ENSP00000367888:I1409M	I	-	3	3	LRP4	46852929	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.248000	0.43160	1.404000	0.46819	0.561000	0.74099	ATC	LRP4	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.473	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	G	NM_002334		46896353	-1	no_errors	ENST00000378623	ensembl	human	known	70_37	missense	SNP	1.000	C
LRRC37B	114659	genome.wustl.edu	37	17	30354813	30354813	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:30354813G>A	ENST00000341671.7	+	3	1782	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	LRRC37B_ENST00000584368.1_Missense_Mutation_p.E605K|LRRC37B_ENST00000327564.7_Missense_Mutation_p.E620K|LRRC37B_ENST00000394713.3_Missense_Mutation_p.E593K|LRRC37B_ENST00000543378.2_Missense_Mutation_p.E511K|LRRC37B_ENST00000581786.1_3'UTR	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	593						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTATTTGACTGAATTACCTAA	0.294																																																	0													57.0	58.0	57.0					17																	30354813		2195	4291	6486	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.1777G>A	17.37:g.30354813G>A	ENSP00000340519:p.Glu593Lys		Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E593K	ENST00000341671.7	37	c.1777	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	12.25	1.880854	0.33255	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	1.99	1.99	0.26369	.	.	.	.	.	T	0.59972	0.2233	L	0.43152	1.355	0.22305	N	0.99921	D;D	0.76494	0.999;0.98	D;P	0.71870	0.975;0.855	T	0.43766	-0.9371	9	0.72032	D	0.01	.	7.5514	0.27800	0.0:0.0:1.0:0.0	.	593;593	Q17RC9;Q96QE4	.;LR37B_HUMAN	K	511;620;593;593	ENSP00000443345:E511K;ENSP00000332536:E620K;ENSP00000378202:E593K;ENSP00000340519:E593K	ENSP00000332536:E620K	E	+	1	0	LRRC37B	27378926	0.888000	0.30383	0.924000	0.36721	0.278000	0.26855	1.224000	0.32539	1.435000	0.47434	0.291000	0.19559	GAA	LRRC37B	-	smart_Leu-rich_rpt_typical-subtyp		0.294	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	G	NM_052888		30354813	+1	no_errors	ENST00000341671	ensembl	human	known	70_37	missense	SNP	0.962	A
LRRC37A2	474170	genome.wustl.edu	37	17	44632680	44632680	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:44632680C>G	ENST00000576629.1	+	14	5439	c.4944C>G	c.(4942-4944)ctC>ctG	p.L1648L	ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000336125.5_3'UTR|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_Silent_p.L1648L			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1648						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GACAGCCGCTCTGGTTTAAAG	0.418																																																	0													96.0	157.0	136.0					17																	44632680		2051	4144	6195	SO:0001819	synonymous_variant	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4944C>G	17.37:g.44632680C>G			B7ZMC3	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L1648	ENST00000576629.1	37	c.4944	CCDS42353.1	17																																																																																			LRRC37A2	-	NULL		0.418	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	C	NM_001006607		44632680	+1	no_errors	ENST00000333412	ensembl	human	known	70_37	silent	SNP	0.000	G
LRRK1	79705	genome.wustl.edu	37	15	101523744	101523744	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:101523744G>A	ENST00000388948.3	+	4	632	c.273G>A	c.(271-273)ctG>ctA	p.L91L	LRRK1_ENST00000284395.5_Silent_p.L64L|LRRK1_ENST00000532029.2_Silent_p.L91L	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAGCTTCTGAGCATCCCGG	0.582																																																	0													105.0	106.0	105.0					15																	101523744		1952	4139	6091	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.273G>A	15.37:g.101523744G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.L91	ENST00000388948.3	37	c.273	CCDS42086.1	15																																																																																			LRRK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.582	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	G	NM_024652		101523744	+1	no_errors	ENST00000388948	ensembl	human	known	70_37	silent	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39910438	39910438	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:39910438G>C	ENST00000372915.3	+	79	19320	c.19233G>C	c.(19231-19233)aaG>aaC	p.K6411N	MACF1_ENST00000289893.4_Missense_Mutation_p.K4955N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4453N|MACF1_ENST00000539005.1_Missense_Mutation_p.K4323N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4453N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6549N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4453N|MACF1_ENST00000564288.1_Missense_Mutation_p.K6512N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6411					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGGCTCCAAGACAGAACAGA	0.458																																																	0													110.0	99.0	102.0					1																	39910438		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19233G>C	1.37:g.39910438G>C	ENSP00000362006:p.Lys6411Asn		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K4453N	ENST00000372915.3	37	c.13359		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.359|9.359	1.067497|1.067497	0.20067|0.20067	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50548	.|0.74;0.74;0.74;0.74;0.74;0.74	6.16|6.16	2.4|2.4	0.29515|0.29515	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.25044|0.25044	0.0608|0.0608	N|N	0.00996|0.00996	-1.065|-1.065	0.80722|0.80722	D|D	1|1	.|D;B	.|0.62365	.|0.991;0.033	.|P;B	.|0.60609	.|0.877;0.051	T|T	0.30208|0.30208	-0.9986|-0.9986	5|10	.|0.06365	.|T	.|0.9	.|.	6.1564|6.1564	0.20340|0.20340	0.318:0.1328:0.5492:0.0|0.318:0.1328:0.5492:0.0	.|.	.|6411;4453	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	H|N	3457|4453;6411;4453;4453;4323;4955	.|ENSP00000439537:K4453N;ENSP00000362006:K6411N;ENSP00000354573:K4453N;ENSP00000313438:K4453N;ENSP00000444364:K4323N;ENSP00000289893:K4955N	.|ENSP00000289893:K4955N	D|K	+|+	1|3	0|2	MACF1|MACF1	39683025|39683025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.964000|1.964000	0.40462|0.40462	0.682000|0.682000	0.31407|0.31407	-0.142000|-0.142000	0.14014|0.14014	GAC|AAG	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39910438	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	C
MAP2	4133	genome.wustl.edu	37	2	210517948	210517948	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:210517948G>A	ENST00000360351.4	+	4	560	c.54G>A	c.(52-54)ccG>ccA	p.P18P	MAP2_ENST00000392194.1_Silent_p.P18P|MAP2_ENST00000199940.6_Silent_p.P18P|MAP2_ENST00000361559.4_Silent_p.P18P|MAP2_ENST00000447185.1_Silent_p.P18P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	18					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P18P(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCTCAGCACCGCTAACAGAGG	0.493																																					Pancreas(27;423 979 28787 29963)												2	Substitution - coding silent(2)	endometrium(2)											95.0	68.0	77.0					2																	210517948		2203	4300	6503	SO:0001819	synonymous_variant	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.54G>A	2.37:g.210517948G>A			Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.P18	ENST00000360351.4	37	c.54	CCDS2384.1	2																																																																																			MAP2	-	NULL		0.493	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210517948	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	silent	SNP	0.012	A
SPATA32	124783	genome.wustl.edu	37	17	43341844	43341844	+	5'Flank	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:43341844C>T	ENST00000331780.4	-	0	0				MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_5'Flank|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32						spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											GGGAGGCATTCTGCTTGCCCC	0.632																																																	0																																										SO:0001631	upstream_gene_variant	9020			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363		17.37:g.43341844C>T	Exception_encountered		Q7Z4U1|Q8N6V6	RNA	SNP	-	NULL	ENST00000331780.4	37	NULL	CCDS32669.1	17																																																																																			MAP3K14	-	-		0.632	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K14	HGNC	protein_coding	OTTHUMT00000450946.1	C	NM_152343		43341844	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	0.000	T
MAP7D1	55700	genome.wustl.edu	37	1	36636740	36636740	+	Missense_Mutation	SNP	C	C	T	rs552661941		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:36636740C>T	ENST00000373151.2	+	2	431	c.215C>T	c.(214-216)tCa>tTa	p.S72L	MAP7D1_ENST00000373150.4_Missense_Mutation_p.S72L|MAP7D1_ENST00000316156.4_Missense_Mutation_p.S72L	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	72	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GAGAGCCCCTCAGGGCAGGTC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13747	0.001		0.0	False		,,,				2504	0.0																0													49.0	55.0	53.0					1																	36636740		2203	4300	6503	SO:0001583	missense	55700			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.215C>T	1.37:g.36636740C>T	ENSP00000362244:p.Ser72Leu		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	pfam_E-MAP-115	p.S72L	ENST00000373151.2	37	c.215	CCDS30673.1	1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711607	0.30322	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52	4.35	2.41	0.29592	.	1.318270	0.05376	N	0.536343	T	0.03434	0.0099	N	0.08118	0	0.09310	N	0.999998	B;B;P	0.35328	0.0;0.0;0.495	B;B;B	0.24974	0.0;0.0;0.057	T	0.35599	-0.9782	10	0.40728	T	0.16	1.8138	7.1624	0.25671	0.0:0.7226:0.1781:0.0993	.	72;72;72	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	L	33;72;72;72;33	ENSP00000390091:S33L;ENSP00000320228:S72L;ENSP00000362243:S72L;ENSP00000362244:S72L;ENSP00000435126:S33L	ENSP00000320228:S72L	S	+	2	0	MAP7D1	36409327	0.000000	0.05858	0.009000	0.14445	0.842000	0.47809	0.436000	0.21526	1.147000	0.42369	0.462000	0.41574	TCA	MAP7D1	-	NULL		0.652	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	C	NM_018067		36636740	+1	no_errors	ENST00000373151	ensembl	human	known	70_37	missense	SNP	0.013	T
MARCH4	57574	genome.wustl.edu	37	2	217234646	217234646	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:217234646G>A	ENST00000273067.4	-	1	2104	c.338C>T	c.(337-339)tCt>tTt	p.S113F		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	113	Pro-rich.					Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TTCCACAGAAGAAGGTGGCAA	0.672																																																	0													17.0	17.0	17.0					2																	217234646		2203	4300	6503	SO:0001583	missense	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.338C>T	2.37:g.217234646G>A	ENSP00000273067:p.Ser113Phe		Q4KMN7|Q86WR8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S113F	ENST00000273067.4	37	c.338	CCDS33376.1	2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857345	0.51376	.	.	ENSG00000144583	ENST00000273067	T	0.16457	2.34	5.76	5.76	0.90799	.	0.796847	0.12086	N	0.500849	T	0.11623	0.0283	N	0.14661	0.345	0.28561	N	0.911101	P	0.39964	0.697	B	0.32864	0.154	T	0.12116	-1.0560	10	0.62326	D	0.03	-1.934	15.4456	0.75228	0.0:0.0:1.0:0.0	.	113	Q9P2E8	MARH4_HUMAN	F	113	ENSP00000273067:S113F	ENSP00000273067:S113F	S	-	2	0	MARCH4	216942891	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.452000	0.60054	2.717000	0.92951	0.585000	0.79938	TCT	MARCH4	-	NULL		0.672	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	G	NM_020814		217234646	-1	no_errors	ENST00000273067	ensembl	human	known	70_37	missense	SNP	1.000	A
MARS	4141	genome.wustl.edu	37	12	57906036	57906036	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:57906036C>T	ENST00000262027.5	+	14	1787	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	MARS_ENST00000315473.5_Silent_p.F317F|RN7SL312P_ENST00000582079.1_RNA|RNU6-594P_ENST00000517056.1_RNA	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	551					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTATCAGTTCATGGCCAAAG	0.498																																																	0													162.0	153.0	156.0					12																	57906036		2203	4300	6503	SO:0001819	synonymous_variant	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.1653C>T	12.37:g.57906036C>T			B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Silent	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.F551	ENST00000262027.5	37	c.1653	CCDS8942.1	12																																																																																			MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth		0.498	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57906036	+1	no_errors	ENST00000262027	ensembl	human	known	70_37	silent	SNP	1.000	T
MBD6	114785	genome.wustl.edu	37	12	57919450	57919450	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:57919450C>G	ENST00000355673.3	+	6	1055	c.699C>G	c.(697-699)ctC>ctG	p.L233L	MBD6_ENST00000431731.2_Silent_p.L233L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	233	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GAGCTGCCCTCAGATCCAGCC	0.632																																																	0													120.0	137.0	131.0					12																	57919450		2203	4300	6503	SO:0001819	synonymous_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.699C>G	12.37:g.57919450C>G			Q8N3M0|Q8NA81|Q96Q00	Silent	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L233	ENST00000355673.3	37	c.699	CCDS8944.1	12																																																																																			MBD6	-	NULL		0.632	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	C			57919450	+1	no_errors	ENST00000355673	ensembl	human	known	70_37	silent	SNP	0.998	G
MED15	51586	genome.wustl.edu	37	22	20905774	20905774	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:20905774C>T	ENST00000263205.7	+	3	277	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	MED15_ENST00000541476.1_Splice_Site_p.H44Y|MED15_ENST00000292733.7_Splice_Site_p.H70Y|MED15_ENST00000425759.2_Splice_Site_p.H30Y|MED15_ENST00000382974.2_Splice_Site_p.H70Y|MED15_ENST00000406969.1_Splice_Site_p.H44Y|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	70	Interaction with SREBF1.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCGAGACATTCGTAAGTAAGA	0.488																																																	0													236.0	213.0	221.0					22																	20905774		2203	4300	6503	SO:0001630	splice_region_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.208+1C>T	22.37:g.20905774C>T			D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	pfam_Mediator_Med15_met	p.H70Y	ENST00000263205.7	37	c.208	CCDS33602.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.66|15.66	2.897854|2.897854	0.52227|0.52227	.|.	.|.	ENSG00000099917|ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000432052;ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000445189;ENST00000542312;ENST00000451058;ENST00000457322;ENST00000428629;ENST00000424287|ENST00000423862	T|.	0.42131|.	0.98|.	5.62|5.62	4.6|4.6	0.57074|0.57074	Mediator complex, subunit Med15, metazoa (1);|.	0.112493|.	0.64402|.	D|.	0.000012|.	T|T	0.62563|0.62563	0.2438|0.2438	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.24368|.	0.011;0.009;0.009;0.011;0.102|.	B;B;B;B;B|.	0.09377|.	0.002;0.001;0.001;0.002;0.004|.	T|T	0.58607|0.58607	-0.7607|-0.7607	10|5	0.51188|.	T|.	0.08|.	.|.	11.8989|11.8989	0.52671|0.52671	0.0:0.9157:0.0:0.0843|0.0:0.9157:0.0:0.0843	.|.	89;44;70;70;70|.	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3|.	.;.;.;MED15_HUMAN;.|.	Y|L	44;44;44;30;70;70;44;70;44;44;44;44;31;23;23|37	ENSP00000372434:H70Y|.	ENSP00000263205:H70Y|.	H|S	+|+	1|2	0|0	MED15|MED15	19235774|19235774	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.704000|0.704000	0.40688|0.40688	3.616000|3.616000	0.54174|0.54174	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CAT|TCA	MED15	-	pfam_Mediator_Med15_met		0.488	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	C	NM_015889	Missense_Mutation	20905774	+1	no_errors	ENST00000263205	ensembl	human	known	70_37	missense	SNP	1.000	T
MEP1A	4224	genome.wustl.edu	37	6	46806840	46806840	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:46806840C>G	ENST00000230588.4	+	14	2217	c.2208C>G	c.(2206-2208)atC>atG	p.I736M		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	736					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CCTTCTCCATCATCGCCATCC	0.602																																																	0													93.0	75.0	81.0					6																	46806840		2203	4300	6503	SO:0001583	missense	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2208C>G	6.37:g.46806840C>G	ENSP00000230588:p.Ile736Met		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom	p.I736M	ENST00000230588.4	37	c.2208	CCDS4918.1	6	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883234	0.33255	.	.	ENSG00000112818	ENST00000230588	T	0.32023	1.47	5.8	4.91	0.64330	.	0.268721	0.47455	N	0.000235	T	0.21550	0.0519	L	0.52573	1.65	0.38921	D	0.95774	P;P	0.51653	0.947;0.905	P;P	0.48270	0.572;0.549	T	0.05784	-1.0864	10	0.66056	D	0.02	-7.8425	9.236	0.37466	0.1509:0.777:0.0:0.0721	.	764;736	B7ZL91;Q16819	.;MEP1A_HUMAN	M	736	ENSP00000230588:I736M	ENSP00000230588:I736M	I	+	3	3	MEP1A	46914799	0.759000	0.28416	0.165000	0.22776	0.050000	0.14768	1.223000	0.32527	1.397000	0.46682	0.650000	0.86243	ATC	MEP1A	-	pirsf_Pept_M12A_Meprin		0.602	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEP1A	HGNC	protein_coding	OTTHUMT00000040803.1	C	NM_005588		46806840	+1	no_errors	ENST00000230588	ensembl	human	known	70_37	missense	SNP	0.806	G
METTL21A	151194	genome.wustl.edu	37	2	208477923	208477923	+	Silent	SNP	C	C	T	rs548492945		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:208477923C>T	ENST00000411432.1	-	4	720	c.504G>A	c.(502-504)gtG>gtA	p.V168V	METTL21A_ENST00000426075.1_Silent_p.V168V|METTL21A_ENST00000272839.3_Silent_p.V186V|METTL21A_ENST00000477919.1_5'Flank|METTL21A_ENST00000406927.2_Silent_p.V168V|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000448007.2_Silent_p.V168V|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000442521.1_Silent_p.V168V|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	168					peptidyl-lysine methylation (GO:0018022)|protein methylation (GO:0006479)	cytoplasm (GO:0005737)	ATPase binding (GO:0051117)|Hsp70 protein binding (GO:0030544)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTAAAAGAATCACAGAGTGAT	0.393																																																	0													144.0	145.0	145.0					2																	208477923		2203	4300	6503	SO:0001819	synonymous_variant	151194			AK093812, AF455817	CCDS2376.1	2q33.3	2013-09-30	2011-03-03	2011-03-03	ENSG00000144401	ENSG00000144401			30476	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 557b"", ""heat shock protein 70kDa lysine (K) methyltransferase"""	615257	"""family with sequence similarity 119, member A"""	FAM119A		23921388	Standard	NM_145280		Approved	LOC151194, HCA557b, HSPA-KMT	uc010fuk.1	Q8WXB1	OTTHUMG00000132934	ENST00000411432.1:c.504G>A	2.37:g.208477923C>T			Q53RV0|Q8N1Z9|Q96GH6	Silent	SNP	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom	p.V168	ENST00000411432.1	37	c.504	CCDS2376.1	2																																																																																			METTL21A	-	pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA		0.393	METTL21A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21A	HGNC	protein_coding	OTTHUMT00000337044.1	C	NM_145280		208477923	-1	no_errors	ENST00000406927	ensembl	human	known	70_37	silent	SNP	0.994	T
MFHAS1	9258	genome.wustl.edu	37	8	8750098	8750098	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:8750098G>A	ENST00000276282.6	-	1	1057	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	157										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAGGTGAGCGAGAGCGCCCA	0.687																																					Melanoma(103;1201 2045 17515 28966)												0																																										SO:0001819	synonymous_variant	9258			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.471C>T	8.37:g.8750098G>A			Q96CI0	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L157	ENST00000276282.6	37	c.471	CCDS34844.1	8																																																																																			MFHAS1	-	smart_Leu-rich_rpt_typical-subtyp		0.687	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFHAS1	HGNC	protein_coding	OTTHUMT00000374724.2	G	NM_004225		8750098	-1	no_errors	ENST00000276282	ensembl	human	known	70_37	silent	SNP	0.183	A
LOC90768	90768	genome.wustl.edu	37	4	183063759	183063759	+	RNA	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:183063759G>C	ENST00000315302.2	-	0	1303				AC108142.1_ENST00000511052.1_RNA|AC108142.1_ENST00000509012.1_RNA|AC108142.1_ENST00000505873.1_RNA|RP11-402C9.1_ENST00000505389.1_RNA|AC108142.1_ENST00000513752.1_RNA|AC108142.1_ENST00000508968.1_RNA	NR_027107.1																						CCTCTGCTCTGAAGCTGAAAG	0.607																																																	0																																												90768																															4.37:g.183063759G>C				RNA	SNP	-	NULL	ENST00000315302.2	37	NULL		4																																																																																			AC108142.1	-	-		0.607	AC108142.1-001	KNOWN	basic	antisense	MGC45800	Clone_based_vega_gene	antisense	OTTHUMT00000257786.2	G			183063759	-1	no_errors	ENST00000315302	ensembl	human	known	70_37	rna	SNP	0.000	C
LOC90768	90768	genome.wustl.edu	37	4	183063783	183063783	+	RNA	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:183063783G>T	ENST00000315302.2	-	0	1279				AC108142.1_ENST00000511052.1_RNA|AC108142.1_ENST00000509012.1_RNA|AC108142.1_ENST00000505873.1_RNA|RP11-402C9.1_ENST00000505389.1_RNA|AC108142.1_ENST00000513752.1_RNA|AC108142.1_ENST00000508968.1_RNA	NR_027107.1																						AGGGTGGCGCGAGGCGGCTGG	0.637																																																	0																																												90768																															4.37:g.183063783G>T				RNA	SNP	-	NULL	ENST00000315302.2	37	NULL		4																																																																																			AC108142.1	-	-		0.637	AC108142.1-001	KNOWN	basic	antisense	MGC45800	Clone_based_vega_gene	antisense	OTTHUMT00000257786.2	G			183063783	-1	no_errors	ENST00000315302	ensembl	human	known	70_37	rna	SNP	0.008	T
SPTBN5	51332	genome.wustl.edu	37	15	42158710	42158710	+	Intron	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:42158710G>A	ENST00000320955.6	-	37	6708				MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGTGGGACATGAATGCTGCAA	0.672																																																	0													21.0	22.0	22.0					15																	42158710		1962	4139	6101	SO:0001627	intron_variant	100423013			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6481-19C>T	15.37:g.42158710G>A				RNA	SNP	-	NULL	ENST00000320955.6	37	NULL		15																																																																																			MIR4310	-	-		0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	MIR4310	HGNC	protein_coding	OTTHUMT00000420237.1	G	NM_016642		42158710	-1	no_errors	ENST00000582950	ensembl	human	known	70_37	rna	SNP	0.000	A
KMT2E	55904	genome.wustl.edu	37	7	104753433	104753433	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:104753433C>T	ENST00000311117.3	+	27	5775	c.5230C>T	c.(5230-5232)Cat>Tat	p.H1744Y	KMT2E_ENST00000334877.4_Missense_Mutation_p.H1702Y|KMT2E_ENST00000257745.4_Missense_Mutation_p.H1744Y|SRPK2_ENST00000493638.1_Intron	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1744	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CCACCCACCTCATCAAGGACC	0.547																																																	0													276.0	215.0	236.0					7																	104753433		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5230C>T	7.37:g.104753433C>T	ENSP00000312379:p.His1744Tyr		B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.H1744Y	ENST00000311117.3	37	c.5230	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	c	9.089	1.001280	0.19121	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.94184	-3.36;-3.37;-3.36	3.94	3.94	0.45596	.	0.000000	0.45126	D	0.000381	D	0.93446	0.7909	N	0.19112	0.55	0.80722	D	1	D;D	0.67145	0.996;0.981	D;D	0.75484	0.986;0.954	D	0.94698	0.7880	10	0.62326	D	0.03	.	16.3877	0.83522	0.0:1.0:0.0:0.0	.	1664;1744	F8W6H1;Q8IZD2	.;MLL5_HUMAN	Y	1744;1702;1664;1744	ENSP00000312379:H1744Y;ENSP00000335599:H1702Y;ENSP00000257745:H1744Y	ENSP00000257745:H1744Y	H	+	1	0	MLL5	104540669	0.998000	0.40836	1.000000	0.80357	0.936000	0.57629	3.149000	0.50655	1.934000	0.56057	0.454000	0.30748	CAT	MLL5	-	NULL		0.547	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104753433	+1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	1.000	T
MT-ND5	4540	genome.wustl.edu	37	M	13056	13056	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrM:13056C>T	ENST00000361567.2	+	1	720	c.720C>T	c.(718-720)ccC>ccT	p.P240P	MT-CYB_ENST00000361789.2_5'Flank|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	240					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						ATAGAAGGCCCCACCCCAGTC	0.542																																																	0																																										SO:0001819	synonymous_variant	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.720C>T	M.37:g.13056C>T			Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.P240	ENST00000361567.2	37	c.720		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5		0.542	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		C	YP_003024036		13056	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	silent	SNP	NULL	T
MTTP	4547	genome.wustl.edu	37	4	100534168	100534168	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:100534168C>G	ENST00000265517.5	+	15	2291	c.2088C>G	c.(2086-2088)ctC>ctG	p.L696L	MTTP_ENST00000457717.1_Silent_p.L696L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Silent_p.L723L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	696					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	CAGCCATCCTCTTTGATGTTC	0.502																																																	0													205.0	186.0	192.0					4																	100534168		2203	4300	6503	SO:0001819	synonymous_variant	4547				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2088C>G	4.37:g.100534168C>G			A8K428|Q08AM4|Q6P5T3	Silent	SNP	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.L696	ENST00000265517.5	37	c.2088	CCDS3651.1	4																																																																																			MTTP	-	NULL		0.502	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	HGNC	protein_coding	OTTHUMT00000253662.3	C			100534168	+1	no_errors	ENST00000265517	ensembl	human	known	70_37	silent	SNP	1.000	G
MUC12	10071	genome.wustl.edu	37	7	100647059	100647059	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:100647059C>T	ENST00000379442.3	+	5	13644	c.13644C>T	c.(13642-13644)ctC>ctT	p.L4548L	MUC12_ENST00000536621.1_Silent_p.L4405L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4548	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CCTCAGGCCTCGTTGAAGAAT	0.542																																																	0													12.0	22.0	19.0					7																	100647059		682	1582	2264	SO:0001819	synonymous_variant	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13644C>T	7.37:g.100647059C>T			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.L4548	ENST00000379442.3	37	c.13644		7																																																																																			MUC12	-	NULL		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100647059	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	silent	SNP	0.000	T
MYH2	4620	genome.wustl.edu	37	17	10440596	10440596	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:10440596C>T	ENST00000245503.5	-	16	2235	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.M617I|MYH2_ENST00000532183.2_Missense_Mutation_p.M617I|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	617	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTAGAGTTTTCATTGCAGACT	0.438																																																	0													153.0	160.0	158.0					17																	10440596		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1851G>A	17.37:g.10440596C>T	ENSP00000245503:p.Met617Ile		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M617I	ENST00000245503.5	37	c.1851	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776944	0.31411	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.87103	-2.21;-2.21;-2.21	5.53	4.5	0.54988	Myosin head, motor domain (2);	0.771594	0.10707	U	0.643349	T	0.77398	0.4124	N	0.13198	0.31	0.26612	N	0.972818	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.59445	-0.7453	10	0.17369	T	0.5	.	14.2612	0.66085	0.1493:0.8507:0.0:0.0	.	617;617	Q567P6;Q9UKX2	.;MYH2_HUMAN	I	617	ENSP00000433944:M617I;ENSP00000245503:M617I;ENSP00000380367:M617I	ENSP00000245503:M617I	M	-	3	0	MYH2	10381321	0.983000	0.35010	0.996000	0.52242	0.888000	0.51559	0.712000	0.25779	2.611000	0.88343	0.650000	0.86243	ATG	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.438	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10440596	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	0.998	T
MYNN	55892	genome.wustl.edu	37	3	169496595	169496595	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:169496595C>G	ENST00000349841.5	+	3	969	c.306C>G	c.(304-306)ctC>ctG	p.L102L	MYNN_ENST00000392733.1_Silent_p.L102L|MYNN_ENST00000356716.4_Silent_p.L102L|MYNN_ENST00000544106.1_Silent_p.L102L|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CTGACTATCTCAAAGTGGAAG	0.353																																																	0													94.0	102.0	100.0					3																	169496595		2203	4300	6503	SO:0001819	synonymous_variant	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.306C>G	3.37:g.169496595C>G			B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L102	ENST00000349841.5	37	c.306	CCDS3207.1	3																																																																																			MYNN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.353	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	C	NM_018657		169496595	+1	no_errors	ENST00000349841	ensembl	human	known	70_37	silent	SNP	1.000	G
MYO5A	4644	genome.wustl.edu	37	15	52697558	52697558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:52697558G>A	ENST00000399231.3	-	9	1222	c.979C>T	c.(979-981)Cga>Tga	p.R327*	MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R327*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R327*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R327*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R327*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	327	Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GCAAGTATTCGGAAAATTCCC	0.378																																																	0													90.0	80.0	83.0					15																	52697558		1857	4100	5957	SO:0001587	stop_gained	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.979C>T	15.37:g.52697558G>A	ENSP00000382177:p.Arg327*		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R327*	ENST00000399231.3	37	c.979	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.249566	0.97412	.	.	ENSG00000197535	ENST00000399231;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000553916	.	.	.	5.73	5.73	0.89815	.	0.182257	0.49305	D	0.000148	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0328	0.71720	0.0:0.0:0.8578:0.1421	.	.	.	.	X	327	.	ENSP00000348693:R327X	R	-	1	2	MYO5A	50484850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.837000	0.55820	2.868000	0.98415	0.555000	0.69702	CGA	MYO5A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	G	NM_000259		52697558	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MYOM1	8736	genome.wustl.edu	37	18	3215001	3215001	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:3215001G>A	ENST00000356443.4	-	2	554	c.221C>T	c.(220-222)tCg>tTg	p.S74L	MYOM1_ENST00000261606.7_Missense_Mutation_p.S74L|MYOM1_ENST00000400569.3_Missense_Mutation_p.S74L|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	74					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGCGTGCTGCGAGGCCTGCTG	0.682																																																	0													27.0	31.0	30.0					18																	3215001		2063	4206	6269	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.221C>T	18.37:g.3215001G>A	ENSP00000348821:p.Ser74Leu		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S74L	ENST00000356443.4	37	c.221	CCDS45824.1	18	.	.	.	.	.	.	.	.	.	.	G	7.637	0.680120	0.14907	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.54479	0.73;0.73;0.57	4.67	1.76	0.24704	.	0.585017	0.16736	N	0.201624	T	0.33644	0.0870	N	0.24115	0.695	0.09310	N	1	B;B	0.26975	0.165;0.003	B;B	0.22152	0.038;0.001	T	0.23154	-1.0196	10	0.87932	D	0	.	6.0517	0.19789	0.0925:0.0:0.3801:0.5273	.	74;74	P52179-2;P52179	.;MYOM1_HUMAN	L	74	ENSP00000348821:S74L;ENSP00000383413:S74L;ENSP00000261606:S74L	ENSP00000261606:S74L	S	-	2	0	MYOM1	3205001	0.858000	0.29795	0.000000	0.03702	0.005000	0.04900	3.104000	0.50306	0.148000	0.19059	0.655000	0.94253	TCG	MYOM1	-	NULL		0.682	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYOM1	HGNC	protein_coding	OTTHUMT00000441037.2	G	NM_003803		3215001	-1	no_errors	ENST00000356443	ensembl	human	known	70_37	missense	SNP	0.000	A
NAA60	79903	genome.wustl.edu	37	16	3526230	3526230	+	Start_Codon_SNP	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:3526230G>A	ENST00000407558.4	+	3	306	c.3G>A	c.(1-3)atG>atA	p.M1I	NAA60_ENST00000573580.1_Intron|NAA60_ENST00000572584.1_Start_Codon_SNP_p.M1I|NAA60_ENST00000608722.1_Start_Codon_SNP_p.M1I|NAA60_ENST00000572942.1_Start_Codon_SNP_p.M1I|NAA60_ENST00000360862.5_Intron|NAA60_ENST00000575076.1_Start_Codon_SNP_p.M1I|NAA60_ENST00000577013.1_Start_Codon_SNP_p.M1I|NAA60_ENST00000610180.1_Start_Codon_SNP_p.M1I|NAA60_ENST00000424546.2_Intron|NAA60_ENST00000570819.1_Start_Codon_SNP_p.M1I|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000421765.3_Start_Codon_SNP_p.M1I|NAA60_ENST00000414063.2_Start_Codon_SNP_p.M1I|NAA60_ENST00000576916.1_Start_Codon_SNP_p.M1I|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608993.1_Intron			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	1					cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						AGGTGTGAATGACAGAGGTGG	0.622																																																	0													47.0	51.0	50.0					16																	3526230		2178	4280	6458	SO:0001582	initiator_codon_variant	79903				CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.3G>A	16.37:g.3526230G>A	ENSP00000385903:p.Met1Ile		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.M1I	ENST00000407558.4	37	c.3	CCDS45396.1	16	.	.	.	.	.	.	.	.	.	.	G	31	5.104607	0.94245	.	.	ENSG00000122390	ENST00000407558;ENST00000414063;ENST00000421765	T;T	0.44881	0.91;0.91	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	.	.	.	0.80722	D	1	P	0.49447	0.924	P	0.57776	0.827	T	0.61486	-0.7053	9	0.54805	T	0.06	.	18.9669	0.92700	0.0:0.0:1.0:0.0	.	1	Q9H7X0	NAA60_HUMAN	I	1	ENSP00000385903:M1I;ENSP00000393224:M1I	ENSP00000385903:M1I	M	+	3	0	NAA60	3466231	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.253000	0.95501	2.733000	0.93635	0.561000	0.74099	ATG	NAA60	-	NULL		0.622	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NAA60	HGNC	protein_coding	OTTHUMT00000317235.2	G	NM_024845	Missense_Mutation	3526230	+1	no_errors	ENST00000407558	ensembl	human	known	70_37	missense	SNP	1.000	A
NASP	4678	genome.wustl.edu	37	1	46073046	46073046	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:46073046G>C	ENST00000350030.3	+	6	550	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	NASP_ENST00000351223.3_Intron|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.E91Q|NASP_ENST00000402363.3_Missense_Mutation_p.E157Q	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	155	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGGAGAAAAAGAAGAAGCCAA	0.393																																																	0													56.0	56.0	56.0					1																	46073046		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.463G>C	1.37:g.46073046G>C	ENSP00000255120:p.Glu155Gln		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E157Q	ENST00000350030.3	37	c.469	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362967	0.61403	.	.	ENSG00000132780	ENST00000527470;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;T;T;T	0.94687	-3.49;0.68;0.61;0.59	5.33	5.33	0.75918	.	0.317639	0.28606	N	0.014760	D	0.94817	0.8326	N	0.24115	0.695	0.29779	N	0.834167	D;D;D;D;D	0.76494	0.999;0.998;0.993;0.998;0.999	D;P;P;P;D	0.64776	0.929;0.852;0.782;0.852;0.929	D	0.92102	0.5689	10	0.87932	D	0	-8.477	19.3913	0.94584	0.0:0.0:1.0:0.0	.	91;155;55;155;157	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	Q	91;91;157;55;155;118	ENSP00000437241:E91Q;ENSP00000438871:E91Q;ENSP00000384529:E157Q;ENSP00000255120:E155Q	ENSP00000345532:E55Q	E	+	1	0	NASP	45845633	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.490000	0.60319	2.639000	0.89480	0.650000	0.86243	GAA	NASP	-	NULL		0.393	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	G	NM_002482		46073046	+1	no_errors	ENST00000402363	ensembl	human	known	70_37	missense	SNP	1.000	C
NAV2	89797	genome.wustl.edu	37	11	20070498	20070498	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:20070498C>T	ENST00000396087.3	+	16	4295	c.4196C>T	c.(4195-4197)tCg>tTg	p.S1399L	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Missense_Mutation_p.S1312L|NAV2_ENST00000311043.8_Missense_Mutation_p.S462L|NAV2_ENST00000349880.4_Missense_Mutation_p.S1376L|NAV2_ENST00000533917.1_Missense_Mutation_p.S462L|NAV2_ENST00000527559.2_Missense_Mutation_p.S1328L|NAV2_ENST00000396085.1_Missense_Mutation_p.S1376L|NAV2_ENST00000540292.1_Missense_Mutation_p.S1330L	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1399	Ser-rich.				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						TCAGCCCACTCGGCCCCTTCC	0.632																																																	0													85.0	77.0	80.0					11																	20070498		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.4196C>T	11.37:g.20070498C>T	ENSP00000379396:p.Ser1399Leu		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.S1399L	ENST00000396087.3	37	c.4196	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	33	5.210681	0.95069	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.34667	1.35;1.45;1.45;1.5;1.38;1.38;2.99;1.68;2.99	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000015	T	0.60483	0.2272	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.991	D;D;D;D;D;P	0.91635	0.987;0.996;0.99;0.99;0.999;0.452	T	0.52830	-0.8523	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	1376;1399;462;462;1376;1312	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	L	1312;1376;1376;1399;1328;1330;462;462;462;462	ENSP00000353871:S1312L;ENSP00000379394:S1376L;ENSP00000309577:S1376L;ENSP00000379396:S1399L;ENSP00000435395:S1328L;ENSP00000443489:S1330L;ENSP00000437316:S462L;ENSP00000437136:S462L;ENSP00000312169:S462L	.	S	+	2	0	NAV2	20027074	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	6.986000	0.76200	2.941000	0.99782	0.655000	0.94253	TCG	NAV2	-	NULL		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20070498	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T
NAV2	89797	genome.wustl.edu	37	11	20070575	20070575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:20070575C>T	ENST00000396087.3	+	16	4372	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Nonsense_Mutation_p.Q1338*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.Q488*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.Q1402*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.Q488*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.Q1354*|NAV2_ENST00000396085.1_Nonsense_Mutation_p.Q1402*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.Q1356*	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1425	Ser-rich.				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						CCTGGGCTTTCAGTCTGTCAG	0.632																																																	0													112.0	104.0	107.0					11																	20070575		2203	4300	6503	SO:0001587	stop_gained	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.4273C>T	11.37:g.20070575C>T	ENSP00000379396:p.Gln1425*		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Nonsense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.Q1425*	ENST00000396087.3	37	c.4273	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	45	11.753463	0.99599	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	.	.	.	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	.	.	.	X	1338;1402;1402;1425;1354;1356;488;488;488;488	.	.	Q	+	1	0	NAV2	20027151	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	5.455000	0.66658	2.941000	0.99782	0.655000	0.94253	CAG	NAV2	-	NULL		0.632	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20070575	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NBPF20	100288142	genome.wustl.edu	37	1	148342507	148342507	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:148342507C>G	ENST00000369202.1	-	5	726	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	NBPF20_ENST00000414710.2_Missense_Mutation_p.E177Q			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	177	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						TCAGCCTCCTCAACTTGAACA	0.413																																																	0													295.0	376.0	347.0					1																	148342507		1510	2709	4219	SO:0001583	missense	100288142				CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.529G>C	1.37:g.148342507C>G	ENSP00000358203:p.Glu177Gln			Missense_Mutation	SNP	pfam_NBPF_dom	p.E177Q	ENST00000369202.1	37	c.529		1	.	.	.	.	.	.	.	.	.	.	.	9.087	1.000879	0.19121	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000369189;ENST00000414710	T;T;T;T	0.04551	3.91;3.93;4.02;3.6	0.109	0.109	0.14578	DUF1220 (1);	.	.	.	.	T	0.04407	0.0121	.	.	.	0.21290	N	0.999733	P;P;B;P	0.51653	0.938;0.947;0.155;0.659	B;P;B;B	0.53490	0.192;0.727;0.099;0.403	T	0.31998	-0.9923	6	0.59425	D	0.04	.	.	.	.	.	102;177;177;102	Q6P3W6-2;Q6P3W6;F5H1Q5;Q5VTG7	.;NBPFA_HUMAN;.;.	Q	177;177;102;177	ENSP00000358203:E177Q;ENSP00000358189:E177Q;ENSP00000358190:E102Q;ENSP00000389520:E177Q	ENSP00000358189:E177Q	E	-	1	0	NBPF20	146709131	0.619000	0.27059	0.042000	0.18584	0.049000	0.14656	0.670000	0.25157	0.181000	0.19994	0.184000	0.17185	GAG	NBPF20	-	NULL		0.413	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	NBPF20	HGNC	protein_coding	OTTHUMT00000100689.2	C			148342507	-1	no_errors	ENST00000369202	ensembl	human	known	70_37	missense	SNP	0.046	G
NDST2	8509	genome.wustl.edu	37	10	75567903	75567903	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:75567903G>A	ENST00000309979.6	-	3	800	c.244C>T	c.(244-246)Cga>Tga	p.R82*	RP11-574K11.31_ENST00000603027.1_Nonsense_Mutation_p.R82*|NDST2_ENST00000299641.4_5'UTR|NDST2_ENST00000398701.2_5'Flank			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	82	Heparan sulfate N-deacetylase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.R82*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGTTCAGTTCGAGCTGTCTCT	0.617																																																	1	Substitution - Nonsense(1)	skin(1)											47.0	41.0	43.0					10																	75567903		2203	4300	6503	SO:0001587	stop_gained	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.244C>T	10.37:g.75567903G>A	ENSP00000310657:p.Arg82*		Q2TB32|Q59H89	Nonsense_Mutation	SNP	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom	p.R82*	ENST00000309979.6	37	c.244	CCDS7335.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.407885	0.98265	.	.	ENSG00000166507	ENST00000309979	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7607	0.96316	0.0:0.0:1.0:0.0	.	.	.	.	X	82	.	ENSP00000310657:R82X	R	-	1	2	NDST2	75237909	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.976000	0.76135	2.686000	0.91538	0.561000	0.74099	CGA	NDST2	-	pfam_Heparan_SO4_deacetylase		0.617	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST2	HGNC	protein_coding	OTTHUMT00000048710.1	G	NM_003635		75567903	-1	no_errors	ENST00000309979	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NSMF	26012	genome.wustl.edu	37	9	140348844	140348844	+	Splice_Site	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:140348844C>G	ENST00000371475.3	-	7	1062	c.831G>C	c.(829-831)caG>caC	p.Q277H	NSMF_ENST00000371473.3_Splice_Site_p.Q277H|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000371482.1_5'UTR|NSMF_ENST00000339554.3_Splice_Site_p.Q74H|NSMF_ENST00000371474.3_Splice_Site_p.Q252H|NSMF_ENST00000437259.1_Splice_Site_p.Q254H|NSMF_ENST00000392812.4_Splice_Site_p.Q254H|NSMF_ENST00000371468.1_Splice_Site_p.Q10H|NSMF_ENST00000541195.1_Splice_Site_p.Q74H|NSMF_ENST00000371472.2_Splice_Site_p.Q275H|NSMF_ENST00000265663.7_Splice_Site_p.Q275H	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor	277					cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										GGGTCTTACTCTGGGCCTTCA	0.677																																																	0													19.0	25.0	23.0					9																	140348844		1878	3578	5456	SO:0001630	splice_region_variant	26012				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.832+1G>C	9.37:g.140348844C>G			Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Missense_Mutation	SNP	NULL	p.Q277H	ENST00000371475.3	37	c.831	CCDS48069.1	9	.	.	.	.	.	.	.	.	.	.	C	18.56	3.651302	0.67472	.	.	ENSG00000165802	ENST00000339554;ENST00000371475;ENST00000265663;ENST00000437259;ENST00000392812;ENST00000371474;ENST00000371473;ENST00000371472;ENST00000541195;ENST00000371468	T;T;T;T;T;T;T;T;T	0.54866	0.77;0.55;0.74;0.61;0.61;0.61;0.68;0.74;0.58	4.23	3.07	0.35406	.	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	L	0.59436	1.845	0.48135	D	0.999596	P;P;P;P;P;P;P	0.49358	0.895;0.913;0.654;0.797;0.923;0.797;0.797	P;P;P;P;P;P;B	0.53722	0.632;0.733;0.632;0.549;0.544;0.526;0.424	T	0.59434	-0.7455	10	0.87932	D	0	-9.6194	6.7015	0.23227	0.0:0.7588:0.0:0.2412	.	254;74;58;252;277;277;275	Q6X4W1-3;F5GZW0;Q9NTU2;Q2TB96;Q6X4W1-4;Q6X4W1;Q6X4W1-2	.;.;.;.;.;NELF_HUMAN;.	H	74;277;275;254;254;252;277;275;74;10	ENSP00000342966:Q74H;ENSP00000360530:Q277H;ENSP00000265663:Q275H;ENSP00000412007:Q254H;ENSP00000376559:Q254H;ENSP00000360529:Q252H;ENSP00000360528:Q277H;ENSP00000360527:Q275H;ENSP00000444177:Q74H	ENSP00000265663:Q275H	Q	-	3	2	NELF	139468665	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.629000	0.37071	1.895000	0.54865	0.455000	0.32223	CAG	NELF	-	NULL		0.677	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELF	HGNC	protein_coding		C	NM_015537	Missense_Mutation	140348844	-1	no_errors	ENST00000371475	ensembl	human	known	70_37	missense	SNP	1.000	G
NFATC4	4776	genome.wustl.edu	37	14	24838969	24838969	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:24838969C>G	ENST00000250373.4	+	2	506	c.365C>G	c.(364-366)tCt>tGt	p.S122C	NFATC4_ENST00000553879.1_Missense_Mutation_p.S52C|NFATC4_ENST00000539237.2_Missense_Mutation_p.S154C|NFATC4_ENST00000556279.1_Missense_Mutation_p.S154C|NFATC4_ENST00000422617.3_Missense_Mutation_p.S110C|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.S185C|NFATC4_ENST00000554661.1_Missense_Mutation_p.S52C|NFATC4_ENST00000557451.1_Missense_Mutation_p.S52C|NFATC4_ENST00000424781.2_Missense_Mutation_p.S135C|NFATC4_ENST00000413692.2_Missense_Mutation_p.S185C|NFATC4_ENST00000555453.1_Missense_Mutation_p.S110C|NFATC4_ENST00000553708.1_Missense_Mutation_p.S122C|NFATC4_ENST00000556169.1_Missense_Mutation_p.S110C|NFATC4_ENST00000554344.1_Missense_Mutation_p.S52C|NFATC4_ENST00000554050.1_Missense_Mutation_p.S122C|NFATC4_ENST00000555590.1_Missense_Mutation_p.S135C|NFATC4_ENST00000554966.1_Missense_Mutation_p.S135C|NFATC4_ENST00000553469.1_Missense_Mutation_p.S154C	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	122	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ACCTCCATCTCTCCCACGCCG	0.682																																																	0													9.0	11.0	10.0					14																	24838969		2175	4249	6424	SO:0001583	missense	4776			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.365C>G	14.37:g.24838969C>G	ENSP00000250373:p.Ser122Cys		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	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.S185C	ENST00000250373.4	37	c.554	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	C	15.60	2.882650	0.51908	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000554903;ENST00000250373;ENST00000553708;ENST00000557674;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	3.76	2.87	0.33458	.	0.000000	0.64402	D	0.000007	T	0.28101	0.0693	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.65815	0.99;0.995;0.995;0.995;0.99;0.995;0.995;0.995;0.995;0.995;0.995;0.992;0.995;0.992	P;P;P;P;P;P;P;P;P;P;P;P;P;P	0.55824	0.642;0.713;0.785;0.785;0.726;0.785;0.785;0.785;0.785;0.785;0.785;0.707;0.785;0.615	T	0.01566	-1.1323	10	0.51188	T	0.08	-6.9657	8.6862	0.34238	0.0:0.8837:0.0:0.1163	.	110;110;154;154;135;135;135;185;185;110;154;99;185;122	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;B4DU09;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	C	185;185;135;135;135;154;154;154;122;122;122;122;99;52;52;52;110;52;110;110	ENSP00000388910:S185C;ENSP00000452039:S185C;ENSP00000451224:S135C;ENSP00000450644:S135C;ENSP00000388668:S135C;ENSP00000439350:S154C;ENSP00000452270:S154C;ENSP00000451502:S154C;ENSP00000451151:S122C;ENSP00000451853:S122C;ENSP00000250373:S122C;ENSP00000450590:S122C;ENSP00000452352:S99C;ENSP00000452349:S52C;ENSP00000450469:S52C;ENSP00000450733:S52C;ENSP00000451454:S110C;ENSP00000451284:S52C;ENSP00000396788:S110C;ENSP00000450686:S110C	ENSP00000250373:S122C	S	+	2	0	NFATC4	23908809	1.000000	0.71417	0.998000	0.56505	0.668000	0.39293	6.890000	0.75633	0.795000	0.33922	0.558000	0.71614	TCT	NFATC4	-	NULL		0.682	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	C	NM_004554		24838969	+1	no_errors	ENST00000413692	ensembl	human	known	70_37	missense	SNP	1.000	G
NFYA	4800	genome.wustl.edu	37	6	41065114	41065114	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:41065114G>A	ENST00000341376.6	+	10	1210	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Missense_Mutation_p.E308K	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	337					cellular lipid metabolic process (GO:0044255)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAAGCCGATGAAGAAGCAAT	0.453																																																	0													227.0	183.0	198.0					6																	41065114		2203	4300	6503	SO:0001583	missense	4800				CCDS4849.1, CCDS4850.1	6p21.3	2008-11-11			ENSG00000001167	ENSG00000001167			7804	protein-coding gene	gene with protein product		189903				1774067, 9612081	Standard	NM_002505		Approved	HAP2, CBF-B, NF-YA	uc003opo.3	P23511	OTTHUMG00000014669	ENST00000341376.6:c.1009G>A	6.37:g.41065114G>A	ENSP00000345702:p.Glu337Lys		Q8IXU0	Missense_Mutation	SNP	pfam_TF_CBFB,smart_TF_CBFB,pfscan_TF_CBFB,prints_TF_CBFB	p.E337K	ENST00000341376.6	37	c.1009	CCDS4849.1	6	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742706	0.69418	.	.	ENSG00000001167	ENST00000341376;ENST00000353205	.	.	.	6.05	6.05	0.98169	.	0.228496	0.46758	D	0.000274	T	0.24044	0.0582	L	0.29908	0.895	0.50171	D	0.999851	P;P	0.39424	0.673;0.544	B;B	0.28916	0.096;0.032	T	0.07271	-1.0781	9	0.19590	T	0.45	-18.8443	17.7572	0.88452	0.0:0.0:1.0:0.0	.	308;337	P23511-2;P23511	.;NFYA_HUMAN	K	337;308	.	ENSP00000345702:E337K	E	+	1	0	NFYA	41173092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.052000	0.76634	2.878000	0.98634	0.650000	0.86243	GAA	NFYA	-	NULL		0.453	NFYA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYA	HGNC	protein_coding	OTTHUMT00000040496.1	G			41065114	+1	no_errors	ENST00000341376	ensembl	human	known	70_37	missense	SNP	1.000	A
NHS	4810	genome.wustl.edu	37	X	17746202	17746202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:17746202C>T	ENST00000380060.3	+	6	4251	c.3913C>T	c.(3913-3915)Cag>Tag	p.Q1305*	NHS_ENST00000398097.3_Nonsense_Mutation_p.Q1149*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1326					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATCACATCTCAGTCAGACTC	0.463																																																	0													96.0	85.0	88.0					X																	17746202		2203	4300	6503	SO:0001587	stop_gained	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3913C>T	X.37:g.17746202C>T	ENSP00000369400:p.Gln1305*		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	NULL	p.Q1305*	ENST00000380060.3	37	c.3913	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	44	10.577219	0.99431	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.74	4.83	0.62350	.	0.958154	0.08693	N	0.907587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-6.3944	13.9262	0.63964	0.0:0.7299:0.2701:0.0	.	.	.	.	X	1305;1149;1147	.	ENSP00000369397:Q1147X	Q	+	1	0	NHS	17656123	0.357000	0.24938	0.133000	0.22050	0.853000	0.48598	1.301000	0.33447	2.426000	0.82243	0.544000	0.68410	CAG	NHS	-	NULL		0.463	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17746202	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	nonsense	SNP	0.014	T
NISCH	11188	genome.wustl.edu	37	3	52524094	52524094	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:52524094G>C	ENST00000479054.1	+	19	3532	c.3460G>C	c.(3460-3462)Gaa>Caa	p.E1154Q	NISCH_ENST00000345716.4_Missense_Mutation_p.E1154Q			Q9Y2I1	NISCH_HUMAN	nischarin	1154					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	TCTTCAGGTTGAAAACGAGGA	0.612																																																	0													68.0	55.0	59.0					3																	52524094		2203	4300	6503	SO:0001583	missense	11188			AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3460G>C	3.37:g.52524094G>C	ENSP00000418232:p.Glu1154Gln		C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox	p.E1154Q	ENST00000479054.1	37	c.3460	CCDS33767.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016886	0.75161	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.14766	2.48;2.48	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	L	0.36672	1.1	0.49687	D	0.99981	D	0.71674	0.998	D	0.78314	0.991	T	0.02813	-1.1107	10	0.87932	D	0	-16.4259	18.6842	0.91558	0.0:0.0:1.0:0.0	.	1154	Q9Y2I1	NISCH_HUMAN	Q	1154;1154;498	ENSP00000418232:E1154Q;ENSP00000339958:E1154Q	ENSP00000339958:E1154Q	E	+	1	0	NISCH	52499134	1.000000	0.71417	0.983000	0.44433	0.522000	0.34438	8.666000	0.91149	2.432000	0.82394	0.561000	0.74099	GAA	NISCH	-	NULL		0.612	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NISCH	HGNC	protein_coding	OTTHUMT00000351357.1	G	NM_007184		52524094	+1	no_errors	ENST00000345716	ensembl	human	known	70_37	missense	SNP	1.000	C
NLRP7	199713	genome.wustl.edu	37	19	55452863	55452863	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:55452863T>C	ENST00000590030.1	-	1	257	c.217A>G	c.(217-219)Aac>Gac	p.N73D	NLRP7_ENST00000340844.2_Missense_Mutation_p.N73D|NLRP7_ENST00000328092.5_Missense_Mutation_p.N73D|NLRP7_ENST00000588756.1_Missense_Mutation_p.N73D|NLRP7_ENST00000448121.2_Missense_Mutation_p.N73D|NLRP7_ENST00000446217.1_Missense_Mutation_p.N101D|NLRP7_ENST00000592784.1_Missense_Mutation_p.N73D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	73	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCCAAGATGTTCACAGTCGCA	0.448																																																	0													137.0	136.0	137.0					19																	55452863		2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.217A>G	19.37:g.55452863T>C	ENSP00000465520:p.Asn73Asp		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.N101D	ENST00000590030.1	37	c.301	CCDS33109.1	19	.	.	.	.	.	.	.	.	.	.	T	6.327	0.428518	0.11987	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	1.81	-3.61	0.04556	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.27278	0.0669	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.22414	0.069;0.069;0.028;0.001	B;B;B;B	0.23716	0.048;0.048;0.029;0.001	T	0.17077	-1.0381	9	0.56958	D	0.05	.	4.404	0.11400	0.0:0.312:0.4374:0.2506	.	101;73;73;73	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	D	73;73;73;101;73	ENSP00000329568:N73D;ENSP00000409137:N73D;ENSP00000339491:N73D;ENSP00000414273:N101D	ENSP00000329568:N73D	N	-	1	0	NLRP7	60144675	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.072000	0.11486	-1.377000	0.02123	0.379000	0.24179	AAC	NLRP7	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN		0.448	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	T	NM_139176		55452863	-1	no_errors	ENST00000446217	ensembl	human	known	70_37	missense	SNP	0.000	C
NOL6	65083	genome.wustl.edu	37	9	33466916	33466916	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:33466916C>G	ENST00000379471.2	-	15	2031	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	NOL6_ENST00000455041.2_Silent_p.L596L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	648					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTACCTCTTTCAGGCCTTGGA	0.527											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													220.0	237.0	231.0					9																	33466916		2203	4300	6503	SO:0001819	synonymous_variant	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1944G>C	9.37:g.33466916C>G		840	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Silent	SNP	pfam_Nrap	p.L648	ENST00000379471.2	37	c.1944		9																																																																																			NOL6	-	pfam_Nrap		0.527	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	C	NM_022917		33466916	-1	no_errors	ENST00000297990	ensembl	human	known	70_37	silent	SNP	0.000	G
NMRK1	54981	genome.wustl.edu	37	9	77676397	77676397	+	3'UTR	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:77676397G>A	ENST00000361092.4	-	0	903				NMRK1_ENST00000482537.1_5'UTR|NMRK1_ENST00000376811.1_3'UTR|NMRK1_ENST00000376808.4_3'UTR	NM_017881.2	NP_060351.1	Q9NWW6	NRK1_HUMAN	nicotinamide riboside kinase 1						NAD biosynthetic process (GO:0009435)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|ribosylnicotinamide kinase activity (GO:0050262)										GTATCTTGGTGAAGGTTCTTA	0.358																																																	0													202.0	167.0	177.0					9																	77676397		692	1591	2283	SO:0001624	3_prime_UTR_variant	54981			AK097144	CCDS6650.1, CCDS47981.1	9q21.31	2012-03-30	2012-03-30	2012-03-30	ENSG00000106733	ENSG00000106733			26057	protein-coding gene	gene with protein product		608704	"""chromosome 9 open reading frame 95"""	C9orf95		15137942	Standard	NM_017881		Approved	FLJ20559, NRK1, bA235O14.2	uc004ajr.4	Q9NWW6	OTTHUMG00000020034	ENST00000361092.4:c.*67C>T	9.37:g.77676397G>A			Q5W124|Q8N430	RNA	SNP	-	NULL	ENST00000361092.4	37	NULL	CCDS6650.1	9																																																																																			NMRK1	-	-		0.358	NMRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMRK1	HGNC	protein_coding	OTTHUMT00000052705.1	G	NM_017881		77676397	-1	no_errors	ENST00000482537	ensembl	human	known	70_37	rna	SNP	0.000	A
NR1H3	10062	genome.wustl.edu	37	11	47283259	47283259	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:47283259G>A	ENST00000467728.1	+	5	2108	c.870G>A	c.(868-870)ctG>ctA	p.L290L	NR1H3_ENST00000481889.2_Silent_p.L245L|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Silent_p.L245L|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Silent_p.L290L|NR1H3_ENST00000405576.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	290	Ligand-binding. {ECO:0000255}.				apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L290L(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TTGCCCTGCTGAAGACCTCTG	0.582																																																	1	Substitution - coding silent(1)	lung(1)											56.0	54.0	55.0					11																	47283259		2201	4298	6499	SO:0001819	synonymous_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.870G>A	11.37:g.47283259G>A			A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt	p.L290	ENST00000467728.1	37	c.870	CCDS7929.1	11																																																																																			NR1H3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt		0.582	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	G			47283259	+1	no_errors	ENST00000441012	ensembl	human	known	70_37	silent	SNP	1.000	A
NR1H3	10062	genome.wustl.edu	37	11	47283301	47283301	+	Intron	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:47283301G>A	ENST00000467728.1	+	5	2126				NR1H3_ENST00000481889.2_Missense_Mutation_p.M259I|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000527949.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405576.1_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGCAAGGGATGAAGGGAGAAG	0.592																																																	0													44.0	43.0	43.0					11																	47283301		2201	4298	6499	SO:0001627	intron_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.888+24G>A	11.37:g.47283301G>A			A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.M259I	ENST00000467728.1	37	c.777	CCDS7929.1	11	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536533	0.45176	.	.	ENSG00000025434	ENST00000481889	D	0.91407	-2.84	5.44	1.05	0.20165	.	.	.	.	.	T	0.81432	0.4821	.	.	.	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.66044	-0.6021	7	.	.	.	.	8.5019	0.33163	0.0866:0.3944:0.5189:0.0	.	259	E9PLL4	.	I	259	ENSP00000433271:M259I	.	M	+	3	0	NR1H3	47239877	.	.	0.628000	0.29241	0.656000	0.38851	.	.	0.670000	0.31165	-0.140000	0.14226	ATG	NR1H3	-	smart_Nucl_hrmn_rcpt_lig-bd_core		0.592	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	G			47283301	+1	no_errors	ENST00000481889	ensembl	human	putative	70_37	missense	SNP	0.180	A
NPAS4	266743	genome.wustl.edu	37	11	66190194	66190194	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:66190194G>C	ENST00000311034.2	+	4	656	c.480G>C	c.(478-480)caG>caC	p.Q160H		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	160					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCAGGCGCCAGAGTGCAGGCA	0.547																																																	0													110.0	106.0	107.0					11																	66190194		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.480G>C	11.37:g.66190194G>C	ENSP00000311196:p.Gln160His		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.Q160H	ENST00000311034.2	37	c.480	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003554	0.74932	.	.	ENSG00000174576	ENST00000311034	T	0.51071	0.72	5.74	5.74	0.90152	.	0.000000	0.53938	D	0.000045	T	0.69024	0.3065	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72701	-0.4214	10	0.72032	D	0.01	-10.1682	10.7862	0.46407	0.0855:0.0:0.9145:0.0	.	160	Q8IUM7	NPAS4_HUMAN	H	160	ENSP00000311196:Q160H	ENSP00000311196:Q160H	Q	+	3	2	NPAS4	65946770	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.666000	0.68059	2.702000	0.92279	0.655000	0.94253	CAG	NPAS4	-	NULL		0.547	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	G	NM_178864		66190194	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	1.000	C
NRD1	4898	genome.wustl.edu	37	1	52264001	52264001	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:52264001C>G	ENST00000354831.7	-	24	2917	c.2728G>C	c.(2728-2730)Gag>Cag	p.E910Q	RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.E710Q|RP4-657D16.6_ENST00000607338.1_RNA|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000539524.1_Missense_Mutation_p.E778Q|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000352171.7_Missense_Mutation_p.E842Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	841					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCAGAGACTCAAGGGAAAGG	0.478																																																	0													91.0	88.0	89.0					1																	52264001		2203	4300	6503	SO:0001583	missense	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2728G>C	1.37:g.52264001C>G	ENSP00000346890:p.Glu910Gln		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.E910Q	ENST00000354831.7	37	c.2728	CCDS559.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.279284|3.279284	0.59758|0.59758	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169;ENST00000544028|ENST00000440943	T;T;T;T|.	0.35236|.	2.95;2.95;2.95;1.32|.	5.64|5.64	5.64|5.64	0.86602|0.86602	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);|.	0.270116|.	0.41712|.	D|.	0.000822|.	T|.	0.71358|.	0.3330|.	M|M	0.66939|0.66939	2.045|2.045	0.46954|0.46954	D|D	0.999265|0.999265	B;B;B|.	0.31153|.	0.264;0.31;0.31|.	B;B;B|.	0.33960|.	0.108;0.173;0.173|.	T|.	0.69202|.	-0.5207|.	10|.	0.49607|.	T|.	0.09|.	-3.6363|-3.6363	13.108|13.108	0.59257|0.59257	0.0:0.9277:0.0:0.0722|0.0:0.9277:0.0:0.0722	.|.	842;841;910|.	F5H6R2;O43847;B1AKJ5|.	.;NRDC_HUMAN;.|.	Q|S	842;910;778;272;842;710|256	ENSP00000262679:E842Q;ENSP00000346890:E910Q;ENSP00000444416:E778Q;ENSP00000442262:E710Q|.	ENSP00000262679:E842Q|.	E|X	-|-	1|2	0|2	NRD1|NRD1	52036589|52036589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.435000|4.435000	0.59941|0.59941	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GAG|TGA	NRD1	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd		0.478	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	C	NM_002525		52264001	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	missense	SNP	1.000	G
NRIP2	83714	genome.wustl.edu	37	12	2937120	2937120	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:2937120C>T	ENST00000337508.4	-	4	712	c.672G>A	c.(670-672)gaG>gaA	p.E224E	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	224					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACACCACAGTCTCCTGCCCCA	0.612																																																	0													58.0	58.0	58.0					12																	2937120		2203	4300	6503	SO:0001819	synonymous_variant	83714			AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.672G>A	12.37:g.2937120C>T			A2RRE3|B4DV61	Silent	SNP	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic	p.E224	ENST00000337508.4	37	c.672	CCDS8514.1	12																																																																																			NRIP2	-	pfam_Peptidase_aspartic_euk-pred,superfamily_Peptidase_aspartic		0.612	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRIP2	HGNC	protein_coding	OTTHUMT00000253090.4	C	NM_031474		2937120	-1	no_errors	ENST00000337508	ensembl	human	known	70_37	silent	SNP	0.998	T
NSMAF	8439	genome.wustl.edu	37	8	59547876	59547876	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:59547876C>G	ENST00000038176.3	-	4	496	c.284G>C	c.(283-285)aGa>aCa	p.R95T	NSMAF_ENST00000427130.2_Missense_Mutation_p.R126T	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	95					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TGTGAAGTGTCTATTGGCTCC	0.294																																																	0													95.0	96.0	96.0					8																	59547876		2203	4294	6497	SO:0001583	missense	8439			X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.284G>C	8.37:g.59547876C>G	ENSP00000038176:p.Arg95Thr		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R126T	ENST00000038176.3	37	c.377	CCDS6173.1	8	.	.	.	.	.	.	.	.	.	.	C	8.280	0.815412	0.16607	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.53640	0.62;0.61	5.61	2.76	0.32466	.	0.338100	0.38217	N	0.001777	T	0.27419	0.0673	N	0.25647	0.755	0.23962	N	0.996336	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.13872	-1.0493	9	.	.	.	.	3.6671	0.08260	0.1694:0.5194:0.0:0.3111	.	126;95;95	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	T	95;126	ENSP00000038176:R95T;ENSP00000411012:R126T	.	R	-	2	0	NSMAF	59710430	0.307000	0.24500	0.705000	0.30386	0.987000	0.75469	-0.045000	0.12003	0.279000	0.22186	0.585000	0.79938	AGA	NSMAF	-	NULL		0.294	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSMAF	HGNC	protein_coding	OTTHUMT00000378384.1	C	NM_003580		59547876	-1	no_errors	ENST00000427130	ensembl	human	known	70_37	missense	SNP	0.935	G
NSUN3	63899	genome.wustl.edu	37	3	93813015	93813015	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:93813015G>C	ENST00000314622.4	+	4	709	c.498G>C	c.(496-498)ctG>ctC	p.L166L		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	166							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						ATGATAGTCTGAGATTGAGGT	0.338																																																	0													80.0	76.0	77.0					3																	93813015		2203	4300	6503	SO:0001819	synonymous_variant	63899			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.498G>C	3.37:g.93813015G>C			Q6PG41|Q8IXG9|Q9H6M2	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L166	ENST00000314622.4	37	c.498	CCDS2927.1	3																																																																																			NSUN3	-	pfam_Fmu/NOL1/Nop2p		0.338	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN3	HGNC	protein_coding	OTTHUMT00000352934.1	G	NM_022072		93813015	+1	no_errors	ENST00000314622	ensembl	human	known	70_37	silent	SNP	1.000	C
NSUN4	387338	genome.wustl.edu	37	1	46826421	46826421	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:46826421G>A	ENST00000474844.1	+	5	1449	c.799G>A	c.(799-801)Gag>Aag	p.E267K	NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.E218K|NSUN4_ENST00000536062.1_Missense_Mutation_p.E218K	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	267					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTCCCTTCATGAGGAGGAGAA	0.473																																																	0													137.0	125.0	129.0					1																	46826421		2203	4300	6503	SO:0001583	missense	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.799G>A	1.37:g.46826421G>A	ENSP00000419740:p.Glu267Lys		A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.E267K	ENST00000474844.1	37	c.799	CCDS534.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866669	0.91511	.	.	ENSG00000117481	ENST00000474844;ENST00000536062;ENST00000537428	T;T;T	0.20463	2.07;2.07;2.07	5.46	4.53	0.55603	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.046521	0.85682	D	0.000000	T	0.25827	0.0629	L	0.37850	1.14	0.58432	D	0.999991	P;P	0.50943	0.94;0.749	P;P	0.50791	0.65;0.475	T	0.01405	-1.1363	10	0.33141	T	0.24	-16.744	14.6179	0.68562	0.0:0.1452:0.8548:0.0	.	134;267	B3KUM0;Q96CB9	.;NSUN4_HUMAN	K	267;218;218	ENSP00000419740:E267K;ENSP00000438912:E218K;ENSP00000437758:E218K	ENSP00000419740:E267K	E	+	1	0	NSUN4	46599008	1.000000	0.71417	0.990000	0.47175	0.880000	0.50808	7.764000	0.85297	1.500000	0.48636	0.655000	0.94253	GAG	NSUN4	-	pfam_Fmu/NOL1/Nop2p		0.473	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	G	NM_199044		46826421	+1	no_errors	ENST00000474844	ensembl	human	known	70_37	missense	SNP	0.997	A
NUP205	23165	genome.wustl.edu	37	7	135282130	135282130	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:135282130G>A	ENST00000285968.6	+	14	2054	c.2028G>A	c.(2026-2028)gtG>gtA	p.V676V	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	676					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGCAGACCGTGAGGATTCCAA	0.338																																																	0													142.0	138.0	140.0					7																	135282130		2203	4300	6503	SO:0001819	synonymous_variant	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.2028G>A	7.37:g.135282130G>A			A6H8X3|Q86YC1	Silent	SNP	pfam_DUF3414	p.V676	ENST00000285968.6	37	c.2028	CCDS34759.1	7																																																																																			NUP205	-	pfam_DUF3414		0.338	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP205	HGNC	protein_coding	OTTHUMT00000340358.1	G			135282130	+1	no_errors	ENST00000285968	ensembl	human	known	70_37	silent	SNP	0.835	A
OBSCN	84033	genome.wustl.edu	37	1	228553871	228553871	+	Missense_Mutation	SNP	C	C	T	rs371696980		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:228553871C>T	ENST00000422127.1	+	83	19204	c.19160C>T	c.(19159-19161)tCg>tTg	p.S6387L	OBSCN_ENST00000366707.4_Missense_Mutation_p.S4021L|OBSCN_ENST00000570156.2_Missense_Mutation_p.S7344L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6387	Ig-like 54.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACAGCCCTCGGTGACCTGG	0.647																																																	0								C	LEU/SER	0,4122		0,0,2061	63.0	68.0	66.0		19160	-1.2	0.0	1		66	1,8361		0,1,4180	no	missense	OBSCN	NM_001098623.1	145	0,1,6241	TT,TC,CC		0.012,0.0,0.0080	benign	6387/7969	228553871	1,12483	2061	4181	6242	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19160C>T	1.37:g.228553871C>T	ENSP00000409493:p.Ser6387Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S6387L	ENST00000422127.1	37	c.19160	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766448	0.31228	0.0	1.2E-4	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.69435	-0.4;-0.4	5.41	-1.2	0.09554	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47801	0.1465	N	0.20530	0.585	0.09310	N	0.999998	B	0.17667	0.023	B	0.08055	0.003	T	0.29852	-0.9998	9	0.36615	T	0.2	.	10.5299	0.44971	0.0:0.5131:0.0:0.4869	.	6387	Q5VST9	OBSCN_HUMAN	L	6387;4021	ENSP00000409493:S6387L;ENSP00000355668:S4021L	ENSP00000355668:S4021L	S	+	2	0	OBSCN	226620494	0.000000	0.05858	0.047000	0.18901	0.137000	0.21094	-0.292000	0.08332	-0.215000	0.10063	0.313000	0.20887	TCG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228553871	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.003	T
OR2AP1	121129	genome.wustl.edu	37	12	55968825	55968825	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:55968825G>A	ENST00000321688.1	+	1	627	c.627G>A	c.(625-627)ctG>ctA	p.L209L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001258285.1	NP_001245214.1	Q8NGE2	O2AP1_HUMAN	olfactory receptor, family 2, subfamily AP, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)|ovary(1)	3						TGGTCACTCTGGTGCTAGTGA	0.463																																																	0																																										SO:0001819	synonymous_variant	121129			BK004260	CCDS58241.1	12q13.2	2012-08-09	2004-12-10	2004-03-10	ENSG00000179615	ENSG00000179615		"""GPCR / Class A : Olfactory receptors"""	15335	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AP, member 1 pseudogene"""	OR2AP1P			Standard	NM_001258285		Approved		uc031qhr.1	Q8NGE2	OTTHUMG00000169960	ENST00000321688.1:c.627G>A	12.37:g.55968825G>A				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L209	ENST00000321688.1	37	c.627	CCDS58241.1	12																																																																																			OR2AP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR2AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AP1	HGNC	protein_coding	OTTHUMT00000406679.1	G			55968825	+1	no_errors	ENST00000321688	ensembl	human	known	70_37	silent	SNP	0.000	A
OR2T34	127068	genome.wustl.edu	37	1	248737384	248737384	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:248737384G>A	ENST00000328782.2	-	1	696	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGCAGGATGAGGGTGTATG	0.562																																																	0													133.0	151.0	145.0					1																	248737384		2174	4300	6474	SO:0001819	synonymous_variant	127068			BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.675C>T	1.37:g.248737384G>A			B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L225	ENST00000328782.2	37	c.675	CCDS31120.1	1																																																																																			OR2T34	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T34	HGNC	protein_coding	OTTHUMT00000097138.1	G	NM_001001821		248737384	-1	no_errors	ENST00000328782	ensembl	human	known	70_37	silent	SNP	0.000	A
OR4F4	26682	genome.wustl.edu	37	15	102462417	102462417	+	Silent	SNP	C	C	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:102462417C>A	ENST00000326183.3	-	1	881	c.846G>T	c.(844-846)ctG>ctT	p.L282L		NM_001004195.2	NP_001004195.2	Q96R69	OR4F4_HUMAN	olfactory receptor, family 4, subfamily F, member 4	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			ovary(1)	1	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTTTGTTCCTCAGTGTGTATA	0.368																																																	0													151.0	226.0	201.0					15																	102462417		2157	4297	6454	SO:0001819	synonymous_variant	26682				CCDS32343.1	15q26.3	2012-08-09			ENSG00000177693	ENSG00000177693		"""GPCR / Class A : Olfactory receptors"""	8301	protein-coding gene	gene with protein product							Standard	NM_001004195		Approved	OR4F18	uc002cdf.1	Q96R69		ENST00000326183.3:c.846G>T	15.37:g.102462417C>A			B2RNI5|Q6IFN9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L282	ENST00000326183.3	37	c.846	CCDS32343.1	15																																																																																			OR4F4	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.368	OR4F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F4	HGNC	protein_coding	OTTHUMT00000417599.1	C	NM_001004195		102462417	-1	no_errors	ENST00000326183	ensembl	human	known	70_37	silent	SNP	0.984	A
OR5L1	219437	genome.wustl.edu	37	11	55579854	55579854	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:55579854G>C	ENST00000333973.2	+	1	1001	c.912G>C	c.(910-912)gtG>gtC	p.V304V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V304V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCAGAAAAGTGATGGGCTCCA	0.468																																																	1	Substitution - coding silent(1)	lung(1)											33.0	35.0	35.0					11																	55579854		2200	4296	6496	SO:0001819	synonymous_variant	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.912G>C	11.37:g.55579854G>C			B2RNK6|Q6IFD0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V304	ENST00000333973.2	37	c.912	CCDS31509.1	11																																																																																			OR5L1	-	NULL		0.468	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	HGNC	protein_coding	OTTHUMT00000391514.1	G	NM_001004738		55579854	+1	no_errors	ENST00000333973	ensembl	human	known	70_37	silent	SNP	0.000	C
PAK6	56924	genome.wustl.edu	37	15	40565662	40565662	+	Missense_Mutation	SNP	C	C	T	rs544478594	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:40565662C>T	ENST00000542403.2	+	6	1717	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	PAK6_ENST00000260404.4_Missense_Mutation_p.L536F|PAK6_ENST00000453867.1_Missense_Mutation_p.L536F|PAK6_ENST00000560346.1_Missense_Mutation_p.L536F|PAK6_ENST00000441369.1_Missense_Mutation_p.L536F|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000455577.2_Missense_Mutation_p.L536F	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	536	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CCTGCTGACCCTCGATGGCAG	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		20453	0.0		0.0	False		,,,				2504	0.002																0													100.0	83.0	89.0					15																	40565662		2203	4300	6503	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1606C>T	15.37:g.40565662C>T	ENSP00000439597:p.Leu536Phe		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.L536F	ENST00000542403.2	37	c.1606	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628424	0.28978	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.09	4.16	0.48862	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	N	0.16368	0.405	0.19775	N	0.999956	D;D	0.76494	0.998;0.999	D;D	0.74023	0.961;0.982	T	0.56944	-0.7895	10	0.36615	T	0.2	.	12.6346	0.56677	0.3013:0.6987:0.0:0.0	.	536;536	Q9NQU5;G5E9R2	PAK6_HUMAN;.	F	536	ENSP00000406873:L536F;ENSP00000401153:L536F;ENSP00000409465:L536F;ENSP00000260404:L536F;ENSP00000439597:L536F	ENSP00000260404:L536F	L	+	1	0	PAK6	38352954	0.676000	0.27567	0.431000	0.26735	0.366000	0.29705	1.468000	0.35332	1.100000	0.41517	0.563000	0.77884	CTC	PAK6	-	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		0.602	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	C			40565662	+1	no_errors	ENST00000260404	ensembl	human	known	70_37	missense	SNP	0.015	T
PAPOLA	10914	genome.wustl.edu	37	14	97009200	97009200	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:97009200C>G	ENST00000216277.8	+	14	1479	c.1259C>G	c.(1258-1260)tCa>tGa	p.S420*	PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.S420*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	420					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)	p.S420*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AATCCCCAGTCATTTCCAGCA	0.393																																					NSCLC(19;254 734 11908 35501 39234)												1	Substitution - Nonsense(1)	endometrium(1)											119.0	128.0	125.0					14																	97009200		2203	4300	6503	SO:0001587	stop_gained	10914			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1259C>G	14.37:g.97009200C>G	ENSP00000216277:p.Ser420*		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Nonsense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.S420*	ENST00000216277.8	37	c.1259	CCDS9946.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.423308	0.98275	.	.	ENSG00000090060	ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.2242	0.93812	0.0:1.0:0.0:0.0	.	.	.	.	X	420;436;420;170	.	ENSP00000216277:S420X	S	+	2	0	PAPOLA	96078953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.553000	0.86117	0.591000	0.81541	TCA	PAPOLA	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase		0.393	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	C			97009200	+1	no_errors	ENST00000216277	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PAX3	5077	genome.wustl.edu	37	2	223160330	223160330	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:223160330C>G	ENST00000350526.4	-	3	504	c.368G>C	c.(367-369)aGa>aCa	p.R123T	PAX3_ENST00000392069.2_Missense_Mutation_p.R123T|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000336840.6_Missense_Mutation_p.R123T|PAX3_ENST00000409828.3_Missense_Mutation_p.R123T|PAX3_ENST00000258387.5_Missense_Mutation_p.R123T|PAX3_ENST00000344493.4_Missense_Mutation_p.R123T|PAX3_ENST00000392070.2_Missense_Mutation_p.R123T|PAX3_ENST00000409551.3_Missense_Mutation_p.R122T	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	123	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTTCTCTCTTTTGTATTC	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													138.0	128.0	132.0					2																	223160330		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.368G>C	2.37:g.223160330C>G	ENSP00000343052:p.Arg123Thr		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.R123T	ENST00000350526.4	37	c.368	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	18.12	3.554145	0.65425	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95	5.71	5.71	0.89125	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.085531	0.85682	D	0.000000	D	0.99378	0.9781	M	0.90977	3.165	0.50313	D	0.999869	P;D;P;P;P;B;P	0.54047	0.634;0.964;0.946;0.52;0.741;0.288;0.607	B;P;B;B;B;B;B	0.48304	0.437;0.573;0.324;0.107;0.093;0.071;0.065	D	0.99768	1.1023	10	0.87932	D	0	.	19.474	0.94979	0.0:1.0:0.0:0.0	.	123;123;123;122;123;123;123	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	T	123;123;123;123;123;122;123;123	ENSP00000375921:R123T;ENSP00000342092:R123T;ENSP00000343052:R123T;ENSP00000375922:R123T;ENSP00000338767:R123T;ENSP00000386750:R122T;ENSP00000386817:R123T;ENSP00000258387:R123T	ENSP00000258387:R123T	R	-	2	0	PAX3	222868574	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.795000	0.62489	2.694000	0.91930	0.655000	0.94253	AGA	PAX3	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	C			223160330	-1	no_errors	ENST00000392069	ensembl	human	known	70_37	missense	SNP	1.000	G
PAX3	5077	genome.wustl.edu	37	2	223160343	223160343	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:223160343C>T	ENST00000350526.4	-	3	491	c.355G>A	c.(355-357)Gag>Aag	p.E119K	PAX3_ENST00000392069.2_Missense_Mutation_p.E119K|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000336840.6_Missense_Mutation_p.E119K|PAX3_ENST00000409828.3_Missense_Mutation_p.E119K|PAX3_ENST00000258387.5_Missense_Mutation_p.E119K|PAX3_ENST00000344493.4_Missense_Mutation_p.E119K|PAX3_ENST00000392070.2_Missense_Mutation_p.E119K|PAX3_ENST00000409551.3_Missense_Mutation_p.E118K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	119	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTATTCCTCAATTTTCTTC	0.572			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													133.0	123.0	126.0					2																	223160343		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.355G>A	2.37:g.223160343C>T	ENSP00000343052:p.Glu119Lys		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.E119K	ENST00000350526.4	37	c.355	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942859	0.73672	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	5.71	5.71	0.89125	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.72118	2.19	0.58432	D	0.999999	B;B;B;B;B;B;B	0.31318	0.033;0.314;0.319;0.019;0.011;0.029;0.01	B;B;B;B;B;B;B	0.31245	0.085;0.126;0.03;0.017;0.003;0.025;0.004	D	0.98485	1.0607	10	0.49607	T	0.09	.	19.474	0.94979	0.0:1.0:0.0:0.0	.	119;119;119;118;119;119;119	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	K	119;119;119;119;119;118;119;119	ENSP00000375921:E119K;ENSP00000342092:E119K;ENSP00000343052:E119K;ENSP00000375922:E119K;ENSP00000338767:E119K;ENSP00000386750:E118K;ENSP00000386817:E119K;ENSP00000258387:E119K	ENSP00000258387:E119K	E	-	1	0	PAX3	222868587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.817000	0.69229	2.694000	0.91930	0.655000	0.94253	GAG	PAX3	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom		0.572	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	C			223160343	-1	no_errors	ENST00000392069	ensembl	human	known	70_37	missense	SNP	1.000	T
PBRM1	55193	genome.wustl.edu	37	3	52668757	52668757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:52668757G>A	ENST00000296302.7	-	11	1163	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q356*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q388*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q388*			Q86U86	PB1_HUMAN	polybromo 1	388					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)	p.Q388*(3)|p.Q356*(1)		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)		TCATAAAGCTGATAAAAAGGA	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Nonsense(4)	kidney(4)											110.0	110.0	110.0					3																	52668757		2203	4300	6503	SO:0001587	stop_gained	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.1162C>T	3.37:g.52668757G>A	ENSP00000296302:p.Gln388*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	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.Q388*	ENST00000296302.7	37	c.1162		3	.	.	.	.	.	.	.	.	.	.	G	38	6.767614	0.97825	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-31.5616	19.7907	0.96456	0.0:0.0:1.0:0.0	.	.	.	.	X	356;388;388;388;388;388;388;388;388;332	.	ENSP00000296302:Q388X	Q	-	1	0	PBRM1	52643797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.686000	0.91538	0.491000	0.48974	CAG	PBRM1	-	superfamily_Bromodomain,smart_Bromodomain		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	G	NM_018165		52668757	-1	no_errors	ENST00000296302	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PBRM1	55193	genome.wustl.edu	37	3	52668791	52668791	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:52668791G>C	ENST00000296302.7	-	11	1129	c.1128C>G	c.(1126-1128)atC>atG	p.I376M	PBRM1_ENST00000409057.1_Missense_Mutation_p.I376M|PBRM1_ENST00000356770.4_Missense_Mutation_p.I344M|PBRM1_ENST00000337303.4_Missense_Mutation_p.I376M|PBRM1_ENST00000409114.3_Missense_Mutation_p.I376M|PBRM1_ENST00000394830.3_Missense_Mutation_p.I376M|PBRM1_ENST00000409767.1_Missense_Mutation_p.I376M|PBRM1_ENST00000410007.1_Missense_Mutation_p.I376M			Q86U86	PB1_HUMAN	polybromo 1	376					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)		TAAAGGAAGTGATGCTTTCTG	0.388			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													94.0	92.0	93.0					3																	52668791		2203	4300	6503	SO:0001583	missense	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.1128C>G	3.37:g.52668791G>C	ENSP00000296302:p.Ile376Met		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	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.I376M	ENST00000296302.7	37	c.1128		3	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972619	0.53614	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.34;1.39;1.34;1.35;1.34;1.81;1.34;1.35;1.35	5.78	1.09	0.20402	Bromodomain (1);	0.098880	0.64402	D	0.000002	T	0.20129	0.0484	N	0.24115	0.695	0.39543	D	0.968845	B;B;B;B;B;B;B;B;B	0.29988	0.138;0.053;0.264;0.138;0.047;0.053;0.085;0.053;0.112	B;B;B;B;B;B;B;B;B	0.17722	0.013;0.013;0.019;0.013;0.013;0.019;0.01;0.019;0.019	T	0.06607	-1.0817	10	0.33141	T	0.24	-16.0238	10.4213	0.44352	0.8368:0.0:0.1632:0.0	.	376;376;376;376;376;376;376;344;376	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	M	344;376;376;376;376;376;376;376;376;320	ENSP00000349213:I344M;ENSP00000378307:I376M;ENSP00000296302:I376M;ENSP00000338302:I376M;ENSP00000386593:I376M;ENSP00000386529:I376M;ENSP00000386643:I376M;ENSP00000386601:I376M;ENSP00000387775:I376M;ENSP00000397662:I320M	ENSP00000296302:I376M	I	-	3	3	PBRM1	52643831	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	0.931000	0.28871	-0.020000	0.14032	-0.258000	0.10820	ATC	PBRM1	-	superfamily_Bromodomain		0.388	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	G	NM_018165		52668791	-1	no_errors	ENST00000296302	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDHB11	56125	genome.wustl.edu	37	5	140580506	140580506	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:140580506G>A	ENST00000354757.3	+	1	1159	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	PCDHB11_ENST00000536699.1_Missense_Mutation_p.E22K	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	387	Cadherin 4. {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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCATTCCGGAAGACCTCCC	0.448																																																	0													124.0	123.0	123.0					5																	140580506		2203	4300	6503	SO:0001583	missense	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1159G>A	5.37:g.140580506G>A	ENSP00000346802:p.Glu387Lys		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E387K	ENST00000354757.3	37	c.1159	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685234	0.68157	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.60920	0.15;4.66	2.52	2.52	0.30459	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58424	0.2121	L	0.43646	1.37	0.09310	N	1	B	0.32128	0.357	P	0.47044	0.535	T	0.56220	-0.8015	9	0.66056	D	0.02	.	6.4026	0.21646	0.2174:0.0:0.7826:0.0	.	387	Q9Y5F2	PCDBB_HUMAN	K	22;387	ENSP00000440344:E22K;ENSP00000346802:E387K	ENSP00000346802:E387K	E	+	1	0	PCDHB11	140560690	0.000000	0.05858	0.002000	0.10522	0.894000	0.52154	-0.071000	0.11505	1.417000	0.47077	0.306000	0.20318	GAA	PCDHB11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.448	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	G	NM_018931		140580506	+1	no_errors	ENST00000354757	ensembl	human	known	70_37	missense	SNP	0.000	A
PCDHB14	56122	genome.wustl.edu	37	5	140605043	140605043	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:140605043G>A	ENST00000239449.4	+	1	1966	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHB14_ENST00000515856.2_Missense_Mutation_p.A503T	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.721																																					Ovarian(141;50 1831 27899 33809 37648)												0													19.0	23.0	22.0					5																	140605043		1918	3882	5800	SO:0001583	missense	56122			AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1966G>A	5.37:g.140605043G>A	ENSP00000239449:p.Ala656Thr		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A656T	ENST00000239449.4	37	c.1966	CCDS4256.1	5	.	.	.	.	.	.	.	.	.	.	N	8.928	0.962820	0.18583	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.50548	0.74;0.74	3.83	2.96	0.34315	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.40694	0.1127	L	0.47190	1.495	0.19575	N	0.999967	B	0.29590	0.25	B	0.24848	0.056	T	0.32161	-0.9917	9	0.62326	D	0.03	.	11.2098	0.48790	0.0934:0.0:0.9066:0.0	.	656	Q9Y5E9	PCDBE_HUMAN	T	503;656	ENSP00000444518:A503T;ENSP00000239449:A656T	ENSP00000239449:A656T	A	+	1	0	PCDHB14	140585227	0.005000	0.15991	0.999000	0.59377	0.122000	0.20287	1.408000	0.34668	0.722000	0.32252	-0.199000	0.12753	GCC	PCDHB14	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.721	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB14	HGNC	protein_coding	OTTHUMT00000251814.2	G	NM_018934		140605043	+1	no_errors	ENST00000239449	ensembl	human	known	70_37	missense	SNP	0.609	A
PDE10A	10846	genome.wustl.edu	37	6	165848726	165848726	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:165848726C>T	ENST00000366882.1	-	7	660	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PDE10A_ENST00000539869.2_Splice_Site_p.G179E|PDE10A_ENST00000354448.4_Splice_Site_p.G169E			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	169	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GCCACTTACTCCAAGGATGTC	0.408																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													135.0	131.0	133.0					6																	165848726		2203	4300	6503	SO:0001630	splice_region_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.507+1G>A	6.37:g.165848726C>T			Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.G179E	ENST00000366882.1	37	c.536		6	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645781	0.47258	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.64618	-0.11;-0.11	5.49	5.49	0.81192	GAF (2);	0.000000	0.85682	D	0.000000	T	0.63212	0.2492	L	0.49350	1.555	0.80722	D	1	D;P	0.89917	1.0;0.728	D;B	0.97110	1.0;0.306	T	0.59473	-0.7448	10	0.02654	T	1	.	19.7401	0.96223	0.0:1.0:0.0:0.0	.	179;169	Q9ULW9;Q9Y233	.;PDE10_HUMAN	E	169;197;179;169;168	ENSP00000355847:G169E;ENSP00000346435:G169E	ENSP00000341187:G179E	G	-	2	0	PDE10A	165768716	1.000000	0.71417	0.985000	0.45067	0.538000	0.34931	7.471000	0.80985	2.727000	0.93392	0.591000	0.81541	GGA	PDE10A	-	pfam_GAF,smart_GAF		0.408	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	C		Missense_Mutation	165848726	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	missense	SNP	1.000	T
PDE4DIP	9659	genome.wustl.edu	37	1	144915469	144915469	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:144915469C>T	ENST00000369354.3	-	14	2145	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	PDE4DIP_ENST00000313382.9_Silent_p.V718V|PDE4DIP_ENST00000369349.3_Silent_p.V652V|PDE4DIP_ENST00000313431.9_Silent_p.V815V|PDE4DIP_ENST00000369356.4_Silent_p.V652V|PDE4DIP_ENST00000369351.3_Silent_p.V652V|PDE4DIP_ENST00000479408.2_Silent_p.V439V|PDE4DIP_ENST00000529945.1_Silent_p.V815V|PDE4DIP_ENST00000530740.1_Silent_p.V789V|PDE4DIP_ENST00000369359.4_Silent_p.V789V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	652					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCCTGGTGCTCACAGACTGAA	0.443			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													288.0	263.0	271.0					1																	144915469		2203	4296	6499	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1956G>A	1.37:g.144915469C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.V652	ENST00000369354.3	37	c.1956	CCDS30824.1	1																																																																																			PDE4DIP	-	superfamily_ARM-type_fold		0.443	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144915469	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	0.996	T
PDZK1	5174	genome.wustl.edu	37	1	145763595	145763595	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:145763595C>T	ENST00000344770.2	+	9	1605	c.1532C>T	c.(1531-1533)tCt>tTt	p.S511F	PDZK1_ENST00000465595.1_3'UTR|PDZK1_ENST00000417171.1_Missense_Mutation_p.S511F|PDZK1_ENST00000451928.2_Missense_Mutation_p.S400F	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	511					carnitine transport (GO:0015879)|cell proliferation (GO:0008283)|drug transport (GO:0015893)|establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of ion transmembrane transport (GO:0034767)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of anion transport (GO:0044070)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|transporter activity (GO:0005215)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TCACATTCTTCTTCCAATTCT	0.353																																																	0													17.0	17.0	17.0					1																	145763595		2190	4269	6459	SO:0001583	missense	5174			AF012281	CCDS72859.1, CCDS72860.1	1q21	2009-08-21			ENSG00000174827	ENSG00000174827			8821	protein-coding gene	gene with protein product		603831				9461128	Standard	NM_002614		Approved	PDZD1, NHERF3	uc001eoo.2	Q5T2W1	OTTHUMG00000013735	ENST00000344770.2:c.1532C>T	1.37:g.145763595C>T	ENSP00000342143:p.Ser511Phe		B4DPB9|E7EU02|O60450|Q5T5P6|Q9BQ41	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S511F	ENST00000344770.2	37	c.1532	CCDS924.1	1	.	.	.	.	.	.	.	.	.	.	.	17.70	3.453391	0.63290	.	.	ENSG00000174827	ENST00000417171;ENST00000451928;ENST00000344770	T;T;T	0.33865	1.42;1.39;1.42	4.37	4.37	0.52481	.	0.422683	0.24470	N	0.038260	T	0.45994	0.1370	L	0.58101	1.795	0.48185	D	0.999605	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.46219	-0.9207	10	0.66056	D	0.02	-15.0281	12.2666	0.54681	0.0:1.0:0.0:0.0	.	400;511	E7EU02;Q5T2W1	.;NHRF3_HUMAN	F	511;400;511	ENSP00000394485:S511F;ENSP00000403422:S400F;ENSP00000342143:S511F	ENSP00000342143:S511F	S	+	2	0	PDZK1	144474952	1.000000	0.71417	0.836000	0.33094	0.994000	0.84299	3.324000	0.52022	2.282000	0.76494	0.467000	0.42956	TCT	PDZK1	-	NULL		0.353	PDZK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZK1	HGNC	protein_coding	OTTHUMT00000038502.2	C	NM_002614		145763595	+1	no_errors	ENST00000344770	ensembl	human	known	70_37	missense	SNP	0.948	T
PEX6	5190	genome.wustl.edu	37	6	42936212	42936212	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:42936212C>T	ENST00000304611.8	-	7	1573	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	PEX6_ENST00000244546.4_Missense_Mutation_p.E502K	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	502					ATP catabolic process (GO:0006200)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix, translocation (GO:0016561)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CCACTACTTTCTGCACAGAGG	0.622																																																	0													18.0	18.0	18.0					6																	42936212		2194	4286	6480	SO:0001583	missense	5190			U56602	CCDS4877.1	6p22-p11	2010-04-21			ENSG00000124587	ENSG00000124587		"""ATPases / AAA-type"""	8859	protein-coding gene	gene with protein product		601498				8670792	Standard	NM_000287		Approved	PXAAA1, PAF-2	uc003otf.3	Q13608	OTTHUMG00000014713	ENST00000304611.8:c.1504G>A	6.37:g.42936212C>T	ENSP00000303511:p.Glu502Lys		Q5T8W1|Q8WYQ0|Q8WYQ1|Q8WYQ2|Q99476	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E502K	ENST00000304611.8	37	c.1504	CCDS4877.1	6	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594940	0.46318	.	.	ENSG00000124587	ENST00000304611;ENST00000244546	D;D	0.91792	-2.91;-2.91	5.84	5.84	0.93424	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.184267	0.56097	D	0.000024	T	0.53222	0.1783	N	0.00205	-1.85	0.22112	N	0.999353	B	0.22746	0.074	B	0.23852	0.049	T	0.50145	-0.8862	10	0.02654	T	1	-13.6517	17.0547	0.86530	0.0:1.0:0.0:0.0	.	502	Q13608	PEX6_HUMAN	K	502	ENSP00000303511:E502K;ENSP00000244546:E502K	ENSP00000244546:E502K	E	-	1	0	PEX6	43044190	1.000000	0.71417	1.000000	0.80357	0.168000	0.22595	5.533000	0.67160	2.779000	0.95612	0.655000	0.94253	GAA	PEX6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase		0.622	PEX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX6	HGNC	protein_coding	OTTHUMT00000040569.1	C	NM_000287		42936212	-1	no_errors	ENST00000304611	ensembl	human	known	70_37	missense	SNP	1.000	T
PI4KA	5297	genome.wustl.edu	37	22	21167759	21167759	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:21167759C>G	ENST00000572273.1	-	8	948	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	PI4KA_ENST00000255882.6_Missense_Mutation_p.E298Q			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	240					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AAGTAGTACTCAGGCTCTAGG	0.507																																					GBM(136;1332 1831 3115 23601 50806)												0													83.0	82.0	82.0					22																	21167759		2203	4300	6503	SO:0001583	missense	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.718G>C	22.37:g.21167759C>G	ENSP00000458238:p.Glu240Gln		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E298Q	ENST00000572273.1	37	c.892		22	.	.	.	.	.	.	.	.	.	.	C	10.47	1.358730	0.24598	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.05	2.8	0.32819	.	0.256923	0.42548	D	0.000682	T	0.28995	0.0720	N	0.08118	0	0.80722	D	1	B;B	0.19817	0.039;0.026	B;B	0.22880	0.032;0.042	T	0.05989	-1.0852	9	0.16420	T	0.52	-8.3755	10.9422	0.47281	0.0:0.796:0.1302:0.0738	.	298;240	D3DX33;P42356	.;PI4KA_HUMAN	Q	240	.	ENSP00000255882:E240Q	E	-	1	0	PI4KA	19497759	0.998000	0.40836	0.631000	0.29282	0.669000	0.39330	3.910000	0.56371	1.235000	0.43724	0.561000	0.74099	GAG	PI4KA	-	superfamily_ARM-type_fold		0.507	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		C	NM_058004		21167759	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	missense	SNP	0.993	G
PIGU	128869	genome.wustl.edu	37	20	33233093	33233093	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:33233093C>T	ENST00000452740.2	-	3	240	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	PIGU_ENST00000374820.2_Intron			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	81					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AACACCAATTCAGCATAGTCA	0.239																																																	0													30.0	31.0	31.0					20																	33233093		2200	4290	6490	SO:0001583	missense	128869			AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000452740.2:c.241G>A	20.37:g.33233093C>T	ENSP00000416593:p.Glu81Lys		Q7Z489|Q8N2F2	Missense_Mutation	SNP	pfam_PIG-U	p.E81K	ENST00000452740.2	37	c.241		20	.	.	.	.	.	.	.	.	.	.	C	17.60	3.430106	0.62844	.	.	ENSG00000101464	ENST00000217446;ENST00000452740	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.66607	0.2806	L	0.52759	1.655	0.80722	D	1	D;D	0.69078	0.997;0.986	D;P	0.79108	0.992;0.849	T	0.60500	-0.7251	9	0.02654	T	1	.	16.4116	0.83717	0.0:1.0:0.0:0.0	.	81;81	E7EVL4;Q9H490	.;PIGU_HUMAN	K	81	.	ENSP00000217446:E81K	E	-	1	0	PIGU	32696754	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.692000	0.68256	2.615000	0.88500	0.655000	0.94253	GAA	PIGU	-	NULL		0.239	PIGU-202	KNOWN	basic	protein_coding	PIGU	HGNC	protein_coding		C	NM_080476		33233093	-1	no_errors	ENST00000217446	ensembl	human	known	70_37	missense	SNP	1.000	T
PKD1	5310	genome.wustl.edu	37	16	2143682	2143682	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:2143682C>G	ENST00000262304.4	-	37	11087	c.10879G>C	c.(10879-10881)Gat>Cat	p.D3627H	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.D3626H|RP11-304L19.3_ENST00000565937.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3627					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGTGTCATCTTCATCCGGG	0.652																																																	0													28.0	29.0	29.0					16																	2143682		2190	4293	6483	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.10879G>C	16.37:g.2143682C>G	ENSP00000262304:p.Asp3627His		Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.D3627H	ENST00000262304.4	37	c.10879	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515628	0.44763	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.39592	1.07;1.07	4.87	3.92	0.45320	.	0.144783	0.47852	D	0.000210	T	0.62011	0.2393	M	0.69823	2.125	0.35133	D	0.768118	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.969	T	0.74054	-0.3788	10	0.66056	D	0.02	.	13.2964	0.60298	0.0:0.9232:0.0:0.0768	.	3626;3627	P98161-3;P98161	.;PKD1_HUMAN	H	3627;3626;2961	ENSP00000262304:D3627H;ENSP00000399501:D3626H	ENSP00000262304:D3627H	D	-	1	0	PKD1	2083683	1.000000	0.71417	0.005000	0.12908	0.103000	0.19146	3.483000	0.53194	1.051000	0.40369	0.561000	0.74099	GAT	PKD1	-	NULL		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2143682	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.983	G
PLEKHG1	57480	genome.wustl.edu	37	6	151055052	151055052	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:151055052G>A	ENST00000358517.2	+	2	446	c.235G>A	c.(235-237)Gcg>Acg	p.A79T	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A79T			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	79							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAACAGAACGCGGATGAGGG	0.627																																																	0													39.0	44.0	42.0					6																	151055052		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.235G>A	6.37:g.151055052G>A	ENSP00000351318:p.Ala79Thr		Q5T1F2	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A79T	ENST00000358517.2	37	c.235	CCDS34552.1	6	.	.	.	.	.	.	.	.	.	.	G	5.669	0.308025	0.10733	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.58506	0.33;0.33	5.51	-11.0	0.00169	.	2.271330	0.01430	N	0.014682	T	0.05227	0.0139	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.14008	-1.0488	9	.	.	.	.	0.9375	0.01348	0.2655:0.2354:0.2838:0.2152	.	79;79	Q5JYA6;Q9ULL1	.;PKHG1_HUMAN	T	79	ENSP00000356297:A79T;ENSP00000351318:A79T	.	A	+	1	0	PLEKHG1	151096745	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.075000	0.00616	-3.806000	0.00104	-2.915000	0.00090	GCG	PLEKHG1	-	NULL		0.627	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG1	HGNC	protein_coding	OTTHUMT00000042691.1	G			151055052	+1	no_errors	ENST00000358517	ensembl	human	known	70_37	missense	SNP	0.000	A
PLEKHG4B	153478	genome.wustl.edu	37	5	155490	155490	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:155490G>C	ENST00000283426.6	+	7	1122	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	358							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAACTGTGAAGAAGCCATCAT	0.458																																																	0													97.0	93.0	94.0					5																	155490		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1072G>C	5.37:g.155490G>C	ENSP00000283426:p.Glu358Gln			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E358Q	ENST00000283426.6	37	c.1072	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	.	0.014	-1.581313	0.00879	.	.	ENSG00000153404	ENST00000283426;ENST00000502646	T;T	0.30981	1.51;3.02	3.65	2.77	0.32553	.	.	.	.	.	T	0.19005	0.0456	L	0.31420	0.93	0.09310	N	1	P	0.42827	0.791	B	0.37650	0.255	T	0.08534	-1.0717	9	0.16896	T	0.51	.	8.6391	0.33966	0.0:0.2855:0.7145:0.0	.	358	Q96PX9	PKH4B_HUMAN	Q	358;272	ENSP00000283426:E358Q;ENSP00000422493:E272Q	ENSP00000283426:E358Q	E	+	1	0	PLEKHG4B	208490	0.977000	0.34250	0.001000	0.08648	0.002000	0.02628	1.951000	0.40333	0.495000	0.27882	0.467000	0.42956	GAA	PLEKHG4B	-	NULL		0.458	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	G	NM_052909		155490	+1	no_errors	ENST00000283426	ensembl	human	known	70_37	missense	SNP	0.082	C
PLK3	1263	genome.wustl.edu	37	1	45270294	45270294	+	Intron	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:45270294C>G	ENST00000372201.4	+	13	1744				PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GTGCAGGGCTCCCTCTGACCT	0.617																																																	0													98.0	105.0	103.0					1																	45270294		2203	4300	6503	SO:0001627	intron_variant	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1506-28C>G	1.37:g.45270294C>G			Q15767|Q5JR99|Q96CV1	RNA	SNP	-	NULL	ENST00000372201.4	37	NULL	CCDS515.1	1																																																																																			PLK3	-	-		0.617	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK3	HGNC	protein_coding	OTTHUMT00000023429.1	C	NM_004073		45270294	+1	no_errors	ENST00000465443	ensembl	human	known	70_37	rna	SNP	0.000	G
PLK4	10733	genome.wustl.edu	37	4	128814468	128814468	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:128814468C>T	ENST00000270861.5	+	11	2491	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	PLK4_ENST00000507249.1_Silent_p.F678F|PLK4_ENST00000514379.1_Silent_p.F698F|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Silent_p.F661F|PLK4_ENST00000513090.1_Silent_p.F707F	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	739					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						CAGAAGATTTCATTCAGGTGA	0.274																																					Colon(135;508 1718 19061 31832 42879)												0													60.0	65.0	63.0					4																	128814468		2202	4296	6498	SO:0001819	synonymous_variant	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2217C>T	4.37:g.128814468C>T			B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.F739	ENST00000270861.5	37	c.2217	CCDS3735.1	4																																																																																			PLK4	-	NULL		0.274	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	C			128814468	+1	no_errors	ENST00000270861	ensembl	human	known	70_37	silent	SNP	0.579	T
PLK4	10733	genome.wustl.edu	37	4	128814472	128814472	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:128814472C>T	ENST00000270861.5	+	11	2495	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	PLK4_ENST00000507249.1_Nonsense_Mutation_p.Q680*|PLK4_ENST00000514379.1_Nonsense_Mutation_p.Q700*|RNU6-583P_ENST00000516012.1_RNA|PLK4_ENST00000515069.1_Nonsense_Mutation_p.Q663*|PLK4_ENST00000513090.1_Nonsense_Mutation_p.Q709*	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	741					centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGATTTCATTCAGGTGATTGA	0.274																																					Colon(135;508 1718 19061 31832 42879)												0													63.0	68.0	66.0					4																	128814472		2202	4296	6498	SO:0001587	stop_gained	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.2221C>T	4.37:g.128814472C>T	ENSP00000270861:p.Gln741*		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.Q741*	ENST00000270861.5	37	c.2221	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.982180	0.98594	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	.	.	.	5.35	4.44	0.53790	.	0.571641	0.18726	N	0.132889	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	0.0085	14.7107	0.69229	0.2202:0.7798:0.0:0.0	.	.	.	.	X	741;663;709;680;700	.	ENSP00000270861:Q741X	Q	+	1	0	PLK4	129033922	1.000000	0.71417	0.874000	0.34290	0.944000	0.59088	1.945000	0.40273	2.780000	0.95670	0.655000	0.94253	CAG	PLK4	-	NULL		0.274	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	C			128814472	+1	no_errors	ENST00000270861	ensembl	human	known	70_37	nonsense	SNP	0.996	T
PRPF18	8559	genome.wustl.edu	37	10	13652056	13652056	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:13652056G>C	ENST00000378572.3	+	5	541	c.381G>C	c.(379-381)ttG>ttC	p.L127F		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	127					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GGAATGATTTGAAAGCAGCCT	0.393																																																	0													149.0	150.0	150.0					10																	13652056		2203	4300	6503	SO:0001583	missense	8559			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.381G>C	10.37:g.13652056G>C	ENSP00000367835:p.Leu127Phe		Q5T9P9|Q9BUI9	Missense_Mutation	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.L127F	ENST00000378572.3	37	c.381	CCDS7100.1	10	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.411334	0.01145	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	5.8	1.74	0.24563	Splicing factor motif (1);	0.000000	0.85682	D	0.000000	T	0.28333	0.0700	N	0.25332	0.735	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.18999	-1.0319	9	0.02654	T	1	-16.455	4.6722	0.12694	0.1262:0.2228:0.536:0.1149	.	127	Q99633	PRP18_HUMAN	F	127;121;112;121	.	ENSP00000367824:L112F	L	+	3	2	PRPF18	13692062	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	1.931000	0.40134	0.325000	0.23359	-0.181000	0.13052	TTG	PRPF18	-	smart_SFM		0.393	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	G			13652056	+1	no_errors	ENST00000378572	ensembl	human	known	70_37	missense	SNP	0.998	C
PPP3CB	5532	genome.wustl.edu	37	10	75204553	75204553	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:75204553G>C	ENST00000360663.5	-	12	1407	c.1296C>G	c.(1294-1296)ctC>ctG	p.L432L	PPP3CB_ENST00000394829.2_Silent_p.L433L|PPP3CB_ENST00000544628.1_Silent_p.L60L|PPP3CB_ENST00000545874.1_Silent_p.L347L|PPP3CB_ENST00000394828.2_Silent_p.L433L|PPP3CB_ENST00000394822.2_Silent_p.L450L|PPP3CB_ENST00000342558.3_Silent_p.L432L			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	432					axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TCAGGCCCTTGAGTGTCAGCA	0.453																																																	0													164.0	115.0	132.0					10																	75204553		2203	4300	6503	SO:0001819	synonymous_variant	5532			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.1296C>G	10.37:g.75204553G>C			P16299|Q5F2F9|Q8N1F0|Q8N3W4	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L433	ENST00000360663.5	37	c.1299	CCDS7328.1	10																																																																																			PPP3CB	-	NULL		0.453	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	PPP3CB	HGNC	protein_coding	OTTHUMT00000048669.1	G	NM_021132		75204553	-1	no_errors	ENST00000394829	ensembl	human	known	70_37	silent	SNP	1.000	C
PNLIPRP1	5407	genome.wustl.edu	37	10	118357673	118357673	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:118357673G>C	ENST00000528052.1	+	8	880	c.809G>C	c.(808-810)tGg>tCg	p.W270S	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W270S|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W270S			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	270					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)	p.W270L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGGCATCTGGGCGGGTAAA	0.502																																																	1	Substitution - Missense(1)	lung(1)											64.0	57.0	59.0					10																	118357673		2203	4300	6503	SO:0001583	missense	5407			BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.809G>C	10.37:g.118357673G>C	ENSP00000433933:p.Trp270Ser		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase	p.W270S	ENST00000528052.1	37	c.809	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	G	16.83	3.229963	0.58777	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	D;D;D	0.90732	-2.72;-2.72;-2.72	5.19	5.19	0.71726	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.94149	0.8123	M	0.79343	2.45	0.80722	D	1	P	0.47106	0.89	P	0.60345	0.873	D	0.93725	0.7036	10	0.48119	T	0.1	-3.3081	13.4971	0.61432	0.0:0.0:0.843:0.157	.	270	P54315	LIPR1_HUMAN	S	270	ENSP00000351695:W270S;ENSP00000433933:W270S;ENSP00000434159:W270S	ENSP00000351695:W270S	W	+	2	0	PNLIPRP1	118347663	1.000000	0.71417	0.994000	0.49952	0.824000	0.46624	6.515000	0.73751	2.568000	0.86640	0.650000	0.86243	TGG	PNLIPRP1	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.502	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	HGNC	protein_coding	OTTHUMT00000384633.1	G	NM_006229		118357673	+1	no_errors	ENST00000358834	ensembl	human	known	70_37	missense	SNP	1.000	C
PRPF8	10594	genome.wustl.edu	37	17	1556890	1556890	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:1556890G>A	ENST00000572621.1	-	38	6580	c.6315C>T	c.(6313-6315)atC>atT	p.I2105I	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Silent_p.I2105I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2105	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTGGGAAGGATGTAGGTGT	0.488																																																	0													167.0	140.0	149.0					17																	1556890		2203	4300	6503	SO:0001819	synonymous_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6315C>T	17.37:g.1556890G>A			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.I2105	ENST00000572621.1	37	c.6315	CCDS11010.1	17																																																																																			PRPF8	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.488	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1556890	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	silent	SNP	1.000	A
PRPF8	10594	genome.wustl.edu	37	17	1557268	1557268	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:1557268G>A	ENST00000572621.1	-	37	6295	c.6030C>T	c.(6028-6030)atC>atT	p.I2010I	PRPF8_ENST00000575116.1_5'Flank|PRPF8_ENST00000304992.6_Silent_p.I2010I			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2010	Involved in interaction with pre-mRNA 5' splice site.|RNase H homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TACCCAGGATGATGTCTCGAA	0.527																																																	0													306.0	250.0	269.0					17																	1557268		2203	4300	6503	SO:0001819	synonymous_variant	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6030C>T	17.37:g.1557268G>A			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.I2010	ENST00000572621.1	37	c.6030	CCDS11010.1	17																																																																																			PRPF8	-	NULL		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	G			1557268	-1	no_errors	ENST00000304992	ensembl	human	known	70_37	silent	SNP	1.000	A
PSIP1	11168	genome.wustl.edu	37	9	15490010	15490010	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:15490010G>A	ENST00000380733.4	-	4	605	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PSIP1_ENST00000380738.4_Missense_Mutation_p.P88S|PSIP1_ENST00000380716.4_Missense_Mutation_p.P88S|PSIP1_ENST00000397519.2_Missense_Mutation_p.P88S|PSIP1_ENST00000380715.1_Missense_Mutation_p.P88S			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	88					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCACTTTTGGATTGTTATCT	0.294																																																	0													85.0	78.0	81.0					9																	15490010		2203	4297	6500	SO:0001583	missense	11168			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.262C>T	9.37:g.15490010G>A	ENSP00000370109:p.Pro88Ser		D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP,prints_Treacle-like_TCS	p.P88S	ENST00000380733.4	37	c.262	CCDS6479.1	9	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788356	0.90367	.	.	ENSG00000164985	ENST00000380733;ENST00000380738;ENST00000380715;ENST00000380716;ENST00000397519	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82632	0.5079	L	0.55743	1.74	0.80722	D	1	D;P;P	0.65815	0.995;0.87;0.573	D;P;P	0.76575	0.988;0.791;0.601	T	0.82600	-0.0377	10	0.72032	D	0.01	.	20.3009	0.98609	0.0:0.0:1.0:0.0	.	88;88;88	O75475-2;Q05CM9;O75475	.;.;PSIP1_HUMAN	S	88	ENSP00000370109:P88S;ENSP00000370114:P88S;ENSP00000370091:P88S;ENSP00000370092:P88S;ENSP00000380653:P88S	ENSP00000370091:P88S	P	-	1	0	PSIP1	15480010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.514000	0.98013	2.809000	0.96659	0.555000	0.69702	CCA	PSIP1	-	NULL		0.294	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1	G	NM_033222		15490010	-1	no_errors	ENST00000380733	ensembl	human	known	70_37	missense	SNP	1.000	A
PRRC2B	84726	genome.wustl.edu	37	9	134362574	134362574	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:134362574C>T	ENST00000357304.4	+	26	5932	c.5877C>T	c.(5875-5877)atC>atT	p.I1959I	PRRC2B_ENST00000458550.1_Silent_p.I1265I|PRRC2B_ENST00000372249.1_Silent_p.I56I|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000405995.1_Silent_p.I1265I	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1959							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCCAGCAGATCCCGATCTCCC	0.637																																																	0													39.0	44.0	42.0					9																	134362574		2049	4187	6236	SO:0001819	synonymous_variant	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5877C>T	9.37:g.134362574C>T			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Silent	SNP	pfam_BAT2_N	p.I1959	ENST00000357304.4	37	c.5877	CCDS48044.1	9																																																																																			PRRC2B	-	NULL		0.637	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		C			134362574	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPRB	5787	genome.wustl.edu	37	12	70956771	70956771	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:70956771C>G	ENST00000261266.5	-	14	3396	c.3367G>C	c.(3367-3369)Gat>Cat	p.D1123H	PTPRB_ENST00000334414.6_Missense_Mutation_p.D1341H|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1033H|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1340H|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1033H|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1033H|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1253H	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1123	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGATTCCCATCTGGGTTGTAC	0.517																																																	0													93.0	88.0	89.0					12																	70956771		1902	4125	6027	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3367G>C	12.37:g.70956771C>G	ENSP00000261266:p.Asp1123His		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D1341H	ENST00000261266.5	37	c.4021	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375612	0.82682	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.89	5.89	0.94794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.097447	0.64402	D	0.000002	T	0.77089	0.4079	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.997;0.997;0.982;0.997;0.998;0.987	T	0.76000	-0.3119	10	0.52906	T	0.07	.	20.2361	0.98357	0.0:1.0:0.0:0.0	.	1033;1033;1220;1340;1341;1123;1253	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	H	1341;1033;1253;1033;1033;1123;1340;1220	ENSP00000334928:D1341H;ENSP00000393028:D1033H;ENSP00000448058:D1253H;ENSP00000438927:D1033H;ENSP00000447302:D1033H;ENSP00000261266:D1123H;ENSP00000448349:D1340H;ENSP00000446982:D1220H	ENSP00000261266:D1123H	D	-	1	0	PTPRB	69243038	1.000000	0.71417	0.410000	0.26471	0.780000	0.44128	5.491000	0.66887	2.791000	0.96007	0.591000	0.81541	GAT	PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.517	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	C			70956771	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRB	5787	genome.wustl.edu	37	12	70989914	70989914	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:70989914G>A	ENST00000261266.5	-	3	548	c.519C>T	c.(517-519)ctC>ctT	p.L173L	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Silent_p.L391L|PTPRB_ENST00000538708.1_Silent_p.L173L|PTPRB_ENST00000551525.1_Silent_p.L390L|PTPRB_ENST00000550857.1_Silent_p.L173L|PTPRB_ENST00000451516.2_Silent_p.L173L|PTPRB_ENST00000550358.1_Silent_p.L391L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	173	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACCAGCAGTGAGATTGAAAA	0.348																																																	0													78.0	76.0	76.0					12																	70989914		1848	4084	5932	SO:0001819	synonymous_variant	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.519C>T	12.37:g.70989914G>A			B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.L391	ENST00000261266.5	37	c.1173	CCDS44944.1	12																																																																																			PTPRB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.348	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	G			70989914	-1	no_errors	ENST00000334414	ensembl	human	known	70_37	silent	SNP	1.000	A
PTPRS	5802	genome.wustl.edu	37	19	5274291	5274291	+	Silent	SNP	G	G	A	rs371714657		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:5274291G>A	ENST00000587303.1	-	2	255	c.156C>T	c.(154-156)ttC>ttT	p.F52F	PTPRS_ENST00000588012.1_Silent_p.F52F|PTPRS_ENST00000372412.4_Silent_p.F52F|PTPRS_ENST00000353284.2_Silent_p.F52F|PTPRS_ENST00000592099.1_Silent_p.F52F|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.F52F|PTPRS_ENST00000348075.2_Silent_p.F52F|PTPRS_ENST00000590509.1_Silent_p.F52F|PTPRS_ENST00000357368.4_Silent_p.F52F			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	52	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CCTGACACACGAAAGAGGCCA	0.597																																																	0								G	,,,	1,4405	2.1+/-5.4	0,1,2202	55.0	55.0	55.0		156,156,156,156	-0.2	1.0	19		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPRS	NM_002850.3,NM_130853.2,NM_130854.2,NM_130855.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	52/1949,52/1502,52/1911,52/1506	5274291	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.156C>T	19.37:g.5274291G>A			O75255|O75870|Q15718|Q16341|Q2M3R7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.F52	ENST00000587303.1	37	c.156	CCDS45930.1	19																																																																																			PTPRS	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.597	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	G			5274291	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	silent	SNP	0.998	A
PUS10	150962	genome.wustl.edu	37	2	61236108	61236108	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:61236108C>G	ENST00000316752.6	-	3	430	c.169G>C	c.(169-171)Gat>Cat	p.D57H	PUS10_ENST00000407787.1_Missense_Mutation_p.D57H	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	57					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			ATTAATTCATCTTTTTCAGTT	0.358																																																	0													46.0	46.0	46.0					2																	61236108		2203	4300	6503	SO:0001583	missense	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.169G>C	2.37:g.61236108C>G	ENSP00000326003:p.Asp57His		Q5JPJ5|Q96MI8	Missense_Mutation	SNP	superfamily_PsdUridine_synth_cat_dom	p.D57H	ENST00000316752.6	37	c.169	CCDS1865.1	2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101447	0.37048	.	.	ENSG00000162927	ENST00000316752;ENST00000407787;ENST00000421319	.	.	.	5.62	2.77	0.32553	.	0.729179	0.13877	N	0.356580	T	0.53254	0.1785	L	0.55481	1.735	0.80722	D	1	B	0.29590	0.25	B	0.37047	0.24	T	0.47142	-0.9140	9	0.38643	T	0.18	-23.0435	7.2562	0.26177	0.0:0.6924:0.1451:0.1626	.	57	Q3MIT2	PUS10_HUMAN	H	57	.	ENSP00000326003:D57H	D	-	1	0	PUS10	61089612	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.080000	0.30779	0.709000	0.31976	0.591000	0.81541	GAT	PUS10	-	NULL		0.358	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PUS10	HGNC	protein_coding	OTTHUMT00000251582.2	C	NM_144709		61236108	-1	no_errors	ENST00000316752	ensembl	human	known	70_37	missense	SNP	0.996	G
QTRT1	81890	genome.wustl.edu	37	19	10823475	10823475	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:10823475G>A	ENST00000250237.5	+	8	913	c.903G>A	c.(901-903)ttG>ttA	p.L301L		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	301					queuosine biosynthetic process (GO:0008616)|tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|queuine tRNA-ribosyltransferase activity (GO:0008479)			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACCTGCAGTTGAGGAAGAAGG	0.632																																																	0													123.0	112.0	116.0					19																	10823475		2203	4300	6503	SO:0001819	synonymous_variant	81890			AF302783	CCDS12248.1	19p13.3	2014-06-11	2008-07-31		ENSG00000213339	ENSG00000213339	2.4.2.29		23797	protein-coding gene	gene with protein product	"""tRNA-guanine transglycosylase"""	609615				20354154	Standard	NM_031209		Approved	TGT	uc002mpr.3	Q9BXR0		ENST00000250237.5:c.903G>A	19.37:g.10823475G>A			B4DFM7|Q96BQ4|Q9BXQ9	Silent	SNP	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans	p.L301	ENST00000250237.5	37	c.903	CCDS12248.1	19																																																																																			QTRT1	-	pfam_tRNA_ribo_trans,superfamily_tRNA_ribo_trans,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans		0.632	QTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QTRT1	HGNC	protein_coding	OTTHUMT00000452086.1	G	NM_031209		10823475	+1	no_errors	ENST00000250237	ensembl	human	known	70_37	silent	SNP	0.998	A
RABGEF1	27342	genome.wustl.edu	37	7	66274797	66274797	+	3'UTR	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:66274797G>C	ENST00000284957.5	+	0	2079				RABGEF1_ENST00000450873.2_3'UTR|RABGEF1_ENST00000484547.2_3'UTR|GTF2IRD1P1_ENST00000457166.1_RNA|KCTD7_ENST00000380828.2_3'UTR|RABGEF1_ENST00000439720.2_3'UTR|KCTD7_ENST00000510829.2_3'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						GAAGTATATTGAATGTTTGCC	0.299																																																	0																																										SO:0001624	3_prime_UTR_variant	27342			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.*526G>C	7.37:g.66274797G>C			B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	RNA	SNP	-	NULL	ENST00000284957.5	37	NULL	CCDS5535.1	7																																																																																			RABGEF1	-	-		0.299	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGEF1	HGNC	protein_coding	OTTHUMT00000251737.3	G	NM_014504		66274797	+1	no_errors	ENST00000484547	ensembl	human	known	70_37	rna	SNP	0.071	C
RAD23B	5887	genome.wustl.edu	37	9	110087185	110087185	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:110087185G>C	ENST00000358015.3	+	9	1367	c.1016G>C	c.(1015-1017)gGa>gCa	p.G339A	RAD23B_ENST00000416373.2_Missense_Mutation_p.G267A	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	339	Poly-Gly.				DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGTGGTCAAGGAGGAGGAGGT	0.428								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													83.0	71.0	75.0					9																	110087185		2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.1016G>C	9.37:g.110087185G>C	ENSP00000350708:p.Gly339Ala		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.G339A	ENST00000358015.3	37	c.1016	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262068	0.39995	.	.	ENSG00000119318	ENST00000358015;ENST00000416373	T;T	0.18502	2.25;2.21	5.5	5.5	0.81552	XPC-binding domain (2);UBA-like (1);	0.217344	0.46758	D	0.000268	T	0.14485	0.0350	L	0.29908	0.895	0.80722	D	1	P;D;B	0.54397	0.793;0.966;0.434	B;B;B	0.40940	0.262;0.344;0.267	T	0.08371	-1.0725	10	0.15066	T	0.55	-5.1016	19.762	0.96323	0.0:0.0:1.0:0.0	.	318;339;339	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	A	339;267	ENSP00000350708:G339A;ENSP00000405623:G267A	ENSP00000350708:G339A	G	+	2	0	RAD23B	109127006	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.490000	0.45294	2.741000	0.93983	0.650000	0.86243	GGA	RAD23B	-	superfamily_XPC-bd,superfamily_UBA-like,tigrfam_Rad23		0.428	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	G	NM_002874		110087185	+1	no_errors	ENST00000358015	ensembl	human	known	70_37	missense	SNP	1.000	C
RABL6	55684	genome.wustl.edu	37	9	139735412	139735412	+	3'UTR	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:139735412G>C	ENST00000311502.7	+	0	2864				RABL6_ENST00000371675.3_3'UTR|RABL6_ENST00000357466.2_Missense_Mutation_p.E519Q|RABL6_ENST00000371663.4_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TTCCGGCCGGGAGCCCTGAAC	0.697																																																	0													3.0	3.0	3.0					9																	139735412		638	1480	2118	SO:0001624	3_prime_UTR_variant	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.*438G>C	9.37:g.139735412G>C			A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.E519Q	ENST00000311502.7	37	c.1555	CCDS48058.1	9	.	.	.	.	.	.	.	.	.	.	.	4.620	0.115214	0.08831	.	.	ENSG00000196642	ENST00000371673;ENST00000357466	T	0.54279	0.58	1.8	-3.6	0.04570	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.09310	N	0.999998	B	0.24186	0.099	B	0.10450	0.005	T	0.13953	-1.0490	8	0.87932	D	0	.	2.8021	0.05417	0.3149:0.0:0.2406:0.4445	.	519	A8QVZ8	.	Q	520;519	ENSP00000350056:E519Q	ENSP00000350056:E519Q	E	+	1	0	C9orf86	138855233	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.698000	0.05092	-1.648000	0.01510	0.313000	0.20887	GAG	RABL6	-	NULL		0.697	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	G	NM_024718		139735412	+1	no_errors	ENST00000357466	ensembl	human	known	70_37	missense	SNP	0.000	C
RADIL	55698	genome.wustl.edu	37	7	4917599	4917599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:4917599G>A	ENST00000399583.3	-	2	359	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	RADIL_ENST00000536091.1_Nonsense_Mutation_p.Q58*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	58					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCCGACAGCTGGGTGGAGAGC	0.657																																																	0													19.0	24.0	22.0					7																	4917599		1994	4153	6147	SO:0001587	stop_gained	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.172C>T	7.37:g.4917599G>A	ENSP00000382492:p.Gln58*		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Nonsense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.Q58*	ENST00000399583.3	37	c.172	CCDS43544.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.501683	0.96371	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091;ENST00000457174	.	.	.	5.84	5.84	0.93424	.	0.061564	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-34.5244	19.1313	0.93408	0.0:0.0:1.0:0.0	.	.	.	.	X	58;32;58;58	.	ENSP00000320946:Q32X	Q	-	1	0	RADIL	4884125	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	9.476000	0.97823	2.769000	0.95229	0.561000	0.74099	CAG	RADIL	-	NULL		0.657	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RADIL	HGNC	protein_coding	OTTHUMT00000323769.2	G	NM_018059		4917599	-1	no_errors	ENST00000399583	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RALGAPA1	253959	genome.wustl.edu	37	14	36147177	36147177	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:36147177G>A	ENST00000389698.3	-	21	3475	c.3085C>T	c.(3085-3087)Ctt>Ttt	p.L1029F	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L1042F|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L1076F|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L1029F	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1029					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGTCTGAAGAACAGAGTGG	0.423																																																	0													88.0	80.0	83.0					14																	36147177		2203	4300	6503	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3085C>T	14.37:g.36147177G>A	ENSP00000374348:p.Leu1029Phe		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.L1076F	ENST00000389698.3	37	c.3226	CCDS32065.1	14	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422001	0.62622	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	D;D;D;D;D	0.94862	-3.52;-3.52;-3.54;-3.52;-3.54	5.38	4.38	0.52667	.	0.102123	0.36665	N	0.002471	D	0.93314	0.7869	L	0.43152	1.355	0.45015	D	0.998033	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.994	D;D;D;D;P	0.91635	0.997;0.994;0.999;0.985;0.854	D	0.89039	0.3447	10	0.08381	T	0.77	-11.7412	3.5331	0.07784	0.3689:0.0:0.6311:0.0	.	1076;1042;1076;1029;1029	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	F	1029;1029;1029;1076;1042;1076	ENSP00000374348:L1029F;ENSP00000302647:L1029F;ENSP00000258840:L1076F;ENSP00000371803:L1042F;ENSP00000451877:L1076F	ENSP00000258840:L1076F	L	-	1	0	RALGAPA1	35216928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.178000	0.58284	2.519000	0.84933	0.591000	0.81541	CTT	RALGAPA1	-	NULL		0.423	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	HGNC	protein_coding	OTTHUMT00000409829.1	G	XM_210022		36147177	-1	no_errors	ENST00000258840	ensembl	human	known	70_37	missense	SNP	1.000	A
RASD1	51655	genome.wustl.edu	37	17	17399452	17399452	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:17399452G>C	ENST00000225688.3	-	1	255	c.44C>G	c.(43-45)tCg>tGg	p.S15W	RASD1_ENST00000579152.1_Missense_Mutation_p.S15W	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	15					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						ACTCAGCTCCGAGTCGCTCGG	0.662																																																	0													58.0	53.0	54.0					17																	17399452		2203	4300	6503	SO:0001583	missense	51655			AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.44C>G	17.37:g.17399452G>C	ENSP00000225688:p.Ser15Trp		B2R709|B4DFF4|Q9NYB4	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.S15W	ENST00000225688.3	37	c.44	CCDS11185.1	17	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892189	0.17613	.	.	ENSG00000108551	ENST00000225688	T	0.74002	-0.8	4.81	4.81	0.61882	.	0.237106	0.41605	D	0.000847	T	0.71031	0.3292	N	0.24115	0.695	0.49213	D	0.999765	D	0.60575	0.988	P	0.50708	0.648	T	0.76350	-0.2991	10	0.66056	D	0.02	.	16.8723	0.86043	0.0:0.0:1.0:0.0	.	15	Q9Y272	RASD1_HUMAN	W	15	ENSP00000225688:S15W	ENSP00000225688:S15W	S	-	2	0	RASD1	17340177	1.000000	0.71417	0.998000	0.56505	0.457000	0.32468	3.047000	0.49854	2.199000	0.70637	0.655000	0.94253	TCG	RASD1	-	NULL		0.662	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD1	HGNC	protein_coding	OTTHUMT00000131668.1	G	NM_016084		17399452	-1	no_errors	ENST00000225688	ensembl	human	known	70_37	missense	SNP	0.999	C
RASSF9	9182	genome.wustl.edu	37	12	86199213	86199213	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:86199213G>T	ENST00000361228.3	-	2	943	c.575C>A	c.(574-576)tCc>tAc	p.S192Y		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	192					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGTCCTGGGAAATGATCAG	0.378																																																	0													156.0	145.0	148.0					12																	86199213		1836	4097	5933	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.575C>A	12.37:g.86199213G>T	ENSP00000354884:p.Ser192Tyr		B3KMQ4|Q8N5U8	Missense_Mutation	SNP	smart_Ras-assoc,pfscan_Ras-assoc	p.S192Y	ENST00000361228.3	37	c.575	CCDS44950.1	12	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186227	0.57909	.	.	ENSG00000198774	ENST00000361228	T	0.52295	0.67	4.91	4.91	0.64330	.	0.216046	0.40908	D	0.000998	T	0.68091	0.2963	M	0.77103	2.36	0.47584	D	0.999468	D	0.76494	0.999	D	0.74023	0.982	T	0.64791	-0.6324	10	0.18710	T	0.47	-21.438	18.4584	0.90729	0.0:0.0:1.0:0.0	.	192	O75901	RASF9_HUMAN	Y	192	ENSP00000354884:S192Y	ENSP00000354884:S192Y	S	-	2	0	RASSF9	84723344	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.532000	0.67154	2.445000	0.82738	0.655000	0.94253	TCC	RASSF9	-	NULL		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	HGNC	protein_coding	OTTHUMT00000406109.1	G			86199213	-1	no_errors	ENST00000361228	ensembl	human	known	70_37	missense	SNP	1.000	T
RBMS1	5937	genome.wustl.edu	37	2	161130832	161130832	+	3'UTR	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:161130832C>T	ENST00000348849.3	-	0	2102				ITGB6_ENST00000485635.1_5'Flank|RBMS1_ENST00000474820.1_5'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1						DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								ATTTAAACTTCAGAAAGCCCA	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.*451G>A	2.37:g.161130832C>T			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	RNA	SNP	-	NULL	ENST00000348849.3	37	NULL	CCDS2213.1	2																																																																																			RBMS1	-	-		0.393	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	C	NM_016836		161130832	-1	no_errors	ENST00000474820	ensembl	human	known	70_37	rna	SNP	1.000	T
RMND5B	64777	genome.wustl.edu	37	5	177571073	177571073	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:177571073C>T	ENST00000515098.1	+	8	1009	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RMND5B_ENST00000542098.1_Missense_Mutation_p.R207W|RMND5B_ENST00000313386.4_Missense_Mutation_p.R220W			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	220										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCTATGCTCGGCACTTCCA	0.627																																																	0													44.0	45.0	44.0					5																	177571073		2203	4300	6503	SO:0001583	missense	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.658C>T	5.37:g.177571073C>T	ENSP00000420875:p.Arg220Trp		Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R220W	ENST00000515098.1	37	c.658	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619193	0.46736	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.3	3.41	0.39046	Ran binding protein-like, CRA domain (1);	0.000000	0.64402	D	0.000001	T	0.80752	0.4683	M	0.91196	3.185	0.51482	D	0.999928	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.82408	-0.0472	9	0.87932	D	0	-27.6341	9.2562	0.37584	0.3935:0.6065:0.0:0.0	.	207;207;220	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	W	220;220;207	.	ENSP00000320623:R220W	R	+	1	2	RMND5B	177503679	0.371000	0.25056	0.998000	0.56505	0.364000	0.29643	0.837000	0.27558	0.976000	0.38417	0.313000	0.20887	CGG	RMND5B	-	smart_CRA_dom		0.627	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	C	NM_022762		177571073	+1	no_errors	ENST00000313386	ensembl	human	known	70_37	missense	SNP	0.992	T
ROR1	4919	genome.wustl.edu	37	1	64644127	64644127	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:64644127G>C	ENST00000371079.1	+	9	2778	c.2403G>C	c.(2401-2403)caG>caC	p.Q801H	ROR1_ENST00000545203.1_Missense_Mutation_p.Q252H	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	801	Pro-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CACAGGGCCAGATTGCTGGTT	0.517																																																	0													70.0	71.0	71.0					1																	64644127		2203	4300	6503	SO:0001583	missense	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2403G>C	1.37:g.64644127G>C	ENSP00000360120:p.Gln801His		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q801H	ENST00000371079.1	37	c.2403	CCDS626.1	1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703736	0.48412	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.79940	-1.04;-1.32	6.17	5.25	0.73442	.	0.000000	0.40728	N	0.001030	T	0.74329	0.3702	N	0.24115	0.695	0.54753	D	0.999985	D	0.71674	0.998	D	0.66979	0.948	T	0.77713	-0.2485	10	0.41790	T	0.15	.	10.744	0.46170	0.1828:0.0:0.8172:0.0	.	801	Q01973	ROR1_HUMAN	H	801;804;252	ENSP00000360120:Q801H;ENSP00000441637:Q252H	ENSP00000360120:Q801H	Q	+	3	2	ROR1	64416715	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.351000	0.34022	1.599000	0.50093	0.655000	0.94253	CAG	ROR1	-	pirsf_Tyr_kinase_rcpt_ROR		0.517	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR1	HGNC	protein_coding	OTTHUMT00000025002.1	G	NM_005012		64644127	+1	no_errors	ENST00000371079	ensembl	human	known	70_37	missense	SNP	1.000	C
RPTOR	57521	genome.wustl.edu	37	17	78518703	78518703	+	5'Flank	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:78518703G>C	ENST00000306801.3	+	0	0				RPTOR_ENST00000544334.2_5'Flank|RPTOR_ENST00000570891.1_5'UTR|RPTOR_ENST00000537330.1_5'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1						cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCCAAACCAGAGGGCAAAGC	0.582																																																	0																																										SO:0001631	upstream_gene_variant	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122			17.37:g.78518703G>C	Exception_encountered		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	RNA	SNP	-	NULL	ENST00000306801.3	37	NULL	CCDS11773.1	17																																																																																			RPTOR	-	-		0.582	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	G	NM_020761		78518703	+1	no_errors	ENST00000577161	ensembl	human	known	70_37	rna	SNP	1.000	C
RSPH10B2	728194	genome.wustl.edu	37	7	6820458	6820458	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:6820458C>T	ENST00000403107.1	+	13	1935	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	RSPH10B2_ENST00000297186.3_Silent_p.L516L|RSPH10B2_ENST00000359718.3_Intron|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000433859.2_Silent_p.L516L|RSPH10B2_ENST00000404077.1_Silent_p.L516L			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	516										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GCCCATCCCTCTTCTTGTGTT	0.408																																																	0													110.0	119.0	116.0					7																	6820458		2127	4203	6330	SO:0001819	synonymous_variant	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.1548C>T	7.37:g.6820458C>T			A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	pfam_MORN,smart_MORN	p.L516	ENST00000403107.1	37	c.1548	CCDS43552.1	7																																																																																			RSPH10B2	-	NULL		0.408	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH10B2	HGNC	protein_coding	OTTHUMT00000324184.4	C	NM_001099697		6820458	+1	no_errors	ENST00000297186	ensembl	human	known	70_37	silent	SNP	0.989	T
RTKN2	219790	genome.wustl.edu	37	10	63944087	63944087	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:63944087G>T	ENST00000315289.2	-	9	1089	c.921C>A	c.(919-921)ttC>ttA	p.F307L	RTKN2_ENST00000395265.1_Missense_Mutation_p.F526L			Q8IZC4	RTKN2_HUMAN	rhotekin 2	0	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GAAGCTATGTGAAGAGGAATT	0.333																																																	0																																										SO:0001583	missense	219790			BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000315289.2:c.921C>A	10.37:g.63944087G>T	ENSP00000325379:p.Phe307Leu		Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F526L	ENST00000315289.2	37	c.1578		10	.	.	.	.	.	.	.	.	.	.	G	6.389	0.439847	0.12104	.	.	ENSG00000182010	ENST00000315289;ENST00000395265	T;T	0.41758	0.99;1.61	4.01	2.12	0.27331	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.26677	-1.0096	8	0.87932	D	0	.	5.5492	0.17081	0.1095:0.2025:0.688:0.0	.	307	Q5SVY4	.	L	307;526	ENSP00000325379:F307L;ENSP00000378682:F526L	ENSP00000325379:F307L	F	-	3	2	RTKN2	63614093	0.538000	0.26394	0.121000	0.21740	0.181000	0.23173	0.470000	0.22084	0.640000	0.30582	-0.229000	0.12294	TTC	RTKN2	-	NULL		0.333	RTKN2-003	PUTATIVE	basic	protein_coding	RTKN2	HGNC	protein_coding	OTTHUMT00000048235.1	G	NM_145307		63944087	-1	no_errors	ENST00000395265	ensembl	human	known	70_37	missense	SNP	0.210	T
RUNX1	861	genome.wustl.edu	37	21	36228598	36228598	+	Intron	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:36228598C>G	ENST00000344691.4	-	3	2110				RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000437180.1_Intron|RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000399240.1_Intron	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1						behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ACGCATACCTCAAGTCAAAGG	0.448			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																			Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0																																										SO:0001627	intron_variant	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.532+3172G>C	21.37:g.36228598C>G			A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	RNA	SNP	-	NULL	ENST00000344691.4	37	NULL	CCDS42922.1	21																																																																																			RUNX1	-	-		0.448	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	C			36228598	-1	no_errors	ENST00000467577	ensembl	human	known	70_37	rna	SNP	0.001	G
SAMD5	389432	genome.wustl.edu	37	6	147830478	147830478	+	Silent	SNP	C	C	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:147830478C>A	ENST00000367474.1	+	1	416	c.414C>A	c.(412-414)ctC>ctA	p.L138L		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	138													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GGGATAAGCTCGTCCGTGACG	0.697																																																	0													25.0	20.0	21.0					6																	147830478		2202	4298	6500	SO:0001819	synonymous_variant	389432			AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"""Sterile alpha motif (SAM) domain containing"""	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.414C>A	6.37:g.147830478C>A				Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.L138	ENST00000367474.1	37	c.414	CCDS34548.1	6																																																																																			SAMD5	-	NULL		0.697	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD5	HGNC	protein_coding	OTTHUMT00000042610.1	C	NM_001030060		147830478	+1	no_errors	ENST00000367474	ensembl	human	known	70_37	silent	SNP	0.977	A
SBNO1	55206	genome.wustl.edu	37	12	123813354	123813354	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:123813354C>G	ENST00000602398.1	-	10	1350	c.1223G>C	c.(1222-1224)aGc>aCc	p.S408T	SBNO1_ENST00000420886.2_Missense_Mutation_p.S408T|SBNO1_ENST00000602750.1_Missense_Mutation_p.S407T|SBNO1_ENST00000267176.4_Missense_Mutation_p.S407T			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	408					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCCAGACTGGCTTTCACCAAT	0.353																																																	0													136.0	130.0	132.0					12																	123813354		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1223G>C	12.37:g.123813354C>G	ENSP00000473665:p.Ser408Thr		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.S408T	ENST00000602398.1	37	c.1223	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900199	0.72754	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.35048	1.33;1.33	5.53	5.53	0.82687	Helicase/UvrB domain (1);	0.000000	0.85682	D	0.000000	T	0.63248	0.2495	M	0.76838	2.35	0.80722	D	1	B;B;D	0.56035	0.392;0.094;0.974	B;B;D	0.70487	0.246;0.234;0.969	T	0.63129	-0.6706	10	0.48119	T	0.1	-26.5549	19.4671	0.94946	0.0:1.0:0.0:0.0	.	408;407;406	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	T	408;407;407	ENSP00000387361:S408T;ENSP00000267176:S407T	ENSP00000267176:S407T	S	-	2	0	SBNO1	122379307	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.818000	0.86416	2.603000	0.88011	0.313000	0.20887	AGC	SBNO1	-	pfam_Helicase/UvrB_dom		0.353	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123813354	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	G
SBNO2	22904	genome.wustl.edu	37	19	1127732	1127732	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:1127732G>C	ENST00000361757.3	-	5	549	c.312C>G	c.(310-312)atC>atG	p.I104M	SBNO2_ENST00000587024.1_Missense_Mutation_p.I104M|SBNO2_ENST00000438103.2_Missense_Mutation_p.I47M	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	104					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAGATGGAGATGTTGGAGA	0.617																																																	0													103.0	113.0	110.0					19																	1127732		2122	4236	6358	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.312C>G	19.37:g.1127732G>C	ENSP00000354733:p.Ile104Met		A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.I104M	ENST00000361757.3	37	c.312	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	G	5.612	0.297631	0.10622	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.46	-0.195	0.13236	.	2.956140	0.01864	N	0.036816	T	0.17662	0.0424	N	0.22421	0.69	0.22571	N	0.99898	P;P;B;B	0.35542	0.508;0.508;0.16;0.247	B;B;B;B	0.28139	0.06;0.086;0.037;0.082	T	0.11842	-1.0571	9	0.46703	T	0.11	.	1.8289	0.03126	0.1908:0.1583:0.4887:0.1623	.	47;104;104;47	B4DL53;B4DV91;Q9Y2G9;Q9Y2G9-3	.;.;SBNO2_HUMAN;.	M	104;47;61	.	ENSP00000250872:I61M	I	-	3	3	SBNO2	1078732	1.000000	0.71417	0.289000	0.24876	0.145000	0.21501	3.435000	0.52849	-0.050000	0.13356	0.491000	0.48974	ATC	SBNO2	-	NULL		0.617	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	G	NM_014963		1127732	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	0.954	C
SCARF2	91179	genome.wustl.edu	37	22	20786087	20786087	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:20786087C>G	ENST00000266214.5	-	3	383	c.279G>C	c.(277-279)gtG>gtC	p.V93V	SCARF2_ENST00000405555.3_Silent_p.V93V	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	93	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGCCAGGCCTCACGCACACCT	0.687																																																	0													34.0	25.0	28.0					22																	20786087		2192	4287	6479	SO:0001819	synonymous_variant	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.279G>C	22.37:g.20786087C>G			E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.V93	ENST00000266214.5	37	c.279	CCDS13779.1	22																																																																																			SCARF2	-	smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom		0.687	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	C			20786087	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	silent	SNP	1.000	G
SDC4	6385	genome.wustl.edu	37	20	43955982	43955982	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:43955982C>T	ENST00000372733.3	-	5	558	c.519G>A	c.(517-519)aaG>aaA	p.K173K	SDC4_ENST00000537976.1_Silent_p.K101K	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	173					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stress fiber assembly (GO:0051496)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|costamere (GO:0043034)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CATCCTTCTTCTTCATACGGT	0.537			T	ROS1	NSCLC																																			Dom	yes		20	20q12	6385	syndecan 4		E	0													117.0	102.0	107.0					20																	43955982		2203	4300	6503	SO:0001819	synonymous_variant	6385			X67016, D13292	CCDS13350.1	20q12	2010-03-25	2007-02-15		ENSG00000124145	ENSG00000124145		"""Proteoglycans / Cell Surface : Syndecans"""	10661	protein-coding gene	gene with protein product	"""syndecan proteoglycan 4"""	600017	"""syndecan 4 (amphiglycan, ryudocan)"""			7916598, 1500433	Standard	NM_002999		Approved	SYND4, amphiglycan, ryudocan	uc002xnu.3	P31431	OTTHUMG00000033083	ENST00000372733.3:c.519G>A	20.37:g.43955982C>T			O00773|Q16833|Q53FN9|Q6FGN3	Silent	SNP	pfam_Syndecan,smart_Neurexin-like	p.K173	ENST00000372733.3	37	c.519	CCDS13350.1	20																																																																																			SDC4	-	pfam_Syndecan,smart_Neurexin-like		0.537	SDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC4	HGNC	protein_coding	OTTHUMT00000080515.1	C	NM_002999		43955982	-1	no_errors	ENST00000372733	ensembl	human	known	70_37	silent	SNP	1.000	T
SEC31B	25956	genome.wustl.edu	37	10	102247537	102247537	+	Missense_Mutation	SNP	C	C	T	rs373491242	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:102247537C>T	ENST00000370345.3	-	26	3473	c.3376G>A	c.(3376-3378)Gtg>Atg	p.V1126M		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1126					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGCCCAGCCACGACATGAGGT	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		20886	0.0		0.0	False		,,,				2504	0.002																0								C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	39.0	38.0	38.0		3376	0.6	0.9	10		38	0,8600		0,0,4300	no	missense	SEC31B	NM_015490.3	21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1126/1180	102247537	1,13005	2203	4300	6503	SO:0001583	missense	25956			AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3376G>A	10.37:g.102247537C>T	ENSP00000359370:p.Val1126Met		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1126M	ENST00000370345.3	37	c.3376	CCDS7495.1	10	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295502	0.40594	2.27E-4	0.0	ENSG00000075826	ENST00000370345	T	0.53206	0.63	4.8	0.554	0.17241	.	0.301931	0.32314	N	0.006266	T	0.29355	0.0731	N	0.19112	0.55	0.80722	D	1	P;P	0.49961	0.93;0.886	B;B	0.43701	0.428;0.178	T	0.06127	-1.0844	10	0.72032	D	0.01	-0.4397	5.4004	0.16293	0.076:0.2713:0.5227:0.1301	.	1125;1126	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	M	1126	ENSP00000359370:V1126M	ENSP00000359370:V1126M	V	-	1	0	SEC31B	102237527	1.000000	0.71417	0.944000	0.38274	0.898000	0.52572	1.065000	0.30592	0.196000	0.20367	-0.311000	0.09066	GTG	SEC31B	-	NULL		0.577	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC31B	HGNC	protein_coding	OTTHUMT00000051198.1	C	NM_015490		102247537	-1	no_errors	ENST00000370345	ensembl	human	known	70_37	missense	SNP	0.999	T
SEC63	11231	genome.wustl.edu	37	6	108243115	108243116	+	Splice_Site	INS	-	-	GGG	rs142388422	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:108243115_108243116insGGG	ENST00000369002.4	-	4	519		c.e4-2			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						liver development (GO:0001889)|multicellular organismal aging (GO:0010259)|nitrogen compound metabolic process (GO:0006807)|posttranslational protein targeting to membrane (GO:0006620)|posttranslational protein targeting to membrane, translocation (GO:0031204)|protein targeting to membrane (GO:0006612)|renal system development (GO:0072001)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TGTGGCTCCCTGGGGAAAAACA	0.317														1685	0.336462	0.2428	0.3703	5008	,	,		14450	0.3333		0.3499	False		,,,				2504	0.4284																0																																										SO:0001630	splice_region_variant	11231			BC048287	CCDS5061.1	6q21	2011-09-05	2006-09-12		ENSG00000025796	ENSG00000025796		"""Heat shock proteins / DNAJ (HSP40)"""	21082	protein-coding gene	gene with protein product		608648	"""SEC63-like (S. cerevisiae)"""			10219736, 10543453	Standard	NM_007214		Approved	SEC63L, PRO2507, ERdj2, DNAJC23	uc003psc.4	Q9UGP8	OTTHUMG00000015316	ENST00000369002.4:c.340-2->CCC	6.37:g.108243116_108243118dupGGG			O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Splice_Site	INS	-	e4-2	ENST00000369002.4	37	c.340-3_340-2	CCDS5061.1	6																																																																																			SEC63	-	-		0.317	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC63	HGNC	protein_coding	OTTHUMT00000041705.4	-	NM_007214	Intron	108243116	-1	no_errors	ENST00000369002	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.980	GGG
SEL1L3	23231	genome.wustl.edu	37	4	25848925	25848925	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:25848925G>A	ENST00000399878.3	-	2	846	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	SEL1L3_ENST00000264868.5_Silent_p.L207L|SEL1L3_ENST00000502949.1_Silent_p.L89L|SEL1L3_ENST00000513364.1_Intron	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	242						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CCATTTTCCAGAGGACACTGT	0.423																																																	0													89.0	82.0	84.0					4																	25848925		1888	4101	5989	SO:0001819	synonymous_variant	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.724C>T	4.37:g.25848925G>A			A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Silent	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like	p.L242	ENST00000399878.3	37	c.724	CCDS47037.1	4																																																																																			SEL1L3	-	NULL		0.423	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	G	NM_015187		25848925	-1	no_errors	ENST00000399878	ensembl	human	known	70_37	silent	SNP	1.000	A
SETMAR	6419	genome.wustl.edu	37	3	4358139	4358139	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:4358139G>A	ENST00000358065.4	+	3	1331	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	SETMAR_ENST00000425863.1_Missense_Mutation_p.E283K|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	422	Mariner transposase Hsmar1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		agcaatcatcgaagctgatcc	0.453								Chromatin Structure																																									0													14.0	15.0	14.0					3																	4358139		2198	4297	6495	SO:0001583	missense	6419			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.1264G>A	3.37:g.4358139G>A	ENSP00000373354:p.Glu422Lys		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.E422K	ENST00000358065.4	37	c.1264	CCDS2563.2	3	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348149	0.24426	.	.	ENSG00000170364	ENST00000358065;ENST00000425863;ENST00000358950	T;T;T	0.25414	1.8;1.8;1.8	0.235	0.235	0.15431	Transposase, Tc1-like (1);	0.504996	0.16252	U	0.222675	T	0.22282	0.0537	L	0.28400	0.85	0.09310	N	0.999994	B;P;P;B	0.48503	0.046;0.875;0.911;0.432	B;P;P;B	0.50231	0.053;0.572;0.635;0.144	T	0.10019	-1.0648	9	0.38643	T	0.18	.	.	.	.	.	166;283;409;167	B4DND2;E7EN68;Q53H47;Q96H41	.;.;SETMR_HUMAN;.	K	422;283;186	ENSP00000373354:E422K;ENSP00000403145:E283K;ENSP00000369673:E186K	ENSP00000373354:E422K	E	+	1	0	SETMAR	4333139	0.687000	0.27671	0.435000	0.26784	0.439000	0.31926	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	GAA	SETMAR	-	pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like		0.453	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	G	NM_006515		4358139	+1	no_errors	ENST00000358065	ensembl	human	known	70_37	missense	SNP	0.525	A
SEZ6L2	26470	genome.wustl.edu	37	16	29906726	29906726	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29906726C>T	ENST00000308713.5	-	5	1234	c.707G>A	c.(706-708)gGa>gAa	p.G236E	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G192E|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G166E|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	236	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G236A(1)|p.G166A(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGGGGATCCCCCACCAGC	0.627																																																	2	Substitution - Missense(2)	lung(2)											41.0	50.0	47.0					16																	29906726		2197	4300	6497	SO:0001583	missense	26470			AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.707G>A	16.37:g.29906726C>T	ENSP00000312550:p.Gly236Glu		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G236E	ENST00000308713.5	37	c.707	CCDS10659.1	16	.	.	.	.	.	.	.	.	.	.	c	14.49	2.549856	0.45383	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.37584	1.19;1.19;1.19	5.22	5.22	0.72569	CUB (5);	0.000000	0.48767	D	0.000179	T	0.53433	0.1796	M	0.62723	1.935	0.54753	D	0.999988	P;B;D;D;B	0.76494	0.799;0.186;0.999;0.997;0.154	P;B;D;D;B	0.66084	0.465;0.128;0.941;0.941;0.078	T	0.54275	-0.8318	10	0.56958	D	0.05	.	11.7866	0.52045	0.0:0.9146:0.0:0.0854	.	192;236;166;236;166	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	E	166;236;192	ENSP00000310206:G166E;ENSP00000312550:G236E;ENSP00000439412:G192E	ENSP00000312550:G236E	G	-	2	0	SEZ6L2	29814227	0.925000	0.31364	0.954000	0.39281	0.377000	0.30045	3.354000	0.52254	2.434000	0.82447	0.586000	0.80456	GGA	SEZ6L2	-	superfamily_CUB,smart_CUB,pfscan_CUB		0.627	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L2	HGNC	protein_coding	OTTHUMT00000255154.2	C	NM_012410		29906726	-1	no_errors	ENST00000308713	ensembl	human	known	70_37	missense	SNP	0.995	T
SHF	90525	genome.wustl.edu	37	15	45467558	45467558	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:45467558C>T	ENST00000560734.1	-	3	706	c.706G>A	c.(706-708)Gag>Aag	p.E236K	SHF_ENST00000560471.1_Missense_Mutation_p.E236K|SHF_ENST00000560540.1_Missense_Mutation_p.E236K|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000318390.6_Missense_Mutation_p.E228K|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000290894.8_Missense_Mutation_p.E171K|SHF_ENST00000458022.2_Missense_Mutation_p.E34K					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		CCATCCTCCTCTGGCTCATAG	0.657																																																	0													34.0	30.0	31.0					15																	45467558		2195	4294	6489	SO:0001583	missense	90525			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.706G>A	15.37:g.45467558C>T	ENSP00000453168:p.Glu236Lys			Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.E228K	ENST00000560734.1	37	c.682		15	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843032	0.51057	.	.	ENSG00000138606	ENST00000290894;ENST00000361989;ENST00000318390;ENST00000458022;ENST00000413198	T;T;T	0.29397	1.57;1.57;1.57	5.25	5.25	0.73442	.	0.486255	0.22390	N	0.060684	T	0.24122	0.0584	L	0.43923	1.385	0.30166	N	0.801694	B;P;B;B;B	0.50943	0.43;0.94;0.142;0.059;0.013	B;B;B;B;B	0.40066	0.213;0.318;0.098;0.039;0.01	T	0.12319	-1.0552	10	0.20519	T	0.43	-11.6785	11.4461	0.50125	0.18:0.8199:0.0:0.0	.	34;171;161;228;171	Q8N9I8;E7EV73;E7EWB7;F8W6K9;Q7M4L6	.;.;.;.;SHF_HUMAN	K	171;171;228;34;161	ENSP00000290894:E171K;ENSP00000315978:E228K;ENSP00000411530:E34K	ENSP00000290894:E171K	E	-	1	0	SHF	43254850	0.589000	0.26807	1.000000	0.80357	0.930000	0.56654	1.995000	0.40767	2.446000	0.82766	0.491000	0.48974	GAG	SHF	-	NULL		0.657	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	SHF	HGNC	protein_coding	OTTHUMT00000416338.1	C	NM_138356		45467558	-1	no_errors	ENST00000318390	ensembl	human	known	70_37	missense	SNP	0.997	T
SHOC2	8036	genome.wustl.edu	37	10	112724639	112724639	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:112724639G>A	ENST00000369452.4	+	2	868	c.523G>A	c.(523-525)Gat>Aat	p.D175N	SHOC2_ENST00000265277.5_Missense_Mutation_p.D175N|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	175					fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCGGATGCTTGATTTACGGCA	0.408																																																	0													90.0	96.0	94.0					10																	112724639		2201	4299	6500	SO:0001583	missense	8036			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.523G>A	10.37:g.112724639G>A	ENSP00000358464:p.Asp175Asn		A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.D175N	ENST00000369452.4	37	c.523	CCDS7568.1	10	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166429	0.57476	.	.	ENSG00000108061	ENST00000265277;ENST00000369452;ENST00000451838	T;T;T	0.57907	0.37;0.37;2.92	5.79	5.79	0.91817	.	0.045577	0.85682	D	0.000000	T	0.65344	0.2682	L	0.39397	1.21	0.80722	D	1	B;D	0.56287	0.447;0.975	B;D	0.64237	0.179;0.923	T	0.62530	-0.6835	10	0.46703	T	0.11	.	20.0371	0.97565	0.0:0.0:1.0:0.0	.	175;175	Q9UQ13-2;Q9UQ13	.;SHOC2_HUMAN	N	175;175;11	ENSP00000265277:D175N;ENSP00000358464:D175N;ENSP00000408275:D11N	ENSP00000265277:D175N	D	+	1	0	SHOC2	112714629	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	9.869000	0.99810	2.734000	0.93682	0.655000	0.94253	GAT	SHOC2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.408	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHOC2	HGNC	protein_coding	OTTHUMT00000050355.1	G	NM_007373		112724639	+1	no_errors	ENST00000369452	ensembl	human	known	70_37	missense	SNP	1.000	A
SIDT1	54847	genome.wustl.edu	37	3	113345005	113345005	+	Silent	SNP	C	C	T	rs150661858		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:113345005C>T	ENST00000264852.4	+	24	3090	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	SIDT1_ENST00000393830.3_Silent_p.F793F|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	788					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TGGATTTCTTCGATGACCATG	0.488																																																	0													271.0	249.0	256.0					3																	113345005		2203	4300	6503	SO:0001819	synonymous_variant	54847			AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2364C>T	3.37:g.113345005C>T			Q17RR4	Silent	SNP	NULL	p.F793	ENST00000264852.4	37	c.2379	CCDS2974.1	3																																																																																			SIDT1	-	NULL		0.488	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT1	HGNC	protein_coding	OTTHUMT00000317564.1	C	NM_017699		113345005	+1	no_errors	ENST00000393830	ensembl	human	known	70_37	silent	SNP	0.999	T
SIGLEC1	6614	genome.wustl.edu	37	20	3684082	3684082	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:3684082C>T	ENST00000344754.4	-	5	989	c.990G>A	c.(988-990)gtG>gtA	p.V330V	SIGLEC1_ENST00000202578.4_Silent_p.V330V	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	330	Ig-like C2-type 3.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGCTGGGCTCACCTGGACCT	0.607																																																	0													62.0	52.0	56.0					20																	3684082		2203	4300	6503	SO:0001819	synonymous_variant	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.990G>A	20.37:g.3684082C>T			Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V330	ENST00000344754.4	37	c.990	CCDS13060.1	20																																																																																			SIGLEC1	-	pfscan_Ig-like		0.607	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	C	NM_023068		3684082	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC1A7	6512	genome.wustl.edu	37	1	53580588	53580588	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:53580588G>A	ENST00000371494.4	-	3	400	c.273C>T	c.(271-273)ctC>ctT	p.L91L	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Silent_p.L91L	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	91					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		ACGCCACGGTGAGGACGCCCA	0.647																																					NSCLC(128;80 1811 21245 38490 51715)												0													90.0	72.0	78.0					1																	53580588		2203	4300	6503	SO:0001819	synonymous_variant	6512			U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.273C>T	1.37:g.53580588G>A			Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.L91	ENST00000371494.4	37	c.273	CCDS574.1	1																																																																																			SLC1A7	-	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter		0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A7	HGNC	protein_coding	OTTHUMT00000024746.1	G	NM_006671		53580588	-1	no_errors	ENST00000371494	ensembl	human	known	70_37	silent	SNP	0.988	A
SLC26A11	284129	genome.wustl.edu	37	17	78222034	78222034	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:78222034C>G	ENST00000361193.3	+	14	1680	c.1400C>G	c.(1399-1401)tCt>tGt	p.S467C	SLC26A11_ENST00000546047.2_Missense_Mutation_p.S467C|SLC26A11_ENST00000572725.1_Missense_Mutation_p.S467C|SLC26A11_ENST00000411502.3_Missense_Mutation_p.S467C	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTCCTGCACTCTGCAGCCAGG	0.637																																																	0													42.0	36.0	38.0					17																	78222034		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1400C>G	17.37:g.78222034C>G	ENSP00000355384:p.Ser467Cys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.S467C	ENST00000361193.3	37	c.1400	CCDS11771.2	17	.	.	.	.	.	.	.	.	.	.	C	5.909	0.351824	0.11182	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93604	-3.25;-3.25;-3.25	4.97	1.4	0.22301	Sulphate transporter/antisigma-factor antagonist STAS (1);	0.807050	0.11776	N	0.530658	D	0.90055	0.6894	L	0.42245	1.32	0.09310	N	1	D	0.55385	0.971	P	0.46049	0.502	T	0.81355	-0.0970	10	0.49607	T	0.09	-13.8303	7.7777	0.29048	0.2984:0.6138:0.0:0.0877	.	467	Q86WA9	S2611_HUMAN	C	467	ENSP00000403998:S467C;ENSP00000440724:S467C;ENSP00000355384:S467C	ENSP00000355384:S467C	S	+	2	0	SLC26A11	75836629	0.000000	0.05858	0.340000	0.25575	0.006000	0.05464	0.242000	0.18087	0.494000	0.27859	-0.293000	0.09583	TCT	SLC26A11	-	superfamily_STAS_dom		0.637	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000257281.1	C			78222034	+1	no_errors	ENST00000361193	ensembl	human	known	70_37	missense	SNP	0.014	G
SLC26A3	1811	genome.wustl.edu	37	7	107434312	107434312	+	Missense_Mutation	SNP	T	T	C	rs386833456		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:107434312T>C	ENST00000340010.5	-	3	330	c.146A>G	c.(145-147)aAg>aGg	p.K49R	SLC26A3_ENST00000422236.2_Intron	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	49					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCTCTTGGCCTTTTGTGGGGA	0.418																																																	0													95.0	90.0	92.0					7																	107434312		2203	4300	6503	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.146A>G	7.37:g.107434312T>C	ENSP00000345873:p.Lys49Arg			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.K49R	ENST00000340010.5	37	c.146	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	T	7.542	0.660906	0.14645	.	.	ENSG00000091138	ENST00000340010;ENST00000453332	D;D	0.93426	-3.22;-2.71	5.1	3.95	0.45737	.	0.153986	0.64402	N	0.000020	D	0.85362	0.5679	N	0.20685	0.6	0.80722	D	1	B	0.11235	0.004	B	0.11329	0.006	T	0.76942	-0.2772	9	.	.	.	.	8.685	0.34232	0.0:0.1673:0.0:0.8327	.	49	P40879	S26A3_HUMAN	R	49	ENSP00000345873:K49R;ENSP00000395955:K49R	.	K	-	2	0	SLC26A3	107221548	1.000000	0.71417	0.984000	0.44739	0.927000	0.56198	1.029000	0.30140	0.969000	0.38237	0.402000	0.26972	AAG	SLC26A3	-	NULL		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1	T	NM_000111		107434312	-1	no_errors	ENST00000340010	ensembl	human	known	70_37	missense	SNP	0.998	C
SLC27A2	11001	genome.wustl.edu	37	15	50521170	50521170	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:50521170G>A	ENST00000267842.5	+	8	1718	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	SLC27A2_ENST00000544960.1_Missense_Mutation_p.E261K|SLC27A2_ENST00000380902.4_Missense_Mutation_p.E443K	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	496					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGCCACCACTGAAGTTGCTGA	0.463																																																	0													173.0	146.0	155.0					15																	50521170		2196	4295	6491	SO:0001583	missense	11001			D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1486G>A	15.37:g.50521170G>A	ENSP00000267842:p.Glu496Lys		A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E496K	ENST00000267842.5	37	c.1486	CCDS10133.1	15	.	.	.	.	.	.	.	.	.	.	G	31	5.071090	0.93950	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.72394	-0.65;-0.65;-0.65	5.47	5.47	0.80525	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.90266	0.6956	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93629	0.6954	10	0.87932	D	0	.	16.8319	0.85946	0.0:0.0:1.0:0.0	.	443;496	Q6PF09;O14975	.;S27A2_HUMAN	K	443;496;261	ENSP00000370289:E443K;ENSP00000267842:E496K;ENSP00000444549:E261K	ENSP00000267842:E496K	E	+	1	0	SLC27A2	48308462	1.000000	0.71417	0.997000	0.53966	0.699000	0.40488	9.474000	0.97718	2.579000	0.87056	0.655000	0.94253	GAA	SLC27A2	-	pfam_AMP-dep_Synth/Lig		0.463	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A2	HGNC	protein_coding	OTTHUMT00000254539.2	G	NM_003645		50521170	+1	no_errors	ENST00000267842	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC44A3	126969	genome.wustl.edu	37	1	95332942	95332942	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:95332942G>A	ENST00000271227.6	+	12	1553	c.1451G>A	c.(1450-1452)tGt>tAt	p.C484Y	SLC44A3_ENST00000446120.2_Missense_Mutation_p.C448Y|SLC44A3_ENST00000467909.1_Missense_Mutation_p.C436Y|SLC44A3_ENST00000527077.1_Missense_Mutation_p.C416Y|SLC44A3_ENST00000532427.1_Missense_Mutation_p.C404Y|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000529450.1_Missense_Mutation_p.C451Y	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	484	Cys-rich.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TGTTTCTGGTGTCTTGACAAA	0.488																																																	0													226.0	173.0	191.0					1																	95332942		2203	4300	6503	SO:0001583	missense	126969			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1451G>A	1.37:g.95332942G>A	ENSP00000271227:p.Cys484Tyr		B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.C484Y	ENST00000271227.6	37	c.1451	CCDS44176.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292792	0.40594	.	.	ENSG00000143036	ENST00000446120;ENST00000271227;ENST00000527077;ENST00000529450;ENST00000467909;ENST00000532427;ENST00000532670	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.95	2.83	0.33086	.	0.261873	0.34088	N	0.004261	T	0.29749	0.0743	M	0.90252	3.1	0.40900	D	0.984146	B;B;B;B;B	0.33103	0.004;0.397;0.004;0.004;0.004	B;B;B;B;B	0.42827	0.007;0.399;0.007;0.011;0.012	T	0.25710	-1.0124	10	0.66056	D	0.02	-3.2656	4.0463	0.09774	0.1514:0.1248:0.5956:0.1281	.	404;448;416;451;484	E9PIC5;Q8N4M1-3;E9PJY8;E9PJH2;Q8N4M1	.;.;.;.;CTL3_HUMAN	Y	448;484;416;451;436;404;19	ENSP00000389143:C448Y;ENSP00000271227:C484Y;ENSP00000433641:C416Y;ENSP00000431836:C451Y;ENSP00000432789:C436Y;ENSP00000436661:C404Y;ENSP00000432880:C19Y	ENSP00000271227:C484Y	C	+	2	0	SLC44A3	95105530	1.000000	0.71417	0.160000	0.22671	0.975000	0.68041	3.699000	0.54778	0.792000	0.33850	0.563000	0.77884	TGT	SLC44A3	-	pfam_Choline_transptr-like		0.488	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	G	NM_152369		95332942	+1	no_errors	ENST00000271227	ensembl	human	known	70_37	missense	SNP	1.000	A
SMAP1	60682	genome.wustl.edu	37	6	71377740	71377740	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:71377740C>G	ENST00000370455.3	+	1	262	c.14C>G	c.(13-15)tCc>tGc	p.S5C	SMAP1_ENST00000316999.5_Missense_Mutation_p.S5C|SMAP1_ENST00000370452.3_Missense_Mutation_p.S5C|SMAP1_ENST00000422334.2_Missense_Mutation_p.S5C	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	5					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GCGACGCGCTCCTGTCGGGAG	0.687																																																	0													37.0	33.0	34.0					6																	71377740		2200	4300	6500	SO:0001583	missense	60682			AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.14C>G	6.37:g.71377740C>G	ENSP00000359484:p.Ser5Cys		Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.S5C	ENST00000370455.3	37	c.14	CCDS43478.1	6	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205352	0.58234	.	.	ENSG00000112305	ENST00000370452;ENST00000316999;ENST00000370455;ENST00000422334	T;T;T;T	0.47869	2.11;2.15;1.77;0.83	5.28	4.42	0.53409	.	0.219735	0.41097	D	0.000956	T	0.57651	0.2068	M	0.73217	2.22	0.53688	D	0.999978	D;D;D	0.76494	0.993;0.993;0.999	P;P;D	0.73708	0.8;0.8;0.981	T	0.64373	-0.6423	10	0.66056	D	0.02	-5.3483	13.5364	0.61650	0.0:0.9234:0.0:0.0766	.	5;5;5	Q8IYB5-3;Q8IYB5-2;Q8IYB5	.;.;SMAP1_HUMAN	C	5	ENSP00000359481:S5C;ENSP00000313382:S5C;ENSP00000359484:S5C;ENSP00000398541:S5C	ENSP00000313382:S5C	S	+	2	0	SMAP1	71434461	1.000000	0.71417	0.965000	0.40720	0.013000	0.08279	7.067000	0.76741	1.230000	0.43646	-0.379000	0.06801	TCC	SMAP1	-	NULL		0.687	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAP1	HGNC	protein_coding	OTTHUMT00000041149.1	C	NM_001044305		71377740	+1	no_errors	ENST00000370455	ensembl	human	known	70_37	missense	SNP	1.000	G
SNHG14	104472715	genome.wustl.edu	37	15	25456838	25456838	+	RNA	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:25456838T>C	ENST00000424208.1	+	0	2469				SNHG14_ENST00000424333.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-24_ENST00000363528.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTGGTGCACTGAAGCTCAGG	0.622																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25456838T>C				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-		0.622	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	T			25456838	+1	no_errors	ENST00000424208	ensembl	human	known	70_37	rna	SNP	0.003	C
RILPL1	353116	genome.wustl.edu	37	12	123956417	123956417	+	3'UTR	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:123956417G>A	ENST00000376874.4	-	0	2115				SNRNP35_ENST00000527158.2_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1						epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		ACTCACAGCAGATTCCAAGGC	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	11066			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.*668C>T	12.37:g.123956417G>A			Q66K36|Q8N1M0	RNA	SNP	-	NULL	ENST00000376874.4	37	NULL	CCDS45006.1	12																																																																																			SNRNP35	-	-		0.438	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP35	HGNC	protein_coding	OTTHUMT00000400595.1	G	NM_178314		123956417	+1	no_errors	ENST00000527158	ensembl	human	known	70_37	rna	SNP	0.806	A
SORL1	6653	genome.wustl.edu	37	11	121367720	121367720	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:121367720C>G	ENST00000260197.7	+	6	1030	c.901C>G	c.(901-903)Cag>Gag	p.Q301E	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	301					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGAGATTTTCAGCTTCGGGA	0.428																																																	0													99.0	96.0	97.0					11																	121367720		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.901C>G	11.37:g.121367720C>G	ENSP00000260197:p.Gln301Glu		B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.Q301E	ENST00000260197.7	37	c.901	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646562	0.67358	.	.	ENSG00000137642	ENST00000260197	T	0.28895	1.59	5.7	5.7	0.88788	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	N	0.10916	0.065	0.80722	D	1	D	0.59767	0.986	D	0.69654	0.965	T	0.25152	-1.0140	10	0.21014	T	0.42	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	301	Q92673	SORL_HUMAN	E	301	ENSP00000260197:Q301E	ENSP00000260197:Q301E	Q	+	1	0	SORL1	120872930	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	5.836000	0.69375	2.683000	0.91414	0.655000	0.94253	CAG	SORL1	-	smart_VPS10		0.428	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121367720	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	1.000	G
SOS1	6654	genome.wustl.edu	37	2	39224138	39224138	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:39224138C>T	ENST00000426016.1	-	20	3092	c.3006G>A	c.(3004-3006)gaG>gaA	p.E1002E	SOS1_ENST00000395038.2_Silent_p.E1002E|SOS1_ENST00000402219.2_Silent_p.E1002E			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1002	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAAATTCCTTCTCCATGCTAT	0.299									Noonan syndrome																																								0													82.0	86.0	85.0					2																	39224138		2203	4299	6502	SO:0001819	synonymous_variant	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3006G>A	2.37:g.39224138C>T			A8K2G3|B4DXG2	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E1002	ENST00000426016.1	37	c.3006	CCDS1802.1	2																																																																																			SOS1	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.299	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39224138	-1	no_errors	ENST00000402219	ensembl	human	known	70_37	silent	SNP	0.994	T
SPAG17	200162	genome.wustl.edu	37	1	118550795	118550795	+	Missense_Mutation	SNP	G	G	T	rs200203535		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:118550795G>T	ENST00000336338.5	-	31	4524	c.4459C>A	c.(4459-4461)Cag>Aag	p.Q1487K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1487						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CACTTCACCTGCCTGGTGACA	0.488																																																	0													109.0	90.0	96.0					1																	118550795		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4459C>A	1.37:g.118550795G>T	ENSP00000337804:p.Gln1487Lys		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.Q1487K	ENST00000336338.5	37	c.4459	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940162	0.34283	.	.	ENSG00000155761	ENST00000336338	T	0.16073	2.37	5.53	5.53	0.82687	.	0.226336	0.43260	D	0.000599	T	0.05135	0.0137	L	0.39898	1.24	0.26016	N	0.981921	P	0.37731	0.607	B	0.32465	0.146	T	0.28839	-1.0031	10	0.16896	T	0.51	.	12.1664	0.54133	0.0:0.0:0.7282:0.2718	.	1487	Q6Q759	SPG17_HUMAN	K	1487	ENSP00000337804:Q1487K	ENSP00000337804:Q1487K	Q	-	1	0	SPAG17	118352318	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	4.584000	0.60971	2.763000	0.94921	0.563000	0.77884	CAG	SPAG17	-	NULL		0.488	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	G	NM_206996		118550795	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	1.000	T
SPAG5	10615	genome.wustl.edu	37	17	26905054	26905054	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26905054C>G	ENST00000321765.5	-	23	3816	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank|ALDOC_ENST00000226253.4_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1162					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ACAATGTCATCTAGTTTTTCT	0.418																																																	0													118.0	113.0	115.0					17																	26905054		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.3484G>C	17.37:g.26905054C>G	ENSP00000323300:p.Asp1162His		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.D1162H	ENST00000321765.5	37	c.3484	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	c	17.02	3.282789	0.59867	.	.	ENSG00000076382	ENST00000321765	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.68100	0.2964	L	0.36672	1.1	0.39502	D	0.968212	D	0.89917	1.0	D	0.91635	0.999	T	0.71279	-0.4640	9	0.87932	D	0	-12.3888	15.4374	0.75157	0.0:1.0:0.0:0.0	.	1162	Q96R06	SPAG5_HUMAN	H	1162	.	ENSP00000323300:D1162H	D	-	1	0	SPAG5	23929181	0.994000	0.37717	0.999000	0.59377	0.981000	0.71138	3.751000	0.55165	2.721000	0.93114	0.651000	0.88453	GAT	SPAG5	-	NULL		0.418	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	C	NM_006461		26905054	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.998	G
SPAG5	10615	genome.wustl.edu	37	17	26913181	26913181	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26913181G>C	ENST00000321765.5	-	6	1864	c.1532C>G	c.(1531-1533)tCt>tGt	p.S511C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	511	Interaction with KNSTRN.				chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGCTCTTTAGAGATAAGCAC	0.448																																																	0													59.0	57.0	58.0					17																	26913181		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1532C>G	17.37:g.26913181G>C	ENSP00000323300:p.Ser511Cys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S511C	ENST00000321765.5	37	c.1532	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302183	0.40694	.	.	ENSG00000076382	ENST00000321765;ENST00000536674	.	.	.	5.62	3.59	0.41128	.	0.316889	0.27768	N	0.017933	T	0.47710	0.1460	L	0.34521	1.04	0.21105	N	0.999782	D	0.89917	1.0	D	0.68943	0.961	T	0.27905	-1.0060	9	0.59425	D	0.04	-0.0016	7.9582	0.30055	0.0859:0.1599:0.7541:0.0	.	511	Q96R06	SPAG5_HUMAN	C	511;8	.	ENSP00000323300:S511C	S	-	2	0	SPAG5	23937308	0.997000	0.39634	0.102000	0.21198	0.555000	0.35460	2.958000	0.49145	0.710000	0.31997	0.655000	0.94253	TCT	SPAG5	-	NULL		0.448	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26913181	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.346	C
SPAG5	10615	genome.wustl.edu	37	17	26919090	26919090	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26919090G>A	ENST00000321765.5	-	3	1504	c.1172C>T	c.(1171-1173)tCa>tTa	p.S391L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	391					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGTGGTGCTGAAGGAGTAAA	0.537																																																	0													156.0	146.0	150.0					17																	26919090		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.1172C>T	17.37:g.26919090G>A	ENSP00000323300:p.Ser391Leu		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S391L	ENST00000321765.5	37	c.1172	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873220	0.33069	.	.	ENSG00000076382	ENST00000321765	T	0.43688	0.94	5.66	5.66	0.87406	.	0.101653	0.44483	D	0.000459	T	0.26919	0.0659	N	0.08118	0	0.27554	N	0.950411	B	0.26547	0.152	B	0.26416	0.069	T	0.26503	-1.0101	10	0.54805	T	0.06	-4.6886	15.2618	0.73628	0.0:0.0:1.0:0.0	.	391	Q96R06	SPAG5_HUMAN	L	391	ENSP00000323300:S391L	ENSP00000323300:S391L	S	-	2	0	SPAG5	23943217	0.994000	0.37717	0.540000	0.28089	0.027000	0.11550	1.856000	0.39389	2.671000	0.90904	0.655000	0.94253	TCA	SPAG5	-	NULL		0.537	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26919090	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.979	A
SPAG5	10615	genome.wustl.edu	37	17	26919933	26919933	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:26919933G>C	ENST00000321765.5	-	3	661	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	110					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTTAGGAGTAGAGCTAATTTG	0.443																																																	0													170.0	167.0	168.0					17																	26919933		2203	4300	6503	SO:0001583	missense	10615			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.329C>G	17.37:g.26919933G>C	ENSP00000323300:p.Ser110Cys		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.S110C	ENST00000321765.5	37	c.329	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	6.088	0.384470	0.11524	.	.	ENSG00000076382	ENST00000321765	T	0.26518	1.73	6.03	5.04	0.67666	.	0.114155	0.40385	N	0.001107	T	0.46908	0.1417	M	0.69823	2.125	0.35738	D	0.818472	D	0.89917	1.0	D	0.70935	0.971	T	0.60880	-0.7175	10	0.87932	D	0	-3.0842	9.8883	0.41274	0.0989:0.0:0.9011:0.0	.	110	Q96R06	SPAG5_HUMAN	C	110	ENSP00000323300:S110C	ENSP00000323300:S110C	S	-	2	0	SPAG5	23944060	1.000000	0.71417	0.924000	0.36721	0.226000	0.24999	1.460000	0.35244	1.469000	0.48083	0.655000	0.94253	TCT	SPAG5	-	NULL		0.443	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	G	NM_006461		26919933	-1	no_errors	ENST00000321765	ensembl	human	known	70_37	missense	SNP	0.999	C
SPATA31D1	389763	genome.wustl.edu	37	9	84606145	84606145	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:84606145G>A	ENST00000344803.2	+	4	807	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	254					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACATCACATTGAGAGAGTGGA	0.517																																																	0													255.0	236.0	242.0					9																	84606145		1923	4120	6043	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.760G>A	9.37:g.84606145G>A	ENSP00000341988:p.Glu254Lys			Missense_Mutation	SNP	NULL	p.E254K	ENST00000344803.2	37	c.760	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692978	0.15039	.	.	ENSG00000214929	ENST00000344803	T	0.05258	3.47	2.96	2.06	0.26882	.	1.877400	0.02681	N	0.109670	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.37220	-0.9715	10	0.11485	T	0.65	-0.0634	8.0876	0.30782	0.0:0.7451:0.2549:0.0	.	254	Q6ZQQ2	F75D1_HUMAN	K	254	ENSP00000341988:E254K	ENSP00000341988:E254K	E	+	1	0	FAM75D1	83795965	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.143000	0.16115	0.836000	0.34901	-0.140000	0.14226	GAG	SPATA31D1	-	NULL		0.517	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84606145	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.001	A
SPTBN5	51332	genome.wustl.edu	37	15	42179421	42179421	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:42179421C>T	ENST00000320955.6	-	6	1105	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	293					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTTAGTGAGTCTCCTCTGGAC	0.607																																																	0													27.0	34.0	32.0					15																	42179421		1727	3421	5148	SO:0001583	missense	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.878G>A	15.37:g.42179421C>T	ENSP00000317790:p.Arg293Lys			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R293K	ENST00000320955.6	37	c.878		15	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943780	0.92593	.	.	ENSG00000137877	ENST00000320955	T	0.76709	-1.04	4.49	4.49	0.54785	.	0.000000	0.64402	D	0.000004	D	0.87521	0.6198	M	0.74881	2.28	0.30074	N	0.809814	D	0.89917	1.0	D	0.83275	0.996	D	0.85547	0.1219	10	0.56958	D	0.05	.	16.805	0.85625	0.0:1.0:0.0:0.0	.	293	Q9NRC6	SPTN5_HUMAN	K	293	ENSP00000317790:R293K	ENSP00000317790:R293K	R	-	2	0	SPTBN5	39966713	1.000000	0.71417	0.733000	0.30861	0.955000	0.61496	4.607000	0.61133	2.053000	0.61076	0.591000	0.81541	AGA	SPTBN5	-	NULL		0.607	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42179421	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	missense	SNP	1.000	T
SREK1	140890	genome.wustl.edu	37	5	65440340	65440340	+	5'Flank	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr5:65440340G>C	ENST00000380918.3	+	0	0				AC025442.3_ENST00000521596.1_RNA|SREK1_ENST00000334121.6_Missense_Mutation_p.E46Q	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGGAGAAATCGAGGAGCTGCG	0.652																																					GBM(10;31 347 27684 38976 41583)												0													10.0	13.0	12.0					5																	65440340		1761	3922	5683	SO:0001631	upstream_gene_variant	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809		5.37:g.65440340G>C	Exception_encountered		A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E46Q	ENST00000380918.3	37	c.136	CCDS3991.1	5	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616569	0.87359	.	.	ENSG00000153914	ENST00000334121;ENST00000537482	T	0.18657	2.2	4.81	4.81	0.61882	.	0.115922	0.56097	D	0.000021	T	0.40222	0.1108	L	0.46947	1.48	0.80722	D	1	D;D	0.71674	0.998;0.993	D;D	0.67231	0.95;0.92	T	0.13202	-1.0518	10	0.56958	D	0.05	.	18.4336	0.90636	0.0:0.0:1.0:0.0	.	46;46	Q8WXA9-2;B3KRJ9	.;.	Q	46	ENSP00000334538:E46Q	ENSP00000334538:E46Q	E	+	1	0	SREK1	65476096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.721000	0.91446	2.663000	0.90544	0.655000	0.94253	GAG	SREK1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.652	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	G	NM_001077199		65440340	+1	no_errors	ENST00000334121	ensembl	human	known	70_37	missense	SNP	1.000	C
SRF	6722	genome.wustl.edu	37	6	43143632	43143632	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:43143632G>A	ENST00000265354.4	+	3	1327	c.969G>A	c.(967-969)ctG>ctA	p.L323L	SRF_ENST00000457278.2_Silent_p.L119L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	323					angiogenesis involved in wound healing (GO:0060055)|associative learning (GO:0008306)|cardiac myofibril assembly (GO:0055003)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular senescence (GO:0090398)|contractile actin filament bundle assembly (GO:0030038)|developmental growth (GO:0048589)|dorsal aorta morphogenesis (GO:0035912)|epithelial cell-cell adhesion (GO:0090136)|epithelial structure maintenance (GO:0010669)|erythrocyte development (GO:0048821)|eyelid development in camera-type eye (GO:0061029)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|hematopoietic stem cell differentiation (GO:0060218)|hippocampus development (GO:0021766)|long term synaptic depression (GO:0060292)|long-term memory (GO:0007616)|megakaryocyte development (GO:0035855)|mesoderm formation (GO:0001707)|morphogenesis of an epithelial sheet (GO:0002011)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|platelet formation (GO:0030220)|positive regulation of cell differentiation (GO:0045597)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription by glucose (GO:0046016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive thymic T cell selection (GO:0045059)|primitive streak formation (GO:0090009)|regulation of cell adhesion (GO:0030155)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of water loss via skin (GO:0033561)|response to cytokine (GO:0034097)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|sarcomere organization (GO:0045214)|skin morphogenesis (GO:0043589)|stress fiber assembly (GO:0043149)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|tight junction assembly (GO:0070830)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGACTGTGCTGAAGAGTACAG	0.602																																																	0													108.0	96.0	100.0					6																	43143632		2203	4300	6503	SO:0001819	synonymous_variant	6722			J03161	CCDS4889.1	6p	2008-02-05			ENSG00000112658	ENSG00000112658			11291	protein-coding gene	gene with protein product		600589				3203386	Standard	NM_003131		Approved	MCM1	uc003oui.3	P11831	OTTHUMG00000014722	ENST00000265354.4:c.969G>A	6.37:g.43143632G>A			Q5T648	Silent	SNP	pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.L323	ENST00000265354.4	37	c.969	CCDS4889.1	6																																																																																			SRF	-	NULL		0.602	SRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRF	HGNC	protein_coding	OTTHUMT00000040581.1	G	NM_003131		43143632	+1	no_errors	ENST00000265354	ensembl	human	known	70_37	silent	SNP	1.000	A
SRSF5	6430	genome.wustl.edu	37	14	70235952	70235952	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr14:70235952C>G	ENST00000553521.1	+	6	1803	c.350C>G	c.(349-351)tCa>tGa	p.S117*	SRSF5_ENST00000553635.1_Nonsense_Mutation_p.S114*|SRSF5_ENST00000554021.1_Nonsense_Mutation_p.S117*|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Nonsense_Mutation_p.S117*|SRSF5_ENST00000451983.2_Nonsense_Mutation_p.S117*|SRSF5_ENST00000394366.2_Nonsense_Mutation_p.S117*|SRSF5_ENST00000555349.1_Nonsense_Mutation_p.S117*			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	117	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AATTTATCCTCAAGAGTCAGC	0.333																																																	0													70.0	70.0	70.0					14																	70235952		2203	4300	6503	SO:0001587	stop_gained	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.350C>G	14.37:g.70235952C>G	ENSP00000452123:p.Ser117*		O14797|Q16662|Q49AD6|Q6FGE0	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S117*	ENST00000553521.1	37	c.350	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086910	0.76642	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.4584	0.94904	0.0:1.0:0.0:0.0	.	.	.	.	X	117;117;117;117;117;114;117;117	.	ENSP00000377892:S117X	S	+	2	0	SRSF5	69305705	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.725000	0.84808	2.581000	0.87130	0.655000	0.94253	TCA	SRSF5	-	NULL		0.333	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	C	NM_001039465		70235952	+1	no_errors	ENST00000451983	ensembl	human	known	70_37	nonsense	SNP	1.000	G
ST5	6764	genome.wustl.edu	37	11	8718078	8718078	+	Missense_Mutation	SNP	G	G	A	rs550462448	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:8718078G>A	ENST00000534127.1	-	21	3573	c.3188C>T	c.(3187-3189)tCt>tTt	p.S1063F	RP11-152H18.3_ENST00000529883.1_RNA|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530991.1_Missense_Mutation_p.S535F|ST5_ENST00000534278.1_Missense_Mutation_p.S254F|ST5_ENST00000526757.1_Missense_Mutation_p.S643F|ST5_ENST00000530438.1_Missense_Mutation_p.S643F|ST5_ENST00000313726.6_Missense_Mutation_p.S1063F|ST5_ENST00000526099.1_Missense_Mutation_p.S576F|ST5_ENST00000357665.1_Missense_Mutation_p.S1063F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1063	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGAGGCCACAGATTTGCGGAA	0.517																																																	0													153.0	165.0	161.0					11																	8718078		2201	4296	6497	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3188C>T	11.37:g.8718078G>A	ENSP00000433528:p.Ser1063Phe		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S1063F	ENST00000534127.1	37	c.3188	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	26.8	4.775468	0.90108	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000534278;ENST00000530438	T;T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	5.87	4.95	0.65309	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.65964	0.2742	M	0.61703	1.905	0.80722	D	1	D;D;D	0.76494	0.995;0.997;0.999	D;D;D	0.83275	0.974;0.976;0.996	T	0.67906	-0.5549	10	0.87932	D	0	-12.4058	15.4048	0.74868	0.0676:0.0:0.9324:0.0	.	576;643;1063	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	F	643;1063;1063;535;1063;576;254;643	ENSP00000435097:S643F;ENSP00000433528:S1063F;ENSP00000319678:S1063F;ENSP00000432887:S535F;ENSP00000350294:S1063F;ENSP00000436808:S576F;ENSP00000433349:S254F;ENSP00000436802:S643F	ENSP00000319678:S1063F	S	-	2	0	ST5	8674654	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.609000	0.82925	2.791000	0.96007	0.655000	0.94253	TCT	ST5	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.517	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	G	NM_005418		8718078	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	missense	SNP	1.000	A
ST6GALNAC3	256435	genome.wustl.edu	37	1	76540566	76540566	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:76540566G>A	ENST00000328299.3	+	1	163	c.15G>A	c.(13-15)ctG>ctA	p.L5L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	5					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CCTGCATCCTGAAGGTAACGA	0.692																																																	0													48.0	42.0	44.0					1																	76540566		2201	4295	6496	SO:0001819	synonymous_variant	256435				CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.15G>A	1.37:g.76540566G>A			Q6PCE0|Q6UX29|Q8N259	Silent	SNP	pfam_Glyco_trans_29	p.L5	ENST00000328299.3	37	c.15	CCDS672.1	1																																																																																			ST6GALNAC3	-	NULL		0.692	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC3	HGNC	protein_coding	OTTHUMT00000026501.1	G	NM_152996		76540566	+1	no_errors	ENST00000328299	ensembl	human	known	70_37	silent	SNP	1.000	A
STARD9	57519	genome.wustl.edu	37	15	42983444	42983444	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:42983444G>C	ENST00000290607.7	+	23	9725	c.9668G>C	c.(9667-9669)gGa>gCa	p.G3223A		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	3223					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TCAGGTGGTGGAGAAGGCTTC	0.542																																																	0													97.0	88.0	91.0					15																	42983444		692	1590	2282	SO:0001583	missense	57519			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.9668G>C	15.37:g.42983444G>C	ENSP00000290607:p.Gly3223Ala		Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G3223A	ENST00000290607.7	37	c.9668	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949592	0.53186	.	.	ENSG00000159433	ENST00000290607	T	0.70869	-0.52	4.75	1.54	0.23209	.	.	.	.	.	T	0.58438	0.2122	L	0.46157	1.445	0.09310	N	1	B	0.29378	0.243	B	0.27380	0.079	T	0.53634	-0.8411	9	0.62326	D	0.03	.	3.7774	0.08667	0.2083:0.0:0.5882:0.2036	.	3137	Q9P2P6	STAR9_HUMAN	A	3223	ENSP00000290607:G3223A	ENSP00000290607:G3223A	G	+	2	0	STARD9	40770736	0.002000	0.14202	0.001000	0.08648	0.062000	0.15995	1.019000	0.30014	0.603000	0.29913	0.563000	0.77884	GGA	STARD9	-	NULL		0.542	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	G			42983444	+1	no_errors	ENST00000290607	ensembl	human	known	70_37	missense	SNP	0.000	C
STAT4	6775	genome.wustl.edu	37	2	191922763	191922763	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:191922763G>C	ENST00000392320.2	-	13	1501	c.1187C>G	c.(1186-1188)tCa>tGa	p.S396*	STAT4_ENST00000358470.4_Nonsense_Mutation_p.S396*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	396					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAATTCTACTGAGAGACTCCC	0.358																																																	0													83.0	83.0	83.0					2																	191922763		2203	4300	6503	SO:0001587	stop_gained	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1187C>G	2.37:g.191922763G>C	ENSP00000376134:p.Ser396*		Q96NZ6	Nonsense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2	p.S396*	ENST00000392320.2	37	c.1187	CCDS2310.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.221380	0.98712	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-47.7257	19.5078	0.95127	0.0:0.0:1.0:0.0	.	.	.	.	X	396	.	ENSP00000351255:S396X	S	-	2	0	STAT4	191631008	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	9.061000	0.93913	2.694000	0.91930	0.585000	0.79938	TCA	STAT4	-	pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.358	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STAT4	HGNC	protein_coding	OTTHUMT00000335586.1	G	NM_003151		191922763	-1	no_errors	ENST00000358470	ensembl	human	known	70_37	nonsense	SNP	1.000	C
STK11	6794	genome.wustl.edu	37	19	1220443	1220443	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:1220443C>A	ENST00000326873.7	+	4	1709	c.536C>A	c.(535-537)cCg>cAg	p.P179Q		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.P179L(1)|p.K178fs*86(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GACATCAAGCCGGGGAACCTG	0.662		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	serine/threonine kinase 11 gene (LKB1)		"""E, M, O"""	30	Whole gene deletion(20)|Deletion - Frameshift(5)|Unknown(4)|Substitution - Missense(1)	cervix(15)|lung(10)|oesophagus(1)|ovary(1)|prostate(1)|kidney(1)|pancreas(1)											44.0	52.0	49.0					19																	1220443		2095	4239	6334	SO:0001583	missense	6794	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.536C>A	19.37:g.1220443C>A	ENSP00000324856:p.Pro179Gln		B2RBX7|E7EW76	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.P179Q	ENST00000326873.7	37	c.536	CCDS45896.1	19	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699891	0.68501	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.90069	-2.61	5.6	4.57	0.56435	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.99357	4.53	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98018	1.0369	10	0.87932	D	0	-24.0845	13.8611	0.63561	0.0:0.9262:0.0:0.0738	.	179	Q15831	STK11_HUMAN	Q	179	ENSP00000324856:P179Q	ENSP00000324856:P179Q	P	+	2	0	STK11	1171443	1.000000	0.71417	0.880000	0.34516	0.282000	0.26991	7.712000	0.84684	1.375000	0.46248	0.561000	0.74099	CCG	STK11	-	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		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STK11	HGNC	protein_coding	OTTHUMT00000449839.3	C	NM_000455		1220443	+1	no_errors	ENST00000326873	ensembl	human	known	70_37	missense	SNP	0.998	A
SUCLA2	8803	genome.wustl.edu	37	13	48562678	48562678	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr13:48562678G>A	ENST00000378654.3	-	4	588	c.532C>T	c.(532-534)Caa>Taa	p.Q178*	SUCLA2_ENST00000534875.1_Nonsense_Mutation_p.Q120*|SUCLA2_ENST00000543413.1_Nonsense_Mutation_p.Q120*|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_Nonsense_Mutation_p.Q44*	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	178	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TTACTCACTTGAAATGACCTT	0.333																																																	0													147.0	136.0	140.0					13																	48562678		2202	4298	6500	SO:0001587	stop_gained	8803			AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.532C>T	13.37:g.48562678G>A	ENSP00000367923:p.Gln178*		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Nonsense_Mutation	SNP	pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu	p.Q178*	ENST00000378654.3	37	c.532	CCDS9406.1	13	.	.	.	.	.	.	.	.	.	.	g	27.6	4.845545	0.91197	.	.	ENSG00000136143	ENST00000378654;ENST00000378645;ENST00000378642;ENST00000544100;ENST00000534875;ENST00000543413;ENST00000541732;ENST00000434484	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-9.8921	18.1696	0.89740	0.0:0.0:1.0:0.0	.	.	.	.	X	178;156;108;44;120;120;6;108	.	ENSP00000367909:Q108X	Q	-	1	0	SUCLA2	47460679	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.409000	0.80053	2.538000	0.85594	0.563000	0.77884	CAA	SUCLA2	-	pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu		0.333	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLA2	HGNC	protein_coding	OTTHUMT00000044852.1	G			48562678	-1	no_errors	ENST00000378654	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SYMPK	8189	genome.wustl.edu	37	19	46332236	46332236	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:46332236C>T	ENST00000245934.7	-	14	2221	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	659					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACCCATCCTTCTGGTCTGGTT	0.627																																																	0													54.0	56.0	55.0					19																	46332236		2203	4300	6503	SO:0001819	synonymous_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1977G>A	19.37:g.46332236C>T			O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.Q659	ENST00000245934.7	37	c.1977	CCDS12676.2	19																																																																																			SYMPK	-	superfamily_ARM-type_fold		0.627	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46332236	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	silent	SNP	1.000	T
SYNM	23336	genome.wustl.edu	37	15	99666966	99666966	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:99666966C>T	ENST00000560674.1	+	3	586	c.117C>T	c.(115-117)atC>atT	p.I39I	SYNM_ENST00000336292.6_Silent_p.I324I|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.I324I			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	325	Coil 1A.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGATAGTGATCTGGGCTGAGC	0.373																																					Pancreas(125;1071 1762 21750 40003 40381)												0													93.0	89.0	90.0					15																	99666966		1871	4092	5963	SO:0001819	synonymous_variant	23336			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.117C>T	15.37:g.99666966C>T			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	pfam_F	p.I324	ENST00000560674.1	37	c.972		15																																																																																			SYNM	-	NULL		0.373	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	C	NM_145728		99666966	+1	no_errors	ENST00000336292	ensembl	human	known	70_37	silent	SNP	0.684	T
SYT4	6860	genome.wustl.edu	37	18	40849933	40849933	+	3'UTR	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:40849933G>T	ENST00000255224.3	-	0	2019				SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV						exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ACAAGGCAAGGCATACTTTTC	0.294																																					NSCLC(85;81 1419 2855 22820 35912)												0																																										SO:0001624	3_prime_UTR_variant	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.*373C>A	18.37:g.40849933G>T			B4DEU3|Q9P2K4	RNA	SNP	-	NULL	ENST00000255224.3	37	NULL	CCDS11922.1	18																																																																																			SYT4	-	-		0.294	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	G	NM_020783		40849933	-1	no_errors	ENST00000586678	ensembl	human	known	70_37	rna	SNP	0.000	T
TANC2	26115	genome.wustl.edu	37	17	61278190	61278190	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:61278190C>G	ENST00000424789.2	+	5	423	c.419C>G	c.(418-420)tCt>tGt	p.S140C	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.S140C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	140					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGCACTGCCTCTCCACCAGCC	0.498																																																	0													146.0	150.0	149.0					17																	61278190		1999	4177	6176	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.419C>G	17.37:g.61278190C>G	ENSP00000387593:p.Ser140Cys		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S140C	ENST00000424789.2	37	c.419	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963494	0.92791	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.47177	0.85;0.85	5.75	5.75	0.90469	.	.	.	.	.	T	0.63534	0.2519	M	0.68593	2.085	0.58432	D	0.999999	P;P	0.43578	0.811;0.528	P;B	0.52217	0.693;0.243	T	0.64748	-0.6334	9	0.87932	D	0	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	140;140	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	C	140	ENSP00000374171:S140C;ENSP00000387593:S140C	ENSP00000374171:S140C	S	+	2	0	TANC2	58631922	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.717000	0.92951	0.585000	0.79938	TCT	TANC2	-	NULL		0.498	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	C			61278190	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	G
TAOK2	9344	genome.wustl.edu	37	16	29996797	29996797	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29996797G>A	ENST00000308893.4	+	14	2729	c.1686G>A	c.(1684-1686)cgG>cgA	p.R562R	TAOK2_ENST00000543033.1_Silent_p.R562R|TAOK2_ENST00000416441.2_Silent_p.R389R|TAOK2_ENST00000279394.3_Silent_p.R562R	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	562					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCGAGGAGCGGAAGTTCCAGC	0.637																																																	0													23.0	20.0	21.0					16																	29996797		2192	4299	6491	SO:0001819	synonymous_variant	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1686G>A	16.37:g.29996797G>A			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	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.R562	ENST00000308893.4	37	c.1686	CCDS10663.1	16																																																																																			TAOK2	-	NULL		0.637	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29996797	+1	no_errors	ENST00000308893	ensembl	human	known	70_37	silent	SNP	0.925	A
TAOK2	9344	genome.wustl.edu	37	16	29997038	29997038	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29997038G>C	ENST00000308893.4	+	15	2891	c.1848G>C	c.(1846-1848)caG>caC	p.Q616H	TAOK2_ENST00000543033.1_Missense_Mutation_p.Q616H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q443H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q616H	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	616					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGCTGCGGCAGAAGGAGCAGC	0.662																																																	0													13.0	15.0	14.0					16																	29997038		2191	4293	6484	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1848G>C	16.37:g.29997038G>C	ENSP00000310094:p.Gln616His		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.Q616H	ENST00000308893.4	37	c.1848	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943868	0.73672	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.37915	1.17;1.55;1.17	4.93	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.51618	0.1685	L	0.49350	1.555	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.999;0.987;0.978;0.995	D;D;D;P;D	0.85130	0.986;0.997;0.917;0.828;0.931	T	0.46414	-0.9193	9	.	.	.	.	12.6129	0.56560	0.0834:0.0:0.9166:0.0	.	807;443;616;616;616	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	H	616	ENSP00000310094:Q616H;ENSP00000440336:Q616H;ENSP00000279394:Q616H	.	Q	+	3	2	TAOK2	29904539	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.786000	0.75094	1.053000	0.40415	0.467000	0.42956	CAG	TAOK2	-	NULL		0.662	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29997038	+1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	C
TAOK2	9344	genome.wustl.edu	37	16	29998291	29998291	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:29998291G>C	ENST00000308893.4	+	16	3741	c.2698G>C	c.(2698-2700)Gag>Cag	p.E900Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.E787Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.E727Q|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	900	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TCCCGTCCCTGAGGAGGAGGA	0.612																																																	0													65.0	71.0	69.0					16																	29998291		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.2698G>C	16.37:g.29998291G>C	ENSP00000310094:p.Glu900Gln		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.E900Q	ENST00000308893.4	37	c.2698	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263294	0.39995	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.73575	-0.67;-0.76	3.67	3.67	0.42095	.	1.416870	0.04175	N	0.325428	T	0.68732	0.3033	N	0.14661	0.345	0.26380	N	0.976753	P;P;P	0.45827	0.675;0.867;0.675	B;P;B	0.47645	0.122;0.553;0.122	T	0.63129	-0.6706	9	.	.	.	.	13.3246	0.60452	0.0:0.0:1.0:0.0	.	1091;727;900	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	Q	900;787	ENSP00000310094:E900Q;ENSP00000440336:E787Q	.	E	+	1	0	TAOK2	29905792	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	3.384000	0.52478	2.353000	0.79882	0.563000	0.77884	GAG	TAOK2	-	NULL		0.612	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29998291	+1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	0.977	C
TAS1R2	80834	genome.wustl.edu	37	1	19180914	19180914	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:19180914G>A	ENST00000375371.3	-	3	1071	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	350					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TGGTCCTGCTGAGGGGTGGCG	0.637																																																	0													80.0	75.0	77.0					1																	19180914		2203	4300	6503	SO:0001819	synonymous_variant	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1050C>T	1.37:g.19180914G>A			Q5TZ19	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.L350	ENST00000375371.3	37	c.1050	CCDS187.1	1																																																																																			TAS1R2	-	pfam_ANF_lig-bd_rcpt		0.637	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	HGNC	protein_coding	OTTHUMT00000006953.1	G			19180914	-1	no_errors	ENST00000375371	ensembl	human	novel	70_37	silent	SNP	0.000	A
TARS2	80222	genome.wustl.edu	37	1	150477452	150477452	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:150477452G>C	ENST00000369064.3	+	16	1925	c.1891G>C	c.(1891-1893)Gag>Cag	p.E631Q	TARS2_ENST00000369054.2_Missense_Mutation_p.E501Q|TARS2_ENST00000606933.1_Missense_Mutation_p.E549Q	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	631					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ATACGCCAAAGAGGTAAGGAG	0.582																																																	0													86.0	81.0	83.0					1																	150477452		2203	4300	6503	SO:0001583	missense	80222			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1891G>C	1.37:g.150477452G>C	ENSP00000358060:p.Glu631Gln		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa	p.E631Q	ENST00000369064.3	37	c.1891	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	5.586	0.292889	0.10567	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	D;D;D	0.83335	-1.71;-1.71;-1.71	5.2	4.24	0.50183	Anticodon-binding (3);	0.130982	0.52532	N	0.000067	T	0.53594	0.1806	N	0.21240	0.645	0.80722	D	1	B;B;B	0.25667	0.131;0.059;0.019	B;B;B	0.24974	0.057;0.057;0.04	T	0.52719	-0.8538	10	0.21540	T	0.41	-21.7639	7.9208	0.29846	0.0863:0.2268:0.6869:0.0	.	501;356;631	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	Q	501;631;356;356	ENSP00000358050:E501Q;ENSP00000358060:E631Q;ENSP00000358047:E356Q	ENSP00000358047:E356Q	E	+	1	0	TARS2	148744076	0.129000	0.22400	0.996000	0.52242	0.056000	0.15407	0.473000	0.22132	1.292000	0.44672	0.655000	0.94253	GAG	TARS2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa		0.582	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	G	NM_025150		150477452	+1	no_errors	ENST00000369064	ensembl	human	known	70_37	missense	SNP	0.985	C
TBC1D17	79735	genome.wustl.edu	37	19	50381379	50381379	+	Intron	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:50381379C>T	ENST00000221543.5	+	2	320				AKT1S1_ENST00000391833.1_5'Flank|AKT1S1_ENST00000391834.2_5'Flank|AKT1S1_ENST00000482622.1_Intron|AKT1S1_ENST00000391831.1_5'Flank|AKT1S1_ENST00000344175.5_5'Flank|AKT1S1_ENST00000391835.1_5'Flank|AKT1S1_ENST00000391832.3_5'Flank|TBC1D17_ENST00000535102.2_Intron|TBC1D17_ENST00000598789.1_3'UTR	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17						autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCCAGCCCTCGCTGGTTCCC	0.667																																																	0													19.0	18.0	18.0					19																	50381379		2186	4277	6463	SO:0001627	intron_variant	79735			AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.22-21C>T	19.37:g.50381379C>T			B4DT12|B9A6L8|F5H1W7	RNA	SNP	-	NULL	ENST00000221543.5	37	NULL	CCDS12785.1	19																																																																																			TBC1D17	-	-		0.667	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D17	HGNC	protein_coding	OTTHUMT00000466404.1	C	NM_024682		50381379	+1	no_errors	ENST00000598789	ensembl	human	known	70_37	rna	SNP	0.001	T
TBC1D8	11138	genome.wustl.edu	37	2	101645967	101645967	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:101645967C>G	ENST00000376840.4	-	12	2162	c.2163G>C	c.(2161-2163)ttG>ttC	p.L721F	TBC1D8_ENST00000409318.1_Missense_Mutation_p.L736F			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	721					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TGAGGATCATCAAGGCCTGGC	0.587																																																	0													47.0	49.0	48.0					2																	101645967		2099	4231	6330	SO:0001583	missense	11138			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2163G>C	2.37:g.101645967C>G	ENSP00000366036:p.Leu721Phe		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L736F	ENST00000376840.4	37	c.2208	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158687	0.38119	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.30714	1.52;1.52	5.64	2.79	0.32731	Rab-GAP/TBC domain (1);	0.128712	0.32624	N	0.005843	T	0.31765	0.0807	L	0.51422	1.61	0.40897	D	0.984126	B	0.17465	0.022	B	0.20577	0.03	T	0.13764	-1.0497	10	0.49607	T	0.09	-12.0521	17.2508	0.87042	0.0:0.5266:0.4733:0.0	.	721	O95759	TBCD8_HUMAN	F	721;736	ENSP00000366036:L721F;ENSP00000386856:L736F	ENSP00000366036:L721F	L	-	3	2	TBC1D8	101012399	0.998000	0.40836	0.899000	0.35326	0.993000	0.82548	0.505000	0.22642	0.283000	0.22279	0.655000	0.94253	TTG	TBC1D8	-	superfamily_Rab-GTPase-TBC_dom		0.587	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	HGNC	protein_coding	OTTHUMT00000376092.1	C	NM_007063		101645967	-1	no_errors	ENST00000409318	ensembl	human	known	70_37	missense	SNP	0.999	G
TCEANC	170082	genome.wustl.edu	37	X	13682752	13682752	+	3'UTR	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:13682752C>G	ENST00000380600.1	+	0	2212				TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing						regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						TTCATGTTCTCAAGGACAAGT	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	170082				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.*1069C>G	X.37:g.13682752C>G			A6NI06|B2RDM3	RNA	SNP	-	NULL	ENST00000380600.1	37	NULL		X																																																																																			TCEANC	-	-		0.383	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	HGNC	protein_coding	OTTHUMT00000055796.1	C	NM_152634		13682752	+1	no_errors	ENST00000490617	ensembl	human	known	70_37	rna	SNP	0.001	G
TCF7L1	83439	genome.wustl.edu	37	2	85529687	85529687	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:85529687C>G	ENST00000282111.3	+	5	881	c.606C>G	c.(604-606)ttC>ttG	p.F202L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	202	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ATGACCACTTCTCCCCCGGCT	0.562																																																	0													101.0	102.0	102.0					2																	85529687		2203	4300	6503	SO:0001583	missense	83439			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.606C>G	2.37:g.85529687C>G	ENSP00000282111:p.Phe202Leu		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.F202L	ENST00000282111.3	37	c.606	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790421	0.50102	.	.	ENSG00000152284	ENST00000282111	D	0.98947	-5.26	4.53	1.69	0.24217	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.97269	0.9107	M	0.77103	2.36	0.34489	D	0.704727	B	0.28128	0.201	B	0.31245	0.126	D	0.97027	0.9747	10	0.41790	T	0.15	.	8.4826	0.33052	0.0:0.7264:0.0:0.2736	.	202	Q9HCS4	TF7L1_HUMAN	L	202	ENSP00000282111:F202L	ENSP00000282111:F202L	F	+	3	2	TCF7L1	85383198	0.984000	0.35163	1.000000	0.80357	0.949000	0.60115	2.431000	0.44775	0.529000	0.28599	-0.136000	0.14681	TTC	TCF7L1	-	pfam_CTNNB1-bd_N		0.562	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	C	NM_031283		85529687	+1	no_errors	ENST00000282111	ensembl	human	known	70_37	missense	SNP	1.000	G
TEX10	54881	genome.wustl.edu	37	9	103065971	103065971	+	Silent	SNP	G	G	A	rs191855673		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:103065971G>A	ENST00000374902.4	-	14	2795	c.2619C>T	c.(2617-2619)ctC>ctT	p.L873L	TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Silent_p.L857L	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	873						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGAGTCCTGAGGGGTGCAT	0.527																																																	0													175.0	168.0	171.0					9																	103065971		2203	4300	6503	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2619C>T	9.37:g.103065971G>A			B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L873	ENST00000374902.4	37	c.2619	CCDS6748.1	9																																																																																			TEX10	-	NULL		0.527	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	G	NM_017746		103065971	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	silent	SNP	0.896	A
TFF1	7031	genome.wustl.edu	37	21	43786545	43786545	+	Silent	SNP	G	G	T	rs142874600		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:43786545G>T	ENST00000291527.2	-	1	158	c.60C>A	c.(58-60)ctC>ctA	p.L20L		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	20					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|digestion (GO:0007586)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of cell proliferation (GO:0008285)|response to estradiol (GO:0032355)|response to iron ion (GO:0010039)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)		p.L20L(1)		cervix(1)|lung(1)	2						CCAGGGTGCCGAGGGCCAGCA	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											46.0	42.0	43.0					21																	43786545		2203	4300	6503	SO:0001819	synonymous_variant	7031			BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182			11755	protein-coding gene	gene with protein product		113710	"""breast cancer, estrogen-inducible sequence expressed in"""	BCEI		9043862	Standard	NM_003225		Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.60C>A	21.37:g.43786545G>T				Silent	SNP	pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,prints_P_trefoil_chordata	p.L20	ENST00000291527.2	37	c.60	CCDS13685.1	21																																																																																			TFF1	-	NULL		0.637	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFF1	HGNC	protein_coding	OTTHUMT00000195361.1	G	NM_003225		43786545	-1	no_errors	ENST00000291527	ensembl	human	known	70_37	silent	SNP	0.811	T
TFRC	7037	genome.wustl.edu	37	3	195799011	195799011	+	Silent	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:195799011T>C	ENST00000360110.4	-	5	616	c.447A>G	c.(445-447)gaA>gaG	p.E149E	TFRC_ENST00000420415.1_Silent_p.E68E|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_5'UTR|RNU7-18P_ENST00000516365.1_RNA|TFRC_ENST00000392396.3_Silent_p.E149E	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	149					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CATATGAATTTTCATTCAGCA	0.328			T	BCL6	NHL																																			Dom	yes		3	3q29	7037	"""transferrin receptor (p90, CD71)"""		L	0													67.0	67.0	67.0					3																	195799011		2203	4300	6503	SO:0001819	synonymous_variant	7037			X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.447A>G	3.37:g.195799011T>C			D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.E149	ENST00000360110.4	37	c.447	CCDS3312.1	3																																																																																			TFRC	-	NULL		0.328	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFRC	HGNC	protein_coding	OTTHUMT00000341346.1	T			195799011	-1	no_errors	ENST00000360110	ensembl	human	known	70_37	silent	SNP	0.100	C
TH	7054	genome.wustl.edu	37	11	2185559	2185559	+	Missense_Mutation	SNP	G	G	C	rs118175546	byFrequency	TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:2185559G>C	ENST00000381178.1	-	14	1509	c.1491C>G	c.(1489-1491)atC>atG	p.I497M	TH_ENST00000352909.3_Missense_Mutation_p.I466M|TH_ENST00000333684.5_Missense_Mutation_p.I376M|INS_ENST00000381330.4_5'Flank|TH_ENST00000381175.1_Missense_Mutation_p.I493M	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	497					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAGCACGTCGATGGCCAGCG	0.667																																																	0													72.0	62.0	65.0					11																	2185559		2201	4298	6499	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.1491C>G	11.37:g.2185559G>C	ENSP00000370571:p.Ile497Met		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.I497M	ENST00000381178.1	37	c.1491	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	G	10.83	1.460771	0.26248	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47	3.76	-4.76	0.03229	Aromatic amino acid hydroxylase, C-terminal (4);	0.211551	0.39083	N	0.001475	D	0.99336	0.9767	M	0.76574	2.34	0.26995	N	0.965044	P;D;D;P;P;P	0.56035	0.939;0.974;0.969;0.606;0.774;0.732	D;D;P;P;P;P	0.71656	0.974;0.93;0.906;0.487;0.785;0.679	D	0.99950	1.1537	10	0.72032	D	0.01	-5.9236	7.1682	0.25704	0.2476:0.5016:0.2508:0.0	.	470;376;372;466;497;493	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	M	497;493;466;376	ENSP00000370571:I497M;ENSP00000370567:I493M;ENSP00000325951:I466M;ENSP00000328814:I376M	ENSP00000328814:I376M	I	-	3	3	TH	2142135	0.009000	0.17119	0.239000	0.24122	0.049000	0.14656	-1.052000	0.03503	-1.163000	0.02793	-0.340000	0.08031	ATC	TH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase		0.667	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	G	NM_000360		2185559	-1	no_errors	ENST00000381178	ensembl	human	known	70_37	missense	SNP	0.819	C
TMC1	117531	genome.wustl.edu	37	9	75315537	75315537	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:75315537G>A	ENST00000297784.5	+	8	880	c.340G>A	c.(340-342)Gag>Aag	p.E114K	TMC1_ENST00000340019.3_Missense_Mutation_p.E114K|TMC1_ENST00000396237.3_Missense_Mutation_p.E114K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	114	Arg/Asp/Glu/Lys-rich (highly charged).				auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATGGAAGATGGAGAAGAAAAT	0.323																																					Pancreas(75;173 1345 14232 34245 43413)												0													90.0	92.0	91.0					9																	75315537		2203	4298	6501	SO:0001583	missense	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.340G>A	9.37:g.75315537G>A	ENSP00000297784:p.Glu114Lys		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.E114K	ENST00000297784.5	37	c.340	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	G	6.134	0.392922	0.11638	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000542143;ENST00000396237	T;T;T	0.14266	2.52;2.52;2.52	5.56	4.6	0.57074	.	0.200925	0.43260	D	0.000599	T	0.03827	0.0108	N	0.02539	-0.55	0.30853	N	0.734391	B	0.09022	0.002	B	0.08055	0.003	T	0.37798	-0.9690	10	0.06099	T	0.92	-19.1325	5.5472	0.17071	0.1583:0.1749:0.6668:0.0	.	114	Q8TDI8	TMC1_HUMAN	K	114;114;108;114	ENSP00000297784:E114K;ENSP00000341433:E114K;ENSP00000379538:E114K	ENSP00000297784:E114K	E	+	1	0	TMC1	74505357	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.665000	0.46791	2.771000	0.95319	0.563000	0.77884	GAG	TMC1	-	NULL		0.323	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	G			75315537	+1	no_errors	ENST00000297784	ensembl	human	known	70_37	missense	SNP	1.000	A
TMC3	342125	genome.wustl.edu	37	15	81635669	81635669	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr15:81635669G>A	ENST00000359440.5	-	15	1800	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Silent_p.F556F	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CAGCTATTTTGAATTCTCCAT	0.348																																																	0													105.0	102.0	103.0					15																	81635669		1828	4088	5916	SO:0001819	synonymous_variant	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1665C>T	15.37:g.81635669G>A				Silent	SNP	pfam_TMC	p.F555	ENST00000359440.5	37	c.1665	CCDS45324.1	15																																																																																			TMC3	-	pfam_TMC		0.348	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	G	NM_181841		81635669	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM225	338661	genome.wustl.edu	37	11	123755273	123755273	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:123755273C>T	ENST00000375026.2	-	2	468	c.252G>A	c.(250-252)ctG>ctA	p.L84L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	84					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATTTCATACCCAGGATTAAGT	0.423																																																	0													122.0	125.0	124.0					11																	123755273		2202	4299	6501	SO:0001819	synonymous_variant	338661			AY634366	CCDS31697.1	11q24.1	2014-06-13			ENSG00000204300	ENSG00000204300			32390	protein-coding gene	gene with protein product	"""PMP22 claudin domain containing"", ""protein phosphatase 1, regulatory subunit 154"""						Standard	XM_006718832		Approved	PMP22CD, PPP1R154	uc001pzi.3	Q6GV28	OTTHUMG00000165959	ENST00000375026.2:c.252G>A	11.37:g.123755273C>T				Silent	SNP	NULL	p.L84	ENST00000375026.2	37	c.252	CCDS31697.1	11																																																																																			TMEM225	-	NULL		0.423	TMEM225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM225	HGNC	protein_coding	OTTHUMT00000387260.1	C	NM_001013743		123755273	-1	no_errors	ENST00000375026	ensembl	human	known	70_37	silent	SNP	0.474	T
TMEM241	85019	genome.wustl.edu	37	18	20878009	20878009	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:20878009C>G	ENST00000383233.3	-	15	905	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	TMEM241_ENST00000450466.2_Intron|TMEM241_ENST00000542162.1_3'UTR|TMEM241_ENST00000475185.1_5'UTR	NM_032933.4	NP_116322.3	Q24JQ0	TM241_HUMAN	transmembrane protein 241	285						integral component of membrane (GO:0016021)											AGCAAGGCCTCTCCAAGCGCA	0.592																																																	0													75.0	80.0	78.0					18																	20878009		1997	4165	6162	SO:0001583	missense	85019			BC082984	CCDS11876.2	18q11.2	2011-11-25	2011-11-25	2011-11-25	ENSG00000134490	ENSG00000134490			31723	protein-coding gene	gene with protein product		615430	"""chromosome 18 open reading frame 45"""	C18orf45		12477932	Standard	NM_032933		Approved	MGC11386, FLJ44259	uc002kuf.3	Q24JQ0	OTTHUMG00000131771	ENST00000383233.3:c.853G>C	18.37:g.20878009C>G	ENSP00000372720:p.Glu285Gln		I0J130|Q6ZTS7|Q6ZW41	Missense_Mutation	SNP	NULL	p.E285Q	ENST00000383233.3	37	c.853	CCDS11876.2	18	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917269	0.73098	.	.	ENSG00000134490	ENST00000383233	T	0.69040	-0.37	5.24	4.36	0.52297	.	.	.	.	.	T	0.66944	0.2841	N	0.24115	0.695	0.80722	D	1	D	0.69078	0.997	P	0.62298	0.9	T	0.70396	-0.4883	9	0.72032	D	0.01	-9.3486	11.099	0.48163	0.1844:0.8156:0.0:0.0	.	285	Q24JQ0	CR045_HUMAN	Q	285	ENSP00000372720:E285Q	ENSP00000372720:E285Q	E	-	1	0	C18orf45	19132007	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	3.678000	0.54627	1.412000	0.46977	0.655000	0.94253	GAG	TMEM241	-	NULL		0.592	TMEM241-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM241	HGNC	protein_coding	OTTHUMT00000254702.3	C	NM_032933		20878009	-1	no_errors	ENST00000383233	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM52	339456	genome.wustl.edu	37	1	1849465	1849465	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:1849465C>G	ENST00000310991.3	-	5	493	c.486G>C	c.(484-486)aaG>aaC	p.K162N	TMEM52_ENST00000378602.3_Missense_Mutation_p.K147N	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	162						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTTGGCCATCTTGACAGCTT	0.642																																																	0													159.0	163.0	161.0					1																	1849465		2203	4300	6503	SO:0001583	missense	339456			AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.486G>C	1.37:g.1849465C>G	ENSP00000311122:p.Lys162Asn		Q4VXS6|Q6UX25	Missense_Mutation	SNP	NULL	p.K162N	ENST00000310991.3	37	c.486	CCDS35.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.85|13.85	2.359415|2.359415	0.41801|0.41801	.|.	.|.	ENSG00000178821|ENSG00000178821	ENST00000378602;ENST00000310991|ENST00000378598	T;T|.	0.35048|.	1.33;1.33|.	4.2|4.2	2.32|2.32	0.28847|0.28847	.|.	0.000000|.	0.48286|.	D|.	0.000197|.	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.47716|0.47716	1.5|1.5	0.32156|0.32156	N|N	0.583558|0.583558	D;D|.	0.76494|.	0.999;0.997|.	D;P|.	0.76575|.	0.988;0.871|.	T|T	0.56378|0.56378	-0.7989|-0.7989	10|6	0.56958|0.87932	D|D	0.05|0	-21.3956|-21.3956	6.7921|6.7921	0.23705|0.23705	0.0:0.6922:0.0:0.3078|0.0:0.6922:0.0:0.3078	.|.	162;147|.	Q8NDY8;Q8NDY8-2|.	TMM52_HUMAN;.|.	N|T	147;162|101	ENSP00000367865:K147N;ENSP00000311122:K162N|.	ENSP00000311122:K162N|ENSP00000367861:R101T	K|R	-|-	3|2	2|0	TMEM52|TMEM52	1839325|1839325	0.019000|0.019000	0.18553|0.18553	0.800000|0.800000	0.32199|0.32199	0.291000|0.291000	0.27294|0.27294	0.311000|0.311000	0.19380|0.19380	0.499000|0.499000	0.27970|0.27970	-0.224000|-0.224000	0.12420|0.12420	AAG|AGA	TMEM52	-	NULL		0.642	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM52	HGNC	protein_coding	OTTHUMT00000002781.1	C	NM_178545		1849465	-1	no_errors	ENST00000310991	ensembl	human	known	70_37	missense	SNP	0.972	G
TNFRSF10A	8797	genome.wustl.edu	37	8	23054708	23054708	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr8:23054708C>G	ENST00000221132.3	-	9	1088	c.1024G>C	c.(1024-1026)Gaa>Caa	p.E342Q		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	342					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CCTTCAGCTTCTGCCGGTCCC	0.557																																																	0													145.0	125.0	131.0					8																	23054708		2203	4300	6503	SO:0001583	missense	8797			U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.1024G>C	8.37:g.23054708C>G	ENSP00000221132:p.Glu342Gln		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	pirsf_TNFR_10,pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.E342Q	ENST00000221132.3	37	c.1024	CCDS6039.1	8	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384886	0.25031	.	.	ENSG00000104689	ENST00000221132	D	0.84070	-1.8	2.81	-2.66	0.06077	.	1.640880	0.03370	U	0.198776	T	0.81394	0.4813	L	0.61218	1.895	0.09310	N	1	D	0.59357	0.985	P	0.47206	0.541	T	0.69610	-0.5099	10	0.59425	D	0.04	.	3.6974	0.08369	0.0:0.3678:0.194:0.4383	.	342	O00220	TR10A_HUMAN	Q	342	ENSP00000221132:E342Q	ENSP00000221132:E342Q	E	-	1	0	TNFRSF10A	23110653	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.586000	0.05787	-0.835000	0.04234	0.491000	0.48974	GAA	TNFRSF10A	-	pirsf_TNFR_10		0.557	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF10A	HGNC	protein_coding	OTTHUMT00000215133.2	C	NM_003844		23054708	-1	no_errors	ENST00000221132	ensembl	human	known	70_37	missense	SNP	0.000	G
TNIP3	79931	genome.wustl.edu	37	4	122082365	122082365	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:122082365C>T	ENST00000509841.1	-	5	382	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	TNIP3_ENST00000454328.1_Missense_Mutation_p.E25K|TNIP3_ENST00000057513.3_Missense_Mutation_p.E25K|TNIP3_ENST00000507879.1_Missense_Mutation_p.E95K	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3											NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTGATGGTTCAGCACACTTA	0.338																																																	0													75.0	69.0	71.0					4																	122082365		2189	4293	6482	SO:0001583	missense	79931			AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.304G>A	4.37:g.122082365C>T	ENSP00000426613:p.Glu102Lys			Missense_Mutation	SNP	NULL	p.E25K	ENST00000509841.1	37	c.73	CCDS58926.1	4	.	.	.	.	.	.	.	.	.	.	C	7.822	0.718052	0.15372	.	.	ENSG00000050730	ENST00000057513;ENST00000454328;ENST00000507879;ENST00000509841	T;T;T;T	0.49432	0.93;0.93;0.79;0.78	4.77	0.803	0.18691	.	1.535050	0.03749	N	0.256213	T	0.42720	0.1215	L	0.36672	1.1	0.09310	N	0.999996	B;B;B	0.24426	0.103;0.103;0.103	B;B;B	0.28011	0.085;0.085;0.085	T	0.34378	-0.9831	10	0.11794	T	0.64	-0.739	14.9462	0.71032	0.0:0.5988:0.4012:0.0	.	95;25;25	B4DVF5;A5HU65;Q96KP6	.;.;TNIP3_HUMAN	K	25;25;95;102	ENSP00000057513:E25K;ENSP00000411817:E25K;ENSP00000427106:E95K;ENSP00000426613:E102K	ENSP00000057513:E25K	E	-	1	0	TNIP3	122301815	0.312000	0.24545	0.284000	0.24805	0.193000	0.23685	0.359000	0.20233	-0.016000	0.14127	-0.479000	0.04858	GAA	TNIP3	-	NULL		0.338	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	TNIP3	HGNC	protein_coding	OTTHUMT00000364000.4	C	NM_024873		122082365	-1	no_errors	ENST00000057513	ensembl	human	known	70_37	missense	SNP	0.560	T
TNRC6B	23112	genome.wustl.edu	37	22	40706860	40706860	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:40706860C>T	ENST00000454349.2	+	17	4509	c.4298C>T	c.(4297-4299)cCg>cTg	p.P1433L	TNRC6B_ENST00000301923.9_Missense_Mutation_p.P629L|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P629L|TNRC6B_ENST00000335727.9_Missense_Mutation_p.P1323L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1433	Silencing domain; interaction with CNOT1 and PAN3.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGAGGGTCACCGTACAACCAG	0.468																																																	0													49.0	47.0	47.0					22																	40706860		1861	4099	5960	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.4298C>T	22.37:g.40706860C>T	ENSP00000401946:p.Pro1433Leu		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P1433L	ENST00000454349.2	37	c.4298	CCDS54533.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.465310|5.465310	0.96257|0.96257	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T;T;T|.	0.34072|.	1.38;1.38;2.58;2.6|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.047866|.	0.85682|.	D|.	0.000000|.	T|T	0.74824|0.74824	0.3767|0.3767	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.994;0.998;0.998;0.996|.	T|T	0.70741|0.70741	-0.4789|-0.4789	10|5	0.72032|.	D|.	0.01|.	-6.69|-6.69	20.206|20.206	0.98277|0.98277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1433;1323;1323;629|.	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2|.	TNR6B_HUMAN;.;.;.|.	L|C	629;629;1433;1323;1323|1119	ENSP00000306759:P629L;ENSP00000384795:P629L;ENSP00000401946:P1433L;ENSP00000338371:P1323L|.	ENSP00000306759:P629L|.	P|R	+|+	2|1	0|0	TNRC6B|TNRC6B	39036806|39036806	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.974000|0.974000	0.67602|0.67602	7.213000|7.213000	0.77950|0.77950	2.785000|2.785000	0.95823|0.95823	0.655000|0.655000	0.94253|0.94253	CCG|CGT	TNRC6B	-	NULL		0.468	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		C			40706860	+1	no_errors	ENST00000454349	ensembl	human	known	70_37	missense	SNP	1.000	T
TRAF3IP1	26146	genome.wustl.edu	37	2	239306205	239306205	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:239306205C>T	ENST00000373327.4	+	16	2017	c.1795C>T	c.(1795-1797)Ccc>Tcc	p.P599S	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.P533S|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.P599S	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	599	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAGCGCACTTCCCCTGGGGAA	0.557																																																	0													99.0	92.0	94.0					2																	239306205		2203	4300	6503	SO:0001583	missense	26146			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1795C>T	2.37:g.239306205C>T	ENSP00000362424:p.Pro599Ser		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	pfam_Microtubule/TRAF3/DISC1-bd	p.P599S	ENST00000373327.4	37	c.1795	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060661	0.76074	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.46451	0.87;0.87;0.87	5.36	5.36	0.76844	.	0.329934	0.36932	N	0.002340	T	0.67785	0.2930	M	0.85462	2.755	0.51012	D	0.9999	D;D	0.76494	0.995;0.999	D;D	0.79784	0.963;0.993	T	0.72779	-0.4190	10	0.66056	D	0.02	-21.3806	14.8582	0.70359	0.1526:0.8474:0.0:0.0	.	533;599	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	S	533;599;599;533	ENSP00000375851:P533S;ENSP00000362424:P599S;ENSP00000375852:P599S	ENSP00000362424:P599S	P	+	1	0	TRAF3IP1	238970944	0.974000	0.33945	0.947000	0.38551	0.982000	0.71751	3.618000	0.54188	2.514000	0.84764	0.655000	0.94253	CCC	TRAF3IP1	-	pfam_Microtubule/TRAF3/DISC1-bd		0.557	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	C	NM_015650		239306205	+1	no_errors	ENST00000373327	ensembl	human	known	70_37	missense	SNP	0.930	T
TRUB2	26995	genome.wustl.edu	37	9	131071960	131071960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:131071960G>A	ENST00000372890.4	-	8	1198	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	TRUB2_ENST00000460320.1_5'Flank|TRUB2_ENST00000546104.1_Nonsense_Mutation_p.Q233*	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	289					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GCAGCTACCTGAGGGGTAGCA	0.652																																																	0													53.0	51.0	51.0					9																	131071960		2203	4300	6503	SO:0001587	stop_gained	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.865C>T	9.37:g.131071960G>A	ENSP00000361982:p.Gln289*		B7Z7G5	Nonsense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.Q289*	ENST00000372890.4	37	c.865	CCDS6897.1	9	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675417	0.88445	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	.	.	.	5.68	3.85	0.44370	.	0.296736	0.29594	N	0.011707	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-20.5685	10.6271	0.45514	0.0:0.1119:0.5714:0.3167	.	.	.	.	X	289;233	.	ENSP00000361982:Q289X	Q	-	1	0	TRUB2	130111781	1.000000	0.71417	0.986000	0.45419	0.386000	0.30323	3.358000	0.52284	0.753000	0.32945	0.561000	0.74099	CAG	TRUB2	-	superfamily_PsdUridine_synth_cat_dom		0.652	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	G	NM_015679		131071960	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	nonsense	SNP	0.993	A
TTC3	7267	genome.wustl.edu	37	21	38467758	38467758	+	Intron	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:38467758G>C	ENST00000399017.2	+	9	3529				TTC3_ENST00000354749.2_Intron|TTC3_ENST00000399010.1_Intron|TTC3_ENST00000479930.1_Intron|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Intron	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						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)				AGAGCAAATAGAACAAAAGAG	0.328																																					Ovarian(38;194 1649 35661)												0													54.0	58.0	56.0					21																	38467758		2203	4297	6500	SO:0001627	intron_variant	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.782+14G>C	21.37:g.38467758G>C			A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	RNA	SNP	-	NULL	ENST00000399017.2	37	NULL	CCDS13651.1	21																																																																																			TTC3	-	-		0.328	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G			38467758	+1	no_errors	ENST00000491952	ensembl	human	putative	70_37	rna	SNP	0.000	C
TTC36	143941	genome.wustl.edu	37	11	118399332	118399332	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:118399332C>G	ENST00000302783.4	+	2	156	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	TMEM25_ENST00000533102.1_5'Flank|TMEM25_ENST00000354284.4_5'Flank|RP11-770J1.3_ENST00000556583.1_RNA|TMEM25_ENST00000359862.4_5'Flank|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000411589.2_5'Flank|TMEM25_ENST00000544878.1_5'Flank|TMEM25_ENST00000313236.5_5'Flank|TMEM25_ENST00000354064.7_5'Flank|TMEM25_ENST00000524725.1_5'Flank|RP11-770J1.3_ENST00000554407.1_RNA|TTC36_ENST00000539546.1_5'UTR|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000442938.2_5'Flank	NM_001080441.1	NP_001073910.1	A6NLP5	TTC36_HUMAN	tetratricopeptide repeat domain 36	45										lung(2)	2						AGTTTTCCCTCAAGCACAGCT	0.572																																																	0													67.0	67.0	67.0					11																	118399332		2200	4295	6495	SO:0001583	missense	143941			EU489483	CCDS31687.1	11q23.3	2013-01-10			ENSG00000172425	ENSG00000172425		"""Tetratricopeptide (TTC) repeat domain containing"""	33708	protein-coding gene	gene with protein product	"""HSP70 binding protein 21"""						Standard	NM_001080441		Approved	HBP21	uc001ptg.1	A6NLP5	OTTHUMG00000166338	ENST00000302783.4:c.133C>G	11.37:g.118399332C>G	ENSP00000307640:p.Gln45Glu		B7ZW72|B9EJD8	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q45E	ENST00000302783.4	37	c.133	CCDS31687.1	11	.	.	.	.	.	.	.	.	.	.	C	2.925	-0.222288	0.06061	.	.	ENSG00000172425	ENST00000302783	T	0.27557	1.66	5.27	2.0	0.26442	.	0.426837	0.26642	N	0.023245	T	0.14917	0.0360	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17048	-1.0382	10	0.02654	T	1	1.2906	8.4816	0.33045	0.0:0.5947:0.2502:0.155	.	45	A6NLP5	TTC36_HUMAN	E	45	ENSP00000307640:Q45E	ENSP00000307640:Q45E	Q	+	1	0	TTC36	117904542	0.000000	0.05858	0.995000	0.50966	0.975000	0.68041	-0.648000	0.05391	0.568000	0.29311	0.561000	0.74099	CAA	TTC36	-	NULL		0.572	TTC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC36	HGNC	protein_coding	OTTHUMT00000389241.2	C	NM_001080441		118399332	+1	no_errors	ENST00000302783	ensembl	human	known	70_37	missense	SNP	0.998	G
TTF1	7270	genome.wustl.edu	37	9	135278098	135278098	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:135278098G>A	ENST00000334270.2	-	2	150	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	37	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AGGAGTCTCTGAAAATTTCGT	0.363																																																	0													73.0	78.0	76.0					9																	135278098		2193	4298	6491	SO:0001819	synonymous_variant	7270			BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.111C>T	9.37:g.135278098G>A			A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.F37	ENST00000334270.2	37	c.111	CCDS6948.1	9																																																																																			TTF1	-	NULL		0.363	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF1	HGNC	protein_coding	OTTHUMT00000054784.2	G	NM_007344		135278098	-1	no_errors	ENST00000334270	ensembl	human	known	70_37	silent	SNP	0.001	A
TTLL7	79739	genome.wustl.edu	37	1	84403639	84403639	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:84403639G>A	ENST00000260505.8	-	8	1161	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	262	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GTTTCATCCCGTTCAAAATGC	0.383																																																	0													257.0	222.0	234.0					1																	84403639		2203	4300	6503	SO:0001583	missense	79739			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.784C>T	1.37:g.84403639G>A	ENSP00000260505:p.Arg262Trp		Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R262W	ENST00000260505.8	37	c.784	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091968	0.76756	.	.	ENSG00000137941	ENST00000260505;ENST00000370703	T	0.06371	3.31	5.85	2.78	0.32641	.	0.000000	0.85682	D	0.000000	T	0.16981	0.0408	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02115	-1.1211	10	0.59425	D	0.04	.	15.4955	0.75646	0.0:0.0:0.6819:0.3181	.	262	Q6ZT98	TTLL7_HUMAN	W	262	ENSP00000260505:R262W	ENSP00000260505:R262W	R	-	1	2	TTLL7	84176227	1.000000	0.71417	0.996000	0.52242	0.889000	0.51656	5.043000	0.64208	0.277000	0.22141	0.655000	0.94253	CGG	TTLL7	-	pfam_Tub_tyr_ligase		0.383	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	G	NM_024686		84403639	-1	no_errors	ENST00000260505	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179410173	179410173	+	Silent	SNP	T	T	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:179410173T>C	ENST00000591111.1	-	294	90965	c.90741A>G	c.(90739-90741)gcA>gcG	p.A30247A	TTN_ENST00000460472.2_Silent_p.A22823A|TTN_ENST00000359218.5_Silent_p.A22948A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Silent_p.A31888A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.A29320A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.A23015A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30247	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTACCAGCTGCATTCACTG	0.478																																																	0													160.0	161.0	161.0					2																	179410173		2019	4175	6194	SO:0001819	synonymous_variant	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.90741A>G	2.37:g.179410173T>C			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	Silent	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.A29320	ENST00000591111.1	37	c.87960		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179410173	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	C
TUBGCP3	10426	genome.wustl.edu	37	13	113213684	113213684	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr13:113213684G>A	ENST00000261965.3	-	4	468	c.282C>T	c.(280-282)ctC>ctT	p.L94L	TUBGCP3_ENST00000375669.3_Silent_p.L94L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	94					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCAAGAGGTAGAGTATTGACC	0.458																																																	0													72.0	68.0	69.0					13																	113213684		2203	4300	6503	SO:0001819	synonymous_variant	10426			AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.282C>T	13.37:g.113213684G>A			O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Silent	SNP	pfam_Spc97_Spc98	p.L94	ENST00000261965.3	37	c.282	CCDS9525.1	13																																																																																			TUBGCP3	-	NULL		0.458	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP3	HGNC	protein_coding	OTTHUMT00000045825.2	G	NM_006322		113213684	-1	no_errors	ENST00000261965	ensembl	human	known	70_37	silent	SNP	1.000	A
TUBGCP6	85378	genome.wustl.edu	37	22	50664587	50664587	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr22:50664587G>C	ENST00000248846.5	-	9	1829	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	TUBGCP6_ENST00000439308.2_Silent_p.L575L|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	575					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTTGGAGATGAGCACGTAGC	0.552																																																	0													242.0	227.0	232.0					22																	50664587		2203	4300	6503	SO:0001819	synonymous_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1725C>G	22.37:g.50664587G>C			Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	pfam_Spc97_Spc98	p.L575	ENST00000248846.5	37	c.1725	CCDS14087.1	22																																																																																			TUBGCP6	-	pfam_Spc97_Spc98		0.552	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50664587	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	silent	SNP	1.000	C
UBE3C	9690	genome.wustl.edu	37	7	157023913	157023913	+	Silent	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr7:157023913C>T	ENST00000348165.5	+	18	2733	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	791	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACCAGGGGTTCTTTAAGACTA	0.463																																																	0													66.0	69.0	68.0					7																	157023913		2203	4300	6503	SO:0001819	synonymous_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2373C>T	7.37:g.157023913C>T			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.F791	ENST00000348165.5	37	c.2373	CCDS34789.1	7																																																																																			UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.463	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	C	NM_014671		157023913	+1	no_errors	ENST00000348165	ensembl	human	known	70_37	silent	SNP	1.000	T
UBR2	23304	genome.wustl.edu	37	6	42655973	42655973	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr6:42655973G>C	ENST00000372899.1	+	45	5131	c.4873G>C	c.(4873-4875)Gat>Cat	p.D1625H	UBR2_ENST00000372901.1_Missense_Mutation_p.D1625H|UBR2_ENST00000372883.3_3'UTR	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1625					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATCAGGTGGTGATAAGAGCAG	0.502																																																	0													157.0	149.0	151.0					6																	42655973		2203	4300	6503	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.4873G>C	6.37:g.42655973G>C	ENSP00000361990:p.Asp1625His		O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.D1625H	ENST00000372899.1	37	c.4873	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885617	0.91814	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.54866	0.55;0.55	5.68	5.68	0.88126	.	0.090377	0.64402	D	0.000001	T	0.68879	0.3049	M	0.76002	2.32	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.99	D;D;P	0.68353	0.957;0.937;0.895	T	0.68119	-0.5493	10	0.52906	T	0.07	-14.0453	20.148	0.98083	0.0:0.0:1.0:0.0	.	213;1625;1625	B3KXG6;Q8IWV8-4;Q8IWV8	.;.;UBR2_HUMAN	H	1625	ENSP00000361990:D1625H;ENSP00000361992:D1625H	ENSP00000361990:D1625H	D	+	1	0	UBR2	42763951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.751000	0.98889	2.834000	0.97654	0.655000	0.94253	GAT	UBR2	-	NULL		0.502	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42655973	+1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	C
UBXN10	127733	genome.wustl.edu	37	1	20517712	20517712	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:20517712G>A	ENST00000375099.3	+	2	742	c.658G>A	c.(658-660)Gat>Aat	p.D220N		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	220	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GCCAACAGATGATTTGCAAAC	0.488																																																	0													101.0	97.0	98.0					1																	20517712		2203	4300	6503	SO:0001583	missense	127733			AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.658G>A	1.37:g.20517712G>A	ENSP00000364240:p.Asp220Asn		Q5R386	Missense_Mutation	SNP	pfam_UBX,smart_UBX,pfscan_UBX	p.D220N	ENST00000375099.3	37	c.658	CCDS205.1	1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.349170	0.24426	.	.	ENSG00000162543	ENST00000375099	.	.	.	5.03	1.96	0.26148	UBX (3);	0.920555	0.09191	N	0.836063	T	0.17408	0.0418	N	0.12182	0.205	0.22762	N	0.998761	B	0.12630	0.006	B	0.12156	0.007	T	0.32188	-0.9916	9	0.10636	T	0.68	-10.3154	5.3722	0.16146	0.4754:0.0:0.5246:0.0	.	220	Q96LJ8	UBX10_HUMAN	N	220	.	ENSP00000364240:D220N	D	+	1	0	UBXN10	20390299	0.137000	0.22531	0.025000	0.17156	0.986000	0.74619	1.515000	0.35845	0.722000	0.32252	0.591000	0.81541	GAT	UBXN10	-	pfam_UBX,smart_UBX,pfscan_UBX		0.488	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN10	HGNC	protein_coding	OTTHUMT00000007693.1	G	NM_152376		20517712	+1	no_errors	ENST00000375099	ensembl	human	known	70_37	missense	SNP	0.526	A
UEVLD	55293	genome.wustl.edu	37	11	18558012	18558012	+	Silent	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:18558012G>C	ENST00000396197.3	-	10	1093	c.1065C>G	c.(1063-1065)ctC>ctG	p.L355L	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000379387.4_Silent_p.L333L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000543987.1_Silent_p.L355L|UEVLD_ENST00000535484.1_Silent_p.L317L|UEVLD_ENST00000320750.6_Silent_p.L333L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CACTCCATGTGAGCACTAAAA	0.388																																																	0													146.0	136.0	139.0					11																	18558012		2199	4293	6492	SO:0001819	synonymous_variant	55293			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1065C>G	11.37:g.18558012G>C				Silent	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.L355	ENST00000396197.3	37	c.1065	CCDS41624.1	11																																																																																			UEVLD	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH		0.388	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395923.2	G	NM_018314		18558012	-1	no_errors	ENST00000396197	ensembl	human	known	70_37	silent	SNP	0.053	C
UNC45B	146862	genome.wustl.edu	37	17	33476026	33476026	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr17:33476026G>C	ENST00000268876.5	+	3	300	c.203G>C	c.(202-204)aGa>aCa	p.R68T	UNC45B_ENST00000591048.1_Missense_Mutation_p.R68T|UNC45B_ENST00000378449.1_Missense_Mutation_p.R68T|UNC45B_ENST00000394570.2_Missense_Mutation_p.R68T|UNC45B_ENST00000433649.1_Missense_Mutation_p.R68T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	68					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GATGCCTCCAGAGGTGAGCCC	0.537																																																	0													132.0	112.0	119.0					17																	33476026		2203	4300	6503	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.203G>C	17.37:g.33476026G>C	ENSP00000268876:p.Arg68Thr		Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R68T	ENST00000268876.5	37	c.203	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364235	0.41902	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.59	0.412	0.16397	Tetratricopeptide repeat-containing (1);	0.305893	0.39146	N	0.001460	T	0.30727	0.0774	N	0.11154	0.105	0.38373	D	0.944915	B;B;B	0.28584	0.216;0.001;0.001	B;B;B	0.26517	0.07;0.006;0.009	T	0.06144	-1.0843	10	0.46703	T	0.11	-0.1358	5.3958	0.16268	0.3129:0.151:0.5361:0.0	.	68;68;68	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	T	68	ENSP00000378071:R68T;ENSP00000268876:R68T;ENSP00000412840:R68T;ENSP00000367710:R68T	ENSP00000268876:R68T	R	+	2	0	UNC45B	30500139	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	2.868000	0.48436	0.191000	0.20236	0.561000	0.74099	AGA	UNC45B	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.537	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	G	NM_173167		33476026	+1	no_errors	ENST00000268876	ensembl	human	known	70_37	missense	SNP	1.000	C
UNC80	285175	genome.wustl.edu	37	2	210856956	210856956	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr2:210856956G>C	ENST00000439458.1	+	61	9263	c.9183G>C	c.(9181-9183)aaG>aaC	p.K3061N	UNC80_ENST00000272845.6_Missense_Mutation_p.K3037N	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	3061					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGGGGAGGAAGAGGGGCCTGA	0.488																																																	0													74.0	84.0	81.0					2																	210856956		692	1591	2283	SO:0001583	missense	285175			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.9183G>C	2.37:g.210856956G>C	ENSP00000391088:p.Lys3061Asn		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.K3061N	ENST00000439458.1	37	c.9183	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597347	0.66332	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.41758	1.01;0.99	6.06	4.28	0.50868	.	.	.	.	.	T	0.48804	0.1520	L	0.27053	0.805	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.49184	-0.8966	9	0.66056	D	0.02	.	10.855	0.46794	0.2003:0.0:0.7997:0.0	.	3037;3061	C9J1U3;Q8N2C7	.;UNC80_HUMAN	N	3061;3037	ENSP00000391088:K3061N;ENSP00000272845:K3037N	ENSP00000272845:K3037N	K	+	3	2	UNC80	210565201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.792000	0.38754	0.910000	0.36722	0.655000	0.94253	AAG	UNC80	-	NULL		0.488	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		G	NM_182587		210856956	+1	no_errors	ENST00000439458	ensembl	human	known	70_37	missense	SNP	1.000	C
UPK1A	11045	genome.wustl.edu	37	19	36164426	36164426	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:36164426C>G	ENST00000222275.2	+	4	447	c.447C>G	c.(445-447)ctC>ctG	p.L149L	UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Silent_p.L149L	NM_007000.2	NP_008931.1	O00322	UPK1A_HUMAN	uroplakin 1A	149					epithelial cell differentiation (GO:0030855)|protein oligomerization (GO:0051259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	monosaccharide binding (GO:0048029)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACCCGCCTCTGGGACCGCG	0.647																																																	0													24.0	26.0	26.0					19																	36164426		2190	4282	6472	SO:0001819	synonymous_variant	11045			AF085807	CCDS12470.1, CCDS62640.1	19q13.1	2013-02-14			ENSG00000105668	ENSG00000105668		"""Tetraspanins"""	12577	protein-coding gene	gene with protein product		611557				9846985, 10404304	Standard	NM_007000		Approved	TSPAN21	uc002oaw.3	O00322	OTTHUMG00000048115	ENST00000222275.2:c.447C>G	19.37:g.36164426C>G			Q3KNU5|Q3KNU6	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L149	ENST00000222275.2	37	c.447	CCDS12470.1	19																																																																																			UPK1A	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.647	UPK1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK1A	HGNC	protein_coding	OTTHUMT00000109486.3	C			36164426	+1	no_errors	ENST00000379013	ensembl	human	known	70_37	silent	SNP	0.996	G
USP35	57558	genome.wustl.edu	37	11	77924696	77924698	+	In_Frame_Del	DEL	AGG	AGG	-	rs372492472|rs527938491		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:77924696_77924698delAGG	ENST00000529308.1	+	11	3155_3157	c.2894_2896delAGG	c.(2893-2898)caggag>cag	p.E966del	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_In_Frame_Del_p.E697del|USP35_ENST00000441408.2_In_Frame_Del_p.E552del|USP35_ENST00000530267.1_In_Frame_Del_p.E534del	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	966					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TCCCAGGAGCAGGAGAAGGAGGC	0.547																																																	0																																										SO:0001651	inframe_deletion	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2894_2896delAGG	11.37:g.77924696_77924698delAGG	ENSP00000431876:p.Glu966del			In_Frame_Del	DEL	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E966in_frame_del	ENST00000529308.1	37	c.2894_2896	CCDS41693.1	11																																																																																			USP35	-	NULL		0.547	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	AGG	XM_290527		77924698	+1	no_errors	ENST00000529308	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
VCAM1	7412	genome.wustl.edu	37	1	101194865	101194865	+	Silent	SNP	C	C	T	rs372051353		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:101194865C>T	ENST00000294728.2	+	5	1232	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Silent_p.N315N|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	377	Ig-like C2-type 4.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTTTTGAGAACGAACACTCTT	0.493																																																	0								C	,,	0,4406		0,0,2203	115.0	120.0	118.0		1131,945,	-6.6	0.1	1		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,intron	VCAM1	NM_001078.3,NM_001199834.1,NM_080682.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	377/740,315/678,	101194865	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1131C>T	1.37:g.101194865C>T			A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_VCAM-1,prints_ICAM_VCAM_N	p.N377	ENST00000294728.2	37	c.1131	CCDS773.1	1																																																																																			VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.493	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	C	NM_001078		101194865	+1	no_errors	ENST00000294728	ensembl	human	known	70_37	silent	SNP	0.235	T
VEGFC	7424	genome.wustl.edu	37	4	177605154	177605154	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr4:177605154C>T	ENST00000280193.2	-	7	1601	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	396					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AATCCTGGCTCACAAGCCTTC	0.418																																																	0													117.0	109.0	112.0					4																	177605154		1917	4137	6054	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1186G>A	4.37:g.177605154C>T	ENSP00000280193:p.Glu396Lys		B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.E396K	ENST00000280193.2	37	c.1186	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	C	12.15	1.851667	0.32699	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.57	5.57	0.84162	.	0.392921	0.28431	N	0.015369	T	0.51126	0.1656	L	0.27053	0.805	0.45867	D	0.998723	B	0.16166	0.016	B	0.17979	0.02	T	0.44711	-0.9310	9	0.13108	T	0.6	-7.4628	19.9225	0.97093	0.0:1.0:0.0:0.0	.	396	P49767	VEGFC_HUMAN	K	396	.	ENSP00000280193:E396K	E	-	1	0	VEGFC	177842148	1.000000	0.71417	0.991000	0.47740	0.225000	0.24961	5.065000	0.64344	2.780000	0.95670	0.655000	0.94253	GAG	VEGFC	-	NULL		0.418	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	C	NM_005429		177605154	-1	no_errors	ENST00000280193	ensembl	human	known	70_37	missense	SNP	1.000	T
VEPH1	79674	genome.wustl.edu	37	3	157146182	157146182	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:157146182G>C	ENST00000362010.2	-	5	932	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392833.2_Missense_Mutation_p.Q209E|VEPH1_ENST00000392832.2_Missense_Mutation_p.Q209E|VEPH1_ENST00000543418.1_Missense_Mutation_p.Q209E	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	209						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGTTCCAGCTGAGACATCAAG	0.433																																																	0													196.0	177.0	184.0					3																	157146182		2203	4300	6503	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.625C>G	3.37:g.157146182G>C	ENSP00000354919:p.Gln209Glu		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q209E	ENST00000362010.2	37	c.625	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090388	0.36855	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987	T;T;T;T;T	0.43294	1.3;1.3;1.3;1.3;0.95	5.57	4.67	0.58626	.	0.181068	0.51477	D	0.000100	T	0.35008	0.0917	L	0.46157	1.445	0.80722	D	1	B;B	0.19200	0.034;0.02	B;B	0.24394	0.053;0.024	T	0.09907	-1.0653	10	0.23891	T	0.37	-10.0022	10.8583	0.46812	0.0707:0.1313:0.798:0.0	.	209;209	Q14D04-2;Q14D04	.;MELT_HUMAN	E	209;209;209;209;97	ENSP00000376578:Q209E;ENSP00000354919:Q209E;ENSP00000446258:Q209E;ENSP00000376577:Q209E;ENSP00000418963:Q97E	ENSP00000354919:Q209E	Q	-	1	0	VEPH1	158628876	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	3.222000	0.51223	2.599000	0.87857	0.650000	0.86243	CAG	VEPH1	-	superfamily_ARM-type_fold		0.433	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	G	NM_024621		157146182	-1	no_errors	ENST00000362010	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS13A	23230	genome.wustl.edu	37	9	79929019	79929019	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:79929019G>A	ENST00000360280.3	+	36	4486	c.4226G>A	c.(4225-4227)aGt>aAt	p.S1409N	VPS13A_ENST00000376636.3_Missense_Mutation_p.S1370N|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1409N|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1409N|VPS13A_ENST00000423463.2_3'UTR	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1409					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGCTGTATAGTCCAGGTCCT	0.358																																																	0													108.0	83.0	91.0					9																	79929019		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4226G>A	9.37:g.79929019G>A	ENSP00000353422:p.Ser1409Asn		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.S1409N	ENST00000360280.3	37	c.4226	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250298	0.39797	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.46063	1.05;0.88;0.96;1.05	5.44	5.44	0.79542	.	0.166803	0.50627	D	0.000112	T	0.48768	0.1518	L	0.28556	0.865	0.80722	D	1	B;D;D;D	0.76494	0.097;0.998;0.999;0.997	B;P;D;P	0.65233	0.061;0.859;0.933;0.881	T	0.20140	-1.0284	10	0.07482	T	0.82	.	19.2332	0.93847	0.0:0.0:1.0:0.0	.	1370;1409;1409;1409	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	N	1409;1370;1409;1409	ENSP00000365821:S1409N;ENSP00000365823:S1370N;ENSP00000353422:S1409N;ENSP00000349985:S1409N	ENSP00000349985:S1409N	S	+	2	0	VPS13A	79118839	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.314000	0.65804	2.708000	0.92522	0.650000	0.86243	AGT	VPS13A	-	NULL		0.358	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	G	NM_015186		79929019	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	A
VSX1	30813	genome.wustl.edu	37	20	25060148	25060148	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:25060148C>G	ENST00000376709.4	-	2	690	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	VSX1_ENST00000451258.1_Missense_Mutation_p.E143Q|VSX1_ENST00000424574.1_Missense_Mutation_p.E143Q|VSX1_ENST00000444511.2_Missense_Mutation_p.E143Q|VSX1_ENST00000429762.3_Missense_Mutation_p.E143Q|VSX1_ENST00000376707.3_Missense_Mutation_p.E143Q	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	143	Asp/Glu-rich (acidic).				neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGCTGTCCTCATCTGATGGC	0.498																																																	0													58.0	46.0	50.0					20																	25060148		2203	4300	6503	SO:0001583	missense	30813			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.427G>C	20.37:g.25060148C>G	ENSP00000365899:p.Glu143Gln		B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E143Q	ENST00000376709.4	37	c.427	CCDS13168.1	20	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932837	0.73442	.	.	ENSG00000100987	ENST00000429762;ENST00000444511;ENST00000424574;ENST00000451258;ENST00000376709;ENST00000376707	D;D;D;D;D;D	0.93859	-3.01;-3.3;-2.98;-3.16;-3.12;-3.22	5.01	5.01	0.66863	.	0.276758	0.40302	N	0.001134	D	0.94532	0.8239	L	0.48642	1.525	0.80722	D	1	D;D;D;P	0.65815	0.982;0.995;0.993;0.952	P;P;P;P	0.62089	0.713;0.862;0.898;0.521	D	0.93239	0.6624	10	0.32370	T	0.25	.	17.0594	0.86543	0.0:1.0:0.0:0.0	.	143;143;143;143	Q9NZR4-7;Q9NZR4-8;Q9NZR4-2;Q9NZR4	.;.;.;VSX1_HUMAN	Q	143	ENSP00000401690:E143Q;ENSP00000387720:E143Q;ENSP00000399496:E143Q;ENSP00000389654:E143Q;ENSP00000365899:E143Q;ENSP00000365897:E143Q	ENSP00000365897:E143Q	E	-	1	0	VSX1	25008148	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	2.885000	0.48570	2.599000	0.87857	0.462000	0.41574	GAG	VSX1	-	NULL		0.498	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSX1	HGNC	protein_coding	OTTHUMT00000078384.3	C			25060148	-1	no_errors	ENST00000376709	ensembl	human	known	70_37	missense	SNP	1.000	G
WSCD2	9671	genome.wustl.edu	37	12	108634216	108634216	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr12:108634216G>A	ENST00000332082.4	+	9	2058	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T	WSCD2_ENST00000547525.1_Missense_Mutation_p.A414T|WSCD2_ENST00000261400.3_Missense_Mutation_p.A414T|WSCD2_ENST00000549903.1_Missense_Mutation_p.A414T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	414						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTTCGACGCCGCCATCCTGCT	0.607																																																	0													107.0	116.0	113.0					12																	108634216		2041	4197	6238	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1240G>A	12.37:g.108634216G>A	ENSP00000331933:p.Ala414Thr		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.A414T	ENST00000332082.4	37	c.1240	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119676	0.77323	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.36699	1.24;4.64;1.24;4.64	4.9	4.9	0.64082	.	0.097747	0.64402	D	0.000001	T	0.44008	0.1273	M	0.80028	2.48	0.58432	D	0.99999	P;P	0.43352	0.804;0.571	B;B	0.38156	0.266;0.078	T	0.57046	-0.7878	10	0.72032	D	0.01	-38.815	17.3052	0.87192	0.0:0.0:1.0:0.0	.	414;414	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	T	414	ENSP00000448047:A414T;ENSP00000261400:A414T;ENSP00000331933:A414T;ENSP00000447272:A414T	ENSP00000261400:A414T	A	+	1	0	WSCD2	107158346	1.000000	0.71417	0.956000	0.39512	0.968000	0.65278	5.793000	0.69060	2.551000	0.86045	0.644000	0.83932	GCC	WSCD2	-	NULL		0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	G	NM_014653		108634216	+1	no_errors	ENST00000261400	ensembl	human	known	70_37	missense	SNP	0.994	A
WT1-AS	51352	genome.wustl.edu	37	11	32462761	32462761	+	RNA	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:32462761G>C	ENST00000395900.1	+	0	3639				WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						GAGTGAGGAAGAGGAATGGAC	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.32462761G>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		32462761	+1	no_errors	ENST00000395900	ensembl	human	known	70_37	rna	SNP	0.019	C
WWC3	55841	genome.wustl.edu	37	X	10085617	10085617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:10085617delG	ENST00000380861.4	+	11	1909	c.1518delG	c.(1516-1518)atgfs	p.M506fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	506					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(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCGGCTATGGGGGACGAAG	0.721																																																	0													6.0	7.0	7.0					X																	10085617		2130	4182	6312	SO:0001589	frameshift_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1518delG	X.37:g.10085617delG	ENSP00000370242:p.Met506fs		A8KA96|Q659C1|Q9BTQ1	Frame_Shift_Del	DEL	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D508fs	ENST00000380861.4	37	c.1518	CCDS14136.1	X																																																																																			WWC3	-	NULL		0.721	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	G	NM_015691		10085617	+1	no_errors	ENST00000380861	ensembl	human	known	70_37	frame_shift_del	DEL	0.908	-
YBEY	54059	genome.wustl.edu	37	21	47711284	47711284	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr21:47711284C>G	ENST00000329319.3	+	3	645	c.247C>G	c.(247-249)Cca>Gca	p.P83A	YBEY_ENST00000339195.6_Intron|YBEY_ENST00000397691.1_Missense_Mutation_p.P83A|YBEY_ENST00000397694.1_Missense_Mutation_p.P38A|YBEY_ENST00000397701.4_Missense_Mutation_p.P83A|YBEY_ENST00000397692.1_Intron	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	83					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						GCCTGATTTTCCAGATGACTA	0.413																																																	0													97.0	96.0	96.0					21																	47711284		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.247C>G	21.37:g.47711284C>G	ENSP00000329614:p.Pro83Ala		B7WPA9|B7WPF7|D3DSN2	Missense_Mutation	SNP	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd	p.P83A	ENST00000329319.3	37	c.247	CCDS33591.1	21	.	.	.	.	.	.	.	.	.	.	C	3.460	-0.110186	0.06924	.	.	ENSG00000182362	ENST00000397701;ENST00000397694;ENST00000329319;ENST00000397691	.	.	.	4.96	4.96	0.65561	Metalloprotease catalytic domain, predicted (1);	0.510139	0.20059	N	0.100138	T	0.39253	0.1071	L	0.42686	1.345	0.09310	N	0.999999	B;B;B	0.23249	0.017;0.035;0.082	B;B;B	0.24701	0.007;0.018;0.055	T	0.18935	-1.0321	9	0.23302	T	0.38	-18.6302	11.3524	0.49596	0.0:0.9153:0.0:0.0847	.	38;83;83	P58557-3;P58557;Q8TBC8	.;YBEY_HUMAN;.	A	83;38;83;83	.	ENSP00000329614:P83A	P	+	1	0	YBEY	46535712	0.943000	0.32029	0.014000	0.15608	0.280000	0.26924	2.531000	0.45650	2.268000	0.75426	0.407000	0.27541	CCA	YBEY	-	pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd		0.413	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBEY	HGNC	protein_coding	OTTHUMT00000207265.1	C	NM_058181		47711284	+1	no_errors	ENST00000329319	ensembl	human	known	70_37	missense	SNP	0.209	G
YY2	404281	genome.wustl.edu	37	X	21875258	21875258	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chrX:21875258T>A	ENST00000429584.2	+	1	1154	c.656T>A	c.(655-657)cTt>cAt	p.L219H	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	219					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(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						GGGAAGAAACTTCCTCCTGGG	0.483																																																	0													134.0	147.0	143.0					X																	21875258		2203	4300	6503	SO:0001583	missense	404281			AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.656T>A	X.37:g.21875258T>A	ENSP00000389381:p.Leu219His		B2RP10|Q6Q1S4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.L219H	ENST00000429584.2	37	c.656	CCDS14202.1	X	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207191	0.79127	.	.	ENSG00000230797	ENST00000429584	T	0.12569	2.67	4.77	3.52	0.40303	.	0.000000	0.64402	U	0.000001	T	0.10121	0.0248	L	0.57536	1.79	0.38849	D	0.956239	P	0.48407	0.91	B	0.35182	0.197	T	0.17930	-1.0353	10	0.15499	T	0.54	.	8.1211	0.30971	0.182:0.0:0.0:0.818	.	219	O15391	TYY2_HUMAN	H	219	ENSP00000389381:L219H	ENSP00000389381:L219H	L	+	2	0	YY2	21785179	0.746000	0.28272	0.076000	0.20297	0.501000	0.33797	3.716000	0.54904	1.888000	0.54679	0.486000	0.48141	CTT	YY2	-	pirsf_TF_Yin_yang		0.483	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY2	HGNC	protein_coding	OTTHUMT00000056025.1	T	NM_206923		21875258	+1	no_errors	ENST00000429584	ensembl	human	known	70_37	missense	SNP	0.956	A
ZFAND5	7763	genome.wustl.edu	37	9	74970853	74970853	+	3'UTR	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:74970853C>T	ENST00000237937.3	-	0	1215				ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_3'UTR|ZFAND5_ENST00000376960.4_3'UTR|ZFAND5_ENST00000376962.5_3'UTR	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5						face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTTTCAGTCTCTTCACAAGAA	0.323																																																	0													38.0	37.0	38.0					9																	74970853		2201	4298	6499	SO:0001624	3_prime_UTR_variant	7763			AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.*16G>A	9.37:g.74970853C>T			A8K484	RNA	SNP	-	NULL	ENST00000237937.3	37	NULL	CCDS6642.1	9																																																																																			ZFAND5	-	-		0.323	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND5	HGNC	protein_coding	OTTHUMT00000052644.1	C			74970853	-1	no_errors	ENST00000488164	ensembl	human	known	70_37	rna	SNP	1.000	T
ZFHX3	463	genome.wustl.edu	37	16	72828478	72828478	+	Silent	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr16:72828478G>A	ENST00000268489.5	-	9	8775	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F	RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.F1787F	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2701					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTACAGCCCGGAACTGTCCTT	0.547																																																	0													99.0	96.0	97.0					16																	72828478		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8103C>T	16.37:g.72828478G>A			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.F2701	ENST00000268489.5	37	c.8103	CCDS10908.1	16																																																																																			ZFHX3	-	smart_Homeodomain		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72828478	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF155	7711	genome.wustl.edu	37	19	44500376	44500376	+	Nonsense_Mutation	SNP	C	C	T	rs138952990		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:44500376C>T	ENST00000270014.2	+	5	495	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	ZNF155_ENST00000590615.1_Nonsense_Mutation_p.Q123*|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000407951.2_Nonsense_Mutation_p.Q134*	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	123					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)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				AAATAACTCTCAGTTCTTTGA	0.463																																					NSCLC(61;554 1277 20909 42067 42312)												0								C	stop/GLN,stop/GLN	2,4404	4.2+/-10.8	0,2,2201	80.0	79.0	79.0		367,367	-0.6	0.0	19	dbSNP_134	79	0,8600		0,0,4300	yes	stop-gained,stop-gained	ZNF155	NM_003445.2,NM_198089.1	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	123/539,123/539	44500376	2,13004	2203	4300	6503	SO:0001587	stop_gained	7711			U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.367C>T	19.37:g.44500376C>T	ENSP00000270014:p.Gln123*		A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	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.Q123*	ENST00000270014.2	37	c.367	CCDS12634.1	19	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478985	0.44044	4.54E-4	0.0	ENSG00000204920	ENST00000407951;ENST00000270014	.	.	.	1.95	-0.577	0.11727	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	4.2591	0.10732	0.2218:0.63:0.0:0.1482	.	.	.	.	X	134;123	.	ENSP00000270014:Q123X	Q	+	1	0	ZNF155	49192216	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.705000	0.05052	-0.050000	0.13356	-0.535000	0.04281	CAG	ZNF155	-	NULL		0.463	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF155	HGNC	protein_coding	OTTHUMT00000460074.1	C	NM_003445		44500376	+1	no_errors	ENST00000270014	ensembl	human	known	70_37	nonsense	SNP	0.011	T
ZNF28	7576	genome.wustl.edu	37	19	53304956	53304956	+	Splice_Site	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:53304956C>T	ENST00000457749.2	-	4	262		c.e4-1		ZNF28_ENST00000438150.2_Splice_Site|ZNF28_ENST00000339844.6_Intron|ZNF28_ENST00000414252.2_Splice_Site|ZNF28_ENST00000360272.4_Splice_Site|ZNF28_ENST00000594602.1_Splice_Site	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28						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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GAAGAGATATCTACAAAATAT	0.343																																																	0													89.0	92.0	91.0					19																	53304956		2196	4288	6484	SO:0001630	splice_region_variant	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.143-1G>A	19.37:g.53304956C>T			A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Splice_Site	SNP	-	e3-1	ENST00000457749.2	37	c.143-1	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	4.461	0.085476	0.08583	.	.	ENSG00000198538	ENST00000457749	.	.	.	2.43	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.27185	N	0.960578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0276	0.24948	0.0:0.8477:0.0:0.1523	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF28	57996768	0.738000	0.28186	0.002000	0.10522	0.007000	0.05969	1.822000	0.39052	0.348000	0.23949	-0.396000	0.06452	.	ZNF28	-	-		0.343	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2	C	NM_006969	Intron	53304956	-1	no_errors	ENST00000457749	ensembl	human	known	70_37	splice_site	SNP	0.014	T
ZNF154	7710	genome.wustl.edu	37	19	58216246	58216246	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:58216246C>G	ENST00000512439.2	-	2	331	c.135G>C	c.(133-135)gaG>gaC	p.E45D	ZNF154_ENST00000426889.1_Missense_Mutation_p.E45D|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGCCAAGTTCTCCAGCATCA	0.502																																																	0													166.0	159.0	161.0					19																	58216246		2203	4300	6503	SO:0001583	missense	7710			U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.135G>C	19.37:g.58216246C>G	ENSP00000421258:p.Glu45Asp		A7MCY3|Q8IVG7|Q8NAR0	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.E45D	ENST00000512439.2	37	c.135	CCDS42639.1	19	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090877	0.55968	.	.	ENSG00000179909	ENST00000512439;ENST00000426889	T;T	0.03920	3.76;3.76	2.95	0.665	0.17896	Krueppel-associated box (4);	.	.	.	.	T	0.09774	0.0240	M	0.92268	3.29	0.21499	N	0.999663	B	0.20887	0.049	B	0.23852	0.049	T	0.37572	-0.9700	9	0.23302	T	0.38	.	3.8976	0.09146	0.0:0.5994:0.2533:0.1473	.	45	Q13106	ZN154_HUMAN	D	45	ENSP00000421258:E45D;ENSP00000442370:E45D	ENSP00000442370:E45D	E	-	3	2	ZNF154	62908058	0.819000	0.29175	0.992000	0.48379	0.950000	0.60333	0.481000	0.22260	0.256000	0.21614	0.313000	0.20887	GAG	ZNF154	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.502	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF154	HGNC	protein_coding	OTTHUMT00000277102.2	C			58216246	-1	no_errors	ENST00000426889	ensembl	human	known	70_37	missense	SNP	0.993	G
ZNF341	84905	genome.wustl.edu	37	20	32357961	32357961	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:32357961G>C	ENST00000375200.1	+	10	1850	c.1485G>C	c.(1483-1485)aaG>aaC	p.K495N	ZNF341_ENST00000342427.2_Missense_Mutation_p.K488N	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AGCACATCAAGAGCCACCAGG	0.597																																																	0													71.0	59.0	63.0					20																	32357961		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.1485G>C	20.37:g.32357961G>C	ENSP00000364346:p.Lys495Asn		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K495N	ENST00000375200.1	37	c.1485		20	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714687	0.68730	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.37235	1.21;1.21	5.35	4.39	0.52855	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.100365	0.64402	D	0.000003	T	0.31231	0.0790	L	0.42581	1.335	0.37531	D	0.917929	B;B;B	0.32245	0.361;0.324;0.277	B;B;B	0.34038	0.136;0.174;0.109	T	0.34403	-0.9830	10	0.72032	D	0.01	-17.35	9.7884	0.40690	0.1592:0.0:0.8408:0.0	.	436;495;488	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	N	488;495	ENSP00000344308:K488N;ENSP00000364346:K495N	ENSP00000344308:K488N	K	+	3	2	ZNF341	31821622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.914000	0.39966	1.361000	0.45981	0.542000	0.68232	AAG	ZNF341	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.597	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		G			32357961	+1	no_errors	ENST00000375200	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF37BP	100129482	genome.wustl.edu	37	10	43015673	43015673	+	RNA	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr10:43015673C>T	ENST00000452075.3	-	0	1921					NR_026777.1				zinc finger protein 37B, pseudogene																		GCATAGCATTCATAGGGCTTC	0.413																																																	0																																												100129482			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015673C>T				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-		0.413	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	C	NR_026777		43015673	-1	no_errors	ENST00000452075	ensembl	human	known	70_37	rna	SNP	0.807	T
ZNF404	342908	genome.wustl.edu	37	19	44378083	44378083	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:44378083C>T	ENST00000587539.1	-	3	282	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZNF404_ENST00000324394.6_Missense_Mutation_p.E93K	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	95					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.E93K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CTCCCAAATTCAATTGTGTAC	0.338																																																	1	Substitution - Missense(1)	lung(1)											129.0	135.0	134.0					19																	44378083		1841	4081	5922	SO:0001583	missense	342908			XM_092027	CCDS59394.1	19q13.31	2013-01-08				ENSG00000176222		"""Zinc fingers, C2H2-type"", ""-"""	19417	protein-coding gene	gene with protein product							Standard	NM_001033719		Approved		uc002oxs.5	Q494X3		ENST00000587539.1:c.283G>A	19.37:g.44378083C>T	ENSP00000466051:p.Glu95Lys		A4FU30|K7ELF2	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.E95K	ENST00000587539.1	37	c.283	CCDS59394.1	19	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.034878	0.00406	.	.	ENSG00000176222	ENST00000324394	T	0.06449	3.3	3.11	-5.33	0.02713	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44574	-0.9319	9	0.05525	T	0.97	.	2.095	0.03666	0.1267:0.1465:0.2514:0.4754	.	95	Q494X3	ZN404_HUMAN	K	93	ENSP00000319479:E93K	ENSP00000319479:E93K	E	-	1	0	ZNF404	49069923	0.000000	0.05858	0.004000	0.12327	0.012000	0.07955	-1.561000	0.02158	-0.966000	0.03587	-0.714000	0.03626	GAA	ZNF404	-	NULL		0.338	ZNF404-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF404	HGNC	protein_coding	OTTHUMT00000460019.1	C	NM_001033719		44378083	-1	no_errors	ENST00000587539	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF483	158399	genome.wustl.edu	37	9	114305025	114305025	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr9:114305025G>A	ENST00000309235.5	+	6	1968	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	604					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(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TCACACTGGAGAAAAACCATA	0.388																																																	0													57.0	61.0	59.0					9																	114305025		2203	4300	6503	SO:0001583	missense	158399			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.1810G>A	9.37:g.114305025G>A	ENSP00000311679:p.Glu604Lys		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E604K	ENST00000309235.5	37	c.1810	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900057	0.92035	.	.	ENSG00000173258	ENST00000309235	T	0.24350	1.86	3.84	3.84	0.44239	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000210	T	0.40645	0.1125	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.26224	-1.0109	10	0.62326	D	0.03	-26.8906	14.0547	0.64761	0.0:0.0:1.0:0.0	.	604	Q8TF39	ZN483_HUMAN	K	604	ENSP00000311679:E604K	ENSP00000311679:E604K	E	+	1	0	ZNF483	113344846	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.397000	0.66302	2.436000	0.82500	0.655000	0.94253	GAA	ZNF483	-	pfscan_Znf_C2H2		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	G	XM_088567		114305025	+1	no_errors	ENST00000309235	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF521	25925	genome.wustl.edu	37	18	22902062	22902062	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr18:22902062C>T	ENST00000361524.3	-	3	278	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Missense_Mutation_p.E44K|ZNF521_ENST00000579111.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	44					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCACAGCTTCGTCTTCCAAC	0.453			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													151.0	139.0	143.0					18																	22902062		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.130G>A	18.37:g.22902062C>T	ENSP00000354794:p.Glu44Lys		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E44K	ENST00000361524.3	37	c.130	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673062	0.67928	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09255	3.0;3.06	5.91	5.91	0.95273	.	0.330064	0.27720	N	0.018138	T	0.07143	0.0181	N	0.24115	0.695	0.80722	D	1	P	0.43352	0.804	B	0.22601	0.04	T	0.30208	-0.9986	10	0.42905	T	0.14	-16.0028	18.4701	0.90771	0.0:1.0:0.0:0.0	.	44	Q96K83	ZN521_HUMAN	K	44;78;44	ENSP00000354794:E44K;ENSP00000382352:E44K	ENSP00000354794:E44K	E	-	1	0	ZNF521	21156060	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.232000	0.78116	2.794000	0.96219	0.655000	0.94253	GAA	ZNF521	-	NULL		0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	C	NM_015461		22902062	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF8	7554	genome.wustl.edu	37	19	58805598	58805598	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:58805598G>C	ENST00000196548.5	+	4	555	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	ZNF8_ENST00000608843.1_Missense_Mutation_p.E142Q|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	142					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E142K(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GAAAGACAGGGAGTGTCAGAG	0.522																																																	1	Substitution - Missense(1)	skin(1)											62.0	49.0	54.0					19																	58805598		2203	4300	6503	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.424G>C	19.37:g.58805598G>C	ENSP00000196548:p.Glu142Gln		Q6PI99	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.E142Q	ENST00000196548.5	37	c.424	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052905	0.19907	.	.	ENSG00000083842	ENST00000196548	T	0.06608	3.28	5.02	0.313	0.15842	.	0.875385	0.09664	N	0.772045	T	0.05823	0.0152	L	0.40543	1.245	0.09310	N	1	B	0.22480	0.07	B	0.14023	0.01	T	0.38628	-0.9652	10	0.42905	T	0.14	-0.2303	6.6483	0.22947	0.164:0.4313:0.4047:0.0	.	142	P17098	ZNF8_HUMAN	Q	142	ENSP00000196548:E142Q	ENSP00000196548:E142Q	E	+	1	0	ZNF8	63497410	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.136000	0.10405	0.089000	0.17243	-0.181000	0.13052	GAG	ZNF8	-	NULL		0.522	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58805598	+1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	0.003	C
ZNF860	344787	genome.wustl.edu	37	3	32030784	32030784	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr3:32030784G>A	ENST00000360311.4	+	2	762	c.213G>A	c.(211-213)atG>atA	p.M71I		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	71	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AATGCATGATGAAGAAGTTCT	0.443																																																	0													85.0	69.0	73.0					3																	32030784		692	1591	2283	SO:0001583	missense	344787			AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.213G>A	3.37:g.32030784G>A	ENSP00000373274:p.Met71Ile		B4DFA4	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.M71I	ENST00000360311.4	37	c.213	CCDS46784.1	3	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.676151	0.00751	.	.	ENSG00000197385	ENST00000360311	T	0.04360	3.64	0.345	-0.691	0.11305	Krueppel-associated box (3);	.	.	.	.	T	0.02119	0.0066	N	0.05441	-0.05	0.09310	N	1	B	0.18461	0.028	B	0.14578	0.011	T	0.48468	-0.9033	7	.	.	.	.	.	.	.	.	71	A6NHJ4	ZN860_HUMAN	I	71	ENSP00000373274:M71I	.	M	+	3	0	ZNF860	32005788	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.912000	0.04046	-0.519000	0.06444	-0.515000	0.04445	ATG	ZNF860	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.443	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF860	HGNC	protein_coding	OTTHUMT00000341957.1	G			32030784	+1	no_errors	ENST00000360311	ensembl	human	known	70_37	missense	SNP	0.090	A
ZNRF4	148066	genome.wustl.edu	37	19	5456144	5456144	+	Silent	SNP	G	G	T			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr19:5456144G>T	ENST00000222033.4	+	1	719	c.642G>T	c.(640-642)gtG>gtT	p.V214V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	214	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGTTCGTGAGCGAGGCCG	0.672																																																	0													62.0	64.0	63.0					19																	5456144		2173	4263	6436	SO:0001819	synonymous_variant	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.642G>T	19.37:g.5456144G>T			A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V214	ENST00000222033.4	37	c.642	CCDS42475.1	19																																																																																			ZNRF4	-	pfam_Protease-assoc_domain		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	G	NM_181710		5456144	+1	no_errors	ENST00000222033	ensembl	human	known	70_37	silent	SNP	0.037	T
ZSCAN20	7579	genome.wustl.edu	37	1	33960203	33960203	+	Silent	SNP	C	C	G			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr1:33960203C>G	ENST00000361328.3	+	8	2412	c.2259C>G	c.(2257-2259)ctC>ctG	p.L753L		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	753					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCTCTAACCTCAATACCCATC	0.458																																																	0													88.0	99.0	95.0					1																	33960203		2144	4271	6415	SO:0001819	synonymous_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2259C>G	1.37:g.33960203C>G			A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L753	ENST00000361328.3	37	c.2259	CCDS41300.1	1																																																																																			ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	C	NM_145238		33960203	+1	no_errors	ENST00000326544	ensembl	human	known	70_37	silent	SNP	0.122	G
ZSWIM1	90204	genome.wustl.edu	37	20	44512530	44512530	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr20:44512530G>C	ENST00000372523.1	+	2	1394	c.1299G>C	c.(1297-1299)tgG>tgC	p.W433C	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.W433C	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	433						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GCAGCAAGTGGAGTGAGACCC	0.617																																																	0													69.0	63.0	65.0					20																	44512530		2203	4300	6503	SO:0001583	missense	90204			AL008726	CCDS13382.2	20q13.12	2013-09-20	2003-12-17	2003-12-19	ENSG00000168612	ENSG00000168612		"""Zinc fingers, SWIM-type"""	16155	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 162"""	C20orf162			Standard	NM_080603		Approved	dJ337O18.5	uc010ghi.3	Q9BR11	OTTHUMG00000074023	ENST00000372523.1:c.1299G>C	20.37:g.44512530G>C	ENSP00000361601:p.Trp433Cys		Q5JZH2|Q9BR12|Q9BV30	Missense_Mutation	SNP	pfam_Znf_SWIM,pfscan_Znf_SWIM	p.W433C	ENST00000372523.1	37	c.1299	CCDS13382.2	20	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592274	0.46214	.	.	ENSG00000168612	ENST00000372523;ENST00000372520	T;T	0.24350	1.86;1.86	5.24	4.27	0.50696	.	0.261629	0.27280	U	0.020096	T	0.25827	0.0629	L	0.27053	0.805	0.58432	D	0.999997	D	0.53312	0.959	P	0.47744	0.556	T	0.03306	-1.1050	10	0.49607	T	0.09	.	15.7365	0.77849	0.0:0.1368:0.8632:0.0	.	433	Q9BR11	ZSWM1_HUMAN	C	433	ENSP00000361601:W433C;ENSP00000361598:W433C	ENSP00000361598:W433C	W	+	3	0	ZSWIM1	43945937	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	3.420000	0.52735	1.379000	0.46325	0.655000	0.94253	TGG	ZSWIM1	-	NULL		0.617	ZSWIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM1	HGNC	protein_coding	OTTHUMT00000157064.2	G	NM_080603		44512530	+1	no_errors	ENST00000372520	ensembl	human	known	70_37	missense	SNP	0.995	C
ZW10	9183	genome.wustl.edu	37	11	113610023	113610023	+	Silent	SNP	G	G	A	rs146253851		TCGA-EK-A2R8-01A-21D-A18J-09	TCGA-EK-A2R8-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1fafe3c5-ac9b-46e3-9c98-33b62a219227	1ef5ec74-19dc-4584-b0a8-edf7c5fda245	g.chr11:113610023G>A	ENST00000200135.3	-	12	1809	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	555					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		ACTGATGCCCGAGGGTCAGCA	0.488																																																	0								G		1,4401	2.1+/-5.4	0,1,2200	163.0	145.0	151.0		1665	-11.4	0.1	11	dbSNP_134	151	0,8592		0,0,4296	no	coding-synonymous	ZW10	NM_004724.3		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		555/780	113610023	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1665C>T	11.37:g.113610023G>A			A1A528	Silent	SNP	pfam_RZZ-complex_Zw10	p.L555	ENST00000200135.3	37	c.1665	CCDS8363.1	11																																																																																			ZW10	-	pfam_RZZ-complex_Zw10		0.488	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZW10	HGNC	protein_coding	OTTHUMT00000398700.1	G	NM_004724		113610023	-1	no_errors	ENST00000200135	ensembl	human	known	70_37	silent	SNP	0.038	A
