#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AASDH	132949	genome.wustl.edu	37	4	57244534	57244534	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:57244534C>T	ENST00000205214.6	-	4	628	c.448G>A	c.(448-450)Gag>Aag	p.E150K	AASDH_ENST00000502617.1_Missense_Mutation_p.E150K|AASDH_ENST00000451613.1_Missense_Mutation_p.E150K|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.E50K|AASDH_ENST00000510762.1_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	150					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAGTTCACCTCAGTATTTTTC	0.303																																																	0													85.0	82.0	83.0					4																	57244534		2203	4298	6501	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.448G>A	4.37:g.57244534C>T	ENSP00000205214:p.Glu150Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.E150K	ENST00000205214.6	37	c.448	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	C	9.792	1.178223	0.21787	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000502617	T;T;T;T	0.61392	1.0;0.11;1.0;1.0	5.85	4.11	0.48088	AMP-dependent synthetase/ligase (1);	1.099760	0.06849	N	0.796992	T	0.51024	0.1650	L	0.36672	1.1	0.09310	N	1	B;B;P	0.34864	0.274;0.274;0.473	B;B;B	0.34931	0.072;0.112;0.192	T	0.45293	-0.9271	10	0.62326	D	0.03	0.0964	10.0415	0.42162	0.0:0.6522:0.2781:0.0697	.	150;150;150	Q4L235-4;Q4L235-3;Q4L235	.;.;ACSF4_HUMAN	K	150;50;150;150	ENSP00000205214:E150K;ENSP00000423760:E50K;ENSP00000409656:E150K;ENSP00000421171:E150K	ENSP00000205214:E150K	E	-	1	0	AASDH	56939291	0.091000	0.21658	0.001000	0.08648	0.199000	0.23934	2.310000	0.43708	0.785000	0.33685	0.655000	0.94253	GAG	AASDH	-	pfam_AMP-dep_Synth/Lig		0.303	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	C	NM_181806		57244534	-1	no_errors	ENST00000205214	ensembl	human	known	70_37	missense	SNP	0.002	T
ABCC9	10060	genome.wustl.edu	37	12	21968729	21968730	+	Frame_Shift_Ins	INS	-	-	CTTAAGAA			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:21968729_21968730insCTTAAGAA	ENST00000261201.4	-	32	3989_3990	c.3990_3991insTTCTTAAG	c.(3988-3993)aagcacfs	p.H1331fs	ABCC9_ENST00000345162.2_Frame_Shift_Ins_p.H1295fs|ABCC9_ENST00000261200.4_Frame_Shift_Ins_p.H1331fs	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1331	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCCTTGACGTGCTTAAGAACAG	0.391																																																	0																																										SO:0001589	frameshift_variant	10060			AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3983_3990dupTTCTTAAG	12.37:g.21968730_21968737dupCTTAAGAA	ENSP00000261201:p.His1331fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O60707	Frame_Shift_Ins	INS	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.H1330fs	ENST00000261201.4	37	c.3991_3990	CCDS8694.1	12																																																																																			ABCC9	-	pfscan_ABC_transporter-like		0.391	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	-	NM_005691		21968730	-1	no_errors	ENST00000261200	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.997	CTTAAGAA
ACAA1	30	genome.wustl.edu	37	3	38164399	38164399	+	3'UTR	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:38164399G>C	ENST00000333167.8	-	0	1586				ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_3'UTR|ACAA1_ENST00000450296.1_3'UTR|DLEC1_ENST00000308059.6_3'UTR|Y_RNA_ENST00000365095.1_RNA	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TTTTCCAAATGAGTTGAAGTG	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	30			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.*139C>G	3.37:g.38164399G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	G5E935|Q96CA6	RNA	SNP	-	NULL	ENST00000333167.8	37	NULL	CCDS2673.1	3																																																																																			ACAA1	-	-		0.498	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAA1	HGNC	protein_coding	OTTHUMT00000342980.1	G	NM_001607		38164399	-1	no_errors	ENST00000480865	ensembl	human	known	70_37	rna	SNP	0.000	C
ANGPTL1	9068	genome.wustl.edu	37	1	178822038	178822038	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:178822038G>C	ENST00000234816.2	-	5	1515	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.I356M|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	356	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TAAGCATATAGATATTTTCCA	0.338																																																	0													87.0	87.0	87.0					1																	178822038		2203	4299	6502	SO:0001583	missense	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1068C>G	1.37:g.178822038G>C	ENSP00000234816:p.Ile356Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T5Z5	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.I356M	ENST00000234816.2	37	c.1068	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572373	0.65765	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.84070	-1.8;-1.8	5.43	5.43	0.79202	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	M	0.79123	2.44	0.80722	D	1	D	0.64830	0.994	D	0.66979	0.948	D	0.90126	0.4203	10	0.72032	D	0.01	.	10.7486	0.46196	0.1208:0.0:0.8792:0.0	.	356	O95841	ANGL1_HUMAN	M	356	ENSP00000234816:I356M;ENSP00000356601:I356M	ENSP00000234816:I356M	I	-	3	3	ANGPTL1	177088661	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.742000	0.38248	2.544000	0.85801	0.650000	0.86243	ATC	ANGPTL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.338	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	G	NM_004673		178822038	-1	no_errors	ENST00000234816	ensembl	human	known	70_37	missense	SNP	1.000	C
ANPEP	290	genome.wustl.edu	37	15	90347826	90347826	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:90347826C>T	ENST00000300060.6	-	5	1233	c.920G>A	c.(919-921)aGt>aAt	p.S307N	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	307	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CGCAATGGCACTGGGCCGGGC	0.612																																					NSCLC(30;827 977 2459 19669 26125)												0													61.0	67.0	65.0					15																	90347826		2200	4299	6499	SO:0001583	missense	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.920G>A	15.37:g.90347826C>T	ENSP00000300060:p.Ser307Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S307N	ENST00000300060.6	37	c.920	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	C	13.21	2.167958	0.38315	.	.	ENSG00000166825	ENST00000300060	T	0.04706	3.57	4.87	-1.78	0.07957	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.983219	0.08352	N	0.959157	T	0.02688	0.0081	N	0.16166	0.38	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.47787	-0.9090	10	0.27082	T	0.32	.	4.3691	0.11239	0.0:0.2185:0.3394:0.4421	.	307	P15144	AMPN_HUMAN	N	307	ENSP00000300060:S307N	ENSP00000300060:S307N	S	-	2	0	ANPEP	88148830	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	0.692000	0.25482	-0.167000	0.10871	0.313000	0.20887	AGT	ANPEP	-	pfam_Peptidase_M1_N		0.612	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	C			90347826	-1	no_errors	ENST00000300060	ensembl	human	known	70_37	missense	SNP	0.010	T
APBB2	323	genome.wustl.edu	37	4	40825700	40825700	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:40825700C>G	ENST00000295974.8	-	16	2519	c.1890G>C	c.(1888-1890)atG>atC	p.M630I	APBB2_ENST00000543538.1_Missense_Mutation_p.M82I|APBB2_ENST00000502841.1_Missense_Mutation_p.M82I|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Missense_Mutation_p.M82I|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.M609I|APBB2_ENST00000508593.1_Missense_Mutation_p.M631I|APBB2_ENST00000513140.1_Missense_Mutation_p.M608I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	630	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAGCCACGTTCATGTTCACTG	0.418																																					Ovarian(3;20 75 16686 49997)												0													120.0	122.0	121.0					4																	40825700		1981	4159	6140	SO:0001583	missense	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1890G>C	4.37:g.40825700C>G	ENSP00000295974:p.Met630Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.M630I	ENST00000295974.8	37	c.1890	CCDS54761.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.750|8.750	0.920953|0.920953	0.17982|0.17982	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516	.|T;T;T;T;T;T;T;T;T;T;T	.|0.28454	.|1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.85|5.85	5.85|5.85	0.93711|0.93711	.|Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	.|0.088680	.|0.85682	.|D	.|0.000000	T|T	0.20659|0.20659	0.0497|0.0497	N|N	0.16368|0.16368	0.405|0.405	0.47094|0.47094	D|D	0.99931|0.99931	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.003;0.004	T|T	0.05386|0.05386	-1.0888|-1.0888	5|10	.|0.25106	.|T	.|0.35	-29.8198|-29.8198	14.9339|14.9339	0.70938|0.70938	0.143:0.857:0.0:0.0|0.143:0.857:0.0:0.0	.|.	.|631;608;630	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	Q|I	600|630;629;82;608;631;82;609;82;144;82;82;82	.|ENSP00000295974:M630I;ENSP00000439357:M82I;ENSP00000426018:M608I;ENSP00000427211:M631I;ENSP00000425802:M82I;ENSP00000421539:M609I;ENSP00000423765:M82I;ENSP00000426429:M144I;ENSP00000427107:M82I;ENSP00000421751:M82I;ENSP00000421301:M82I	.|ENSP00000295974:M630I	E|M	-|-	1|3	0|0	APBB2|APBB2	40520457|40520457	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.014000|0.014000	0.08584|0.08584	3.873000|3.873000	0.56093|0.56093	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GAA|ATG	APBB2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.418	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	C	NM_173075		40825700	-1	no_errors	ENST00000295974	ensembl	human	known	70_37	missense	SNP	1.000	G
APOB	338	genome.wustl.edu	37	2	21234642	21234642	+	Missense_Mutation	SNP	C	C	T	rs140783923		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:21234642C>T	ENST00000233242.1	-	26	5225	c.5098G>A	c.(5098-5100)Gat>Aat	p.D1700N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1700					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTTCCCATCCAGACTGAAT	0.478																																																	0													124.0	116.0	119.0					2																	21234642		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5098G>A	2.37:g.21234642C>T	ENSP00000233242:p.Asp1700Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.D1700N	ENST00000233242.1	37	c.5098	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026043	0.75390	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00840	5.63	5.97	5.97	0.96955	.	0.094275	0.46145	D	0.000319	T	0.04952	0.0133	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.29792	-1.0000	10	0.59425	D	0.04	.	20.4238	0.99064	0.0:1.0:0.0:0.0	.	1700	P04114	APOB_HUMAN	N	1700	ENSP00000233242:D1700N	ENSP00000233242:D1700N	D	-	1	0	APOB	21088147	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	6.008000	0.70739	2.834000	0.97654	0.650000	0.86243	GAT	APOB	-	NULL		0.478	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21234642	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	1.000	T
APLF	200558	genome.wustl.edu	37	2	68804999	68804999	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:68804999G>C	ENST00000303795.4	+	10	1552	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	461					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GCAACCCAATGAGTATGACCT	0.408																																																	0													182.0	177.0	179.0					2																	68804999		2203	4300	6503	SO:0001583	missense	200558			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1381G>C	2.37:g.68804999G>C	ENSP00000307004:p.Glu461Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.E461Q	ENST00000303795.4	37	c.1381	CCDS1888.1	2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457399	0.84317	.	.	ENSG00000169621	ENST00000303795	T	0.26518	1.73	5.59	5.59	0.84812	.	0.171732	0.49916	D	0.000128	T	0.50000	0.1590	M	0.67953	2.075	0.25357	N	0.988815	D	0.89917	1.0	D	0.68765	0.96	T	0.41413	-0.9510	10	0.46703	T	0.11	.	18.3684	0.90399	0.0:0.0:1.0:0.0	.	461	Q8IW19	APLF_HUMAN	Q	461	ENSP00000307004:E461Q	ENSP00000307004:E461Q	E	+	1	0	APLF	68658503	1.000000	0.71417	0.034000	0.17996	0.238000	0.25445	3.801000	0.55545	2.634000	0.89283	0.650000	0.86243	GAG	APLF	-	NULL		0.408	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	G	NM_173545		68804999	+1	no_errors	ENST00000303795	ensembl	human	known	70_37	missense	SNP	0.519	C
LVRN	206338	genome.wustl.edu	37	5	115351427	115351427	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:115351427C>T	ENST00000357872.4	+	18	2845	c.2721C>T	c.(2719-2721)gaC>gaT	p.D907D	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		907						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TCGCAAAAGACTTCTTAGTCA	0.418																																																	0													79.0	76.0	77.0					5																	115351427		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.2721C>T	5.37:g.115351427C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.D907	ENST00000357872.4	37	c.2721	CCDS4124.1	5																																																																																			AQPEP	-	NULL		0.418	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115351427	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	0.997	T
ARHGAP35	2909	genome.wustl.edu	37	19	47422099	47422099	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:47422099C>T	ENST00000404338.3	+	1	167	c.167C>T	c.(166-168)tCc>tTc	p.S56F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	56					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										GACCATACCTCCGTCCTCAGC	0.542																																																	0													99.0	103.0	102.0					19																	47422099		1991	4178	6169	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.167C>T	19.37:g.47422099C>T	ENSP00000385720:p.Ser56Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S56F	ENST00000404338.3	37	c.167	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807185	0.70797	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.20332	2.08	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59994	-0.7349	10	0.87932	D	0	-23.6134	19.1078	0.93303	0.0:1.0:0.0:0.0	.	56	Q9NRY4-2	.	F	56	ENSP00000385720:S56F	ENSP00000324820:S56F	S	+	2	0	ARHGAP35	52113939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.814000	0.96858	0.563000	0.77884	TCC	ARHGAP35	-	NULL		0.542	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47422099	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP6	395	genome.wustl.edu	37	X	11682476	11682476	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:11682476G>A	ENST00000337414.4	-	1	1345	c.473C>T	c.(472-474)tCa>tTa	p.S158L	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.S158L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.S158L	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	158					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCCCCGGATGAACAGAGGAT	0.662																																																	0													25.0	27.0	26.0					X																	11682476		2202	4300	6502	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.473C>T	X.37:g.11682476G>A	ENSP00000338967:p.Ser158Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S158L	ENST00000337414.4	37	c.473	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816108	0.50527	.	.	ENSG00000047648	ENST00000337414;ENST00000380718;ENST00000380732	T;T;T	0.28069	1.97;1.88;1.63	4.44	3.56	0.40772	.	.	.	.	.	T	0.17152	0.0412	N	0.19112	0.55	0.28297	N	0.923279	B;B	0.32101	0.356;0.243	B;B	0.29598	0.104;0.048	T	0.06734	-1.0810	9	0.38643	T	0.18	.	5.6513	0.17618	0.1132:0.1971:0.6897:0.0	.	158;158	O43182-2;O43182	.;RHG06_HUMAN	L	158	ENSP00000338967:S158L;ENSP00000370094:S158L;ENSP00000370108:S158L	ENSP00000338967:S158L	S	-	2	0	ARHGAP6	11592397	0.591000	0.26824	0.947000	0.38551	0.344000	0.29017	1.612000	0.36889	2.062000	0.61559	0.600000	0.82982	TCA	ARHGAP6	-	NULL		0.662	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11682476	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	0.504	A
ARHGAP36	158763	genome.wustl.edu	37	X	130218322	130218322	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:130218322C>T	ENST00000276211.5	+	5	1034	c.689C>T	c.(688-690)cCg>cTg	p.P230L	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P218L|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P94L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	230	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGTCTCAATCCGATTGCGAAA	0.468																																																	0													49.0	46.0	47.0					X																	130218322		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.689C>T	X.37:g.130218322C>T	ENSP00000276211:p.Pro230Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P230L	ENST00000276211.5	37	c.689	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144131	0.57044	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T;T	0.39997	2.65;2.64;1.05;1.05;1.05	4.99	4.99	0.66335	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.50627	D	0.000113	T	0.62282	0.2415	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.61917	-0.6964	10	0.40728	T	0.16	.	12.5345	0.56135	0.0:1.0:0.0:0.0	.	199;218;230	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	L	230;218;182;199;94	ENSP00000276211:P230L;ENSP00000359960:P218L;ENSP00000409218:P182L;ENSP00000408515:P199L;ENSP00000359959:P94L	ENSP00000276211:P230L	P	+	2	0	ARHGAP36	130046003	1.000000	0.71417	0.912000	0.35992	0.132000	0.20833	6.439000	0.73430	2.451000	0.82905	0.529000	0.55759	CCG	ARHGAP36	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.468	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130218322	+1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	0.995	T
ASXL3	80816	genome.wustl.edu	37	18	31323474	31323474	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:31323474C>G	ENST00000269197.5	+	12	3662	c.3662C>G	c.(3661-3663)tCt>tGt	p.S1221C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1221	Ser-rich.				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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCATCTACCTCTTCTGAAAAT	0.378																																																	0													79.0	72.0	74.0					18																	31323474		1833	4088	5921	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3662C>G	18.37:g.31323474C>G	ENSP00000269197:p.Ser1221Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.S1221C	ENST00000269197.5	37	c.3662	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	17.58	3.423940	0.62733	.	.	ENSG00000141431	ENST00000269197	T	0.59083	0.29	5.68	5.68	0.88126	.	0.813352	0.11037	N	0.606509	T	0.71247	0.3317	L	0.32530	0.975	0.44337	D	0.997223	D	0.89917	1.0	D	0.85130	0.997	T	0.70008	-0.4990	10	0.66056	D	0.02	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	1221	Q9C0F0	ASXL3_HUMAN	C	1221	ENSP00000269197:S1221C	ENSP00000269197:S1221C	S	+	2	0	ASXL3	29577472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.677000	0.68142	2.689000	0.91719	0.655000	0.94253	TCT	ASXL3	-	NULL		0.378	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	C			31323474	+1	no_errors	ENST00000269197	ensembl	human	known	70_37	missense	SNP	1.000	G
ATOH1	474	genome.wustl.edu	37	4	94750668	94750668	+	Silent	SNP	A	A	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:94750668A>G	ENST00000306011.3	+	1	627	c.591A>G	c.(589-591)aaA>aaG	p.K197K		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	197	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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 transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGCTGTCCAAATATGAGACCC	0.597																																																	0													54.0	56.0	55.0					4																	94750668		2203	4300	6503	SO:0001819	synonymous_variant	474			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.591A>G	4.37:g.94750668A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CT9	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.K197	ENST00000306011.3	37	c.591	CCDS3638.1	4																																																																																			ATOH1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.597	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	HGNC	protein_coding	OTTHUMT00000253585.1	A	NM_005172		94750668	+1	no_errors	ENST00000306011	ensembl	human	known	70_37	silent	SNP	1.000	G
ATP2A2	488	genome.wustl.edu	37	12	110778588	110778588	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:110778588G>A	ENST00000539276.2	+	14	1995	c.1886G>A	c.(1885-1887)gGc>gAc	p.G629D	ATP2A2_ENST00000395494.2_Missense_Mutation_p.G602D|ATP2A2_ENST00000308664.6_Missense_Mutation_p.G629D			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	629					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GACAACAAGGGCACTGCTGTG	0.597																																																	0													90.0	83.0	85.0					12																	110778588		2203	4300	6503	SO:0001583	missense	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1886G>A	12.37:g.110778588G>A	ENSP00000440045:p.Gly629Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.G629D	ENST00000539276.2	37	c.1886	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004286	0.74932	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.95724	-3.79;-3.79;-3.79	5.81	5.81	0.92471	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	N	0.01529	-0.815	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.003;0.003;0.004	T	0.82061	-0.0644	10	0.16896	T	0.51	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	602;629;629	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	D	629;602;629	ENSP00000311186:G629D;ENSP00000378872:G602D;ENSP00000440045:G629D	ENSP00000311186:G629D	G	+	2	0	ATP2A2	109262971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GGC	ATP2A2	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp		0.597	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	G	NM_001681		110778588	+1	no_errors	ENST00000539276	ensembl	human	known	70_37	missense	SNP	1.000	A
BAP1	8314	genome.wustl.edu	37	3	52437782	52437782	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:52437782G>C	ENST00000460680.1	-	13	1850	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.S442*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S460*(2)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGAGGAATTGAGAGGTCCTT	0.587			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Nonsense(2)	eye(1)|kidney(1)											72.0	74.0	73.0					3																	52437782		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1379C>G	3.37:g.52437782G>C	ENSP00000417132:p.Ser460*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.S460*	ENST00000460680.1	37	c.1379	CCDS2853.1	3	.	.	.	.	.	.	.	.	.	.	G	28.3	4.910675	0.92107	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	6.05	6.05	0.98169	.	0.275715	0.37348	N	0.002126	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.0195	0.80472	0.0:0.1335:0.8665:0.0	.	.	.	.	X	460;442	.	ENSP00000296288:S442X	S	-	2	0	BAP1	52412822	1.000000	0.71417	0.890000	0.34922	0.933000	0.57130	5.347000	0.65998	2.880000	0.98712	0.655000	0.94253	TCA	BAP1	-	NULL		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52437782	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	0.982	C
BLNK	29760	genome.wustl.edu	37	10	97959869	97959869	+	Silent	SNP	G	G	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:97959869G>T	ENST00000224337.5	-	15	1198	c.1057C>A	c.(1057-1059)Cga>Aga	p.R353R	BLNK_ENST00000427367.2_Silent_p.R353R|BLNK_ENST00000413476.2_Silent_p.R353R|BLNK_ENST00000371176.2_Silent_p.R330R	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	353	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		GCAGACTTTCGATCACAGGCT	0.378																																																	0													67.0	59.0	61.0					10																	97959869		2203	4300	6503	SO:0001819	synonymous_variant	29760			AF068180	CCDS7446.1, CCDS44464.1, CCDS58091.1, CCDS73171.1	10q23.2-q23.33	2014-09-17			ENSG00000095585	ENSG00000095585		"""SH2 domain containing"""	14211	protein-coding gene	gene with protein product	"""B-cell adapter containing a SH2 domain protein"", ""B-cell activation"", ""Src homology [SH2] domain-containing leukocyte protein of 65 kD"", ""B cell adaptor containing SH2 domain"""	604515				9697839, 10583958	Standard	NM_013314		Approved	SLP65, Ly57, SLP-65, BLNK-s, BASH, bca	uc001kls.4	Q8WV28	OTTHUMG00000018827	ENST00000224337.5:c.1057C>A	10.37:g.97959869G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75498|O75499|Q2MD49	Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2	p.R353	ENST00000224337.5	37	c.1057	CCDS7446.1	10																																																																																			BLNK	-	pfam_SH2,smart_SH2,pfscan_SH2		0.378	BLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLNK	HGNC	protein_coding	OTTHUMT00000049593.1	G	NM_013314		97959869	-1	no_errors	ENST00000224337	ensembl	human	known	70_37	silent	SNP	1.000	T
BTBD10	84280	genome.wustl.edu	37	11	13441050	13441050	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:13441050C>G	ENST00000278174.5	-	4	786	c.541G>C	c.(541-543)Gac>Cac	p.D181H	BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Missense_Mutation_p.D133H|BTBD10_ENST00000530907.1_Missense_Mutation_p.D189H	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	181	BTB.|Interaction with AKT family members. {ECO:0000250|UniProtKB:Q80X66}.					nucleus (GO:0005634)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		ATGGATGGGTCTACAACAAAT	0.358																																																	0													133.0	136.0	135.0					11																	13441050		2200	4292	6492	SO:0001583	missense	84280			AY221959	CCDS7811.1, CCDS73261.1	11p15.2	2013-01-24			ENSG00000148925	ENSG00000148925		"""BTB/POZ domain containing"""	21445	protein-coding gene	gene with protein product		615933				15556295	Standard	XM_005253164		Approved	GMRP1, GMRP-1, MGC13007	uc001mkz.3	Q9BSF8	OTTHUMG00000165787	ENST00000278174.5:c.541G>C	11.37:g.13441050C>G	ENSP00000278174:p.Asp181His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z228|Q86WG1	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.D181H	ENST00000278174.5	37	c.541	CCDS7811.1	11	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827271	0.90955	.	.	ENSG00000148925	ENST00000278174;ENST00000530907;ENST00000528120	D;D;D	0.83075	-1.68;-1.68;-1.68	5.42	5.42	0.78866	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.90290	0.6963	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.991;0.991;0.991	D	0.90999	0.4841	10	0.87932	D	0	-49.3969	18.8084	0.92048	0.0:1.0:0.0:0.0	.	150;189;181;181	B7Z2J1;B7Z228;D3DQW7;Q9BSF8	.;.;.;BTBDA_HUMAN	H	181;189;133	ENSP00000278174:D181H;ENSP00000431186:D189H;ENSP00000435257:D133H	ENSP00000278174:D181H	D	-	1	0	BTBD10	13397626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.699000	0.84547	2.534000	0.85438	0.650000	0.86243	GAC	BTBD10	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.358	BTBD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD10	HGNC	protein_coding	OTTHUMT00000386200.1	C	NM_032320		13441050	-1	no_errors	ENST00000278174	ensembl	human	known	70_37	missense	SNP	1.000	G
BRMS1	25855	genome.wustl.edu	37	11	66109569	66109569	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:66109569G>C	ENST00000359957.3	-	2	297	c.137C>G	c.(136-138)tCc>tGc	p.S46C	RP11-867G23.12_ENST00000526655.1_RNA|BRMS1_ENST00000425825.2_Missense_Mutation_p.S46C	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	46					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						GGGCTCACCGGAGCTCTCCTC	0.567																																					GBM(7;55 307 2662 20856 28942)												0													125.0	91.0	103.0					11																	66109569		2200	4295	6495	SO:0001583	missense	25855			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.137C>G	11.37:g.66109569G>C	ENSP00000353042:p.Ser46Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAI2	Missense_Mutation	SNP	pfam_Sds3	p.S46C	ENST00000359957.3	37	c.137	CCDS8135.1	11	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466111	0.63625	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.49	4.49	0.54785	.	0.195255	0.34178	N	0.004186	T	0.73969	0.3655	L	0.54323	1.7	0.42623	D	0.993352	D;D	0.76494	0.997;0.999	P;D	0.70716	0.892;0.97	T	0.77242	-0.2660	9	0.66056	D	0.02	-26.1278	15.0486	0.71846	0.0:0.0:1.0:0.0	.	46;46	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	C	46	.	ENSP00000353042:S46C	S	-	2	0	BRMS1	65866145	1.000000	0.71417	0.996000	0.52242	0.628000	0.37860	5.928000	0.70088	2.234000	0.73211	0.591000	0.81541	TCC	BRMS1	-	NULL		0.567	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	G	NM_015399		66109569	-1	no_errors	ENST00000425825	ensembl	human	known	70_37	missense	SNP	0.980	C
C18orf21	83608	genome.wustl.edu	37	18	33554887	33554887	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:33554887T>G	ENST00000592875.1	+	3	775	c.129T>G	c.(127-129)tgT>tgG	p.C43W	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	43										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAGAAACGTGTCCATACTGTT	0.368																																																	0													92.0	96.0	94.0					18																	33554887		2203	4300	6503	SO:0001583	missense	83608			BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.129T>G	18.37:g.33554887T>G	ENSP00000465517:p.Cys43Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GW03|Q9BXV6|Q9BXW2	Missense_Mutation	SNP	NULL	p.C43W	ENST00000592875.1	37	c.129	CCDS11916.2	18	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262462	0.59431	.	.	ENSG00000141428	ENST00000333234	.	.	.	4.99	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73023	-0.4113	9	0.87932	D	0	-0.6806	6.727	0.23363	0.0:0.187:0.0:0.813	.	43	Q32NC0	CR021_HUMAN	W	43	.	ENSP00000329492:C43W	C	+	3	2	C18orf21	31808885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.152000	0.31663	0.855000	0.35359	0.528000	0.53228	TGT	C18orf21	-	NULL		0.368	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C18orf21	HGNC	protein_coding	OTTHUMT00000250364.1	T	NM_031446		33554887	+1	no_errors	ENST00000592875	ensembl	human	known	70_37	missense	SNP	1.000	G
C19orf18	147685	genome.wustl.edu	37	19	58472918	58472918	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:58472918G>A	ENST00000314391.3	-	5	474	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	125						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		TGTGCCAGTCGACTGGAGAAT	0.433																																																	0													104.0	98.0	100.0					19																	58472918		2203	4300	6503	SO:0001630	splice_region_variant	147685			BC033933	CCDS12967.1	19q13.43	2013-03-11			ENSG00000177025	ENSG00000177025			28642	protein-coding gene	gene with protein product						12477932	Standard	NM_152474		Approved	MGC41906	uc002qqv.3	Q8NEA5	OTTHUMG00000183450	ENST00000314391.3:c.372-1C>T	19.37:g.58472918G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.R125*	ENST00000314391.3	37	c.373	CCDS12967.1	19	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375458	0.42105	.	.	ENSG00000177025	ENST00000314391	.	.	.	4.14	1.92	0.25849	.	0.198054	0.25250	N	0.032023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6749	9.037	0.36293	0.0:0.0:0.5621:0.4379	.	.	.	.	X	125	.	ENSP00000321519:R125X	R	-	1	2	C19orf18	63164730	0.817000	0.29147	0.663000	0.29738	0.069000	0.16628	0.736000	0.26130	0.621000	0.30232	0.462000	0.41574	CGA	C19orf18	-	NULL		0.433	C19orf18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf18	HGNC	protein_coding	OTTHUMT00000466704.1	G	NM_152474	Nonsense_Mutation	58472918	-1	no_errors	ENST00000314391	ensembl	human	known	70_37	nonsense	SNP	0.719	A
C1orf56	54964	genome.wustl.edu	37	1	151021205	151021205	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:151021205C>T	ENST00000368926.5	+	1	990	c.882C>T	c.(880-882)ctC>ctT	p.L294L	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	294						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATCCACCTCAGAAGCAGTC	0.592											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)												0													103.0	113.0	110.0					1																	151021205		2203	4300	6503	SO:0001819	synonymous_variant	54964			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.882C>T	1.37:g.151021205C>T		Somatic	1737	WXS	Illumina HiSeq	Phase_IV	B2RDU8|Q9NWZ4	Silent	SNP	superfamily_Thrombospondin_1_rpt	p.L294	ENST00000368926.5	37	c.882	CCDS980.1	1																																																																																			C1orf56	-	NULL		0.592	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf56	HGNC	protein_coding	OTTHUMT00000085101.1	C	NM_017860		151021205	+1	no_errors	ENST00000368926	ensembl	human	known	70_37	silent	SNP	0.000	T
C1orf112	55732	genome.wustl.edu	37	1	169771780	169771780	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:169771780G>A	ENST00000286031.6	+	4	785	c.85G>A	c.(85-87)Gac>Aac	p.D29N	C1orf112_ENST00000359326.4_Missense_Mutation_p.D29N|C1orf112_ENST00000456684.1_Missense_Mutation_p.D87N|C1orf112_ENST00000413811.2_5'UTR|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	29										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTATTCGATGACATGATGTA	0.323																																																	0													65.0	69.0	67.0					1																	169771780		2203	4298	6501	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.85G>A	1.37:g.169771780G>A	ENSP00000286031:p.Asp29Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.D29N	ENST00000286031.6	37	c.85	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168485	0.38315	.	.	ENSG00000000460	ENST00000359326;ENST00000456684;ENST00000286031	T;T;T	0.69306	0.98;-0.39;0.98	5.91	5.0	0.66597	.	0.562433	0.21736	N	0.069889	T	0.37785	0.1016	L	0.46157	1.445	0.80722	D	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.31280	-0.9949	10	0.19590	T	0.45	-1.0488	7.8567	0.29487	0.2353:0.0:0.7647:0.0	.	29;87	Q9NSG2;B4DRP7	CA112_HUMAN;.	N	29;87;29	ENSP00000352276:D29N;ENSP00000415583:D87N;ENSP00000286031:D29N	ENSP00000286031:D29N	D	+	1	0	C1orf112	168038404	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.677000	0.46892	1.502000	0.48669	0.655000	0.94253	GAC	C1orf112	-	NULL		0.323	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	G	NM_018186		169771780	+1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	0.997	A
C5AR1	728	genome.wustl.edu	37	19	47823477	47823477	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:47823477G>A	ENST00000355085.3	+	2	465	c.443G>A	c.(442-444)cGa>cAa	p.R148Q		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	148					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CAGAACTTCCGAGGGGCTGGC	0.612																																																	0													74.0	76.0	75.0					19																	47823477		2203	4300	6503	SO:0001583	missense	728				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.443G>A	19.37:g.47823477G>A	ENSP00000347197:p.Arg148Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Frt_met_rcpt	p.R148Q	ENST00000355085.3	37	c.443	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765626	0.49574	.	.	ENSG00000197405	ENST00000355085	T	0.39229	1.09	4.67	3.64	0.41730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.63546	0.2520	M	0.89353	3.025	0.40379	D	0.979427	D	0.64830	0.994	P	0.62491	0.903	T	0.67452	-0.5667	10	0.46703	T	0.11	.	9.9838	0.41830	0.0975:0.0:0.9025:0.0	.	148	P21730	C5AR_HUMAN	Q	148	ENSP00000347197:R148Q	ENSP00000347197:R148Q	R	+	2	0	C5AR1	52515317	1.000000	0.71417	0.259000	0.24435	0.537000	0.34900	7.919000	0.87513	0.951000	0.37770	0.478000	0.44815	CGA	C5AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_C5A_anaphtx_rcpt,prints_Frt_met_rcpt		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	G	NM_001736		47823477	+1	no_errors	ENST00000355085	ensembl	human	known	70_37	missense	SNP	0.882	A
CASP10	843	genome.wustl.edu	37	2	202074061	202074061	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:202074061C>T	ENST00000272879.5	+	9	1375	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CASP10_ENST00000313728.7_Silent_p.F330F|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Silent_p.F354F|CASP10_ENST00000346817.5_Silent_p.F354F|CASP10_ENST00000286186.6_Silent_p.F397F	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	397					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						AACTCTTTTTCATCCAGGCCT	0.522																																																	0													74.0	69.0	70.0					2																	202074061		2203	4300	6503	SO:0001819	synonymous_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1191C>T	2.37:g.202074061C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Silent	SNP	pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.F397	ENST00000272879.5	37	c.1191	CCDS2338.1	2																																																																																			CASP10	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.522	CASP10-002	KNOWN	basic|CCDS	protein_coding	CASP10	HGNC	protein_coding	OTTHUMT00000256273.1	C	NM_032977		202074061	+1	no_errors	ENST00000286186	ensembl	human	known	70_37	silent	SNP	0.959	T
CC2D1A	54862	genome.wustl.edu	37	19	14041055	14041055	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:14041055G>A	ENST00000318003.7	+	28	3029	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	CC2D1A_ENST00000589606.1_Splice_Site_p.D929N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	930					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TCCCCCACAGGATGCTGCAAA	0.642																																																	0													146.0	162.0	156.0					19																	14041055		2043	4160	6203	SO:0001630	splice_region_variant	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2788-1G>A	19.37:g.14041055G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.D930N	ENST00000318003.7	37	c.2788	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263492	0.39995	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.30714	1.52	4.36	4.36	0.52297	.	0.350785	0.25324	N	0.031495	T	0.28067	0.0692	L	0.46157	1.445	0.24311	N	0.995082	B;B;B	0.30361	0.072;0.277;0.22	B;B;B	0.32533	0.062;0.109;0.147	T	0.14504	-1.0470	9	.	.	.	-9.5822	12.3889	0.55348	0.0:0.0:1.0:0.0	.	551;929;930	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	N	930;552	ENSP00000313601:D930N	.	D	+	1	0	CC2D1A	13902055	1.000000	0.71417	0.983000	0.44433	0.165000	0.22458	7.052000	0.76634	1.980000	0.57719	0.457000	0.33378	GAT	CC2D1A	-	NULL		0.642	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721	Missense_Mutation	14041055	+1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC34	91057	genome.wustl.edu	37	11	27384593	27384593	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:27384593G>A	ENST00000328697.6	-	1	822	c.149C>T	c.(148-150)tCg>tTg	p.S50L	CCDC34_ENST00000317945.6_Missense_Mutation_p.S50L	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	50										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						CGGCGACGGCGAGCGCACCAC	0.662																																																	0													55.0	53.0	54.0					11																	27384593		2202	4299	6501	SO:0001583	missense	91057			AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.149C>T	11.37:g.27384593G>A	ENSP00000330240:p.Ser50Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	NULL	p.S50L	ENST00000328697.6	37	c.149	CCDS31448.1	11	.	.	.	.	.	.	.	.	.	.	G	4.307	0.056170	0.08291	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.27890	3.29;1.64	4.3	2.36	0.29203	.	6.628220	0.00575	N	0.000317	T	0.20333	0.0489	N	0.19112	0.55	0.09310	N	1	B;B	0.24132	0.098;0.007	B;B	0.16722	0.016;0.003	T	0.14896	-1.0456	10	0.22109	T	0.4	17.1675	4.6381	0.12534	0.1167:0.0:0.6664:0.2169	.	50;50	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	L	50	ENSP00000330240:S50L;ENSP00000321563:S50L	ENSP00000321563:S50L	S	-	2	0	CCDC34	27341169	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.093000	0.11111	0.508000	0.28173	-0.182000	0.12963	TCG	CCDC34	-	NULL		0.662	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC34	HGNC	protein_coding	OTTHUMT00000388396.2	G	NM_030771		27384593	-1	no_errors	ENST00000328697	ensembl	human	known	70_37	missense	SNP	0.003	A
CD6	923	genome.wustl.edu	37	11	60776277	60776277	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:60776277C>A	ENST00000313421.7	+	4	927	c.741C>A	c.(739-741)caC>caA	p.H247Q	CD6_ENST00000346437.4_Missense_Mutation_p.H247Q|CD6_ENST00000344028.5_Missense_Mutation_p.H247Q|CD6_ENST00000352009.5_Missense_Mutation_p.H247Q|CD6_ENST00000452451.2_Missense_Mutation_p.H247Q|CD6_ENST00000545105.1_Intron	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	247	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGGACAGCACTACTGCGGCC	0.667																																					Pancreas(169;904 2017 4767 38890 42505)												0													17.0	18.0	18.0					11																	60776277		2200	4297	6497	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.741C>A	11.37:g.60776277C>A	ENSP00000323280:p.His247Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.H247Q	ENST00000313421.7	37	c.741	CCDS7999.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.728|5.728	0.318699|0.318699	0.10845|0.10845	.|.	.|.	ENSG00000013725|ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009|ENST00000538611	T;T;T;T;T;T;T|.	0.35421|.	1.31;1.31;1.31;1.31;1.31;1.31;1.31|.	4.42|4.42	-3.41|-3.41	0.04839|0.04839	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);|.	0.636179|.	0.12997|.	N|.	0.421924|.	T|T	0.51261|0.51261	0.1664|0.1664	M|M	0.67517|0.67517	2.055|2.055	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.21452|.	0.035;0.028;0.016;0.056;0.002|.	B;B;B;B;B|.	0.30105|.	0.065;0.019;0.012;0.111;0.008|.	T|T	0.54912|0.54912	-0.8222|-0.8222	10|5	0.40728|.	T|.	0.16|.	.|.	12.0958|12.0958	0.53755|0.53755	0.0:0.3661:0.5305:0.1034|0.0:0.3661:0.5305:0.1034	.|.	247;247;247;247;247|.	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7|.	.;.;.;CD6_HUMAN;.|.	Q|N	247|91	ENSP00000344108:H247Q;ENSP00000345566:H247Q;ENSP00000323280:H247Q;ENSP00000440055:H247Q;ENSP00000410638:H247Q;ENSP00000390676:H247Q;ENSP00000340628:H247Q|.	ENSP00000323280:H247Q|.	H|T	+|+	3|2	2|0	CD6|CD6	60532853|60532853	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.013000|0.013000	0.08279|0.08279	-1.157000|-1.157000	0.03157|0.03157	-0.479000|-0.479000	0.06813|0.06813	0.655000|0.655000	0.94253|0.94253	CAC|ACT	CD6	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.667	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD6	HGNC	protein_coding	OTTHUMT00000396449.1	C	NM_006725		60776277	+1	no_errors	ENST00000313421	ensembl	human	known	70_37	missense	SNP	0.000	A
CDK5RAP2	55755	genome.wustl.edu	37	9	123298654	123298654	+	Missense_Mutation	SNP	C	C	G	rs201528173		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr9:123298654C>G	ENST00000349780.4	-	7	837	c.658G>C	c.(658-660)Gac>Cac	p.D220H	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D220H|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D220H|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D220H	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	220					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CCAGACCTGTCTTTCTCATCC	0.498																																																	0													139.0	122.0	128.0					9																	123298654		2203	4300	6503	SO:0001583	missense	55755			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.658G>C	9.37:g.123298654C>G	ENSP00000343818:p.Asp220His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.D220H	ENST00000349780.4	37	c.658	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918359	0.73098	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000345313	T;T;T;T	0.05580	3.55;3.42;3.51;3.42	5.39	5.39	0.77823	.	0.353602	0.24233	N	0.040326	T	0.22513	0.0543	L	0.57536	1.79	0.39754	D	0.971923	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.979;0.979;0.999;0.968	T	0.00258	-1.1871	10	0.72032	D	0.01	.	16.0686	0.80907	0.0:1.0:0.0:0.0	.	21;220;220;220	Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8	.;.;.;CK5P2_HUMAN	H	220;220;220;220;222	ENSP00000354065:D220H;ENSP00000352258:D220H;ENSP00000343818:D220H;ENSP00000353317:D220H	ENSP00000341695:D222H	D	-	1	0	CDK5RAP2	122338475	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.412000	0.59787	2.521000	0.84997	0.557000	0.71058	GAC	CDK5RAP2	-	NULL		0.498	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	C	NM_018249		123298654	-1	no_errors	ENST00000349780	ensembl	human	known	70_37	missense	SNP	1.000	G
CDR2	1039	genome.wustl.edu	37	16	22359077	22359077	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:22359077C>G	ENST00000268383.2	-	5	881	c.574G>C	c.(574-576)Gaa>Caa	p.E192Q		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	192						cytoplasm (GO:0005737)				endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TTTTCCTCTTCATCAGGGCTT	0.453																																																	0													118.0	106.0	110.0					16																	22359077		2197	4300	6497	SO:0001583	missense	1039			M63256	CCDS32404.1	16p13.1-p12	2008-02-05	2002-08-29			ENSG00000140743			1799	protein-coding gene	gene with protein product	"""Yo paraneoplastic antigen"""	117340	"""cerebellar degeneration-related protein (62kD)"""			2014264	Standard	NM_001802		Approved	CDR62, Yo	uc002dkn.3	Q01850		ENST00000268383.2:c.574G>C	16.37:g.22359077C>G	ENSP00000268383:p.Glu192Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8A8|Q13977	Missense_Mutation	SNP	NULL	p.E192Q	ENST00000268383.2	37	c.574	CCDS32404.1	16	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125296	0.77436	.	.	ENSG00000140743	ENST00000268383	T	0.30182	1.54	5.58	5.58	0.84498	.	0.225081	0.43919	D	0.000513	T	0.47691	0.1459	L	0.58583	1.82	0.58432	D	0.999993	D	0.61080	0.989	P	0.55923	0.787	T	0.23048	-1.0199	10	0.34782	T	0.22	-7.4963	19.5747	0.95438	0.0:1.0:0.0:0.0	.	192	Q01850	CDR2_HUMAN	Q	192	ENSP00000268383:E192Q	ENSP00000268383:E192Q	E	-	1	0	CDR2	22266578	1.000000	0.71417	0.356000	0.25785	0.650000	0.38633	5.299000	0.65716	2.618000	0.88619	0.655000	0.94253	GAA	CDR2	-	NULL		0.453	CDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR2	HGNC	protein_coding	OTTHUMT00000430081.1	C			22359077	-1	no_errors	ENST00000268383	ensembl	human	known	70_37	missense	SNP	0.984	G
CEP192	55125	genome.wustl.edu	37	18	13099491	13099491	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:13099491C>T	ENST00000325971.8	+	35	6379	c.4786C>T	c.(4786-4788)Ctt>Ttt	p.L1596F	CEP192_ENST00000506447.1_Missense_Mutation_p.L2192F|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1717F			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1596					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACTACAAATTCTTGTGAGTCC	0.338																																																	0													92.0	90.0	91.0					18																	13099491		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4786C>T	18.37:g.13099491C>T	ENSP00000317156:p.Leu1596Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.L2192F	ENST00000325971.8	37	c.6574		18	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734565	0.89482	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.14022	2.56;2.54;2.57	5.66	5.66	0.87406	.	0.147861	0.45867	D	0.000328	T	0.37156	0.0993	M	0.62723	1.935	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.981;1.0;1.0	D;P;D;D	0.79784	0.993;0.855;0.993;0.988	T	0.01228	-1.1412	10	0.45353	T	0.12	-22.4564	19.3367	0.94322	0.0:1.0:0.0:0.0	.	1717;2192;196;794	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	F	2192;1596;1596;1717;196	ENSP00000427550:L2192F;ENSP00000317156:L1596F;ENSP00000389190:L1717F	ENSP00000317156:L1596F	L	+	1	0	CEP192	13089491	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.677000	0.61634	2.674000	0.91012	0.650000	0.86243	CTT	CEP192	-	NULL		0.338	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13099491	+1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	T
CHERP	10523	genome.wustl.edu	37	19	16640543	16640543	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:16640543C>G	ENST00000198939.6	-	8	1114	c.1078G>C	c.(1078-1080)Gct>Cct	p.A360P	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000546361.2_Missense_Mutation_p.A349P					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTGACTTCAGCCTCCATCTGC	0.682																																																	0													23.0	30.0	28.0					19																	16640543		2197	4286	6483	SO:0001583	missense	10523			U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1078G>C	19.37:g.16640543C>G	ENSP00000198939:p.Ala360Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.A349P	ENST00000198939.6	37	c.1045		19	.	.	.	.	.	.	.	.	.	.	C	4.952	0.176914	0.09443	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	D;D	0.87103	-2.21;-2.21	4.17	0.274	0.15654	.	.	.	.	.	T	0.66177	0.2763	N	0.04508	-0.205	0.09310	N	1	P	0.44578	0.838	B	0.38655	0.278	T	0.60801	-0.7191	9	0.26408	T	0.33	-4.6049	3.4715	0.07569	0.0:0.3545:0.2031:0.4424	.	349	Q8IWX8	CHERP_HUMAN	P	349;360	ENSP00000439856:A349P;ENSP00000198939:A360P	ENSP00000198939:A360P	A	-	1	0	CHERP	16501543	0.001000	0.12720	0.024000	0.17045	0.077000	0.17291	0.179000	0.16840	0.346000	0.23899	-0.224000	0.12420	GCT	CHERP	-	NULL		0.682	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	CHERP	HGNC	protein_coding	OTTHUMT00000403372.1	C	NM_006387		16640543	-1	no_errors	ENST00000546361	ensembl	human	known	70_37	missense	SNP	0.000	G
CLDN18	51208	genome.wustl.edu	37	3	137729133	137729133	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:137729133C>T	ENST00000183605.5	+	1	292	c.66C>T	c.(64-66)atC>atT	p.I22I	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	22					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	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)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CCGGCTGCATCGCGGCCACCG	0.667																																																	0													42.0	41.0	41.0					3																	137729133		2203	4300	6503	SO:0001819	synonymous_variant	51208			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.66C>T	3.37:g.137729133C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL21|Q96PH4	Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin	p.I22	ENST00000183605.5	37	c.66	CCDS3095.1	3																																																																																			CLDN18	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18		0.667	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	HGNC	protein_coding	OTTHUMT00000357199.2	C	NM_001002026		137729133	+1	no_errors	ENST00000183605	ensembl	human	known	70_37	silent	SNP	0.042	T
CLIP3	25999	genome.wustl.edu	37	19	36508769	36508769	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:36508769C>T	ENST00000360535.4	-	10	1535	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Silent_p.G436G	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	436	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.				chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGTCTGTCTTCCCGTAGAAGC	0.627																																																	0													103.0	95.0	98.0					19																	36508769		2203	4300	6503	SO:0001819	synonymous_variant	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1308G>A	19.37:g.36508769C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Silent	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.G436	ENST00000360535.4	37	c.1308	CCDS12486.1	19																																																																																			CLIP3	-	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain		0.627	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	C	NM_015526		36508769	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	silent	SNP	0.993	T
CNOT1	23019	genome.wustl.edu	37	16	58577399	58577399	+	Intron	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:58577399G>A	ENST00000317147.5	-	31	4767				CNOT1_ENST00000569240.1_Intron|CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.H1516Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|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 stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		caaatatggtgattattaaga	0.308																																																	0													41.0	47.0	45.0					16																	58577399		1270	2282	3552	SO:0001627	intron_variant	23019			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4434+111C>T	16.37:g.58577399G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H1516Y	ENST00000317147.5	37	c.4546	CCDS10799.1	16	.	.	.	.	.	.	.	.	.	.	G	9.159	1.018271	0.19355	.	.	ENSG00000125107	ENST00000441024	T	0.44482	0.92	3.11	-0.256	0.12984	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	8	0.87932	D	0	.	3.5485	0.07837	0.2593:0.2108:0.5299:0.0	.	1516	A5YKK6-4	.	Y	1516	ENSP00000413113:H1516Y	ENSP00000413113:H1516Y	H	-	1	0	CNOT1	57134900	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.578000	0.00908	-0.119000	0.11830	-0.225000	0.12378	CAC	CNOT1	-	NULL		0.308	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	G	NM_016284		58577399	-1	no_errors	ENST00000441024	ensembl	human	known	70_37	missense	SNP	0.000	A
COL22A1	169044	genome.wustl.edu	37	8	139629165	139629165	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:139629165C>T	ENST00000303045.6	-	54	4308	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCGGGGACCGGGTGCACCA	0.587										HNSCC(7;0.00092)																																							0													67.0	69.0	68.0					8																	139629165		2203	4300	6503	SO:0001583	missense	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3862G>A	8.37:g.139629165C>T	ENSP00000303153:p.Gly1288Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.G1288S	ENST00000303045.6	37	c.3862	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252523	0.39797	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99329	-5.75;-5.75	4.35	4.35	0.52113	.	0.281024	0.24791	N	0.035575	D	0.99704	0.9887	H	0.99634	4.67	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97160	0.9837	10	0.87932	D	0	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	1268;1288	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1288;1268;981	ENSP00000303153:G1288S;ENSP00000387655:G1268S	ENSP00000303153:G1288S	G	-	1	0	COL22A1	139698347	0.997000	0.39634	0.990000	0.47175	0.154000	0.21943	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	GGT	COL22A1	-	pfam_Collagen		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	C	XM_291257		139629165	-1	no_errors	ENST00000303045	ensembl	human	known	70_37	missense	SNP	0.992	T
CPSF4	10898	genome.wustl.edu	37	7	99051700	99051700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:99051700C>T	ENST00000292476.5	+	7	692	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ATP5J2-PTCD1_ENST00000437572.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000436336.2_Nonsense_Mutation_p.Q203*|CPSF4_ENST00000441580.1_Nonsense_Mutation_p.Q150*|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Nonsense_Mutation_p.Q170*			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	228					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATGCAGAGTCAAAACAGCAG	0.592																																																	0													101.0	114.0	110.0					7																	99051700		2203	4300	6503	SO:0001587	stop_gained	10898				CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.682C>T	7.37:g.99051700C>T	ENSP00000292476:p.Gln228*	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Nonsense_Mutation	SNP	pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q228*	ENST00000292476.5	37	c.682	CCDS5664.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.25|19.25	3.790727|3.790727	0.70452|0.70452	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580|ENST00000440514	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.100076|.	0.64402|.	D|.	0.000001|.	.|T	.|0.81795	.|0.4898	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.82619	.|-0.0368	.|4	0.06099|0.59425	T|D	0.92|0.04	-10.583|-10.583	19.7534|19.7534	0.96277|0.96277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	203;170;228;150|109	.|.	ENSP00000292476:Q228X|ENSP00000415188:S109L	Q|S	+|+	1|2	0|0	CPSF4|CPSF4	98889636|98889636	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.379000|5.379000	0.66196|0.66196	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	CAA|TCA	CPSF4	-	superfamily_Znf_CCHC		0.592	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CPSF4	HGNC	protein_coding	OTTHUMT00000336254.1	C			99051700	+1	no_errors	ENST00000292476	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CSGALNACT1	55790	genome.wustl.edu	37	8	19363168	19363168	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:19363168C>T	ENST00000454498.2	-	4	1191	c.178G>A	c.(178-180)Gtc>Atc	p.V60I	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.V60I|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.V60I|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.V60I|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.V60I	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	60					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TCCTGAAGGACGGCCTGGTAC	0.632																																																	0													77.0	65.0	69.0					8																	19363168		2203	4300	6503	SO:0001583	missense	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.178G>A	8.37:g.19363168C>T	ENSP00000411816:p.Val60Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.V60I	ENST00000454498.2	37	c.178	CCDS6010.1	8	.	.	.	.	.	.	.	.	.	.	C	9.812	1.183345	0.21870	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602;ENST00000523262;ENST00000517494	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.66	1.82	0.25136	.	0.537923	0.20740	N	0.086545	T	0.10078	0.0247	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28964	-1.0027	10	0.20519	T	0.43	-12.1913	5.735	0.18061	0.1441:0.6113:0.0:0.2446	.	60	Q8TDX6	CGAT1_HUMAN	I	60	ENSP00000411816:V60I;ENSP00000330805:V60I;ENSP00000310891:V60I;ENSP00000429809:V60I;ENSP00000442155:V60I	ENSP00000310891:V60I	V	-	1	0	CSGALNACT1	19407448	0.745000	0.28261	0.001000	0.08648	0.955000	0.61496	2.749000	0.47492	0.758000	0.33059	-0.127000	0.14921	GTC	CSGALNACT1	-	NULL		0.632	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	C	NM_018371		19363168	-1	no_errors	ENST00000311540	ensembl	human	known	70_37	missense	SNP	0.001	T
CSTB	1476	genome.wustl.edu	37	21	45194154	45194154	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr21:45194154C>T	ENST00000291568.5	-	3	401	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	76					adult locomotory behavior (GO:0008344)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		GGCTTGTTTTCATGAGGGAGA	0.522																																					Esophageal Squamous(58;831 1093 17019 29789 35147)												0													244.0	211.0	222.0					21																	45194154		2203	4300	6503	SO:0001583	missense	1476			L03558	CCDS13701.1	21q22.3	2014-09-17			ENSG00000160213	ENSG00000160213			2482	protein-coding gene	gene with protein product		601145		EPM1, STFB		8596935	Standard	NM_000100		Approved	CST6, PME	uc002zdr.4	P04080	OTTHUMG00000086886	ENST00000291568.5:c.226G>A	21.37:g.45194154C>T	ENSP00000291568:p.Glu76Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Prot_inh_stefinA	p.E76K	ENST00000291568.5	37	c.226	CCDS13701.1	21	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692014	0.48097	.	.	ENSG00000160213	ENST00000291568	T	0.77750	-1.12	5.46	5.46	0.80206	Proteinase inhibitor I25, cystatin (2);	0.237197	0.42053	D	0.000767	T	0.70631	0.3246	.	.	.	0.28571	N	0.910636	B	0.23854	0.092	B	0.31547	0.132	T	0.62760	-0.6786	9	0.30078	T	0.28	-13.3196	14.8177	0.70048	0.0:1.0:0.0:0.0	.	76	P04080	CYTB_HUMAN	K	76	ENSP00000291568:E76K	ENSP00000291568:E76K	E	-	1	0	CSTB	44018582	0.941000	0.31946	0.147000	0.22382	0.530000	0.34684	4.046000	0.57376	2.565000	0.86533	0.561000	0.74099	GAA	CSTB	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.522	CSTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTB	HGNC	protein_coding	OTTHUMT00000195689.1	C	NM_000100		45194154	-1	no_errors	ENST00000291568	ensembl	human	known	70_37	missense	SNP	0.474	T
CUX1	1523	genome.wustl.edu	37	7	101844749	101844749	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:101844749C>T	ENST00000292535.7	+	18	2210	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.L668L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Silent_p.L566L|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.L735L|CUX1_ENST00000546411.2_Silent_p.L622L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Silent_p.L702L	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	724					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGCTGCCCTCGACCCTGCCT	0.652																																																	0													107.0	107.0	107.0					7																	101844749		2203	4300	6503	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2172C>T	7.37:g.101844749C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.L735	ENST00000292535.7	37	c.2205	CCDS5721.1	7																																																																																			CUX1	-	NULL		0.652	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	C	NM_001913		101844749	+1	no_errors	ENST00000360264	ensembl	human	known	70_37	silent	SNP	0.666	T
CYP2C9	1559	genome.wustl.edu	37	10	96741048	96741048	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:96741048G>C	ENST00000260682.6	+	7	1082	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	357					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAGGTCCAGAGATACATTGAC	0.507																																					Ovarian(54;1266 1406 16072 35076)												0													202.0	165.0	178.0					10																	96741048		2203	4300	6503	SO:0001583	missense	1559			M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1070G>C	10.37:g.96741048G>C	ENSP00000260682:p.Arg357Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R357T	ENST00000260682.6	37	c.1070	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	16.29	3.081806	0.55861	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	D	0.97480	-4.4	3.78	3.78	0.43462	.	0.000000	0.64402	U	0.000002	D	0.99026	0.9667	H	0.98594	4.275	0.44067	D	0.996817	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98648	1.0678	10	0.87932	D	0	.	13.4839	0.61353	0.0:0.0:1.0:0.0	.	357;357	Q5VX92;P11712	.;CP2C9_HUMAN	T	357	ENSP00000260682:R357T	ENSP00000260682:R357T	R	+	2	0	CYP2C9	96731038	1.000000	0.71417	0.998000	0.56505	0.253000	0.25986	8.432000	0.90288	2.124000	0.65301	0.305000	0.20034	AGA	CYP2C9	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.507	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	HGNC	protein_coding	OTTHUMT00000049501.1	G	NM_000771		96741048	+1	no_errors	ENST00000260682	ensembl	human	known	70_37	missense	SNP	1.000	C
DAPK2	23604	genome.wustl.edu	37	15	64204182	64204182	+	Silent	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:64204182G>A	ENST00000457488.1	-	11	987	c.957C>T	c.(955-957)ttC>ttT	p.F319F	DAPK2_ENST00000261891.3_Silent_p.F319F	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	319	Calmodulin-binding.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACACGATGCTGAAGGAAAGCT	0.597																																																	0													63.0	49.0	54.0					15																	64204182		2203	4300	6503	SO:0001819	synonymous_variant	23604			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.957C>T	15.37:g.64204182G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F319	ENST00000457488.1	37	c.957	CCDS10188.1	15																																																																																			DAPK2	-	superfamily_Kinase-like_dom		0.597	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	G	NM_014326		64204182	-1	no_errors	ENST00000261891	ensembl	human	known	70_37	silent	SNP	1.000	A
DCHS1	8642	genome.wustl.edu	37	11	6649939	6649939	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:6649939C>G	ENST00000299441.3	-	13	5695	c.5284G>C	c.(5284-5286)Gag>Cag	p.E1762Q	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1762	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGCCCTCAGGCACCTCC	0.572																																																	0													97.0	90.0	93.0					11																	6649939		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5284G>C	11.37:g.6649939C>G	ENSP00000299441:p.Glu1762Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1762Q	ENST00000299441.3	37	c.5284	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582546	0.86748	.	.	ENSG00000166341	ENST00000299441	T	0.75938	-0.98	4.64	4.64	0.57946	Cadherin (3);Cadherin-like (1);	0.000000	0.45606	D	0.000345	D	0.89252	0.6662	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92002	0.5611	10	0.87932	D	0	.	16.6813	0.85292	0.0:1.0:0.0:0.0	.	1762	Q96JQ0	PCD16_HUMAN	Q	1762	ENSP00000299441:E1762Q	ENSP00000299441:E1762Q	E	-	1	0	DCHS1	6606515	1.000000	0.71417	0.978000	0.43139	0.733000	0.41908	7.402000	0.79972	2.421000	0.82119	0.563000	0.77884	GAG	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.572	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6649939	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	G
DDRGK1	65992	genome.wustl.edu	37	20	3175951	3175951	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr20:3175951C>T	ENST00000354488.3	-	5	616	c.559G>A	c.(559-561)Gag>Aag	p.E187K	DDRGK1_ENST00000380201.2_Missense_Mutation_p.E187K	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	187						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						AGGTACTCCTCATGCTCCCGC	0.622																																																	0													144.0	118.0	126.0					20																	3175951		2203	4300	6503	SO:0001583	missense	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.559G>A	20.37:g.3175951C>T	ENSP00000346483:p.Glu187Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	pfam_DDRGK_dom-contain	p.E187K	ENST00000354488.3	37	c.559	CCDS13050.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.077237	0.94000	.	.	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.55234	0.53	4.48	4.48	0.54585	.	0.053754	0.64402	D	0.000001	T	0.71660	0.3366	M	0.77820	2.39	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.79108	0.99;0.992	T	0.74272	-0.3719	10	0.49607	T	0.09	-5.0282	14.6769	0.68986	0.0:1.0:0.0:0.0	.	187;187	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	K	187	ENSP00000346483:E187K	ENSP00000346483:E187K	E	-	1	0	DDRGK1	3123951	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.392000	0.73213	2.313000	0.78055	0.563000	0.77884	GAG	DDRGK1	-	pfam_DDRGK_dom-contain		0.622	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	C	NM_023935		3175951	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	missense	SNP	1.000	T
DEGS2	123099	genome.wustl.edu	37	14	100615443	100615443	+	Silent	SNP	G	G	A	rs145891510		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2									p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622																																																	2	Substitution - coding silent(2)	lung(2)						G		0,4406		0,0,2203	61.0	73.0	69.0		687	-5.1	0.8	14	dbSNP_134	69	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DEGS2	NM_206918.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		229/324	100615443	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	123099				CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.687C>T	14.37:g.100615443G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.F229	ENST00000305631.5	37	c.687	CCDS9956.1	14																																																																																			DEGS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase		0.622	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS2	HGNC	protein_coding	OTTHUMT00000414003.1	G	NM_206918		100615443	-1	no_errors	ENST00000305631	ensembl	human	known	70_37	silent	SNP	0.994	A
DEK	7913	genome.wustl.edu	37	6	18236826	18236826	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:18236826C>G	ENST00000397239.3	-	9	1351	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	DEK_ENST00000244776.7_Missense_Mutation_p.E268Q	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	302	Asp/Glu-rich (acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TCCTCAGACTCACTTTCTAAA	0.284			T	NUP214	AML																																			Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													46.0	48.0	47.0					6																	18236826		2199	4293	6492	SO:0001583	missense	7913			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.904G>C	6.37:g.18236826C>G	ENSP00000380414:p.Glu302Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	pfam_DEK_C,pfam_SAP_DNA-bd,smart_SAP_DNA-bd	p.E302Q	ENST00000397239.3	37	c.904	CCDS34344.1	6	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807454	0.90623	.	.	ENSG00000124795	ENST00000397239;ENST00000244776;ENST00000507591	T;T	0.48522	0.82;0.81	5.74	5.74	0.90152	.	0.275968	0.39475	N	0.001346	T	0.40886	0.1135	M	0.64997	1.995	0.58432	D	0.999996	P;B	0.38440	0.631;0.32	B;B	0.37422	0.249;0.249	T	0.42649	-0.9439	10	0.52906	T	0.07	-9.3649	20.2982	0.98569	0.0:1.0:0.0:0.0	.	268;302	B4DN37;P35659	.;DEK_HUMAN	Q	302;268;78	ENSP00000380414:E302Q;ENSP00000244776:E268Q	ENSP00000244776:E268Q	E	-	1	0	DEK	18344805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.324000	0.59228	2.873000	0.98535	0.563000	0.77884	GAG	DEK	-	NULL		0.284	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEK	HGNC	protein_coding	OTTHUMT00000039962.4	C			18236826	-1	no_errors	ENST00000397239	ensembl	human	known	70_37	missense	SNP	1.000	G
DIRAS1	148252	genome.wustl.edu	37	19	2717432	2717432	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:2717432C>T	ENST00000323469.4	-	2	556	c.373G>A	c.(373-375)Gag>Aag	p.E125K	DIRAS1_ENST00000585334.1_Missense_Mutation_p.E125K	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	125					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CGCTGCGTCTCATCGCACTTG	0.622																																																	0													76.0	63.0	67.0					19																	2717432		2202	4300	6502	SO:0001583	missense	148252			BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.373G>A	19.37:g.2717432C>T	ENSP00000325836:p.Glu125Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E125K	ENST00000323469.4	37	c.373	CCDS12092.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.204214	0.95033	.	.	ENSG00000176490	ENST00000323469	T	0.68903	-0.36	4.21	4.21	0.49690	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.60051	0.2239	N	0.13299	0.325	0.80722	D	1	P	0.49447	0.924	P	0.52189	0.692	T	0.64232	-0.6456	10	0.45353	T	0.12	.	14.0762	0.64891	0.0:1.0:0.0:0.0	.	125	O95057	DIRA1_HUMAN	K	125	ENSP00000325836:E125K	ENSP00000325836:E125K	E	-	1	0	DIRAS1	2668432	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.539000	0.82063	1.898000	0.54952	0.549000	0.68633	GAG	DIRAS1	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.622	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS1	HGNC	protein_coding	OTTHUMT00000451350.1	C			2717432	-1	no_errors	ENST00000323469	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH17	8632	genome.wustl.edu	37	17	76501504	76501504	+	Silent	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:76501504G>C	ENST00000585328.1	-	31	4942	c.4818C>G	c.(4816-4818)ctC>ctG	p.L1606L	DNAH17_ENST00000389840.5_Silent_p.L1605L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1605	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCTATCGAAGAGTTTGGACA	0.547																																																	0													72.0	70.0	71.0					17																	76501504		2006	4168	6174	SO:0001819	synonymous_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4818C>G	17.37:g.76501504G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.L1605	ENST00000585328.1	37	c.4815		17																																																																																			DNAH17	-	pfam_Dynein_heavy_dom-2		0.547	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76501504	-1	no_errors	ENST00000389840	ensembl	human	known	70_37	silent	SNP	0.973	C
DPP6	1804	genome.wustl.edu	37	7	154379724	154379724	+	Intron	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:154379724C>G	ENST00000377770.3	+	6	768				DPP6_ENST00000406326.1_Missense_Mutation_p.S331W|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGTGAGGCATCGCATCTGCTC	0.612																																					NSCLC(125;1384 1783 2490 7422 34254)												0													145.0	131.0	135.0					7																	154379724		876	1991	2867	SO:0001627	intron_variant	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-49807C>G	7.37:g.154379724C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S331W	ENST00000377770.3	37	c.992		7	.	.	.	.	.	.	.	.	.	.	C	7.197	0.592634	0.13875	.	.	ENSG00000130226	ENST00000406326	.	.	.	3.15	3.15	0.36227	.	.	.	.	.	T	0.62405	0.2425	.	.	.	0.29293	N	0.869225	D	0.71674	0.998	D	0.65684	0.937	T	0.56679	-0.7939	7	0.87932	D	0	.	10.0797	0.42381	0.0:1.0:0.0:0.0	.	331	Q8IYG9	.	W	331	.	ENSP00000384393:S331W	S	+	2	0	DPP6	154010657	0.002000	0.14202	0.003000	0.11579	0.107000	0.19398	0.533000	0.23082	2.036000	0.60181	0.462000	0.41574	TCG	DPP6	-	NULL		0.612	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	C	NM_130797		154379724	+1	no_errors	ENST00000406326	ensembl	human	putative	70_37	missense	SNP	0.003	G
DRD5	1816	genome.wustl.edu	37	4	9784379	9784379	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:9784379C>T	ENST00000304374.2	+	1	1122	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	242					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CCATCATGATCGTGACCTACA	0.602																																																	0													64.0	55.0	58.0					4																	9784379		2203	4300	6503	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.726C>T	4.37:g.9784379C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9S3|Q8NEQ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.I242	ENST00000304374.2	37	c.726	CCDS3405.1	4																																																																																			DRD5	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.602	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	C			9784379	+1	no_errors	ENST00000304374	ensembl	human	known	70_37	silent	SNP	1.000	T
E4F1	1877	genome.wustl.edu	37	16	2283533	2283533	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:2283533G>C	ENST00000301727.4	+	8	1199	c.1151G>C	c.(1150-1152)cGc>cCc	p.R384P	DNASE1L2_ENST00000564065.1_5'Flank|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000564139.1_Missense_Mutation_p.R384P|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	384	Mediates interaction with CDKN2A.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GTCCTTGAGCGCGCTGCTGGG	0.706																																																	0													11.0	13.0	12.0					16																	2283533		2178	4280	6458	SO:0001583	missense	1877			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1151G>C	16.37:g.2283533G>C	ENSP00000301727:p.Arg384Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R4|O00146	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R384P	ENST00000301727.4	37	c.1151	CCDS32370.1	16	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311491	0.23821	.	.	ENSG00000167967	ENST00000301727	T	0.06933	3.24	5.06	5.06	0.68205	.	0.168222	0.46442	D	0.000286	T	0.24044	0.0582	L	0.56769	1.78	0.21355	N	0.999712	D	0.71674	0.998	D	0.79108	0.992	T	0.01935	-1.1244	10	0.87932	D	0	-21.4991	12.8323	0.57752	0.0:0.1645:0.8355:0.0	.	384	Q66K89	E4F1_HUMAN	P	384	ENSP00000301727:R384P	ENSP00000301727:R384P	R	+	2	0	E4F1	2223534	0.885000	0.30320	0.915000	0.36163	0.348000	0.29142	2.217000	0.42880	2.374000	0.81015	0.448000	0.29417	CGC	E4F1	-	NULL		0.706	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	HGNC	protein_coding	OTTHUMT00000435225.1	G	NM_004424		2283533	+1	no_errors	ENST00000301727	ensembl	human	known	70_37	missense	SNP	0.245	C
EGFR	1956	genome.wustl.edu	37	7	55249069	55249069	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:55249069C>G	ENST00000275493.2	+	20	2544	c.2367C>G	c.(2365-2367)atC>atG	p.I789M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.I744M|EGFR_ENST00000454757.2_Missense_Mutation_p.I736M|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	789	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCAGCTCATCACGCAGCTCA	0.607		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													106.0	91.0	96.0					7																	55249069		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2367C>G	7.37:g.55249069C>G	ENSP00000275493:p.Ile789Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I789M	ENST00000275493.2	37	c.2367	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187545	0.57909	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.86366	-2.11;-2.11;-2.11	5.92	2.79	0.32731	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.136175	0.64402	D	0.000003	D	0.91047	0.7183	M	0.69185	2.1	0.45852	D	0.998716	P;P	0.46142	0.56;0.873	P;P	0.62382	0.652;0.901	D	0.90197	0.4254	10	0.87932	D	0	.	11.3366	0.49507	0.1133:0.7464:0.0:0.1403	.	744;789	Q504U8;P00533	.;EGFR_HUMAN	M	744;659;789;736	ENSP00000415559:I744M;ENSP00000275493:I789M;ENSP00000395243:I736M	ENSP00000275493:I789M	I	+	3	3	EGFR	55216563	0.996000	0.38824	0.959000	0.39883	0.946000	0.59487	0.460000	0.21924	0.398000	0.25338	-0.797000	0.03246	ATC	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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		0.607	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55249069	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	1.000	G
EGFR	1956	genome.wustl.edu	37	7	55249134	55249134	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:55249134C>G	ENST00000275493.2	+	20	2609	c.2432C>G	c.(2431-2433)tCc>tGc	p.S811C	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.S766C|EGFR_ENST00000454757.2_Missense_Mutation_p.S758C|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	811	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AATATTGGCTCCCAGTACCTG	0.572		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													89.0	78.0	82.0					7																	55249134		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2432C>G	7.37:g.55249134C>G	ENSP00000275493:p.Ser811Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S811C	ENST00000275493.2	37	c.2432	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016002	0.93404	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.62364	0.03;0.03;0.03	5.92	5.92	0.95590	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79088	0.4387	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.937;1.0	T	0.79472	-0.1789	10	0.72032	D	0.01	.	18.8719	0.92319	0.0:1.0:0.0:0.0	.	766;811	Q504U8;P00533	.;EGFR_HUMAN	C	766;681;811;758	ENSP00000415559:S766C;ENSP00000275493:S811C;ENSP00000395243:S758C	ENSP00000275493:S811C	S	+	2	0	EGFR	55216628	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.788000	0.85771	2.795000	0.96236	0.655000	0.94253	TCC	EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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		0.572	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55249134	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	missense	SNP	1.000	G
ERCC4	2072	genome.wustl.edu	37	16	14025863	14025863	+	Intron	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:14025863G>C	ENST00000311895.7	+	6	982				CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA|ERCC4_ENST00000575156.1_Intron	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4						DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						tgGTCCAGCTGAACAGCGACA	0.502			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0																																										SO:0001627	intron_variant	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.974-151G>C	16.37:g.14025863G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV6|A8K111|O00140|Q8TD83	RNA	SNP	-	NULL	ENST00000311895.7	37	NULL	CCDS32390.1	16																																																																																			CTD-2135D7.2	-	-		0.502	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262732	Clone_based_vega_gene	protein_coding	OTTHUMT00000109634.2	G	NM_005236		14025863	-1	no_errors	ENST00000575137	ensembl	human	known	70_37	rna	SNP	0.000	C
EPHB6	2051	genome.wustl.edu	37	7	142563735	142563735	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:142563735G>C	ENST00000392957.2	+	9	1910	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	EPHB6_ENST00000442129.1_Missense_Mutation_p.E375Q|EPHB6_ENST00000411471.2_Missense_Mutation_p.E98Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	375	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCTCCCCAGGAGCTTTGGTT	0.632																																																	0													22.0	24.0	23.0					7																	142563735		2202	4299	6501	SO:0001583	missense	2051			D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1123G>C	7.37:g.142563735G>C	ENSP00000376684:p.Glu375Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E375Q	ENST00000392957.2	37	c.1123	CCDS5873.2	7	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281841	0.59758	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.56941	0.43;0.43;0.43	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168274	0.28262	N	0.015987	T	0.39517	0.1081	N	0.03608	-0.345	0.33194	D	0.551235	P	0.43938	0.822	P	0.48952	0.596	T	0.58544	-0.7618	10	0.66056	D	0.02	.	13.0241	0.58804	0.0:0.1619:0.8381:0.0	.	375	O15197	EPHB6_HUMAN	Q	375;375;98	ENSP00000376684:E375Q;ENSP00000410789:E375Q;ENSP00000409061:E98Q	ENSP00000376684:E375Q	E	+	1	0	EPHB6	142273857	0.998000	0.40836	0.993000	0.49108	0.581000	0.36288	3.051000	0.49885	2.289000	0.77006	0.462000	0.41574	GAG	EPHB6	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.632	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB6	HGNC	protein_coding	OTTHUMT00000341329.1	G			142563735	+1	no_errors	ENST00000392957	ensembl	human	known	70_37	missense	SNP	0.996	C
EPS8L1	54869	genome.wustl.edu	37	19	55594890	55594890	+	Intron	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:55594890G>A	ENST00000201647.6	+	13	1412				EPS8L1_ENST00000245618.5_Intron|EPS8L1_ENST00000586329.1_Silent_p.V435V|EPS8L1_ENST00000588359.1_Silent_p.V107V|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000592824.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1						positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GCCGGCAGGTGACCCAAGCGA	0.697																																					Ovarian(149;255 1863 3636 27051 29647)												0													7.0	9.0	9.0					19																	55594890		2147	4192	6339	SO:0001627	intron_variant	54869			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1356+3G>A	19.37:g.55594890G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Silent	SNP	pfam_PTB,superfamily_SH3_domain	p.V435	ENST00000201647.6	37	c.1305	CCDS12914.1	19																																																																																			EPS8L1	-	NULL		0.697	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	G	NM_017729		55594890	+1	no_errors	ENST00000586329	ensembl	human	novel	70_37	silent	SNP	0.990	A
EVI2B	2124	genome.wustl.edu	37	17	29631855	29631855	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:29631855C>T	ENST00000330927.4	-	2	927	c.773G>A	c.(772-774)aGa>aAa	p.R258K	EVI2B_ENST00000577894.1_Missense_Mutation_p.R258K|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.R273K	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	258						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCATTTTCTCTGATGTTATC	0.363																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)											101.0	96.0	98.0					17																	29631855		2203	4300	6503	SO:0001583	missense	2124				CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.773G>A	17.37:g.29631855C>T	ENSP00000333779:p.Arg258Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4A7	Missense_Mutation	SNP	NULL	p.R273K	ENST00000330927.4	37	c.818	CCDS11266.1	17	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926110	0.73327	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.61274	0.13;0.12	5.4	4.43	0.53597	.	0.000000	0.51477	D	0.000084	T	0.37758	0.1015	L	0.32530	0.975	0.51482	D	0.999927	P;B	0.36144	0.539;0.297	B;B	0.33799	0.17;0.112	T	0.25572	-1.0128	10	0.30078	T	0.28	-22.2515	2.241	0.04020	0.2516:0.4693:0.1278:0.1513	.	273;258	B7Z4A7;P34910	.;EVI2B_HUMAN	K	258;273	ENSP00000333779:R258K;ENSP00000439738:R273K	ENSP00000333779:R258K	R	-	2	0	EVI2B	26655981	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	1.298000	0.33412	1.282000	0.44496	0.591000	0.81541	AGA	EVI2B	-	NULL		0.363	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI2B	HGNC	protein_coding	OTTHUMT00000256349.2	C	NM_006495		29631855	-1	no_errors	ENST00000544462	ensembl	human	known	70_37	missense	SNP	0.732	T
FAIM3	9214	genome.wustl.edu	37	1	207078188	207078188	+	3'UTR	SNP	A	A	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:207078188A>T	ENST00000367091.3	-	0	1492				FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_3'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3						cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GTGCAAGACGACCTGGGGGCA	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	9214			AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.*176T>A	1.37:g.207078188A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7J2|B7Z6Z0|D9MWM3	RNA	SNP	-	NULL	ENST00000367091.3	37	NULL	CCDS1473.1	1																																																																																			FAIM3	-	-		0.552	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM3	HGNC	protein_coding	OTTHUMT00000088677.1	A	NM_005449		207078188	-1	no_errors	ENST00000528654	ensembl	human	known	70_37	rna	SNP	0.000	T
FAM47A	158724	genome.wustl.edu	37	X	34148721	34148721	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:34148721C>T	ENST00000346193.3	-	1	1726	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	559										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGGGTGGAGA	0.572																																																	0													62.0	60.0	61.0					X																	34148721		2180	4278	6458	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1675G>A	X.37:g.34148721C>T	ENSP00000345029:p.Glu559Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.E559K	ENST00000346193.3	37	c.1675	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	10.59	1.391923	0.25118	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.691	0.691	0.18045	.	.	.	.	.	T	0.12135	0.0295	L	0.27053	0.805	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.33752	-0.9856	8	0.18710	T	0.47	.	.	.	.	.	559	Q5JRC9	FA47A_HUMAN	K	559	ENSP00000345029:E559K	ENSP00000345029:E559K	E	-	1	0	FAM47A	34058642	0.009000	0.17119	0.002000	0.10522	0.022000	0.10575	1.852000	0.39348	0.596000	0.29794	0.287000	0.19450	GAG	FAM47A	-	NULL		0.572	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	C	NM_203408		34148721	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	missense	SNP	0.009	T
FBXO3	26273	genome.wustl.edu	37	11	33763601	33763601	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:33763601C>A	ENST00000265651.3	-	11	1287	c.1269G>T	c.(1267-1269)atG>atT	p.M423I	FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000531080.1_Missense_Mutation_p.M110I|FBXO3_ENST00000532057.1_Missense_Mutation_p.M110I|FBXO3_ENST00000526785.1_Missense_Mutation_p.M310I	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	423	Asp/Glu-rich (highly acidic).				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		cctcttcttccATCTCTTCAT	0.393																																																	0													96.0	75.0	82.0					11																	33763601		2202	4298	6500	SO:0001583	missense	26273			AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.1269G>T	11.37:g.33763601C>A	ENSP00000265651:p.Met423Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like	p.M423I	ENST00000265651.3	37	c.1269	CCDS7887.1	11	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010519	0.19277	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000531080;ENST00000532057	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	4.92	3.95	0.45737	.	0.496764	0.23997	N	0.042512	T	0.16214	0.0390	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05321	-1.0892	10	0.39692	T	0.17	-15.3381	11.7825	0.52023	0.0:0.822:0.1779:0.0	.	423	Q9UK99	FBX3_HUMAN	I	310;423;110;110	ENSP00000435680:M310I;ENSP00000265651:M423I;ENSP00000435165:M110I;ENSP00000434001:M110I	ENSP00000265651:M423I	M	-	3	0	FBXO3	33720177	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.452000	0.35156	2.420000	0.82092	0.561000	0.74099	ATG	FBXO3	-	NULL		0.393	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO3	HGNC	protein_coding	OTTHUMT00000388665.1	C	NM_012175		33763601	-1	no_errors	ENST00000265651	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXW11	23291	genome.wustl.edu	37	5	171299926	171299926	+	Silent	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:171299926G>A	ENST00000265094.5	-	9	1364	c.1227C>T	c.(1225-1227)ctC>ctT	p.L409L	FBXW11_ENST00000296933.6_Silent_p.L396L|FBXW11_ENST00000425623.2_Silent_p.L377L|FBXW11_ENST00000393802.2_Silent_p.L375L	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	409					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCTGTACTGGAGACAGGCAA	0.453																																																	0													105.0	92.0	96.0					5																	171299926		2203	4300	6503	SO:0001819	synonymous_variant	23291			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1227C>T	5.37:g.171299926G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L409	ENST00000265094.5	37	c.1227	CCDS34289.1	5																																																																																			FBXW11	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.453	FBXW11-002	KNOWN	basic|CCDS	protein_coding	FBXW11	HGNC	protein_coding	OTTHUMT00000372382.1	G	NM_012300		171299926	-1	no_errors	ENST00000265094	ensembl	human	known	70_37	silent	SNP	0.223	A
FBXW8	26259	genome.wustl.edu	37	12	117426609	117426609	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:117426609G>A	ENST00000309909.5	+	7	1256	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	FBXW8_ENST00000455858.2_Missense_Mutation_p.D326N|RP11-231I16.1_ENST00000548738.1_RNA			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	392					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACATGTCTAGACGTCTCGGC	0.512																																																	0													100.0	102.0	101.0					12																	117426609		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1174G>A	12.37:g.117426609G>A	ENSP00000310686:p.Asp392Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D392N	ENST00000309909.5	37	c.1174	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.353159	0.95830	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.05025	3.51;3.51	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.989	T	0.00112	-1.2043	10	0.59425	D	0.04	-22.5875	20.2822	0.98520	0.0:0.0:1.0:0.0	.	392;326	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	N	392;326;326	ENSP00000310686:D392N;ENSP00000389144:D326N	ENSP00000310686:D392N	D	+	1	0	FBXW8	115910992	1.000000	0.71417	0.945000	0.38365	0.831000	0.47069	6.665000	0.74442	2.806000	0.96561	0.655000	0.94253	GAC	FBXW8	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like		0.512	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	G	NM_012174		117426609	+1	no_errors	ENST00000309909	ensembl	human	known	70_37	missense	SNP	0.997	A
FREM1	158326	genome.wustl.edu	37	9	14801858	14801858	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr9:14801858C>G	ENST00000380880.3	-	20	4269	c.3486G>C	c.(3484-3486)caG>caC	p.Q1162H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q1162H|FREM1_ENST00000380881.4_Missense_Mutation_p.Q1163H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1162					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTCTTTCATCTGACCCTCAC	0.468																																																	0													126.0	122.0	124.0					9																	14801858		2028	4198	6226	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3486G>C	9.37:g.14801858C>G	ENSP00000370262:p.Gln1162His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.Q1163H	ENST00000380880.3	37	c.3489	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	5.523	0.281515	0.10458	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.51071	0.72;0.72;0.72	5.5	4.59	0.56863	.	0.715260	0.14638	N	0.307392	T	0.35422	0.0931	L	0.29908	0.895	0.28388	N	0.919201	B	0.09022	0.002	B	0.10450	0.005	T	0.24621	-1.0155	10	0.45353	T	0.12	0.0	8.8363	0.35115	0.0:0.7628:0.1571:0.0801	.	1162	Q5H8C1	FREM1_HUMAN	H	1163;1162;1162	ENSP00000370263:Q1163H;ENSP00000412940:Q1162H;ENSP00000370262:Q1162H	ENSP00000370257:Q1165H	Q	-	3	2	FREM1	14791858	0.299000	0.24426	0.854000	0.33618	0.161000	0.22273	0.111000	0.15458	1.274000	0.44362	0.655000	0.94253	CAG	FREM1	-	superfamily_Cadherin-like		0.468	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	C	NM_144966		14801858	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	missense	SNP	0.944	G
GABBR1	2550	genome.wustl.edu	37	6	29599339	29599339	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:29599339G>C	ENST00000377034.4	-	3	458	c.123C>G	c.(121-123)atC>atG	p.I41M	GABBR1_ENST00000377016.4_Missense_Mutation_p.I41M|GABBR1_ENST00000376977.3_Missense_Mutation_p.I41M	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	41	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	CCCGGTACCTGATGCCCCCTT	0.602																																																	0													72.0	78.0	76.0					6																	29599339		2203	4300	6503	SO:0001583	missense	2550			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.123C>G	6.37:g.29599339G>C	ENSP00000366233:p.Ile41Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C	p.I41M	ENST00000377034.4	37	c.123	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448218	0.63178	.	.	ENSG00000204681	ENST00000376977;ENST00000377016;ENST00000377034;ENST00000462632;ENST00000476670	T;D;T;T;T	0.89485	-1.25;-2.52;-0.74;1.24;0.33	4.18	3.29	0.37713	Complement control module (1);Sushi/SCR/CCP (1);	0.138613	0.43919	U	0.000511	D	0.85057	0.5610	N	0.19112	0.55	0.39339	D	0.965541	D;D;D	0.76494	0.997;0.995;0.999	D;D;D	0.83275	0.994;0.984;0.996	D	0.86989	0.2109	10	0.87932	D	0	-4.9334	9.6839	0.40087	0.0:0.0:0.626:0.374	.	41;41;41	Q9UBS5-5;Q9UBS5-3;Q9UBS5	.;.;GABR1_HUMAN	M	41;41;41;41;46	ENSP00000366176:I41M;ENSP00000366215:I41M;ENSP00000366233:I41M;ENSP00000419755:I41M;ENSP00000417332:I46M	ENSP00000366176:I41M	I	-	3	3	GABBR1	29707318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.468000	0.60162	0.859000	0.35456	0.449000	0.29647	ATC	GABBR1	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.602	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	HGNC	protein_coding	OTTHUMT00000076141.3	G			29599339	-1	no_errors	ENST00000377034	ensembl	human	known	70_37	missense	SNP	1.000	C
GFPT1	2673	genome.wustl.edu	37	2	69554097	69554097	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:69554097C>T	ENST00000357308.4	-	19	2182	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	GFPT1_ENST00000361060.5_Silent_p.V650V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	668	Isomerase.|SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTAAAGGGATCACGCTGAGAA	0.458																																																	0													155.0	131.0	139.0					2																	69554097		2203	4300	6503	SO:0001819	synonymous_variant	2673				CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.2004G>A	2.37:g.69554097C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE6|Q9BXF8	Silent	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.V668	ENST00000357308.4	37	c.2004	CCDS58713.1	2																																																																																			GFPT1	-	pfam_SIS,tigrfam_GlmS_trans		0.458	GFPT1-201	KNOWN	basic|CCDS	protein_coding	GFPT1	HGNC	protein_coding		C			69554097	-1	no_errors	ENST00000357308	ensembl	human	known	70_37	silent	SNP	1.000	T
GLA	2717	genome.wustl.edu	37	X	100658843	100658843	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:100658843C>G	ENST00000218516.3	-	2	346	c.325G>C	c.(325-327)Gac>Cac	p.D109H	GLA_ENST00000479445.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Intron	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	109					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGAGGGTCTGCCTGAAGT	0.463																																					Colon(193;776 2816 31189 44474)												0													165.0	145.0	151.0					X																	100658843		2203	4300	6503	SO:0001583	missense	2717			X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.325G>C	X.37:g.100658843C>G	ENSP00000218516:p.Asp109His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LER7	Missense_Mutation	SNP	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27	p.D109H	ENST00000218516.3	37	c.325	CCDS14484.1	X	.	.	.	.	.	.	.	.	.	.	C	28.0	4.879665	0.91740	.	.	ENSG00000102393	ENST00000218516	D	0.99948	-8.65	5.79	5.79	0.91817	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99945	0.9976	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.978;0.999	D	0.95709	0.8756	9	0.59425	D	0.04	-21.7957	19.0369	0.92982	0.0:1.0:0.0:0.0	.	109;109	B4DLT5;P06280	.;AGAL_HUMAN	H	109	ENSP00000218516:D109H	ENSP00000218516:D109H	D	-	1	0	GLA	100545499	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.793000	0.85851	2.444000	0.82710	0.594000	0.82650	GAC	GLA	-	pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF		0.463	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLA	HGNC	protein_coding	OTTHUMT00000057540.1	C			100658843	-1	no_errors	ENST00000218516	ensembl	human	known	70_37	missense	SNP	1.000	G
GTSE1	51512	genome.wustl.edu	37	22	46722476	46722476	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:46722476C>G	ENST00000454366.1	+	9	1861	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	531					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAACGATGCCCAGGGCCGTG	0.617																																					GBM(153;542 1915 12487 29016 50495)												0													54.0	51.0	52.0					22																	46722476		2203	4300	6503	SO:0001583	missense	51512			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1649C>G	22.37:g.46722476C>G	ENSP00000415430:p.Pro550Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.P550R	ENST00000454366.1	37	c.1649	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	C	3.105	-0.183815	0.06340	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.12147	2.71	4.5	2.35	0.29111	.	0.162613	0.56097	D	0.000033	T	0.13756	0.0333	L	0.50919	1.6	0.26811	N	0.969002	B;B	0.24533	0.105;0.105	B;B	0.28638	0.092;0.092	T	0.15636	-1.0430	10	0.56958	D	0.05	-15.8927	9.3252	0.37988	0.1636:0.6788:0.1576:0.0	.	531;510	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	R	550;510	ENSP00000415430:P550R	ENSP00000354634:P510R	P	+	2	0	GTSE1	45101140	0.969000	0.33509	0.043000	0.18650	0.013000	0.08279	1.466000	0.35310	0.585000	0.29608	-0.440000	0.05779	CCC	GTSE1	-	NULL		0.617	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	C	NM_016426		46722476	+1	no_errors	ENST00000454366	ensembl	human	known	70_37	missense	SNP	0.254	G
GRAMD4	23151	genome.wustl.edu	37	22	47064702	47064702	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:47064702C>G	ENST00000406902.1	+	13	1194	c.981C>G	c.(979-981)ttC>ttG	p.F327L	GRAMD4_ENST00000361034.3_Missense_Mutation_p.F327L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	327					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCAGCTTGTTCATGTGGGTCC	0.657																																																	0													95.0	103.0	100.0					22																	47064702		2203	4300	6503	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.981C>G	22.37:g.47064702C>G	ENSP00000385689:p.Phe327Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.F327L	ENST00000406902.1	37	c.981	CCDS33672.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.95|16.95	3.262172|3.262172	0.59431|0.59431	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.44881|.	0.91;0.91|.	4.47|4.47	3.45|3.45	0.39498|0.39498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.36991|0.36991	0.0987|0.0987	N|N	0.16790|0.16790	0.44|0.44	0.53005|0.53005	D|D	0.999966|0.999966	P;P|.	0.52577|.	0.954;0.512|.	D;B|.	0.66351|.	0.943;0.287|.	T|T	0.08868|0.08868	-1.0701|-1.0701	10|5	0.18710|.	T|.	0.47|.	-30.9462|-30.9462	7.3233|7.3233	0.26540|0.26540	0.0:0.7972:0.0:0.2028|0.0:0.7972:0.0:0.2028	.|.	149;327|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	L|D	327|150	ENSP00000385689:F327L;ENSP00000354313:F327L|.	ENSP00000354313:F327L|.	F|H	+|+	3|1	2|0	GRAMD4|GRAMD4	45443366|45443366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	1.307000|1.307000	0.33516|0.33516	1.028000|1.028000	0.39785|0.39785	-0.266000|-0.266000	0.10368|0.10368	TTC|CAT	GRAMD4	-	NULL		0.657	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	C	NM_015124		47064702	+1	no_errors	ENST00000361034	ensembl	human	known	70_37	missense	SNP	1.000	G
HADH	3033	genome.wustl.edu	37	4	108911144	108911144	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:108911144C>T	ENST00000309522.3	+	1	205	c.56C>T	c.(55-57)tCg>tTg	p.S19L	HADH_ENST00000505878.1_5'UTR|HADH_ENST00000603302.1_Missense_Mutation_p.S19L|HADH_ENST00000403312.1_Missense_Mutation_p.S78L	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	0					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		TCCACCGCCTCGGCCTCGGCC	0.677																																																	0													47.0	36.0	40.0					4																	108911144		2203	4300	6503	SO:0001583	missense	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.56C>T	4.37:g.108911144C>T	ENSP00000312288:p.Ser19Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like	p.S19L	ENST00000309522.3	37	c.56	CCDS3678.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003498	0.74932	.	.	ENSG00000138796	ENST00000403312;ENST00000309522	T	0.71461	-0.57	4.73	4.73	0.59995	.	0.590445	0.18104	N	0.151567	T	0.48926	0.1527	N	0.08118	0	0.80722	D	1	P;B	0.37398	0.593;0.147	B;B	0.28465	0.09;0.015	T	0.60031	-0.7342	10	0.72032	D	0.01	-2.1483	14.5568	0.68106	0.0:1.0:0.0:0.0	.	78;19	Q16836-2;Q16836	.;HCDH_HUMAN	L	19	ENSP00000312288:S19L	ENSP00000312288:S19L	S	+	2	0	HADH	109130593	0.992000	0.36948	0.901000	0.35422	0.978000	0.69477	3.574000	0.53863	2.450000	0.82876	0.591000	0.81541	TCG	HADH	-	NULL		0.677	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADH	HGNC	protein_coding	OTTHUMT00000254750.2	C	NM_005327		108911144	+1	no_errors	ENST00000403312	ensembl	human	known	70_37	missense	SNP	0.997	T
HGSNAT	138050	genome.wustl.edu	37	8	43025773	43025773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:43025773C>T	ENST00000458501.2	+	7	763	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	HGSNAT_ENST00000379644.4_Nonsense_Mutation_p.Q227*			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	255					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGTGATGTTCAGCCAGCAAC	0.562																																																	0													48.0	49.0	49.0					8																	43025773		2035	4177	6212	SO:0001587	stop_gained	138050				CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.763C>T	8.37:g.43025773C>T	ENSP00000389524:p.Gln255*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2V0	Nonsense_Mutation	SNP	pfam_DUF1624	p.Q255*	ENST00000458501.2	37	c.763		8	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132746	0.56828	.	.	ENSG00000165102	ENST00000458501;ENST00000379644	.	.	.	5.44	5.44	0.79542	.	1.080460	0.07029	N	0.828021	.	.	.	.	.	.	0.36091	D	0.843453	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-3.0802	10.2759	0.43510	0.0:0.9105:0.0:0.0895	.	.	.	.	X	255;227	.	ENSP00000368965:Q227X	Q	+	1	0	HGSNAT	43144930	0.006000	0.16342	0.011000	0.14972	0.019000	0.09904	1.711000	0.37930	2.561000	0.86390	0.650000	0.86243	CAG	HGSNAT	-	NULL		0.562	HGSNAT-202	KNOWN	basic	protein_coding	HGSNAT	HGNC	protein_coding		C	XM_372038		43025773	+1	no_errors	ENST00000458501	ensembl	human	known	70_37	nonsense	SNP	0.031	T
HIVEP1	3096	genome.wustl.edu	37	6	12125377	12125377	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:12125377G>C	ENST00000379388.2	+	4	5681	c.5349G>C	c.(5347-5349)ttG>ttC	p.L1783F	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1783					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)				TAGAGGCTTTGAGTTCGAGAG	0.443																																																	0													128.0	123.0	124.0					6																	12125377		1864	4103	5967	SO:0001583	missense	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.5349G>C	6.37:g.12125377G>C	ENSP00000368698:p.Leu1783Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1783F	ENST00000379388.2	37	c.5349	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	9.231	1.035751	0.19590	.	.	ENSG00000095951	ENST00000379388	T	0.10860	2.83	5.47	2.15	0.27550	.	1.706460	0.04957	N	0.461407	T	0.09642	0.0237	M	0.68952	2.095	0.09310	N	0.999998	D	0.59357	0.985	P	0.55923	0.787	T	0.14309	-1.0477	9	.	.	.	-1.5225	1.4803	0.02435	0.2663:0.14:0.4494:0.1443	.	1783	P15822	ZEP1_HUMAN	F	1783	ENSP00000368698:L1783F	.	L	+	3	2	HIVEP1	12233363	0.099000	0.21834	0.000000	0.03702	0.002000	0.02628	0.381000	0.20619	0.087000	0.17167	-0.182000	0.12963	TTG	HIVEP1	-	NULL		0.443	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12125377	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	0.002	C
IFT172	26160	genome.wustl.edu	37	2	27669207	27669207	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:27669207T>C	ENST00000260570.3	-	43	4778	c.4675A>G	c.(4675-4677)Agg>Ggg	p.R1559G	KRTCAP3_ENST00000543753.1_3'UTR	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1559					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACAGAAAGCCTGGCAGCCACG	0.493																																																	0													86.0	83.0	84.0					2																	27669207		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.4675A>G	2.37:g.27669207T>C	ENSP00000260570:p.Arg1559Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.R1559G	ENST00000260570.3	37	c.4675	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	T	13.20	2.165170	0.38217	.	.	ENSG00000138002	ENST00000260570	T	0.48836	0.8	5.2	2.86	0.33363	.	0.155842	0.56097	D	0.000034	T	0.45836	0.1362	L	0.53249	1.67	0.80722	D	1	P	0.39862	0.692	B	0.42522	0.39	T	0.48758	-0.9007	10	0.87932	D	0	-8.7011	10.652	0.45653	0.0:0.0:0.3683:0.6317	.	1559	Q9UG01	IF172_HUMAN	G	1559	ENSP00000260570:R1559G	ENSP00000260570:R1559G	R	-	1	2	IFT172	27522711	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	2.820000	0.48057	0.806000	0.34183	0.459000	0.35465	AGG	IFT172	-	NULL		0.493	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	T	NM_015662		27669207	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	C
HOXD9	3235	genome.wustl.edu	37	2	176988751	176988751	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:176988751G>C	ENST00000249499.6	+	2	1316	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	303					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCTGGAGAAAGAATTCCTCTT	0.547																																					GBM(47;924 952 7959 9248 12176)												0													97.0	108.0	104.0					2																	176988751		2203	4300	6503	SO:0001583	missense	3235				CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.907G>C	2.37:g.176988751G>C	ENSP00000249499:p.Glu303Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86ST1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.E303Q	ENST00000249499.6	37	c.907	CCDS2267.2	2	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878850	0.72294	.	.	ENSG00000128709	ENST00000249499	D	0.96491	-4.03	5.6	5.6	0.85130	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.98454	0.9485	M	0.93375	3.41	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.99066	1.0832	10	0.87932	D	0	.	12.6107	0.56549	0.0803:0.0:0.9197:0.0	.	303	P28356	HXD9_HUMAN	Q	303	ENSP00000249499:E303Q	ENSP00000249499:E303Q	E	+	1	0	HOXD9	176696997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	2.637000	0.89404	0.650000	0.86243	GAA	HOXD9	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain		0.547	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD9	HGNC	protein_coding	OTTHUMT00000255698.4	G			176988751	+1	no_errors	ENST00000249499	ensembl	human	known	70_37	missense	SNP	1.000	C
IGHMBP2	3508	genome.wustl.edu	37	11	68704244	68704244	+	Missense_Mutation	SNP	G	G	A	rs201989968		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:68704244G>A	ENST00000255078.3	+	13	2407	c.2296G>A	c.(2296-2298)Ggg>Agg	p.G766R		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	766	R3H. {ECO:0000255|PROSITE- ProRule:PRU00382}.|SS DNA-binding. {ECO:0000250}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGAGGAGCACGGGCTGAGGCA	0.617																																																	0													57.0	52.0	54.0					11																	68704244		2200	4294	6494	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2296G>A	11.37:g.68704244G>A	ENSP00000255078:p.Gly766Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.G766R	ENST00000255078.3	37	c.2296	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	28.7	4.946326	0.92593	.	.	ENSG00000132740	ENST00000255078	T	0.55760	0.5	4.35	4.35	0.52113	Single-stranded nucleic acid binding R3H (3);	0.904041	0.09294	N	0.821893	T	0.80003	0.4544	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79671	-0.1706	10	0.72032	D	0.01	-11.3502	16.0177	0.80455	0.0:0.0:1.0:0.0	.	766	P38935	SMBP2_HUMAN	R	766	ENSP00000255078:G766R	ENSP00000255078:G766R	G	+	1	0	IGHMBP2	68460820	1.000000	0.71417	0.947000	0.38551	0.967000	0.64934	9.245000	0.95431	2.136000	0.66102	0.561000	0.74099	GGG	IGHMBP2	-	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd		0.617	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	G	NM_002180		68704244	+1	no_errors	ENST00000255078	ensembl	human	known	70_37	missense	SNP	1.000	A
ITGA1	3672	genome.wustl.edu	37	5	52206174	52206174	+	Silent	SNP	G	G	C	rs377090654		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:52206174G>C	ENST00000282588.6	+	14	2240	c.1782G>C	c.(1780-1782)ccG>ccC	p.P594P		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	594					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TAGGAGCTCCGCTGGAAGATG	0.428																																																	0													89.0	89.0	89.0					5																	52206174		2203	4300	6503	SO:0001819	synonymous_variant	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.1782G>C	5.37:g.52206174G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNU0	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.P594	ENST00000282588.6	37	c.1782	CCDS3955.1	5																																																																																			ITGA1	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha		0.428	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA1	HGNC	protein_coding	OTTHUMT00000253855.3	G	NM_181501		52206174	+1	no_errors	ENST00000282588	ensembl	human	known	70_37	silent	SNP	0.000	C
KCNB2	9312	genome.wustl.edu	37	8	73480393	73480393	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:73480393C>T	ENST00000523207.1	+	2	1012	c.424C>T	c.(424-426)Cat>Tat	p.H142Y		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	142					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GGCCAGATATCATCAAAAAAA	0.448																																																	0													106.0	111.0	109.0					8																	73480393		2203	4300	6503	SO:0001583	missense	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.424C>T	8.37:g.73480393C>T	ENSP00000430846:p.His142Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.H142Y	ENST00000523207.1	37	c.424	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425167	0.83667	.	.	ENSG00000182674	ENST00000523207	D	0.96992	-4.2	6.07	6.07	0.98685	BTB/POZ-like (1);BTB/POZ fold (2);	0.329532	0.17958	U	0.156263	D	0.96300	0.8793	L	0.48260	1.515	0.80722	D	1	P	0.34462	0.454	B	0.43916	0.436	D	0.95305	0.8407	10	0.87932	D	0	.	20.2697	0.98465	0.0:1.0:0.0:0.0	.	142	Q92953	KCNB2_HUMAN	Y	142	ENSP00000430846:H142Y	ENSP00000430846:H142Y	H	+	1	0	KCNB2	73642947	1.000000	0.71417	0.993000	0.49108	0.953000	0.61014	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	CAT	KCNB2	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv2		0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	C	NM_004770		73480393	+1	no_errors	ENST00000523207	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNJ8	3764	genome.wustl.edu	37	12	21919523	21919523	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:21919523C>A	ENST00000240662.2	-	3	754	c.409G>T	c.(409-411)Gtt>Ttt	p.V137F	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	137					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GTAACTTGAACTTCAATGGAG	0.408																																																	0													69.0	63.0	65.0					12																	21919523		2203	4300	6503	SO:0001583	missense	3764			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.409G>T	12.37:g.21919523C>A	ENSP00000240662:p.Val137Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00657	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_Kir6.1	p.V137F	ENST00000240662.2	37	c.409	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656312	0.88056	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.96136	-3.92	5.11	5.11	0.69529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98362	1.0549	10	0.87932	D	0	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	137	Q15842	IRK8_HUMAN	F	137	ENSP00000240662:V137F	ENSP00000240662:V137F	V	-	1	0	KCNJ8	21810790	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.900000	0.69853	2.667000	0.90743	0.563000	0.77884	GTT	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.408	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	C	NM_004982		21919523	-1	no_errors	ENST00000240662	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1024	23251	genome.wustl.edu	37	15	79750330	79750330	+	Missense_Mutation	SNP	C	C	T	rs556179640	byFrequency	TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:79750330C>T	ENST00000305428.3	+	2	1916	c.1841C>T	c.(1840-1842)tCg>tTg	p.S614L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	614						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAATCCCTGTCGGGTGTCCGT	0.498													C|||	3	0.000599042	0.0	0.0	5008	,	,		21833	0.0		0.0	False		,,,				2504	0.0031																0													76.0	71.0	72.0					15																	79750330		2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1841C>T	15.37:g.79750330C>T	ENSP00000307461:p.Ser614Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.S614L	ENST00000305428.3	37	c.1841	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971690	0.53614	.	.	ENSG00000169330	ENST00000305428	T	0.37411	1.2	5.6	4.68	0.58851	.	0.347006	0.30840	N	0.008766	T	0.36248	0.0960	M	0.62723	1.935	0.24581	N	0.993875	B	0.19583	0.037	B	0.14023	0.01	T	0.19484	-1.0304	9	.	.	.	.	14.2179	0.65805	0.0:0.9278:0.0:0.0722	.	614	Q9UPX6	K1024_HUMAN	L	614	ENSP00000307461:S614L	.	S	+	2	0	KIAA1024	77537385	0.997000	0.39634	0.077000	0.20336	0.934000	0.57294	3.610000	0.54125	1.350000	0.45770	0.591000	0.81541	TCG	KIAA1024	-	NULL		0.498	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	C	NM_015206		79750330	+1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.224	T
KIF26A	26153	genome.wustl.edu	37	14	104639437	104639437	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:104639437C>T	ENST00000423312.2	+	8	1544	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	KIF26A_ENST00000315264.7_Missense_Mutation_p.S376F	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	515	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACCCGCTTCTCCGTCCGGGTC	0.701																																																	0													13.0	19.0	17.0					14																	104639437		2067	4168	6235	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.1544C>T	14.37:g.104639437C>T	ENSP00000388241:p.Ser515Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S515F	ENST00000423312.2	37	c.1544	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055372	0.75960	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.76316	-1.01;-1.01	4.84	4.84	0.62591	Kinesin, motor domain (4);	.	.	.	.	D	0.89636	0.6772	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.91777	0.5432	9	0.87932	D	0	.	17.9375	0.89017	0.0:1.0:0.0:0.0	.	515	Q9ULI4	KI26A_HUMAN	F	515;376	ENSP00000388241:S515F;ENSP00000325452:S376F	ENSP00000325452:S376F	S	+	2	0	KIF26A	103709190	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	5.851000	0.69481	2.223000	0.72356	0.462000	0.41574	TCC	KIF26A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	C			104639437	+1	no_errors	ENST00000423312	ensembl	human	known	70_37	missense	SNP	1.000	T
LCOR	84458	genome.wustl.edu	37	10	98714983	98714983	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:98714983C>T	ENST00000371097.4	+	8	1152	c.606C>T	c.(604-606)ttC>ttT	p.F202F	LCOR_ENST00000540664.1_Silent_p.F202F|LCOR_ENST00000371103.3_Silent_p.F202F|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Silent_p.F202F			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	202					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ATTACGAGTTCAACCTCAGCC	0.468																																																	0													68.0	65.0	66.0					10																	98714983		2203	4300	6503	SO:0001819	synonymous_variant	84458				CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.606C>T	10.37:g.98714983C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.F202	ENST00000371097.4	37	c.606	CCDS7451.1	10																																																																																			LCOR	-	NULL		0.468	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	LCOR	HGNC	protein_coding	OTTHUMT00000049628.2	C			98714983	+1	no_errors	ENST00000356016	ensembl	human	known	70_37	silent	SNP	1.000	T
MAGEA12	4111	genome.wustl.edu	37	X	151900161	151900161	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:151900161C>T	ENST00000357916.4	-	2	795	c.640G>A	c.(640-642)Gac>Aac	p.D214N	MAGEA12_ENST00000393869.3_Missense_Mutation_p.D214N|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.D214N	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	214	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGCACAGTCGCCCTCTTTT	0.582																																																	0													159.0	153.0	155.0					X																	151900161		2203	4298	6501	SO:0001583	missense	4111				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.640G>A	X.37:g.151900161C>T	ENSP00000350592:p.Asp214Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D214N	ENST00000357916.4	37	c.640	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.168639	0.00315	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.03663	3.85;3.85;3.85	0.809	-1.62	0.08372	.	0.499344	0.24474	N	0.038204	T	0.00936	0.0031	N	0.01493	-0.835	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.38929	-0.9638	9	0.02654	T	1	.	.	.	.	.	214	P43365	MAGAC_HUMAN	N	214	ENSP00000350592:D214N;ENSP00000377447:D214N;ENSP00000377478:D214N	ENSP00000350592:D214N	D	-	1	0	MAGEA12	151650817	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	-0.107000	0.10873	-1.033000	0.03299	0.181000	0.17075	GAC	MAGEA12	-	pfam_MAGE,pfscan_MAGE		0.582	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	C	NM_005367		151900161	-1	no_errors	ENST00000357916	ensembl	human	known	70_37	missense	SNP	0.001	T
MAPK11	5600	genome.wustl.edu	37	22	50704989	50704989	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:50704989G>A	ENST00000330651.6	-	8	762	c.662C>T	c.(661-663)gCc>gTc	p.A221V	MAPK11_ENST00000495277.1_5'Flank|MAPK11_ENST00000449719.2_3'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		A -> V (in a lung neuroendocrine carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.A221V(1)		breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CGGGAAGAGGGCCTTGCCCTG	0.657																																					GBM(9;634 739 50668)												1	Substitution - Missense(1)	lung(1)											68.0	64.0	65.0					22																	50704989		2203	4300	6503	SO:0001583	missense	5600			Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.662C>T	22.37:g.50704989G>A	ENSP00000333685:p.Ala221Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38,prints_MAPK_JNK	p.A221V	ENST00000330651.6	37	c.662	CCDS14090.1	22	.	.	.	.	.	.	.	.	.	.	g	9.944	1.218418	0.22373	.	.	ENSG00000185386	ENST00000330651	T	0.13196	2.61	4.27	4.27	0.50696	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.220191	0.37530	U	0.002050	T	0.06416	0.0165	N	0.05534	-0.03	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20207	-1.0282	10	0.07644	T	0.81	-16.4424	12.5989	0.56487	0.0:0.0:1.0:0.0	.	221	Q15759	MK11_HUMAN	V	221	ENSP00000333685:A221V	ENSP00000333685:A221V	A	-	2	0	MAPK11	49047116	0.126000	0.22350	1.000000	0.80357	0.803000	0.45373	2.638000	0.46562	2.141000	0.66446	0.479000	0.44913	GCC	MAPK11	-	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		0.657	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK11	HGNC	protein_coding	OTTHUMT00000316900.1	G			50704989	-1	no_errors	ENST00000330651	ensembl	human	known	70_37	missense	SNP	0.999	A
MARK4	57787	genome.wustl.edu	37	19	45801453	45801453	+	Intron	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:45801453G>A	ENST00000262891.4	+	15	2208				MARK4_ENST00000300843.4_Missense_Mutation_p.A644T	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4						microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTTTCGGGCGCCTCTCTGCC	0.607																																																	0													148.0	120.0	130.0					19																	45801453		2203	4300	6503	SO:0001627	intron_variant	57787			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1877+241G>A	19.37:g.45801453G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A644T	ENST00000262891.4	37	c.1930	CCDS56097.1	19	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703871	0.48412	.	.	ENSG00000007047	ENST00000300843	T	0.70986	-0.53	4.98	4.98	0.66077	.	.	.	.	.	T	0.49423	0.1556	N	0.08118	0	0.23023	N	0.99841	P	0.46327	0.876	B	0.34242	0.178	T	0.49072	-0.8977	9	0.48119	T	0.1	.	15.7546	0.78013	0.0:0.0:1.0:0.0	.	644	Q96L34-2	.	T	644	ENSP00000300843:A644T	ENSP00000300843:A644T	A	+	1	0	MARK4	50493293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.805000	0.55575	2.299000	0.77371	0.460000	0.39030	GCC	MARK4	-	NULL		0.607	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK4	HGNC	protein_coding	OTTHUMT00000457537.1	G	NM_031417		45801453	+1	no_errors	ENST00000300843	ensembl	human	known	70_37	missense	SNP	1.000	A
MAST4	375449	genome.wustl.edu	37	5	66456416	66456416	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:66456416G>A	ENST00000403625.2	+	27	4076	c.3781G>A	c.(3781-3783)Gaa>Aaa	p.E1261K	MAST4_ENST00000405643.1_Missense_Mutation_p.E1082K|MAST4_ENST00000404260.3_Missense_Mutation_p.E1264K|MAST4_ENST00000261569.7_Missense_Mutation_p.E1067K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1072K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1264						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAAGTCTCGAAAGGTTAGT	0.363																																																	0													84.0	86.0	86.0					5																	66456416		1847	4087	5934	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3781G>A	5.37:g.66456416G>A	ENSP00000385727:p.Glu1261Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E1264K	ENST00000403625.2	37	c.3790	CCDS54861.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.690597|5.690597	0.96793|0.96793	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.65178|.	-0.12;-0.12;-0.14;-0.14;-0.11|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52451|0.52451	0.1735|0.1735	N|N	0.14661|0.14661	0.345|0.345	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.69078|.	0.981;0.997|.	P;P|.	0.59643|.	0.457;0.861|.	T|T	0.45425|0.45425	-0.9262|-0.9262	10|5	0.39692|.	T|.	0.17|.	-24.6645|-24.6645	20.0784|20.0784	0.97758|0.97758	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1264;1072|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	K|Q	1264;1261;1072;1082;1082;1067|317	ENSP00000385048:E1264K;ENSP00000385727:E1261K;ENSP00000384313:E1072K;ENSP00000384099:E1082K;ENSP00000261569:E1067K|.	ENSP00000261569:E1067K|.	E|R	+|+	1|2	0|0	MAST4|MAST4	66492172|66492172	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.869000|9.869000	0.99810|0.99810	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAA|CGA	MAST4	-	NULL		0.363	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	G			66456416	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	1.000	A
MBD6	114785	genome.wustl.edu	37	12	57921757	57921757	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:57921757C>G	ENST00000355673.3	+	9	2719	c.2363C>G	c.(2362-2364)tCa>tGa	p.S788*	MBD6_ENST00000431731.2_Nonsense_Mutation_p.S788*	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	788	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						CCACCCCTCTCAGAGGCTTCT	0.582																																																	0													25.0	29.0	28.0					12																	57921757		2202	4294	6496	SO:0001587	stop_gained	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.2363C>G	12.37:g.57921757C>G	ENSP00000347896:p.Ser788*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3M0|Q8NA81|Q96Q00	Nonsense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.S788*	ENST00000355673.3	37	c.2363	CCDS8944.1	12	.	.	.	.	.	.	.	.	.	.	C	41	8.756111	0.98941	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	5.04	5.04	0.67666	.	0.543770	0.14870	N	0.293577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-1.0936	15.7907	0.78357	0.0:1.0:0.0:0.0	.	.	.	.	X	788;788;252	.	ENSP00000300263:S252X	S	+	2	0	MBD6	56208024	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	2.527000	0.45615	2.786000	0.95864	0.561000	0.74099	TCA	MBD6	-	NULL		0.582	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD6	HGNC	protein_coding	OTTHUMT00000407250.1	C			57921757	+1	no_errors	ENST00000355673	ensembl	human	known	70_37	nonsense	SNP	1.000	G
MGAT5B	146664	genome.wustl.edu	37	17	74865078	74865078	+	5'UTR	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:74865078C>T	ENST00000569840.2	+	0	541				MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_5'UTR|MGAT5B_ENST00000565675.1_5'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B						protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTCCGGCCTCGCCCGCGGCT	0.667																																																	0													97.0	76.0	83.0					17																	74865078		2203	4300	6503	SO:0001623	5_prime_UTR_variant	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.-34C>T	17.37:g.74865078C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	RNA	SNP	-	NULL	ENST00000569840.2	37	NULL	CCDS59299.1	17																																																																																			MGAT5B	-	-		0.667	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	C	NM_144677		74865078	+1	no_errors	ENST00000374998	ensembl	human	known	70_37	rna	SNP	0.001	T
KMT2D	8085	genome.wustl.edu	37	12	49427595	49427595	+	Silent	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:49427595G>C	ENST00000301067.7	-	39	10892	c.10893C>G	c.(10891-10893)ctC>ctG	p.L3631L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3631	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTGACCAGGGAGCTTGGTGA	0.652																																																	0													10.0	13.0	12.0					12																	49427595		2171	4270	6441	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10893C>G	12.37:g.49427595G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3631	ENST00000301067.7	37	c.10893	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.652	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49427595	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	1.000	C
KMT2D	8085	genome.wustl.edu	37	12	49427852	49427852	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:49427852G>A	ENST00000301067.7	-	38	10737	c.10738C>T	c.(10738-10740)Cag>Tag	p.Q3580*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3580	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCCCCACCTGATCCAGTTGT	0.577																																																	0													53.0	49.0	50.0					12																	49427852		2029	4195	6224	SO:0001587	stop_gained	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10738C>T	12.37:g.49427852G>A	ENSP00000301067:p.Gln3580*	Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3580*	ENST00000301067.7	37	c.10738	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	51	18.530748	0.99906	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.38	5.38	0.77491	.	0.000000	0.34906	N	0.003598	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2915	0.90131	0.0:0.0:1.0:0.0	.	.	.	.	X	3580	.	ENSP00000301067:Q3580X	Q	-	1	0	MLL2	47714119	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.711000	0.92665	0.563000	0.77884	CAG	MLL2	-	NULL		0.577	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49427852	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MTOR	2475	genome.wustl.edu	37	1	11184646	11184646	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:11184646C>G	ENST00000361445.4	-	47	6647	c.6571G>C	c.(6571-6573)Gat>Cat	p.D2191H	MTOR_ENST00000376838.1_Missense_Mutation_p.D396H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2191	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|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(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGCGCAGATCTTCATGGCCT	0.507																																																	0													133.0	111.0	118.0					1																	11184646		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6571G>C	1.37:g.11184646C>G	ENSP00000354558:p.Asp2191His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.D2191H	ENST00000361445.4	37	c.6571	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911769	0.92178	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	D;D	0.91180	-2.8;-2.8	5.84	5.84	0.93424	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	H	0.99971	5.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99421	1.0933	10	0.87932	D	0	-14.0055	18.3151	0.90218	0.0:1.0:0.0:0.0	.	2191	P42345	MTOR_HUMAN	H	2191;396	ENSP00000354558:D2191H;ENSP00000366034:D396H	ENSP00000354558:D2191H	D	-	1	0	MTOR	11107233	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	7.386000	0.79775	2.765000	0.95021	0.655000	0.94253	GAT	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.507	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11184646	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	G
MUC16	94025	genome.wustl.edu	37	19	9068371	9068371	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:9068371C>G	ENST00000397910.4	-	3	19278	c.19075G>C	c.(19075-19077)Gag>Cag	p.E6359Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6361	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGTTGTCTCAGACTCAATC	0.453																																																	0													82.0	75.0	77.0					19																	9068371		1902	4116	6018	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.19075G>C	19.37:g.9068371C>G	ENSP00000381008:p.Glu6359Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.E6359Q	ENST00000397910.4	37	c.19075	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	4.973	0.180650	0.09443	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.4	-2.21	0.06973	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	.	.	.	B	0.12630	0.006	B	0.15870	0.014	T	0.42189	-0.9466	8	0.87932	D	0	.	6.016	0.19603	0.0:0.2553:0.5874:0.1573	.	6359	B5ME49	.	Q	6359	ENSP00000381008:E6359Q	ENSP00000381008:E6359Q	E	-	1	0	MUC16	8929371	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.204000	0.03017	-0.266000	0.09339	0.187000	0.17357	GAG	MUC16	-	NULL		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9068371	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	G
MYH11	4629	genome.wustl.edu	37	16	15814153	15814153	+	Missense_Mutation	SNP	G	G	A	rs376105806		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:15814153G>A	ENST00000300036.5	-	34	4917	c.4808C>T	c.(4807-4809)aCg>aTg	p.T1603M	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.T1603M|MYH11_ENST00000396324.3_Missense_Mutation_p.T1610M|MYH11_ENST00000452625.2_Missense_Mutation_p.T1610M|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1603					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTCCAGTTCCGTCTCATACTC	0.592			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0													80.0	65.0	70.0					16																	15814153		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4808C>T	16.37:g.15814153G>A	ENSP00000300036:p.Thr1603Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,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.T1610M	ENST00000300036.5	37	c.4829	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195436	0.58126	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69	5.04	5.04	0.67666	Myosin tail (1);	0.116899	0.56097	D	0.000022	T	0.78502	0.4293	L	0.39245	1.2	0.80722	D	1	B;B;B;B;B	0.26483	0.15;0.15;0.15;0.15;0.15	B;B;B;B;B	0.22753	0.041;0.041;0.041;0.041;0.041	T	0.77651	-0.2508	10	0.87932	D	0	.	17.3843	0.87412	0.0:0.0:1.0:0.0	.	1610;1603;1610;1603;1610	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	M	1603;1603;1610;1610;1610	ENSP00000300036:T1603M;ENSP00000345136:T1603M;ENSP00000379616:T1610M;ENSP00000407821:T1610M	ENSP00000300036:T1603M	T	-	2	0	MYH11	15721654	1.000000	0.71417	0.997000	0.53966	0.747000	0.42532	5.708000	0.68377	2.346000	0.79739	0.650000	0.86243	ACG	MYH11	-	pfam_Myosin_tail		0.592	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	G	NM_001040113		15814153	-1	no_errors	ENST00000396324	ensembl	human	known	70_37	missense	SNP	1.000	A
NAA15	80155	genome.wustl.edu	37	4	140264026	140264026	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:140264026C>A	ENST00000296543.5	+	5	772	c.449C>A	c.(448-450)tCa>tAa	p.S150*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.S150*|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	150					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CAGAGAGCATCATGGATTGGT	0.343																																																	0													135.0	125.0	128.0					4																	140264026		1858	4119	5977	SO:0001587	stop_gained	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.449C>A	4.37:g.140264026C>A	ENSP00000296543:p.Ser150*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S150*	ENST00000296543.5	37	c.449	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	C	39	7.861977	0.98531	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.25	5.25	0.73442	.	0.072136	0.56097	D	0.000032	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-10.1605	19.4069	0.94651	0.0:1.0:0.0:0.0	.	.	.	.	X	150;24;150	.	ENSP00000296543:S150X	S	+	2	0	NAA15	140483476	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.177000	0.77650	2.894000	0.99253	0.591000	0.81541	TCA	NAA15	-	pirsf_NatA_aux_su,pfscan_TPR-contain_dom		0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	C	NM_057175		140264026	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78444560	78444560	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:78444560T>C	ENST00000397909.2	+	11	2322	c.2149T>C	c.(2149-2151)Ttt>Ctt	p.F717L	RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Missense_Mutation_p.F717L|NAV3_ENST00000228327.6_Missense_Mutation_p.F717L|NAV3_ENST00000536525.2_Missense_Mutation_p.F717L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	717						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGAGACAACATTTGACAGCAC	0.478										HNSCC(70;0.22)																																							0													130.0	122.0	124.0					12																	78444560		1960	4156	6116	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2149T>C	12.37:g.78444560T>C	ENSP00000381007:p.Phe717Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.F717L	ENST00000397909.2	37	c.2149		12	.	.	.	.	.	.	.	.	.	.	T	29.4	5.003512	0.93287	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.9	5.9	0.94986	.	0.000000	0.41500	U	0.000867	T	0.35595	0.0937	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.982;0.998	D;D;D	0.87578	0.998;0.952;0.987	T	0.03993	-1.0986	10	0.87932	D	0	-21.7939	16.3317	0.83023	0.0:0.0:0.0:1.0	.	717;717;717	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	L	717	ENSP00000446132:F717L;ENSP00000381007:F717L;ENSP00000228327:F717L;ENSP00000266692:F717L	ENSP00000228327:F717L	F	+	1	0	NAV3	76968691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.264000	0.75181	0.533000	0.62120	TTT	NAV3	-	NULL		0.478	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	T	NM_001024383		78444560	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	C
NEDD4	4734	genome.wustl.edu	37	15	56155208	56155208	+	Missense_Mutation	SNP	G	G	C	rs571063108	byFrequency	TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:56155208G>C	ENST00000508342.1	-	5	2133	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	NEDD4_ENST00000338963.2_Missense_Mutation_p.L540V|NEDD4_ENST00000506154.1_Missense_Mutation_p.L596V|NEDD4_ENST00000435532.3_Missense_Mutation_p.L193V	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	612	Mediates interaction with TNIK. {ECO:0000250}.|WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTGGAGGTAGAGGAGAAGGT	0.463																																																	0													155.0	141.0	146.0					15																	56155208		2193	4292	6485	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1834C>G	15.37:g.56155208G>C	ENSP00000424827:p.Leu612Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.L612V	ENST00000508342.1	37	c.1834		15	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205182	0.79127	.	.	ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.56	5.56	0.83823	WW/Rsp5/WWP (5);	0.225703	0.38381	N	0.001712	D	0.96583	0.8885	H	0.99211	4.47	0.48341	D	0.99963	D;P;P;D	0.69078	0.994;0.918;0.927;0.997	D;P;P;D	0.68765	0.913;0.668;0.842;0.96	D	0.98192	1.0463	10	0.72032	D	0.01	.	18.5251	0.90969	0.0:0.0:1.0:0.0	.	596;193;612;540	P46934-2;P46934-4;P46934;P46934-3	.;.;NEDD4_HUMAN;.	V	612;193;540;596	ENSP00000424827:L612V;ENSP00000410613:L193V;ENSP00000345530:L540V;ENSP00000422705:L596V	ENSP00000345530:L540V	L	-	1	2	NEDD4	53942500	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.852000	0.62904	2.610000	0.88304	0.557000	0.71058	CTA	NEDD4	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.463	NEDD4-002	KNOWN	basic	protein_coding	NEDD4	HGNC	protein_coding	OTTHUMT00000359817.1	G	NM_198400		56155208	-1	no_errors	ENST00000508342	ensembl	human	known	70_37	missense	SNP	1.000	C
NTNG1	22854	genome.wustl.edu	37	1	107937833	107937833	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:107937833C>T	ENST00000370068.1	+	4	1791	c.945C>T	c.(943-945)tgC>tgT	p.C315C	NTNG1_ENST00000370071.2_Silent_p.C315C|NTNG1_ENST00000370072.3_Silent_p.C315C|NTNG1_ENST00000370067.1_Silent_p.C315C|NTNG1_ENST00000370061.3_Silent_p.C315C|NTNG1_ENST00000370074.4_Silent_p.C315C|NTNG1_ENST00000370065.1_Silent_p.C315C|NTNG1_ENST00000370073.2_Silent_p.C315C|NTNG1_ENST00000370070.2_Silent_p.C315C|NTNG1_ENST00000542803.1_Silent_p.C315C|NTNG1_ENST00000370066.1_Silent_p.C315C			Q9Y2I2	NTNG1_HUMAN	netrin G1	315	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AATTGACATGCGAATGTGAGC	0.483																																																	0													203.0	191.0	195.0					1																	107937833		2203	4300	6503	SO:0001819	synonymous_variant	22854			AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.945C>T	1.37:g.107937833C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Silent	SNP	pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N	p.C315	ENST00000370068.1	37	c.945	CCDS44180.1	1																																																																																			NTNG1	-	pfam_EGF_laminin,smart_EGF_laminin		0.483	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NTNG1	HGNC	protein_coding	OTTHUMT00000030340.1	C	NM_014917		107937833	+1	no_errors	ENST00000370068	ensembl	human	known	70_37	silent	SNP	1.000	T
OAS1	4938	genome.wustl.edu	37	12	113354322	113354322	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:113354322G>C	ENST00000202917.5	+	4	926	c.663G>C	c.(661-663)aaG>aaC	p.K221N	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Missense_Mutation_p.K221N|OAS1_ENST00000551241.1_Missense_Mutation_p.K221N|OAS1_ENST00000452357.2_Missense_Mutation_p.K221N	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	221					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						AGTGTAAGAAGAAGCTTGGGA	0.478																																																	0													55.0	54.0	54.0					12																	113354322		2203	4300	6503	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.663G>C	12.37:g.113354322G>C	ENSP00000202917:p.Lys221Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.K221N	ENST00000202917.5	37	c.663	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	G	7.559	0.664356	0.14710	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000550883;ENST00000551241;ENST00000377508;ENST00000550689	T;T;T;T;T;T	0.48836	0.87;0.87;0.87;0.8;0.87;0.87	4.8	0.565	0.17309	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.817420	0.10786	N	0.634335	T	0.48095	0.1481	M	0.73598	2.24	0.09310	N	0.999997	B;B;B;B;B	0.31611	0.331;0.24;0.01;0.191;0.066	B;B;B;B;B	0.37550	0.253;0.147;0.033;0.075;0.052	T	0.50415	-0.8831	10	0.66056	D	0.02	-10.5323	5.3752	0.16162	0.1828:0.3119:0.5053:0.0	.	221;221;221;221;221	E7EMI9;F8VXY3;P00973;P00973-3;P00973-2	.;.;OAS1_HUMAN;.;.	N	221;221;221;63;221;221;217	ENSP00000202917:K221N;ENSP00000388001:K221N;ENSP00000415721:K221N;ENSP00000450286:K63N;ENSP00000448790:K221N;ENSP00000448348:K217N	ENSP00000202917:K221N	K	+	3	2	OAS1	111838705	0.000000	0.05858	0.149000	0.22428	0.360000	0.29518	0.097000	0.15168	0.224000	0.20940	-0.244000	0.11960	AAG	OAS1	-	pfam_2-5-oligoAdlate_synth_1_dom2/C		0.478	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	G			113354322	+1	no_errors	ENST00000445409	ensembl	human	known	70_37	missense	SNP	0.001	C
OR52N4	390072	genome.wustl.edu	37	11	5776878	5776878	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:5776878G>T	ENST00000317254.3	+	1	956	c.908G>T	c.(907-909)cGa>cTa	p.R303L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAACAGATACGAGACTGTGTC	0.423																																																	0													87.0	80.0	82.0					11																	5776878		1896	4141	6037	SO:0001583	missense	390072			AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.908G>T	11.37:g.5776878G>T	ENSP00000323224:p.Arg303Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNP8|Q6IF77	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R303L	ENST00000317254.3	37	c.908	CCDS44528.1	11	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740317	0.30865	.	.	ENSG00000181074	ENST00000317254	T	0.57595	0.39	5.69	1.78	0.24846	.	0.231783	0.21621	N	0.071660	T	0.54791	0.1880	M	0.72624	2.21	0.20074	N	0.999934	B	0.30763	0.294	B	0.39217	0.294	T	0.56171	-0.8023	10	0.87932	D	0	.	10.1572	0.42829	0.2764:0.0:0.7236:0.0	.	303	Q8NGI2	O52N4_HUMAN	L	303	ENSP00000323224:R303L	ENSP00000323224:R303L	R	+	2	0	OR52N4	5733454	0.011000	0.17503	0.638000	0.29380	0.075000	0.17131	1.670000	0.37502	0.778000	0.33520	-0.769000	0.03391	CGA	OR52N4	-	prints_GPCR_Rhodpsn		0.423	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	HGNC	protein_coding	OTTHUMT00000143350.1	G	NM_001005175		5776878	+1	no_errors	ENST00000317254	ensembl	human	known	70_37	missense	SNP	0.457	T
OR10A3	26496	genome.wustl.edu	37	11	7960477	7960477	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:7960477G>C	ENST00000360759.3	-	1	664	c.591C>G	c.(589-591)atC>atG	p.I197M		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	197					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAAGGCATAGATTTCAAATA	0.413																																																	0													91.0	86.0	88.0					11																	7960477		2201	4296	6497	SO:0001583	missense	26496			BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.591C>G	11.37:g.7960477G>C	ENSP00000353988:p.Ile197Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I197M	ENST00000360759.3	37	c.591	CCDS31421.1	11	.	.	.	.	.	.	.	.	.	.	G	0.128	-1.117554	0.01785	.	.	ENSG00000170683	ENST00000360759	T	0.00188	8.59	4.95	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.181749	0.26052	U	0.026633	T	0.00144	0.0004	N	0.26130	0.795	0.23238	N	0.998064	B	0.21452	0.056	B	0.33254	0.16	T	0.09509	-1.0671	10	0.09843	T	0.71	.	6.0006	0.19519	0.088:0.0:0.5762:0.3358	.	197	P58181	O10A3_HUMAN	M	197	ENSP00000353988:I197M	ENSP00000353988:I197M	I	-	3	3	OR10A3	7917053	0.000000	0.05858	1.000000	0.80357	0.610000	0.37248	-0.043000	0.12043	0.789000	0.33779	-0.188000	0.12872	ATC	OR10A3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A3	HGNC	protein_coding	OTTHUMT00000385704.1	G	NM_001003745		7960477	-1	no_errors	ENST00000360759	ensembl	human	known	70_37	missense	SNP	0.990	C
OR8J1	219477	genome.wustl.edu	37	11	56128642	56128642	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:56128642C>A	ENST00000303039.3	+	1	952	c.920C>A	c.(919-921)aCa>aAa	p.T307K		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	307						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(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					AGATTCATGACAAATCTGTGC	0.358																																																	0													63.0	58.0	60.0					11																	56128642		2201	4296	6497	SO:0001583	missense	219477			AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.920C>A	11.37:g.56128642C>A	ENSP00000304060:p.Thr307Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T307K	ENST00000303039.3	37	c.920	CCDS31529.1	11	.	.	.	.	.	.	.	.	.	.	C	0.080	-1.186106	0.01620	.	.	ENSG00000172487	ENST00000303039	T	0.35605	1.3	4.02	0.702	0.18110	.	0.833623	0.10606	N	0.655068	T	0.10508	0.0257	N	0.01482	-0.84	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34725	-0.9817	10	0.05721	T	0.95	.	6.1622	0.20370	0.3809:0.4336:0.1855:0.0	.	307	Q8NGP2	OR8J1_HUMAN	K	307	ENSP00000304060:T307K	ENSP00000304060:T307K	T	+	2	0	OR8J1	55885218	0.001000	0.12720	0.008000	0.14137	0.082000	0.17680	-0.025000	0.12413	0.436000	0.26393	0.549000	0.68633	ACA	OR8J1	-	NULL		0.358	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J1	HGNC	protein_coding	OTTHUMT00000391606.2	C	NM_001005205		56128642	+1	no_errors	ENST00000303039	ensembl	human	known	70_37	missense	SNP	0.038	A
PDCD6IP	10015	genome.wustl.edu	37	3	33863539	33863539	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:33863539G>A	ENST00000307296.3	+	4	804	c.427G>A	c.(427-429)Gat>Aat	p.D143N	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.D143N			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	143	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						CCTGGATAATGATGAAGGATT	0.363																																																	0													69.0	67.0	67.0					3																	33863539		2203	4300	6503	SO:0001583	missense	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.427G>A	3.37:g.33863539G>A	ENSP00000307387:p.Asp143Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.D143N	ENST00000307296.3	37	c.427	CCDS2660.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.628673	0.96671	.	.	ENSG00000170248	ENST00000307296;ENST00000457054;ENST00000413073	T;T;T	0.19250	2.16;2.16;2.16	5.7	5.7	0.88788	BRO1 domain (3);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.85462	2.755	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.79108	0.992;0.955;0.969	T	0.50294	-0.8845	10	0.34782	T	0.22	-15.9988	19.8436	0.96701	0.0:0.0:1.0:0.0	.	143;143;143	C5MQH7;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	N	143;143;93	ENSP00000307387:D143N;ENSP00000411825:D143N;ENSP00000406693:D93N	ENSP00000307387:D143N	D	+	1	0	PDCD6IP	33838543	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.695000	0.91970	0.650000	0.86243	GAT	PDCD6IP	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.363	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	G			33863539	+1	no_errors	ENST00000457054	ensembl	human	known	70_37	missense	SNP	1.000	A
PCNP	57092	genome.wustl.edu	37	3	101311589	101311589	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:101311589G>C	ENST00000265260.3	+	5	650	c.529G>C	c.(529-531)Gac>Cac	p.D177H	PCNP_ENST00000486406.1_3'UTR|PCNP_ENST00000296024.5_3'UTR|PCNP_ENST00000469941.1_Missense_Mutation_p.D54H	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	177					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						CCATGACCAAGACAATTAAAT	0.378																																																	0													59.0	63.0	61.0					3																	101311589		2203	4300	6503	SO:0001583	missense	57092				CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.529G>C	3.37:g.101311589G>C	ENSP00000265260:p.Asp177His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	NULL	p.D177H	ENST00000265260.3	37	c.529	CCDS2942.1	3	.	.	.	.	.	.	.	.	.	.	G	14.06	2.421240	0.42918	.	.	ENSG00000081154	ENST00000265260	.	.	.	5.05	5.05	0.67936	.	0.072860	0.64402	D	0.000020	T	0.39489	0.1080	N	0.22421	0.69	0.80722	D	1	P	0.36249	0.545	B	0.36244	0.22	T	0.43909	-0.9362	9	0.72032	D	0.01	.	11.9116	0.52743	0.0803:0.0:0.9197:0.0	.	177	Q8WW12	PCNP_HUMAN	H	177	.	ENSP00000265260:D177H	D	+	1	0	PCNP	102794279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.077000	0.50089	2.339000	0.79563	0.586000	0.80456	GAC	PCNP	-	NULL		0.378	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNP	HGNC	protein_coding	OTTHUMT00000353338.2	G	NM_020357		101311589	+1	no_errors	ENST00000265260	ensembl	human	known	70_37	missense	SNP	1.000	C
P2RY13	53829	genome.wustl.edu	37	3	151046485	151046485	+	Missense_Mutation	SNP	G	G	A	rs575804697		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:151046485G>A	ENST00000325602.5	-	2	378	c.359C>T	c.(358-360)tCg>tTg	p.S120L	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	120					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			AAATATCACCGAAGAAAAACG	0.443																																																	0													71.0	71.0	71.0					3																	151046485		2203	4300	6503	SO:0001583	missense	53829			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.359C>T	3.37:g.151046485G>A	ENSP00000320376:p.Ser120Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.S120L	ENST00000325602.5	37	c.359	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546608	0.65198	.	.	ENSG00000181631	ENST00000325602	T	0.35605	1.3	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.171153	0.51477	D	0.000100	T	0.53981	0.1830	M	0.68952	2.095	0.23215	N	0.998106	P	0.48998	0.918	P	0.53689	0.732	T	0.50808	-0.8784	10	0.59425	D	0.04	-9.7569	19.5537	0.95331	0.0:0.0:1.0:0.0	.	120	Q9BPV8	P2Y13_HUMAN	L	120	ENSP00000320376:S120L	ENSP00000320376:S120L	S	-	2	0	P2RY13	152529175	1.000000	0.71417	0.007000	0.13788	0.177000	0.22998	7.322000	0.79097	2.614000	0.88457	0.557000	0.71058	TCG	P2RY13	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.443	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	G	NM_023914		151046485	-1	no_errors	ENST00000325602	ensembl	human	known	70_37	missense	SNP	0.321	A
PDE1C	5137	genome.wustl.edu	37	7	31890315	31890315	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:31890315G>C	ENST00000396191.1	-	8	1246	c.791C>G	c.(790-792)tCa>tGa	p.S264*	PDE1C_ENST00000396193.1_Nonsense_Mutation_p.S324*|PDE1C_ENST00000396182.2_Nonsense_Mutation_p.S264*|PDE1C_ENST00000396184.3_Nonsense_Mutation_p.S264*|PDE1C_ENST00000321453.7_Nonsense_Mutation_p.S264*	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	264	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GATGGCAGCTGAGAAGATTAT	0.453																																																	0													182.0	163.0	170.0					7																	31890315		2203	4300	6503	SO:0001587	stop_gained	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.791C>G	7.37:g.31890315G>C	ENSP00000379494:p.Ser264*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPC6|E9PE92|Q14124|Q8NB10	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.S264*	ENST00000396191.1	37	c.791	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	g	41	8.913370	0.99000	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.91	5.91	0.95273	.	0.053985	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9008	0.96985	0.0:0.0:1.0:0.0	.	.	.	.	X	324;264;264;264;264	.	ENSP00000318105:S264X	S	-	2	0	PDE1C	31856840	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.805000	0.96524	0.651000	0.88453	TCA	PDE1C	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.453	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	HGNC	protein_coding	OTTHUMT00000328458.1	G			31890315	-1	no_errors	ENST00000321453	ensembl	human	known	70_37	nonsense	SNP	1.000	C
PDE3A	5139	genome.wustl.edu	37	12	20782869	20782869	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:20782869C>G	ENST00000359062.3	+	6	1608	c.1568C>G	c.(1567-1569)tCa>tGa	p.S523*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	523					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TCACCTCTTTCATCGCCCTGC	0.448																																																	0													92.0	93.0	93.0					12																	20782869		2203	4300	6503	SO:0001587	stop_gained	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1568C>G	12.37:g.20782869C>G	ENSP00000351957:p.Ser523*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.S523*	ENST00000359062.3	37	c.1568	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.563289	0.97667	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.2	4.29	0.51040	.	1.836580	0.02194	N	0.061674	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	8.322	0.32134	0.1568:0.7649:0.0:0.0782	.	.	.	.	X	523	.	ENSP00000351957:S523X	S	+	2	0	PDE3A	20674136	0.750000	0.28316	0.087000	0.20705	0.997000	0.91878	3.204000	0.51082	1.386000	0.46466	0.585000	0.79938	TCA	PDE3A	-	NULL		0.448	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20782869	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	nonsense	SNP	0.127	G
PDE4B	5142	genome.wustl.edu	37	1	66384436	66384436	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:66384436G>C	ENST00000329654.4	+	3	386	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	PDE4B_ENST00000371049.3_Missense_Mutation_p.E67Q	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	67					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AAGGACTCCTGAGGGAGATGG	0.502																																																	0													108.0	101.0	103.0					1																	66384436		2203	4300	6503	SO:0001583	missense	5142			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.199G>C	1.37:g.66384436G>C	ENSP00000332116:p.Glu67Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.E67Q	ENST00000329654.4	37	c.199	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850407	0.51270	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.17528	2.27;2.27;2.27	5.6	5.6	0.85130	.	0.539852	0.20696	N	0.087372	T	0.04497	0.0123	N	0.12182	0.205	0.36899	D	0.890324	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	10	0.17832	T	0.49	.	16.3143	0.82909	0.0:0.0:1.0:0.0	.	67	Q07343	PDE4B_HUMAN	Q	67	ENSP00000332116:E67Q;ENSP00000342637:E67Q;ENSP00000360088:E67Q	ENSP00000332116:E67Q	E	+	1	0	PDE4B	66157024	1.000000	0.71417	0.955000	0.39395	0.765000	0.43378	8.240000	0.89813	2.626000	0.88956	0.650000	0.86243	GAG	PDE4B	-	NULL		0.502	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	G	NM_002600		66384436	+1	no_errors	ENST00000329654	ensembl	human	known	70_37	missense	SNP	0.998	C
PDP2	57546	genome.wustl.edu	37	16	66919167	66919167	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:66919167C>T	ENST00000311765.2	+	2	1314	c.980C>T	c.(979-981)tCa>tTa	p.S327L	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	327					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CACCCTGAGTCAGAGGACAGG	0.572																																																	0													73.0	69.0	70.0					16																	66919167		2200	4300	6500	SO:0001583	missense	57546			AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.980C>T	16.37:g.66919167C>T	ENSP00000309548:p.Ser327Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K924	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S327L	ENST00000311765.2	37	c.980	CCDS10822.1	16	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559598	0.65538	.	.	ENSG00000172840	ENST00000311765	T	0.14766	2.48	5.92	5.92	0.95590	Protein phosphatase 2C-like (5);	0.141443	0.48767	D	0.000162	T	0.27900	0.0687	L	0.49778	1.585	0.53688	D	0.999971	P	0.35894	0.526	P	0.47705	0.555	T	0.00286	-1.1847	10	0.54805	T	0.06	-4.2472	20.3241	0.98686	0.0:1.0:0.0:0.0	.	327	Q9P2J9	PDP2_HUMAN	L	327	ENSP00000309548:S327L	ENSP00000309548:S327L	S	+	2	0	PDP2	65476668	0.872000	0.30054	0.988000	0.46212	0.699000	0.40488	3.706000	0.54830	2.812000	0.96745	0.563000	0.77884	TCA	PDP2	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.572	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDP2	HGNC	protein_coding	OTTHUMT00000268831.2	C	NM_020786		66919167	+1	no_errors	ENST00000311765	ensembl	human	known	70_37	missense	SNP	0.980	T
PI4KA	5297	genome.wustl.edu	37	22	21188890	21188890	+	Silent	SNP	T	T	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:21188890T>C	ENST00000572273.1	-	3	383	c.153A>G	c.(151-153)aaA>aaG	p.K51K	PI4KA_ENST00000255882.6_Silent_p.K109K			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	51					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)			CCCAATACACTTTTGGAAGAC	0.318																																					GBM(136;1332 1831 3115 23601 50806)												0													143.0	149.0	147.0					22																	21188890		2203	4300	6503	SO:0001819	synonymous_variant	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.153A>G	22.37:g.21188890T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z625|Q9UPG2	Silent	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.K109	ENST00000572273.1	37	c.327		22																																																																																			PI4KA	-	superfamily_ARM-type_fold		0.318	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		T	NM_058004		21188890	-1	no_errors	ENST00000255882	ensembl	human	known	70_37	silent	SNP	1.000	C
PIGK	10026	genome.wustl.edu	37	1	77685079	77685079	+	Silent	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:77685079G>A	ENST00000370812.3	-	1	32	c.9C>T	c.(7-9)gtC>gtT	p.V3V	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Silent_p.V3V|PIGK_ENST00000370813.5_Silent_p.V3V|PIGK_ENST00000445065.1_Silent_p.V3V	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	3				MAVT -> SLHEA (in Ref. 1). {ECO:0000305}.	attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						GGCTGTCGGTGACGGCCATGT	0.607																																																	0													27.0	27.0	27.0					1																	77685079		2203	4300	6503	SO:0001819	synonymous_variant	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.9C>T	1.37:g.77685079G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7K3|B4E2M3|O14822|Q5TG77	Silent	SNP	pfam_Peptidase_C13,prints_Peptidase_C13	p.V3	ENST00000370812.3	37	c.9	CCDS674.1	1																																																																																			PIGK	-	NULL		0.607	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGK	HGNC	protein_coding	OTTHUMT00000026687.1	G	NM_005482		77685079	-1	no_errors	ENST00000370812	ensembl	human	known	70_37	silent	SNP	0.014	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PNPLA5	150379	genome.wustl.edu	37	22	44282265	44282266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:44282265_44282266insC	ENST00000597664.1	-	6	995_996	c.866_867insG	c.(865-867)ggcfs	p.G289fs	PNPLA5_ENST00000381198.2_Frame_Shift_Ins_p.G175fs|PNPLA5_ENST00000216177.4_Frame_Shift_Ins_p.G289fs|PNPLA5_ENST00000593866.1_Frame_Shift_Ins_p.G175fs			Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	289					lipid catabolic process (GO:0016042)		hydrolase activity (GO:0016787)			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TGAGAGACAGGCCCCCCTTCCA	0.584																																																	0																																										SO:0001589	frameshift_variant	150379			Z97055	CCDS14053.1, CCDS54537.1	22q13.31	2009-01-12			ENSG00000100341	ENSG00000100341		"""Patatin-like phospholipase domain containing"""	24888	protein-coding gene	gene with protein product		611589				16799181, 19029121	Standard	NM_138814		Approved	dJ388M5.4, GS2L	uc003beg.3	Q7Z6Z6	OTTHUMG00000030779	ENST00000597664.1:c.867dupG	22.37:g.44282271_44282271dupC	ENSP00000471069:p.Gly289fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHL8|B3KPR1|Q6ZST0	Frame_Shift_Ins	INS	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	p.L290fs	ENST00000597664.1	37	c.867_866		22																																																																																			PNPLA5	-	NULL		0.584	PNPLA5-001	KNOWN	basic|appris_principal	protein_coding	PNPLA5	HGNC	protein_coding	OTTHUMT00000075667.4	-	NM_138814		44282266	-1	no_errors	ENST00000216177	ensembl	human	known	70_37	frame_shift_ins	INS	0.001:0.022	C
UBE2D4	51619	genome.wustl.edu	37	7	43992117	43992117	+	Intron	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:43992117C>T	ENST00000222402.3	+	7	487				RP5-1165K10.2_ENST00000454572.1_RNA|UBE2D4_ENST00000394798.4_Intron|POLR2J4_ENST00000427076.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						TTATTCCACTCACCCATCAGC	0.507																																					Esophageal Squamous(27;401 815 16344 30604)												0																																										SO:0001627	intron_variant	84820			BC004104	CCDS5474.1	7p13	2005-08-11			ENSG00000078967	ENSG00000078967		"""Ubiquitin-conjugating enzymes E2"""	21647	protein-coding gene	gene with protein product						12690205	Standard	NM_015983		Approved	HBUCE1	uc003tja.2	Q9Y2X8	OTTHUMG00000128971	ENST00000222402.3:c.399-132C>T	7.37:g.43992117C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1V0	RNA	SNP	-	NULL	ENST00000222402.3	37	NULL	CCDS5474.1	7																																																																																			POLR2J4	-	-		0.507	UBE2D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2J4	HGNC	protein_coding	OTTHUMT00000250958.2	C	NM_015983		43992117	-1	no_errors	ENST00000454572	ensembl	human	known	70_37	rna	SNP	0.000	T
PPP1R3F	89801	genome.wustl.edu	37	X	49143337	49143337	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:49143337G>A	ENST00000055335.6	+	4	2201	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E383K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E383K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E383K|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E400K	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	729					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTCCCAGGATGAAAAGGATGC	0.602																																																	0													63.0	49.0	54.0					X																	49143337		2203	4300	6503	SO:0001583	missense	89801				CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2185G>A	X.37:g.49143337G>A	ENSP00000055335:p.Glu729Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VDJ8|B3KPW2|E9PCM3	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.E729K	ENST00000055335.6	37	c.2185	CCDS35254.1	X	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775902	0.16051	.	.	ENSG00000049769	ENST00000466508;ENST00000438316;ENST00000055335;ENST00000495799;ENST00000376188	T;T;T;T;T	0.59502	0.69;0.69;0.26;0.69;0.69	4.73	3.87	0.44632	.	0.360291	0.23091	N	0.052027	T	0.43523	0.1251	L	0.29908	0.895	0.25411	N	0.988356	B;B;B	0.12630	0.003;0.006;0.001	B;B;B	0.12837	0.006;0.008;0.004	T	0.41610	-0.9499	10	0.72032	D	0.01	-0.0309	8.5594	0.33501	0.1132:0.0:0.8868:0.0	.	400;414;729	F5H262;A2VDJ8;Q6ZSY5	.;.;PPR3F_HUMAN	K	383;400;729;383;383	ENSP00000420687:E383K;ENSP00000415548:E400K;ENSP00000055335:E729K;ENSP00000417535:E383K;ENSP00000365359:E383K	ENSP00000055335:E729K	E	+	1	0	PPP1R3F	49030281	0.963000	0.33076	0.788000	0.31933	0.318000	0.28184	1.599000	0.36751	1.081000	0.41110	0.513000	0.50165	GAA	PPP1R3F	-	NULL		0.602	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R3F	HGNC	protein_coding	OTTHUMT00000060819.2	G	NM_033215		49143337	+1	no_errors	ENST00000055335	ensembl	human	known	70_37	missense	SNP	0.772	A
PTEN	5728	genome.wustl.edu	37	10	89685300	89685300	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:89685300C>G	ENST00000371953.3	+	3	1552	c.195C>G	c.(193-195)taC>taG	p.Y65*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	65	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.Y65*(5)|p.Y27fs*1(2)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAACCATTACAAGATATACA	0.269		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	58	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(6)|Substitution - Nonsense(5)|Complex - deletion inframe(1)	prostate(16)|central_nervous_system(14)|skin(7)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(4)|ovary(3)|urinary_tract(2)|breast(2)|soft_tissue(1)											37.0	39.0	39.0					10																	89685300		2182	4275	6457	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.195C>G	10.37:g.89685300C>G	ENSP00000361021:p.Tyr65*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Y65*	ENST00000371953.3	37	c.195	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	C	49	15.354545	0.99831	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.46	3.6	0.41247	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2654	11.1595	0.48507	0.0:0.8515:0.0:0.1485	.	.	.	.	X	65	.	.	Y	+	3	2	PTEN	89675280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.808000	0.38912	1.297000	0.44761	0.655000	0.94253	TAC	PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ		0.269	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89685300	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PTPRT	11122	genome.wustl.edu	37	20	41101176	41101176	+	Missense_Mutation	SNP	C	C	T	rs370385649		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr20:41101176C>T	ENST00000373187.1	-	8	1179	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K	PTPRT_ENST00000373201.1_Missense_Mutation_p.E394K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E394K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E394K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E394K|PTPRT_ENST00000373198.4_Missense_Mutation_p.E394K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E394K			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	394	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCTACGATTTCCACGTTCTGT	0.562																																																	0								C	LYS/GLU,LYS/GLU	1,4109		0,1,2054	49.0	56.0	54.0		1180,1180	5.7	1.0	20		54	0,8436		0,0,4218	no	missense,missense	PTPRT	NM_007050.5,NM_133170.3	56,56	0,1,6272	TT,TC,CC		0.0,0.0243,0.0080	benign,benign	394/1442,394/1461	41101176	1,12545	2055	4218	6273	SO:0001583	missense	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1180G>A	20.37:g.41101176C>T	ENSP00000362283:p.Glu394Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E394K	ENST00000373187.1	37	c.1180	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514922	0.27123	2.43E-4	0.0	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.100453	0.64402	D	0.000002	T	0.32971	0.0847	N	0.19112	0.55	0.43647	D	0.996059	B;B	0.33299	0.407;0.084	B;B	0.30782	0.12;0.025	T	0.14868	-1.0457	10	0.07644	T	0.81	.	19.8432	0.96699	0.0:1.0:0.0:0.0	.	394;394	O14522-1;O14522	.;PTPRT_HUMAN	K	394	ENSP00000362286:E394K;ENSP00000362283:E394K;ENSP00000362289:E394K;ENSP00000348408:E394K;ENSP00000362294:E394K;ENSP00000362280:E394K;ENSP00000362297:E394K	ENSP00000348408:E394K	E	-	1	0	PTPRT	40534590	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.366000	0.44204	2.700000	0.92200	0.462000	0.41574	GAA	PTPRT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			41101176	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	missense	SNP	1.000	T
RACGAP1	29127	genome.wustl.edu	37	12	50384052	50384052	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:50384052C>T	ENST00000427314.2	-	19	2121	c.1898G>A	c.(1897-1899)tGa>tAa	p.*633*	RACGAP1_ENST00000551016.1_Silent_p.*633*|RACGAP1_ENST00000548961.1_Intron|RACGAP1_ENST00000454520.2_Silent_p.*633*|RACGAP1_ENST00000434422.1_Silent_p.*633*|RACGAP1_ENST00000312377.5_Silent_p.*633*|RACGAP1_ENST00000547905.1_Silent_p.*633*	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						GATGTGACTTCACTTGAGCAT	0.428																																																	0													123.0	109.0	113.0					12																	50384052		2203	4300	6503	SO:0001819	synonymous_variant	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.1898G>A	12.37:g.50384052C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.*633	ENST00000427314.2	37	c.1898	CCDS8795.1	12																																																																																			RACGAP1	-	NULL		0.428	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	C	NM_013277		50384052	-1	no_errors	ENST00000312377	ensembl	human	known	70_37	silent	SNP	1.000	T
REG1A	5967	genome.wustl.edu	37	2	79349971	79349971	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:79349971G>A	ENST00000233735.1	+	5	429	c.326G>A	c.(325-327)cGc>cAc	p.R109H		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	109	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCTAGAACCGCCGCTGGCAC	0.547																																																	0													101.0	102.0	102.0					2																	79349971		2203	4300	6503	SO:0001583	missense	5967				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.326G>A	2.37:g.79349971G>A	ENSP00000233735:p.Arg109His	Somatic		WXS	Illumina HiSeq	Phase_IV	P11379|Q4ZG28	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R109H	ENST00000233735.1	37	c.326	CCDS1964.1	2	.	.	.	.	.	.	.	.	.	.	g	12.52	1.964053	0.34659	.	.	ENSG00000115386	ENST00000233735	T	0.08102	3.13	2.74	1.83	0.25207	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.382988	0.19189	N	0.120467	T	0.08358	0.0208	L	0.61218	1.895	0.26829	N	0.968617	B	0.12630	0.006	B	0.04013	0.001	T	0.14200	-1.0481	10	0.38643	T	0.18	.	4.9037	0.13788	0.1788:0.0:0.8212:0.0	.	109	P05451	REG1A_HUMAN	H	109	ENSP00000233735:R109H	ENSP00000233735:R109H	R	+	2	0	REG1A	79203479	0.015000	0.18098	0.840000	0.33206	0.752000	0.42762	-0.180000	0.09754	1.534000	0.49203	0.557000	0.71058	CGC	REG1A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.547	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	HGNC	protein_coding	OTTHUMT00000252289.1	G	NM_002909		79349971	+1	no_errors	ENST00000233735	ensembl	human	known	70_37	missense	SNP	0.865	A
RNF214	257160	genome.wustl.edu	37	11	117150913	117150913	+	Silent	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:117150913G>A	ENST00000531452.1	+	8	1129	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	RNF214_ENST00000531287.1_Silent_p.E206E|RNF214_ENST00000530849.1_Silent_p.E206E|RNF214_ENST00000300650.4_Silent_p.E361E	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	361							zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCCGGAAAGAGTTACTGGTAC	0.363																																																	0													145.0	134.0	137.0					11																	117150913		1828	4093	5921	SO:0001819	synonymous_variant	257160			AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.1083G>A	11.37:g.117150913G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUW0|B4DTD1	Silent	SNP	pfscan_Znf_RING	p.E361	ENST00000531452.1	37	c.1083	CCDS41720.1	11																																																																																			RNF214	-	NULL		0.363	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF214	HGNC	protein_coding	OTTHUMT00000392884.1	G	NM_001077239		117150913	+1	no_errors	ENST00000300650	ensembl	human	known	70_37	silent	SNP	0.998	A
ROCK1	6093	genome.wustl.edu	37	18	18539802	18539802	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:18539802C>G	ENST00000399799.2	-	29	4451	c.3511G>C	c.(3511-3513)Gat>Cat	p.D1171H		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1171	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GCAACTTACTCTATGTCCAAT	0.289																																																	0													58.0	53.0	55.0					18																	18539802		2202	4299	6501	SO:0001630	splice_region_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3512+1G>C	18.37:g.18539802C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.D1171H	ENST00000399799.2	37	c.3511	CCDS11870.2	18	.	.	.	.	.	.	.	.	.	.	C	27.2	4.813450	0.90790	.	.	ENSG00000067900	ENST00000399799	T	0.76316	-1.01	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.90829	0.4715	10	0.72032	D	0.01	.	19.0133	0.92882	0.0:1.0:0.0:0.0	.	1171	Q13464	ROCK1_HUMAN	H	1171	ENSP00000382697:D1171H	ENSP00000382697:D1171H	D	-	1	0	ROCK1	16793800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.773000	0.85462	2.555000	0.86185	0.536000	0.68110	GAT	ROCK1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology		0.289	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK1	HGNC	protein_coding	OTTHUMT00000254641.2	C	NM_005406	Missense_Mutation	18539802	-1	no_errors	ENST00000399799	ensembl	human	known	70_37	missense	SNP	1.000	G
RTF1	23168	genome.wustl.edu	37	15	41768712	41768712	+	Silent	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr15:41768712G>A	ENST00000389629.4	+	12	1563	c.1551G>A	c.(1549-1551)ctG>ctA	p.L517L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	517					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CTCAGCTACTGAAGGAAAAGG	0.448																																																	0													114.0	101.0	106.0					15																	41768712		2203	4300	6503	SO:0001819	synonymous_variant	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1551G>A	15.37:g.41768712G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96BX6	Silent	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.L517	ENST00000389629.4	37	c.1551	CCDS32200.2	15																																																																																			RTF1	-	NULL		0.448	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G	NM_015138		41768712	+1	no_errors	ENST00000389629	ensembl	human	known	70_37	silent	SNP	0.723	A
SAP130	79595	genome.wustl.edu	37	2	128712902	128712902	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:128712902C>T	ENST00000259235.3	-	15	2182	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	SAP130_ENST00000259234.6_Missense_Mutation_p.E693K|SAP130_ENST00000357702.5_Missense_Mutation_p.E720K	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	685					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACGTGGATTTCAGACTTGGGT	0.438																																																	0													72.0	78.0	76.0					2																	128712902		2203	4300	6503	SO:0001583	missense	79595			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2053G>A	2.37:g.128712902C>T	ENSP00000259235:p.Glu685Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.E720K	ENST00000259235.3	37	c.2158	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139980	0.77775	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.48	5.48	0.80851	.	0.231983	0.45867	D	0.000324	T	0.59555	0.2202	N	0.19112	0.55	0.53005	D	0.999968	D;D;P;D;P	0.63880	0.988;0.965;0.932;0.993;0.827	P;P;P;D;B	0.64144	0.717;0.655;0.655;0.922;0.345	T	0.51576	-0.8688	9	0.08837	T	0.75	-5.3996	19.4001	0.94625	0.0:1.0:0.0:0.0	.	720;693;685;250;322	B7ZLM3;Q96DP1;Q9H0E3;Q9H0E3-2;B3KRT9	.;.;SP130_HUMAN;.;.	K	720;685;693	.	ENSP00000259234:E693K	E	-	1	0	SAP130	128429372	1.000000	0.71417	0.914000	0.36105	0.933000	0.57130	7.016000	0.76393	2.583000	0.87209	0.632000	0.83419	GAA	SAP130	-	NULL		0.438	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	C	NM_024545		128712902	-1	no_errors	ENST00000357702	ensembl	human	known	70_37	missense	SNP	0.999	T
SCML2	10389	genome.wustl.edu	37	X	18283732	18283732	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:18283732C>G	ENST00000251900.4	-	8	1080	c.921G>C	c.(919-921)agG>agC	p.R307S	SCML2_ENST00000398048.3_Missense_Mutation_p.R43S	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	307					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					GACCTTTTTTCCTTGGTGTGA	0.363																																					Esophageal Squamous(100;1252 1965 19021 35517)												0													204.0	191.0	196.0					X																	18283732		2203	4300	6503	SO:0001583	missense	10389			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.921G>C	X.37:g.18283732C>G	ENSP00000251900:p.Arg307Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.R307S	ENST00000251900.4	37	c.921	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	C	7.922	0.738834	0.15642	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.49432	2.11;0.78	5.5	3.47	0.39725	.	.	.	.	.	T	0.38348	0.1037	M	0.61703	1.905	0.37491	D	0.916396	B;P;B	0.43094	0.354;0.799;0.215	B;B;B	0.38562	0.146;0.276;0.101	T	0.35325	-0.9793	9	0.10377	T	0.69	.	8.6608	0.34091	0.0:0.7531:0.0:0.2469	.	275;43;307	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	S	307;43;275	ENSP00000251900:R307S;ENSP00000381126:R43S	ENSP00000251900:R307S	R	-	3	2	SCML2	18193653	1.000000	0.71417	0.934000	0.37439	0.107000	0.19398	1.322000	0.33689	1.091000	0.41335	0.468000	0.43344	AGG	SCML2	-	NULL		0.363	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	C	NM_006089		18283732	-1	no_errors	ENST00000251900	ensembl	human	known	70_37	missense	SNP	1.000	G
SCN4A	6329	genome.wustl.edu	37	17	62020421	62020421	+	Silent	SNP	C	C	T	rs376395544		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:62020421C>T	ENST00000435607.1	-	23	4129	c.4053G>A	c.(4051-4053)acG>acA	p.T1351T	SCN4A_ENST00000578147.1_Silent_p.T1351T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1351					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGCCTGCTTCGTCACGAGGT	0.562																																																	0								C		0,4406		0,0,2203	218.0	198.0	205.0		4053	-7.7	0.2	17		205	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SCN4A	NM_000334.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1351/1837	62020421	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4053G>A	17.37:g.62020421C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15478|Q16447|Q7Z6B1	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.T1351	ENST00000435607.1	37	c.4053	CCDS45761.1	17																																																																																			SCN4A	-	NULL		0.562	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62020421	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	silent	SNP	0.453	T
SCN8A	6334	genome.wustl.edu	37	12	52168059	52168059	+	Silent	SNP	C	C	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr12:52168059C>A	ENST00000354534.6	+	20	3910	c.3732C>A	c.(3730-3732)atC>atA	p.I1244I	SCN8A_ENST00000545061.1_Silent_p.I1244I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1244					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATATCTTCATCCTGGAGATGT	0.488																																																	0													166.0	167.0	167.0					12																	52168059		2196	4300	6496	SO:0001819	synonymous_variant	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3732C>A	12.37:g.52168059C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I1244	ENST00000354534.6	37	c.3732	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Ion_trans_dom		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	C	NM_014191		52168059	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	silent	SNP	1.000	A
SEMA3D	223117	genome.wustl.edu	37	7	84751142	84751142	+	Silent	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr7:84751142C>T	ENST00000284136.6	-	1	109	c.66G>A	c.(64-66)ttG>ttA	p.L22L	SEMA3D_ENST00000444867.1_Silent_p.L22L	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	22					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTAGCATCATCAAAGCAGGAA	0.343																																					Ovarian(63;442 1191 17318 29975 31528)												0													110.0	107.0	108.0					7																	84751142		2203	4300	6503	SO:0001819	synonymous_variant	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.66G>A	7.37:g.84751142C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.L22	ENST00000284136.6	37	c.66	CCDS34676.1	7																																																																																			SEMA3D	-	NULL		0.343	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	HGNC	protein_coding	OTTHUMT00000336084.2	C	NM_152754		84751142	-1	no_errors	ENST00000284136	ensembl	human	known	70_37	silent	SNP	0.021	T
SGPP2	130367	genome.wustl.edu	37	2	223423365	223423365	+	Silent	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:223423365C>G	ENST00000321276.7	+	5	1034	c.948C>G	c.(946-948)ctC>ctG	p.L316L		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	316					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TCCCACCACTCACCACCTACA	0.468																																																	0													104.0	97.0	99.0					2																	223423365		2203	4300	6503	SO:0001819	synonymous_variant	130367			AF542512	CCDS2453.1	2q36.3	2010-05-26	2010-05-26		ENSG00000163082	ENSG00000163082			19953	protein-coding gene	gene with protein product		612827				12411432	Standard	NM_152386		Approved	SPP2, FLJ39004	uc010zlo.2	Q8IWX5	OTTHUMG00000133156	ENST00000321276.7:c.948C>G	2.37:g.223423365C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KPB4|Q8N8Q6	Silent	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.L316	ENST00000321276.7	37	c.948	CCDS2453.1	2																																																																																			SGPP2	-	NULL		0.468	SGPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPP2	HGNC	protein_coding	OTTHUMT00000256856.2	C			223423365	+1	no_errors	ENST00000321276	ensembl	human	known	70_37	silent	SNP	0.991	G
SLC24A4	123041	genome.wustl.edu	37	14	92905693	92905693	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:92905693C>G	ENST00000532405.1	+	4	559	c.333C>G	c.(331-333)ttC>ttG	p.F111L	SLC24A4_ENST00000351924.5_Missense_Mutation_p.F94L|SLC24A4_ENST00000298877.1_Missense_Mutation_p.F94L|SLC24A4_ENST00000531433.1_Missense_Mutation_p.F111L|SLC24A4_ENST00000393265.2_Missense_Mutation_p.F47L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	111					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TGTATATGTTCTATGCCTTGG	0.552																																					NSCLC(10;315 435 10383 28450 38798)												0													281.0	227.0	245.0					14																	92905693		2203	4300	6503	SO:0001583	missense	123041			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.333C>G	14.37:g.92905693C>G	ENSP00000431840:p.Phe111Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.F111L	ENST00000532405.1	37	c.333	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017993	0.75275	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461	T;T;T;T;T;T	0.77750	-1.02;-0.7;-0.72;-1.12;-1.08;-0.97	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.88983	0.6586	M	0.86573	2.825	0.50632	D	0.999882	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.90308	0.4335	10	0.62326	D	0.03	.	14.167	0.65483	0.0:0.9262:0.0:0.0738	.	111;47;111	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	L	47;111;111;94;94;2;2	ENSP00000376948:F47L;ENSP00000433302:F111L;ENSP00000431840:F111L;ENSP00000298877:F94L;ENSP00000337789:F94L;ENSP00000452099:F2L	ENSP00000298877:F94L	F	+	3	2	SLC24A4	91975446	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.848000	0.39309	2.466000	0.83321	0.561000	0.74099	TTC	SLC24A4	-	tigrfam_K/Na/Ca-exchanger		0.552	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	C	NM_153646		92905693	+1	no_errors	ENST00000532405	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC33A1	9197	genome.wustl.edu	37	3	155571018	155571018	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr3:155571018G>C	ENST00000392845.3	-	1	1149	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	SLC33A1_ENST00000359479.3_Missense_Mutation_p.L257V|SLC33A1_ENST00000460729.1_5'UTR			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	257					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTACCTGAAAGAGTAACGATT	0.383																																																	0													48.0	52.0	51.0					3																	155571018		2203	4300	6503	SO:0001583	missense	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.769C>G	3.37:g.155571018G>C	ENSP00000376587:p.Leu257Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.L257V	ENST00000392845.3	37	c.769	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086448	0.76642	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.81078	-1.45;-1.45	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);	0.181633	0.47852	D	0.000220	D	0.89068	0.6610	M	0.77406	2.37	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.90228	0.4277	10	0.72032	D	0.01	-16.6016	19.0305	0.92955	0.0:0.0:1.0:0.0	.	257	O00400	ACATN_HUMAN	V	257	ENSP00000376587:L257V;ENSP00000352456:L257V	ENSP00000352456:L257V	L	-	1	0	SLC33A1	157053712	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.170000	0.64990	2.556000	0.86216	0.555000	0.69702	CTT	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1		0.383	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	G	NM_004733		155571018	-1	no_errors	ENST00000359479	ensembl	human	known	70_37	missense	SNP	0.999	C
SLC6A19	340024	genome.wustl.edu	37	5	1216712	1216712	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr5:1216712C>G	ENST00000304460.10	+	7	983	c.927C>G	c.(925-927)atC>atG	p.I309M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	309					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTCCATCATCAACGGCTTCA	0.587																																																	0													309.0	220.0	250.0					5																	1216712		2203	4300	6503	SO:0001583	missense	340024			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.927C>G	5.37:g.1216712C>G	ENSP00000305302:p.Ile309Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.I309M	ENST00000304460.10	37	c.927	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494850	0.44352	.	.	ENSG00000174358	ENST00000304460	T	0.76839	-1.05	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	M	0.80746	2.51	0.53688	D	0.99997	D	0.57571	0.98	D	0.65573	0.936	D	0.86539	0.1827	10	0.72032	D	0.01	.	8.1123	0.30922	0.1562:0.7603:0.0:0.0835	.	309	Q695T7	S6A19_HUMAN	M	309	ENSP00000305302:I309M	ENSP00000305302:I309M	I	+	3	3	SLC6A19	1269712	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	2.296000	0.43584	2.112000	0.64535	0.491000	0.48974	ATC	SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.587	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	C	XM_291120		1216712	+1	no_errors	ENST00000304460	ensembl	human	known	70_37	missense	SNP	1.000	G
SNRNP200	23020	genome.wustl.edu	37	2	96970571	96970571	+	Silent	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:96970571G>A	ENST00000323853.5	-	2	158	c.81C>T	c.(79-81)ctC>ctT	p.L27L	SNRNP200_ENST00000349783.5_Silent_p.L27L|AC021188.4_ENST00000421534.1_RNA	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	27					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCCGGTCAATGAGAGAACGGT	0.507																																																	0													65.0	60.0	62.0					2																	96970571		2203	4300	6503	SO:0001819	synonymous_variant	23020			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.81C>T	2.37:g.96970571G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L27	ENST00000323853.5	37	c.81	CCDS2020.1	2																																																																																			SNRNP200	-	NULL		0.507	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	G	NM_014014		96970571	-1	no_errors	ENST00000323853	ensembl	human	known	70_37	silent	SNP	1.000	A
SNRPD1	6632	genome.wustl.edu	37	18	19192399	19192399	+	Silent	SNP	C	C	G	rs139445414		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr18:19192399C>G	ENST00000300413.5	+	1	172	c.9C>G	c.(7-9)ctC>ctG	p.L3L	SNRPD1_ENST00000579618.1_Silent_p.L3L|SNRPD1_ENST00000582475.1_5'UTR	NM_006938.2	NP_008869.1	P62314	SMD1_HUMAN	small nuclear ribonucleoprotein D1 polypeptide 16kDa	3	Sufficient for interaction with CLNS1A.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L3L(1)		lung(2)|prostate(1)	3						GGATGAAGCTCGTGAGGTGAG	0.622											OREG0024889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	prostate(1)											192.0	206.0	201.0					18																	19192399		2203	4300	6503	SO:0001819	synonymous_variant	6632			L36188	CCDS32801.1	18q11.2	2011-10-11	2002-08-29		ENSG00000167088	ENSG00000167088			11158	protein-coding gene	gene with protein product		601063	"""small nuclear ribonucleoprotein D1 polypeptide (16kD)"""	SNRPD		7527560, 1701240	Standard	NM_006938		Approved	HsT2456, Sm-D1	uc002ktj.1	P62314		ENST00000300413.5:c.9C>G	18.37:g.19192399C>G		Somatic	731	WXS	Illumina HiSeq	Phase_IV	B5BTZ1|P13641	Silent	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.L3	ENST00000300413.5	37	c.9	CCDS32801.1	18																																																																																			SNRPD1	-	superfamily_LSM_dom		0.622	SNRPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD1	HGNC	protein_coding	OTTHUMT00000444020.2	C	NM_006938		19192399	+1	no_errors	ENST00000300413	ensembl	human	known	70_37	silent	SNP	0.998	G
SPTBN2	6712	genome.wustl.edu	37	11	66460084	66460084	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr11:66460084C>T	ENST00000533211.1	-	26	5444	c.5113G>A	c.(5113-5115)Gac>Aac	p.D1705N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1705N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1705N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1705					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGTTCCAGGTCATCCAGCTCG	0.677																																																	0													49.0	46.0	47.0					11																	66460084		2200	4295	6495	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5113G>A	11.37:g.66460084C>T	ENSP00000432568:p.Asp1705Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.D1705N	ENST00000533211.1	37	c.5113	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747597	0.89663	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.55930	0.49;0.49;0.49	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	M	0.93197	3.39	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.85057	0.0932	10	0.72032	D	0.01	.	17.0374	0.86480	0.0:1.0:0.0:0.0	.	1705	O15020	SPTN2_HUMAN	N	1705	ENSP00000432568:D1705N;ENSP00000311489:D1705N;ENSP00000433593:D1705N	ENSP00000311489:D1705N	D	-	1	0	SPTBN2	66216660	1.000000	0.71417	0.999000	0.59377	0.263000	0.26337	7.604000	0.82830	2.550000	0.86006	0.462000	0.41574	GAC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.677	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	C	NM_006946		66460084	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	1.000	T
SRSF5	6430	genome.wustl.edu	37	14	70234911	70234911	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:70234911C>G	ENST00000553521.1	+	3	1491	c.38C>G	c.(37-39)cCa>cGa	p.P13R	SRSF5_ENST00000555349.1_Missense_Mutation_p.P13R|SRSF5_ENST00000557154.1_Missense_Mutation_p.P13R|SRSF5_ENST00000451983.2_Missense_Mutation_p.P13R|SRSF5_ENST00000394366.2_Missense_Mutation_p.P13R|SRSF5_ENST00000554021.1_Missense_Mutation_p.P13R|SRSF5_ENST00000553635.1_Missense_Mutation_p.P13R|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553548.1_Missense_Mutation_p.P13R			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	13	RRM 1. {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						AGACTAAATCCAGCGGCCAGG	0.428																																																	0													124.0	134.0	131.0					14																	70234911		2203	4300	6503	SO:0001583	missense	6430			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.38C>G	14.37:g.70234911C>G	ENSP00000452123:p.Pro13Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P13R	ENST00000553521.1	37	c.38	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917366	0.52546	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553548;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.048219	0.85682	D	0.000000	T	0.25121	0.0610	L	0.35593	1.075	0.80722	D	1	B;B;D	0.56521	0.074;0.012;0.976	B;B;P	0.53988	0.039;0.115;0.739	T	0.00516	-1.1694	10	0.26408	T	0.33	.	19.212	0.93760	0.0:1.0:0.0:0.0	.	13;13;13	Q13243-3;Q6FGE0;Q13243	.;.;SRSF5_HUMAN	R	13	ENSP00000452123:P13R;ENSP00000377892:P13R;ENSP00000452400:P13R;ENSP00000452449:P13R;ENSP00000451088:P13R;ENSP00000402734:P13R;ENSP00000451391:P13R;ENSP00000452090:P13R;ENSP00000450918:P13R	ENSP00000377892:P13R	P	+	2	0	SRSF5	69304664	1.000000	0.71417	0.988000	0.46212	0.985000	0.73830	5.927000	0.70080	2.778000	0.95560	0.655000	0.94253	CCA	SRSF5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.428	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	C	NM_001039465		70234911	+1	no_errors	ENST00000451983	ensembl	human	known	70_37	missense	SNP	1.000	G
SPTLC2	9517	genome.wustl.edu	37	14	77978688	77978688	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr14:77978688C>T	ENST00000216484.2	-	12	1821	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	543					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.R543L(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	AGGTACCAACCGATGACGGGA	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											164.0	144.0	151.0					14																	77978688		2203	4300	6503	SO:0001583	missense	9517			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1628G>A	14.37:g.77978688C>T	ENSP00000216484:p.Arg543Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16685	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R543Q	ENST00000216484.2	37	c.1628	CCDS9865.1	14	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570954	0.65765	.	.	ENSG00000100596	ENST00000216484	D	0.95069	-3.6	5.56	5.56	0.83823	.	0.268920	0.36002	N	0.002852	D	0.83064	0.5173	N	0.08118	0	0.48185	D	0.999607	P	0.42620	0.785	B	0.28139	0.086	D	0.84162	0.0429	10	0.13853	T	0.58	-13.3986	12.8661	0.57939	0.0:0.9254:0.0:0.0745	.	543	O15270	SPTC2_HUMAN	Q	543	ENSP00000216484:R543Q	ENSP00000216484:R543Q	R	-	2	0	SPTLC2	77048441	0.995000	0.38212	0.956000	0.39512	0.804000	0.45430	3.375000	0.52410	2.617000	0.88574	0.644000	0.83932	CGG	SPTLC2	-	NULL		0.483	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	HGNC	protein_coding	OTTHUMT00000414030.1	C	NM_004863		77978688	-1	no_errors	ENST00000216484	ensembl	human	known	70_37	missense	SNP	0.995	T
SYNGR4	23546	genome.wustl.edu	37	19	48869139	48869139	+	Missense_Mutation	SNP	G	G	A	rs201450222		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:48869139G>A	ENST00000344846.2	+	2	290	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	TMEM143_ENST00000541566.1_5'Flank|TMEM143_ENST00000293261.3_5'Flank|TMEM143_ENST00000435956.3_5'Flank|TMEM143_ENST00000377431.2_5'Flank|TMEM143_ENST00000436660.2_5'Flank|TMEM143_ENST00000598012.1_5'Flank	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	14						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GGCCAACAGCGAAGCCGTGCA	0.647																																																	0									LYS/GLU	0,4406		0,0,2203	105.0	103.0	104.0		40	4.9	0.3	19		104	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SYNGR4	NM_012451.3	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	14/235	48869139	2,13004	2203	4300	6503	SO:0001583	missense	23546			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.40G>A	19.37:g.48869139G>A	ENSP00000344041:p.Glu14Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KP58	Missense_Mutation	SNP	pfam_MARVEL-like_dom,pirsf_Synaptogyrin	p.E14K	ENST00000344846.2	37	c.40	CCDS12717.1	19	.	.	.	.	.	.	.	.	.	.	g	14.15	2.450998	0.43531	0.0	2.33E-4	ENSG00000105467	ENST00000344846	T	0.50001	0.76	4.9	4.9	0.64082	.	0.110737	0.64402	D	0.000015	T	0.40067	0.1102	N	0.22421	0.69	0.41780	D	0.989812	D	0.56746	0.977	P	0.44597	0.454	T	0.45071	-0.9286	10	0.59425	D	0.04	-20.6984	17.2344	0.86994	0.0:0.0:1.0:0.0	.	14	O95473	SNG4_HUMAN	K	14	ENSP00000344041:E14K	ENSP00000344041:E14K	E	+	1	0	SYNGR4	53560951	0.958000	0.32768	0.308000	0.25141	0.210000	0.24377	3.737000	0.55060	2.428000	0.82296	0.500000	0.49745	GAA	SYNGR4	-	pirsf_Synaptogyrin		0.647	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	HGNC	protein_coding	OTTHUMT00000465704.1	G			48869139	+1	no_errors	ENST00000344846	ensembl	human	known	70_37	missense	SNP	0.879	A
TBC1D3P2	440452	genome.wustl.edu	37	17	60344588	60344588	+	RNA	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr17:60344588G>C	ENST00000581291.1	-	0	916									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GAGCCCGAGAGAGATCTGTGG	0.572																																																	0																																												440452					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60344588G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000581291.1	37	NULL		17																																																																																			TBC1D3P2	-	-		0.572	TBC1D3P2-002	KNOWN	basic	processed_transcript	TBC1D3P2	HGNC	pseudogene	OTTHUMT00000445021.1	G	NR_027486		60344588	-1	no_errors	ENST00000339120	ensembl	human	known	70_37	rna	SNP	1.000	C
TCF20	6942	genome.wustl.edu	37	22	42610503	42610503	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr22:42610503G>C	ENST00000359486.3	-	1	945	c.809C>G	c.(808-810)tCt>tGt	p.S270C	TCF20_ENST00000335626.4_Missense_Mutation_p.S270C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	270					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCATACTGAGATCCAGCATT	0.458																																																	0													199.0	178.0	185.0					22																	42610503		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.809C>G	22.37:g.42610503G>C	ENSP00000352463:p.Ser270Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.S270C	ENST00000359486.3	37	c.809	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613950	0.66672	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.35605	1.3;1.3	5.33	5.33	0.75918	.	0.083063	0.52532	D	0.000076	T	0.49150	0.1540	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.993	T	0.52335	-0.8589	10	0.72032	D	0.01	-10.4087	19.2001	0.93708	0.0:0.0:1.0:0.0	.	270;270	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	C	270	ENSP00000352463:S270C;ENSP00000335561:S270C	ENSP00000335561:S270C	S	-	2	0	TCF20	40940447	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	8.832000	0.92079	2.768000	0.95171	0.655000	0.94253	TCT	TCF20	-	NULL		0.458	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	G	NM_181492		42610503	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	C
TIE1	7075	genome.wustl.edu	37	1	43784988	43784988	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr1:43784988G>A	ENST00000372476.3	+	18	3084	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R647Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1002	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTTTCTCGGGGAGAGGAG	0.572																																																	0													101.0	97.0	98.0					1																	43784988		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.3005G>A	1.37:g.43784988G>A	ENSP00000361554:p.Arg1002Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R1002Q	ENST00000372476.3	37	c.3005	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.840494	0.97009	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.84873	-1.91;-1.91	5.97	5.97	0.96955	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.35349	N	0.003272	D	0.93867	0.8038	M	0.87971	2.92	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.93912	0.7198	10	0.87932	D	0	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	957;647;1002	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	Q	1002;405;285;647	ENSP00000361554:R1002Q;ENSP00000411728:R647Q	ENSP00000361553:R405Q	R	+	2	0	TIE1	43557575	1.000000	0.71417	0.977000	0.42913	0.855000	0.48748	9.807000	0.99171	2.837000	0.97791	0.655000	0.94253	CGG	TIE1	-	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		0.572	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	G	NM_005424		43784988	+1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	A
TNRC6A	27327	genome.wustl.edu	37	16	24788506	24788506	+	Missense_Mutation	SNP	G	G	A	rs563907833		TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:24788506G>A	ENST00000395799.3	+	5	545	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R139Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	139	Interaction with argonaute family proteins.				cellular response to starvation (GO:0009267)|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)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GTACCTCCACGATTTCGCCAC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		16772	0.0		0.0	False		,,,				2504	0.001																0													95.0	106.0	102.0					16																	24788506		2184	4295	6479	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.416G>A	16.37:g.24788506G>A	ENSP00000379144:p.Arg139Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.R139Q	ENST00000395799.3	37	c.416	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513715	0.64522	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.18810	2.19;2.2	5.93	5.93	0.95920	.	0.000000	0.53938	D	0.000060	T	0.17789	0.0427	L	0.43923	1.385	0.80722	D	1	B	0.34061	0.436	B	0.21917	0.037	T	0.01648	-1.1304	10	0.56958	D	0.05	-6.7832	13.5351	0.61643	0.0709:0.0:0.9291:0.0	.	139	Q8NDV7	TNR6A_HUMAN	Q	139	ENSP00000326900:R139Q;ENSP00000379144:R139Q	ENSP00000326900:R139Q	R	+	2	0	TNRC6A	24696007	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.867000	0.69597	2.814000	0.96858	0.591000	0.81541	CGA	TNRC6A	-	NULL		0.557	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	G	NM_020847		24788506	+1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	A
TONSL	4796	genome.wustl.edu	37	8	145659414	145659414	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr8:145659414G>T	ENST00000409379.3	-	21	3363	c.3334C>A	c.(3334-3336)Ccc>Acc	p.P1112T	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1112					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGGCCTTCGGGACCCAGGTGA	0.662																																																	0													25.0	27.0	27.0					8																	145659414		2202	4300	6502	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3334C>A	8.37:g.145659414G>T	ENSP00000386239:p.Pro1112Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.P1112T	ENST00000409379.3	37	c.3334	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	7.299	0.612596	0.14066	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.52754	0.65	5.35	1.06	0.20224	.	0.408783	0.25604	N	0.029530	T	0.24470	0.0593	N	0.05383	-0.06	0.09310	N	1	P	0.34864	0.473	B	0.34991	0.193	T	0.17715	-1.0360	10	0.31617	T	0.26	-3.8919	10.1776	0.42948	0.0782:0.3385:0.5833:0.0	.	1112	Q96HA7	TONSL_HUMAN	T	1112;1111	ENSP00000386239:P1112T	ENSP00000386239:P1112T	P	-	1	0	TONSL	145630222	0.439000	0.25610	0.599000	0.28851	0.418000	0.31294	0.545000	0.23268	0.626000	0.30322	0.462000	0.41574	CCC	TONSL	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.662	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	G	NM_013432		145659414	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.087	T
TRIM39	56658	genome.wustl.edu	37	6	30297275	30297275	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr6:30297275G>C	ENST00000396547.1	+	2	341	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000540416.1_Missense_Mutation_p.E61Q|HCG18_ENST00000426882.1_RNA|TRIM39_ENST00000376656.4_Missense_Mutation_p.E61Q|TRIM39_ENST00000396548.1_Missense_Mutation_p.E61Q|TRIM39_ENST00000396551.3_Missense_Mutation_p.E61Q|TRIM39_ENST00000376659.5_Missense_Mutation_p.E61Q|HCG18_ENST00000413358.2_RNA|TRIM39-RPP21_ENST00000513556.1_5'Flank			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	61					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						GGAGGACCTAGAGAGGGACTT	0.542																																																	0													160.0	142.0	149.0					6																	30297275		1510	2709	4219	SO:0001583	missense	56658			BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.181G>C	6.37:g.30297275G>C	ENSP00000379796:p.Glu61Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E61Q	ENST00000396547.1	37	c.181	CCDS34377.1	6	.	.	.	.	.	.	.	.	.	.	G	4.590	0.109669	0.08780	.	.	ENSG00000204599	ENST00000458516;ENST00000440271;ENST00000396551;ENST00000376656;ENST00000545104;ENST00000540416;ENST00000449040;ENST00000428728;ENST00000396548;ENST00000376659;ENST00000396547	T;T;T;T;T;T;T;T;T	0.08193	3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12;3.12	5.15	4.27	0.50696	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.53938	D	0.000045	T	0.02380	0.0073	N	0.04132	-0.27	0.33481	D	0.587478	P;B	0.45078	0.85;0.012	P;B	0.51742	0.678;0.037	T	0.48139	-0.9061	10	0.12103	T	0.63	.	11.5226	0.50560	0.0:0.1802:0.8198:0.0	.	61;61	Q9HCM9;Q9HCM9-2	TRI39_HUMAN;.	Q	61	ENSP00000405928:E61Q;ENSP00000394768:E61Q;ENSP00000379800:E61Q;ENSP00000365844:E61Q;ENSP00000439400:E61Q;ENSP00000406019:E61Q;ENSP00000379797:E61Q;ENSP00000365847:E61Q;ENSP00000379796:E61Q	ENSP00000365844:E61Q	E	+	1	0	TRIM39	30405254	0.492000	0.26027	0.998000	0.56505	0.980000	0.70556	1.210000	0.32370	1.364000	0.46038	0.561000	0.74099	GAG	TRIM39	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.542	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	G	NM_172016		30297275	+1	no_errors	ENST00000376656	ensembl	human	known	70_37	missense	SNP	0.999	C
TSC2	7249	genome.wustl.edu	37	16	2137872	2137872	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:2137872C>G	ENST00000219476.3	+	39	5628	c.4998C>G	c.(4996-4998)ttC>ttG	p.F1666L	TSC2_ENST00000382538.6_Missense_Mutation_p.F1551L|TSC2_ENST00000568454.1_Missense_Mutation_p.F1610L|TSC2_ENST00000401874.2_Missense_Mutation_p.F1599L|TSC2_ENST00000439673.2_Missense_Mutation_p.F1563L|MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000353929.4_Missense_Mutation_p.F1623L|TSC2_ENST00000350773.4_Missense_Mutation_p.F1643L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1666	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGGGCCAGTTCAACTTTGTCC	0.617			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													68.0	47.0	54.0					16																	2137872		2195	4297	6492	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4998C>G	16.37:g.2137872C>G	ENSP00000219476:p.Phe1666Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.F1666L	ENST00000219476.3	37	c.4998	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261276	0.80246	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	4.59	4.59	0.56863	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97754	0.9263	M	0.89904	3.07	0.80722	D	1	D;D;D;P;D;D;D	0.65815	0.983;0.988;0.988;0.877;0.979;0.979;0.995	D;D;D;P;D;D;D	0.79108	0.992;0.981;0.992;0.78;0.986;0.986;0.989	D	0.97924	1.0316	10	0.52906	T	0.07	-34.5885	11.9415	0.52903	0.0:0.9154:0.0:0.0846	.	1551;1563;1643;441;1622;1599;1666	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	L	1666;1600;1623;1563;1551;1643	ENSP00000219476:F1666L;ENSP00000248099:F1623L;ENSP00000399232:F1563L;ENSP00000371978:F1551L;ENSP00000344383:F1643L	ENSP00000219476:F1666L	F	+	3	2	TSC2	2077873	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.251000	0.43187	2.099000	0.63709	0.467000	0.42956	TTC	TSC2	-	pfam_Rap_GAP,pfscan_Rap_GAP		0.617	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2137872	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179473514	179473514	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:179473514C>G	ENST00000591111.1	-	224	47525	c.47301G>C	c.(47299-47301)aaG>aaC	p.K15767N	TTN_ENST00000342175.6_Missense_Mutation_p.K8535N|TTN_ENST00000342992.6_Missense_Mutation_p.K14840N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8468N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8343N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K17408N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15767	Fibronectin type-III 14. {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)			TCTTGTCTTTCTTTTCCAAAG	0.373																																																	0													120.0	109.0	113.0					2																	179473514		1860	4105	5965	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47301G>C	2.37:g.179473514C>G	ENSP00000465570:p.Lys15767Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K14840N	ENST00000591111.1	37	c.44520		2	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759662	0.31137	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.53	5.53	0.82687	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79131	0.4394	M	0.91663	3.23	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.68943	0.947;0.947;0.947;0.961	D	0.83783	0.0226	9	0.87932	D	0	.	19.4714	0.94965	0.0:1.0:0.0:0.0	.	8343;8468;8535;15767	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	14840;8343;8535;8468;8343	ENSP00000343764:K14840N;ENSP00000434586:K8343N;ENSP00000340554:K8535N;ENSP00000352154:K8468N	ENSP00000340554:K8535N	K	-	3	2	TTN	179181759	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.730000	0.62015	2.596000	0.87737	0.563000	0.77884	AAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179473514	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
USP37	57695	genome.wustl.edu	37	2	219321885	219321885	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:219321885C>T	ENST00000258399.3	-	24	3056		c.e24-1		USP37_ENST00000454775.1_Splice_Site|USP37_ENST00000418019.1_Splice_Site|USP37_ENST00000415516.1_Splice_Site	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37						G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GATTTCCTGTCTGGAAAACAG	0.368																																																	0													81.0	74.0	76.0					2																	219321885		2203	4300	6503	SO:0001630	splice_region_variant	57695			AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2644-1G>A	2.37:g.219321885C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Splice_Site	SNP	-	e21-1	ENST00000258399.3	37	c.2644-1	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.594073	0.46214	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4426	0.87569	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP37	219030129	1.000000	0.71417	1.000000	0.80357	0.224000	0.24922	7.540000	0.82074	2.327000	0.79052	0.655000	0.94253	.	USP37	-	-		0.368	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	HGNC	protein_coding	OTTHUMT00000256779.3	C	NM_020935	Intron	219321885	-1	no_errors	ENST00000258399	ensembl	human	known	70_37	splice_site	SNP	1.000	T
USP54	159195	genome.wustl.edu	37	10	75258749	75258749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr10:75258749G>A	ENST00000339859.4	-	23	4793	c.4693C>T	c.(4693-4695)Caa>Taa	p.Q1565*	RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|PPP3CB_ENST00000342558.3_5'Flank|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|USP54_ENST00000422491.2_Nonsense_Mutation_p.Q700*|PPP3CB_ENST00000394828.2_5'Flank|USP54_ENST00000408019.1_Nonsense_Mutation_p.Q1565*|USP54_ENST00000394811.2_Nonsense_Mutation_p.Q606*|PPP3CB_ENST00000394822.2_5'Flank|PPP3CB_ENST00000360663.5_5'Flank|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Nonsense_Mutation_p.Q1415*|PPP3CB_ENST00000394829.2_5'Flank|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1565					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGGTTAGTTGAGGATTGCAC	0.547																																					Colon(195;880 2046 8854 25025 38456)												0													251.0	222.0	232.0					10																	75258749		2203	4300	6503	SO:0001587	stop_gained	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4693C>T	10.37:g.75258749G>A	ENSP00000345216:p.Gln1565*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q1565*	ENST00000339859.4	37	c.4693	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	41	8.721230	0.98929	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.4985	14.0551	0.64764	0.0:0.0:0.8395:0.1605	.	.	.	.	X	1565;1565;1415;606;700	.	ENSP00000345216:Q1565X	Q	-	1	0	USP54	74928755	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.064000	0.41432	2.509000	0.84616	0.542000	0.68232	CAA	USP54	-	NULL		0.547	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	G	NM_152586		75258749	-1	no_errors	ENST00000339859	ensembl	human	known	70_37	nonsense	SNP	0.999	A
USP7	7874	genome.wustl.edu	37	16	9024213	9024213	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:9024213C>A	ENST00000344836.4	-	2	319	c.121G>T	c.(121-123)Gtg>Ttg	p.V41L	USP7_ENST00000566224.1_5'UTR|USP7_ENST00000381886.4_Missense_Mutation_p.V25L|USP7_ENST00000535863.1_5'UTR	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	41	Interaction with TSPYL5.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCATTGATCACAGGGTTCTGA	0.488																																																	0													175.0	123.0	140.0					16																	9024213		2197	4300	6497	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.121G>T	16.37:g.9024213C>A	ENSP00000343535:p.Val41Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19	p.V41L	ENST00000344836.4	37	c.121	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004190	0.93287	.	.	ENSG00000187555	ENST00000344836;ENST00000381886	T	0.06687	3.27	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.36915	-0.9728	10	0.27785	T	0.31	.	19.5934	0.95525	0.0:1.0:0.0:0.0	.	41;25	Q93009;B7Z815	UBP7_HUMAN;.	L	41;49	ENSP00000343535:V41L	ENSP00000343535:V41L	V	-	1	0	USP7	8931714	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.980000	0.70516	2.635000	0.89317	0.467000	0.42956	GTG	USP7	-	NULL		0.488	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	HGNC	protein_coding	OTTHUMT00000434268.2	C			9024213	-1	no_errors	ENST00000344836	ensembl	human	known	70_37	missense	SNP	1.000	A
USP9X	8239	genome.wustl.edu	37	X	41077746	41077746	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:41077746G>A	ENST00000324545.8	+	37	6964	c.6331G>A	c.(6331-6333)Gaa>Aaa	p.E2111K	USP9X_ENST00000378308.2_Missense_Mutation_p.E2111K	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2111					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCCTAGTGCAGAAGTGAGGGG	0.443																																					Ovarian(172;1807 2695 35459 49286)												0													214.0	187.0	196.0					X																	41077746		2203	4300	6503	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6331G>A	X.37:g.41077746G>A	ENSP00000316357:p.Glu2111Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.E2111K	ENST00000324545.8	37	c.6331	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.621777	0.96660	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03553	3.9;3.89	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	M	0.79475	2.455	0.80722	D	1	D;D	0.65815	0.993;0.995	P;P	0.57101	0.813;0.743	T	0.01309	-1.1389	10	0.31617	T	0.26	.	19.0277	0.92939	0.0:0.0:1.0:0.0	.	2111;2111	Q93008-1;Q93008	.;USP9X_HUMAN	K	2111	ENSP00000367558:E2111K;ENSP00000316357:E2111K	ENSP00000316357:E2111K	E	+	1	0	USP9X	40962690	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.442000	0.82660	0.513000	0.50165	GAA	USP9X	-	NULL		0.443	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		41077746	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR35	57539	genome.wustl.edu	37	2	20189768	20189768	+	Silent	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:20189768G>A	ENST00000345530.3	-	1	124	c.9C>T	c.(7-9)ttC>ttT	p.F3F	AC079145.4_ENST00000416575.1_RNA|WDR35_ENST00000281405.4_Silent_p.F3F	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	3					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCAGGTAGAAGAACATCG	0.617																																																	0													83.0	71.0	75.0					2																	20189768		2203	4300	6503	SO:0001819	synonymous_variant	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.9C>T	2.37:g.20189768G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F3	ENST00000345530.3	37	c.9	CCDS33152.1	2																																																																																			WDR35	-	pirsf_WD_repeat_p35		0.617	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	G	NM_020779		20189768	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	silent	SNP	1.000	A
ZAR1	326340	genome.wustl.edu	37	4	48492817	48492817	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr4:48492817C>T	ENST00000327939.4	+	1	549	c.509C>T	c.(508-510)cCg>cTg	p.P170L		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	170					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						AACGGCGCCCCGCGGCCCATG	0.786																																																	0													5.0	5.0	5.0					4																	48492817		1453	3073	4526	SO:0001583	missense	326340			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.509C>T	4.37:g.48492817C>T	ENSP00000329803:p.Pro170Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.P170L	ENST00000327939.4	37	c.509	CCDS3483.1	4	.	.	.	.	.	.	.	.	.	.	C	4.731	0.135920	0.09032	.	.	ENSG00000182223	ENST00000327939	.	.	.	3.21	0.27	0.15635	.	1.237410	0.05927	N	0.634533	T	0.19208	0.0461	N	0.24115	0.695	0.09310	N	1	B	0.32071	0.355	B	0.15484	0.013	T	0.13045	-1.0524	9	0.30078	T	0.28	0.2968	3.4863	0.07620	0.1719:0.5594:0.167:0.1017	.	170	Q86SH2	ZAR1_HUMAN	L	170	.	ENSP00000329803:P170L	P	+	2	0	ZAR1	48187574	0.191000	0.23288	0.002000	0.10522	0.007000	0.05969	-0.044000	0.12023	-0.443000	0.07180	-0.448000	0.05591	CCG	ZAR1	-	NULL		0.786	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1	HGNC	protein_coding	OTTHUMT00000219927.3	C			48492817	+1	no_errors	ENST00000327939	ensembl	human	known	70_37	missense	SNP	0.018	T
ZNF320	162967	genome.wustl.edu	37	19	53384853	53384853	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:53384853G>A	ENST00000595635.1	-	8	1027	c.526C>T	c.(526-528)Ctt>Ttt	p.L176F	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Missense_Mutation_p.L176F	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TGTATTTCAAGATGTGATTTG	0.353																																																	0													63.0	61.0	62.0					19																	53384853		2203	4300	6503	SO:0001583	missense	162967			AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.526C>T	19.37:g.53384853G>A	ENSP00000473091:p.Leu176Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDR6	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.L176F	ENST00000595635.1	37	c.526	CCDS33095.1	19	.	.	.	.	.	.	.	.	.	.	-	10.91	1.483517	0.26598	.	.	ENSG00000182986	ENST00000391781	T	0.52057	0.68	1.75	0.524	0.17066	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34658	0.0905	L	0.60067	1.865	0.09310	N	1	P	0.39157	0.662	B	0.31101	0.124	T	0.25152	-1.0140	9	0.59425	D	0.04	.	3.7298	0.08488	0.1579:0.0:0.5993:0.2427	.	176	A2RRD8	ZN320_HUMAN	F	176	ENSP00000375660:L176F	ENSP00000375660:L176F	L	-	1	0	ZNF320	58076665	0.004000	0.15560	0.001000	0.08648	0.007000	0.05969	0.345000	0.19979	0.043000	0.15746	0.196000	0.17591	CTT	ZNF320	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF320	HGNC	protein_coding	OTTHUMT00000463771.1	G	NM_207333		53384853	-1	no_errors	ENST00000391781	ensembl	human	known	70_37	missense	SNP	0.001	A
KRBOX4	55634	genome.wustl.edu	37	X	46332435	46332435	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chrX:46332435G>C	ENST00000344302.4	+	6	1135	c.504G>C	c.(502-504)aaG>aaC	p.K168N	KRBOX4_ENST00000478600.1_Intron|KRBOX4_ENST00000298190.6_Missense_Mutation_p.K163N|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000360017.5_3'UTR	NM_001129898.1|NM_017776.2	NP_001123370.1|NP_060246.2	Q5JUW0	KRBX4_HUMAN	KRAB box domain containing 4	168					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)										AGCTATGTAAGAAAGAAAGAT	0.333																																																	0													55.0	50.0	52.0					X																	46332435		2201	4298	6499	SO:0001583	missense	55634				CCDS14267.1, CCDS48097.1, CCDS48098.1	Xp11.3	2013-01-08	2013-01-08	2013-01-08	ENSG00000147121	ENSG00000147121		"""-"""	26007	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20344"""	300585	"""zinc finger protein 673"", ""zinc finger family member 673"""	ZNF673		11944989	Standard	NM_001129898		Approved	FLJ20344	uc004dgn.4	Q5JUW0	OTTHUMG00000021421	ENST00000344302.4:c.504G>C	X.37:g.46332435G>C	ENSP00000345797:p.Lys168Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Y8|B3KU22|Q96EA3|Q9NXB1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.K168N	ENST00000344302.4	37	c.504	CCDS48097.1	X	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.993669	0.00439	.	.	ENSG00000147121	ENST00000344302;ENST00000298190;ENST00000397212	T;T	0.00856	5.61;5.68	1.97	0.119	0.14685	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	P;P	0.45078	0.767;0.85	B;B	0.37267	0.124;0.245	T	0.53535	-0.8425	9	0.37606	T	0.19	1.0E-4	5.759	0.18188	0.3326:0.0:0.6674:0.0	.	168;163	Q5JUW0;Q5JUW0-2	ZN673_HUMAN;.	N	168;163;168	ENSP00000345797:K168N;ENSP00000298190:K163N	ENSP00000298190:K163N	K	+	3	2	ZNF673	46217379	0.470000	0.25854	0.007000	0.13788	0.019000	0.09904	2.700000	0.47085	-0.070000	0.12908	-0.296000	0.09543	AAG	ZNF673	-	NULL		0.333	KRBOX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF673	HGNC	protein_coding	OTTHUMT00000056359.2	G	NM_017776		46332435	+1	no_errors	ENST00000344302	ensembl	human	known	70_37	missense	SNP	0.036	C
ZNF768	79724	genome.wustl.edu	37	16	30536174	30536174	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr16:30536174G>C	ENST00000380412.5	-	2	1462	c.1287C>G	c.(1285-1287)ttC>ttG	p.F429L	ZNF768_ENST00000562803.1_Missense_Mutation_p.F398L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	429					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CAGGGCACTTGAAGGGCTTCT	0.692																																																	0													24.0	26.0	25.0					16																	30536174		2196	4298	6494	SO:0001583	missense	79724			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1287C>G	16.37:g.30536174G>C	ENSP00000369777:p.Phe429Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F429L	ENST00000380412.5	37	c.1287	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508875	0.64410	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.21932	1.98	4.72	1.65	0.23941	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000724	T	0.33381	0.0861	L	0.60957	1.885	0.33502	D	0.590107	D	0.56746	0.977	P	0.60012	0.867	T	0.46076	-0.9217	10	0.87932	D	0	-2.921	8.4774	0.33021	0.3344:0.0:0.6656:0.0	.	429	Q9H5H4	ZN768_HUMAN	L	429;342	ENSP00000369777:F429L	ENSP00000369777:F429L	F	-	3	2	ZNF768	30443675	0.403000	0.25319	1.000000	0.80357	0.994000	0.84299	2.103000	0.41806	0.220000	0.20860	0.436000	0.28706	TTC	ZNF768	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.692	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	G	NM_024671		30536174	-1	no_errors	ENST00000380412	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF791	163049	genome.wustl.edu	37	19	12740056	12740056	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:12740056G>C	ENST00000343325.4	+	4	1875	c.1713G>C	c.(1711-1713)atG>atC	p.M571I	ZNF791_ENST00000458122.3_Missense_Mutation_p.M539I|ZNF791_ENST00000540038.1_Missense_Mutation_p.M462I|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	571					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)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAAAACATATGAGAATGCACA	0.338																																																	0													51.0	55.0	54.0					19																	12740056		2202	4300	6502	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1713G>C	19.37:g.12740056G>C	ENSP00000342974:p.Met571Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z586|Q8NC99	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.M571I	ENST00000343325.4	37	c.1713	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	2.457	-0.325110	0.05350	.	.	ENSG00000173875	ENST00000343325;ENST00000458122;ENST00000540038	T;T;T	0.09073	3.02;3.02;3.02	1.83	-0.854	0.10705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05868	0.0153	L	0.33245	0.995	0.24646	N	0.993543	B	0.06786	0.001	B	0.04013	0.001	T	0.38714	-0.9648	9	0.87932	D	0	.	2.7683	0.05327	0.1714:0.0:0.3501:0.4785	.	571	Q3KP31	ZN791_HUMAN	I	571;539;462	ENSP00000342974:M571I;ENSP00000441761:M539I;ENSP00000441038:M462I	ENSP00000342974:M571I	M	+	3	0	ZNF791	12601056	0.000000	0.05858	0.137000	0.22149	0.092000	0.18411	0.166000	0.16583	-0.329000	0.08527	-0.500000	0.04577	ATG	ZNF791	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	G	NM_153358		12740056	+1	no_errors	ENST00000343325	ensembl	human	known	70_37	missense	SNP	0.931	C
ZNF98	148198	genome.wustl.edu	37	19	22585688	22585688	+	Splice_Site	SNP	T	T	A			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr19:22585688T>A	ENST00000357774.5	-	3	279		c.e3-2		ZNF98_ENST00000601553.1_Splice_Site	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGCAATACCTGTTTTATTAC	0.373																																																	0													70.0	73.0	72.0					19																	22585688		2169	4283	6452	SO:0001630	splice_region_variant	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.158-2A>T	19.37:g.22585688T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e3-2	ENST00000357774.5	37	c.158-2	CCDS46031.1	19	.	.	.	.	.	.	.	.	.	.	.	9.848	1.192959	0.21954	.	.	ENSG00000197360	ENST00000357774	.	.	.	0.476	0.476	0.16779	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999927	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF98	22377528	0.357000	0.24938	0.726000	0.30738	0.784000	0.44337	1.242000	0.32755	0.447000	0.26695	0.248000	0.18094	.	ZNF98	-	-		0.373	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF98	HGNC	protein_coding	OTTHUMT00000464398.1	T	NM_001098626	Intron	22585688	-1	no_errors	ENST00000357774	ensembl	human	known	70_37	splice_site	SNP	0.741	A
ZSWIM2	151112	genome.wustl.edu	37	2	187693277	187693277	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BM-01A-11D-A13W-08	TCGA-C5-A1BM-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021319d5-4f58-440f-a74b-e3a0159d35ec	bcf97f0d-dd63-4c01-9eb7-3c42ee52fffd	g.chr2:187693277G>C	ENST00000295131.2	-	9	1375	c.1336C>G	c.(1336-1338)Cag>Gag	p.Q446E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	446					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAATTACACTGAGGTATGCTA	0.308																																																	0													59.0	65.0	63.0					2																	187693277		2201	4297	6498	SO:0001583	missense	151112			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1336C>G	2.37:g.187693277G>C	ENSP00000295131:p.Gln446Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.Q446E	ENST00000295131.2	37	c.1336	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	G	3.091	-0.186952	0.06299	.	.	ENSG00000163012	ENST00000295131	T	0.22945	1.93	5.03	2.03	0.26663	.	0.425675	0.20083	N	0.099609	T	0.17916	0.0430	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17684	-1.0361	10	0.46703	T	0.11	-0.3959	9.2883	0.37771	0.0:0.2854:0.5685:0.146	.	446	Q8NEG5	ZSWM2_HUMAN	E	446	ENSP00000295131:Q446E	ENSP00000295131:Q446E	Q	-	1	0	ZSWIM2	187401522	0.392000	0.25229	0.056000	0.19401	0.128000	0.20619	1.590000	0.36654	1.243000	0.43853	0.591000	0.81541	CAG	ZSWIM2	-	NULL		0.308	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	G	NM_182521		187693277	-1	no_errors	ENST00000295131	ensembl	human	known	70_37	missense	SNP	0.009	C
