#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
ABCC3	8714	genome.wustl.edu	37	17	48750921	48750921	+	Missense_Mutation	SNP	C	C	T	rs369718940		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:48750921C>T	ENST00000285238.8	+	19	2581	c.2501C>T	c.(2500-2502)cCg>cTg	p.P834L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	834	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	GAGATGGGCCCGTACCCAGCC	0.602																																																	0								C	LEU/PRO	0,4406		0,0,2203	123.0	104.0	110.0		2501	3.8	0.8	17		110	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCC3	NM_003786.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	834/1528	48750921	1,13005	2203	4300	6503	SO:0001583	missense	8714			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2501C>T	17.37:g.48750921C>T	ENSP00000285238:p.Pro834Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.P834L	ENST00000285238.8	37	c.2501	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560334	0.65538	0.0	1.16E-4	ENSG00000108846	ENST00000285238	T	0.77098	-1.07	4.83	3.76	0.43208	ABC transporter-like (1);	0.725129	0.13159	N	0.409226	T	0.72938	0.3523	L	0.55481	1.735	0.44395	D	0.997306	B	0.31209	0.313	B	0.21917	0.037	T	0.72434	-0.4295	10	0.87932	D	0	-7.9649	14.2532	0.66033	0.1896:0.8104:0.0:0.0	.	834	O15438	MRP3_HUMAN	L	834	ENSP00000285238:P834L	ENSP00000285238:P834L	P	+	2	0	ABCC3	46105920	1.000000	0.71417	0.778000	0.31720	0.952000	0.60782	6.010000	0.70753	1.117000	0.41842	0.561000	0.74099	CCG	ABCC3	-	pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.602	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	HGNC	protein_coding	OTTHUMT00000368083.2	C	NM_020038		48750921	+1	no_errors	ENST00000285238	ensembl	human	known	70_37	missense	SNP	1.000	T
AHCYL1	10768	genome.wustl.edu	37	1	110561084	110561084	+	Missense_Mutation	SNP	G	G	A	rs538566120		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:110561084G>A	ENST00000369799.5	+	12	1580	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	AHCYL1_ENST00000393614.4_Missense_Mutation_p.D358N|AHCYL1_ENST00000359172.3_Missense_Mutation_p.D358N	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	405	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CACAGAAATCGATGTGGTAAG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18242	0.0		0.0	False		,,,				2504	0.001																0													114.0	93.0	100.0					1																	110561084		2203	4300	6503	SO:0001583	missense	10768			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1213G>A	1.37:g.110561084G>A	ENSP00000358814:p.Asp405Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	p.D405N	ENST00000369799.5	37	c.1213	CCDS818.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.096581	0.94197	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.79940	-1.32;-1.3;-1.3	5.8	5.8	0.92144	S-adenosyl-L-homocysteine hydrolase, NAD binding (1);	0.000000	0.85682	D	0.000000	T	0.78953	0.4365	L	0.55834	1.745	0.80722	D	1	P	0.41910	0.764	P	0.45829	0.494	T	0.80476	-0.1366	10	0.59425	D	0.04	-7.0646	20.0706	0.97721	0.0:0.0:1.0:0.0	.	405	O43865	SAHH2_HUMAN	N	405;358;358	ENSP00000358814:D405N;ENSP00000352092:D358N;ENSP00000377238:D358N	ENSP00000352092:D358N	D	+	1	0	AHCYL1	110362607	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	9.869000	0.99810	2.744000	0.94065	0.655000	0.94253	GAT	AHCYL1	-	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.413	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	HGNC	protein_coding	OTTHUMT00000032243.1	G			110561084	+1	no_errors	ENST00000369799	ensembl	human	known	70_37	missense	SNP	1.000	A
ANXA9	8416	genome.wustl.edu	37	1	150958852	150958852	+	Silent	SNP	C	C	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:150958852C>A	ENST00000368947.4	+	8	989	c.513C>A	c.(511-513)acC>acA	p.T171T		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	171					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|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)			CATCTGAGACCAGTGGCATCT	0.562																																																	0													78.0	67.0	71.0					1																	150958852		2203	4300	6503	SO:0001819	synonymous_variant	8416			AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.513C>A	1.37:g.150958852C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI	p.T171	ENST00000368947.4	37	c.513	CCDS975.2	1																																																																																			ANXA9	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat		0.562	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA9	HGNC	protein_coding	OTTHUMT00000084895.2	C	NM_003568		150958852	+1	no_errors	ENST00000368947	ensembl	human	known	70_37	silent	SNP	0.079	A
ASNA1	439	genome.wustl.edu	37	19	12858250	12858250	+	Silent	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:12858250G>A	ENST00000591090.1	+	7	861	c.759G>A	c.(757-759)ctG>ctA	p.L253L	ASNA1_ENST00000357332.3_Silent_p.L253L					arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)											endometrium(1)|lung(6)|ovary(3)	10						CTGAGTTCCTGTCCCTGTATG	0.567																																																	0													83.0	74.0	77.0					19																	12858250		2203	4300	6503	SO:0001819	synonymous_variant	439			U60276	CCDS32920.1	19p13.13	2010-08-05	2001-12-04			ENSG00000198356			752	protein-coding gene	gene with protein product	"""golgi to ER traffic 3 homolog (S. cerevisiae)"", ""transmembrane domain recognition complex, 40kDa"""	601913	"""arsA (bacterial) arsenite transporter, ATP-binding, homolog 1"""			8884272, 17382883	Standard	NM_004317		Approved	ARSA-I, GET3, TRC40	uc002muv.3	O43681		ENST00000591090.1:c.759G>A	19.37:g.12858250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3	p.L253	ENST00000591090.1	37	c.759	CCDS32920.1	19																																																																																			ASNA1	-	pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,tigrfam_ATPase_ArsA/Get3		0.567	ASNA1-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ASNA1	HGNC	protein_coding	OTTHUMT00000450921.1	G	NM_004317		12858250	+1	no_errors	ENST00000357332	ensembl	human	known	70_37	silent	SNP	1.000	A
ATP6V0D1	9114	genome.wustl.edu	37	16	67514899	67514899	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:67514899C>T	ENST00000290949.3	-	1	241	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	RP11-297D21.4_ENST00000602596.1_RNA|ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.A31T	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	31					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP hydrolysis coupled proton transport (GO:0015991)|brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|cellular protein metabolic process (GO:0044267)|cilium assembly (GO:0042384)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|synaptic vesicle (GO:0008021)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		AGGTAGTCGGCCTGGCTGAGC	0.642																																																	0													52.0	53.0	53.0					16																	67514899		2198	4300	6498	SO:0001583	missense	9114			X71490	CCDS10838.1	16q22	2010-04-21	2006-01-20	2002-05-10	ENSG00000159720	ENSG00000159720		"""ATPases / V-type"""	13724	protein-coding gene	gene with protein product		607028	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), member D"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 1"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D1"""	ATP6D		8250920	Standard	NM_004691		Approved	ATP6DV, VATX, VPATPD, P39, Vma6	uc002ete.1	P61421	OTTHUMG00000137515	ENST00000290949.3:c.91G>A	16.37:g.67514899C>T	ENSP00000290949:p.Ala31Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	P12953|Q02547	Missense_Mutation	SNP	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.A31T	ENST00000290949.3	37	c.91	CCDS10838.1	16	.	.	.	.	.	.	.	.	.	.	C	16.52	3.146143	0.57044	.	.	ENSG00000159720	ENST00000290949;ENST00000540149	T;T	0.31510	1.49;1.49	5.91	1.5	0.22942	.	0.228607	0.44097	D	0.000481	T	0.14570	0.0352	N	0.21617	0.685	0.50171	D	0.999859	B;B	0.19200	0.034;0.0	B;B	0.18561	0.022;0.002	T	0.07908	-1.0748	10	0.15066	T	0.55	-5.7319	3.6601	0.08236	0.2301:0.5214:0.1124:0.1361	.	31;31	F5GYQ1;P61421	.;VA0D1_HUMAN	T	31	ENSP00000290949:A31T;ENSP00000441282:A31T	ENSP00000290949:A31T	A	-	1	0	ATP6V0D1	66072400	0.980000	0.34600	1.000000	0.80357	0.995000	0.86356	1.246000	0.32803	0.823000	0.34589	0.655000	0.94253	GCC	ATP6V0D1	-	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu		0.642	ATP6V0D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D1	HGNC	protein_coding	OTTHUMT00000268835.1	C	NM_004691		67514899	-1	no_errors	ENST00000290949	ensembl	human	known	70_37	missense	SNP	1.000	T
AWAT1	158833	genome.wustl.edu	37	X	69460048	69460048	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chrX:69460048C>T	ENST00000374521.3	+	7	936	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	299					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GGACAAATACCATGCACTTTA	0.478																																																	0													109.0	89.0	96.0					X																	69460048		2203	4300	6503	SO:0001583	missense	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.895C>T	X.37:g.69460048C>T	ENSP00000363645:p.His299Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JT21|Q6IEE4	Missense_Mutation	SNP	pfam_DAGAT	p.H299Y	ENST00000374521.3	37	c.895	CCDS35321.1	X	.	.	.	.	.	.	.	.	.	.	C	15.59	2.878162	0.51801	.	.	ENSG00000204195	ENST00000374521	T	0.26518	1.73	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.65903	0.2736	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78856	-0.2039	10	0.87932	D	0	-19.1279	16.1359	0.81487	0.0:1.0:0.0:0.0	.	299	Q58HT5	AWAT1_HUMAN	Y	299	ENSP00000363645:H299Y	ENSP00000363645:H299Y	H	+	1	0	AWAT1	69376773	1.000000	0.71417	0.980000	0.43619	0.069000	0.16628	7.142000	0.77339	2.375000	0.81037	0.544000	0.68410	CAT	AWAT1	-	pfam_DAGAT		0.478	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69460048	+1	no_errors	ENST00000374521	ensembl	human	known	70_37	missense	SNP	1.000	T
C14orf39	317761	genome.wustl.edu	37	14	60933701	60933701	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr14:60933701G>A	ENST00000321731.3	-	10	988	c.829C>T	c.(829-831)Ctt>Ttt	p.L277F		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	277					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCATAAGGAAGAAATAATTGA	0.279																																																	0													71.0	70.0	70.0					14																	60933701		2199	4289	6488	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.829C>T	14.37:g.60933701G>A	ENSP00000324920:p.Leu277Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AQ4	Missense_Mutation	SNP	NULL	p.L277F	ENST00000321731.3	37	c.829	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	g	18.62	3.664060	0.67700	.	.	ENSG00000179008	ENST00000321731	T	0.37058	1.22	5.29	4.37	0.52481	.	0.367497	0.22432	N	0.060136	T	0.51719	0.1691	M	0.62723	1.935	0.34827	D	0.739323	D	0.69078	0.997	D	0.64410	0.925	T	0.62435	-0.6855	10	0.37606	T	0.19	-3.5403	10.9436	0.47287	0.0:0.0:0.8133:0.1867	.	277	Q8N1H7	S6OS1_HUMAN	F	277	ENSP00000324920:L277F	ENSP00000324920:L277F	L	-	1	0	C14orf39	60003454	1.000000	0.71417	0.978000	0.43139	0.881000	0.50899	1.898000	0.39809	1.412000	0.46977	0.580000	0.79431	CTT	C14orf39	-	NULL		0.279	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	G	NM_174978		60933701	-1	no_errors	ENST00000321731	ensembl	human	known	70_37	missense	SNP	1.000	A
CBX4	8535	genome.wustl.edu	37	17	77808441	77808441	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:77808441C>T	ENST00000269397.4	-	5	1177	c.1000G>A	c.(1000-1002)Ggg>Agg	p.G334R		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	334	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCGCTAACCCCGGACACCTCC	0.672											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													24.0	24.0	24.0					17																	77808441		2203	4300	6503	SO:0001583	missense	8535			AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1000G>A	17.37:g.77808441C>T	ENSP00000269397:p.Gly334Arg	Somatic	1178	WXS	Illumina HiSeq	Phase_IV	B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.G334R	ENST00000269397.4	37	c.1000	CCDS32758.1	17	.	.	.	.	.	.	.	.	.	.	c	5.611	0.297396	0.10622	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.15	0.991	0.19813	.	27.643900	0.00357	U	0.000031	T	0.16854	0.0405	N	0.03608	-0.345	0.20403	N	0.999902	B	0.11235	0.004	B	0.04013	0.001	T	0.16660	-1.0395	9	0.17832	T	0.49	-8.4562	4.5456	0.12079	0.1703:0.6314:0.0:0.1983	.	334	O00257	CBX4_HUMAN	R	334	.	ENSP00000269397:G334R	G	-	1	0	CBX4	75423036	0.003000	0.15002	0.013000	0.15412	0.368000	0.29767	0.682000	0.25335	0.520000	0.28426	0.306000	0.20318	GGG	CBX4	-	NULL		0.672	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	HGNC	protein_coding	OTTHUMT00000318007.1	C	NM_003655		77808441	-1	no_errors	ENST00000269397	ensembl	human	known	70_37	missense	SNP	0.004	T
CCDC148	130940	genome.wustl.edu	37	2	159170296	159170296	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:159170296T>C	ENST00000283233.5	-	8	1188	c.875A>G	c.(874-876)tAt>tGt	p.Y292C	CCDC148_ENST00000409187.1_Missense_Mutation_p.Y301C|CCDC148_ENST00000536771.1_Missense_Mutation_p.Y206C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	292										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGAGGAAAATATCTTTGTAA	0.378																																																	0													110.0	111.0	111.0					2																	159170296		2203	4300	6503	SO:0001583	missense	130940				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.875A>G	2.37:g.159170296T>C	ENSP00000283233:p.Tyr292Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	NULL	p.Y292C	ENST00000283233.5	37	c.875	CCDS33304.1	2	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618527	0.28801	.	.	ENSG00000153237	ENST00000283233;ENST00000375617;ENST00000409187;ENST00000536771	T;T;T	0.31510	1.94;1.94;1.49	5.25	2.81	0.32909	.	.	.	.	.	T	0.39410	0.1077	L	0.35288	1.05	0.28868	N	0.895142	D;D;D;B;B	0.89917	1.0;1.0;1.0;0.003;0.001	D;D;D;B;B	0.73380	0.98;0.98;0.98;0.005;0.003	T	0.14448	-1.0472	9	0.38643	T	0.18	-1.2543	8.4684	0.32971	0.0:0.1691:0.0:0.8309	.	206;140;140;301;292	F5H839;C9JR76;Q8NFR7-2;B8ZZV3;Q8NFR7	.;.;.;.;CC148_HUMAN	C	292;140;301;206	ENSP00000283233:Y292C;ENSP00000386674:Y301C;ENSP00000443740:Y206C	ENSP00000283233:Y292C	Y	-	2	0	CCDC148	158878542	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.803000	0.27083	0.841000	0.35020	0.460000	0.39030	TAT	CCDC148	-	NULL		0.378	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148	HGNC	protein_coding	OTTHUMT00000333270.1	T	NM_138803		159170296	-1	no_errors	ENST00000283233	ensembl	human	known	70_37	missense	SNP	1.000	C
CD3EAP	10849	genome.wustl.edu	37	19	45912703	45912703	+	Missense_Mutation	SNP	G	G	A	rs372336084		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:45912703G>A	ENST00000309424.3	+	3	1965	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.E495K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	493					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GTCTGGGGAGGAGGCTCCCAC	0.592																																																	0													23.0	25.0	24.0					19																	45912703		2190	4295	6485	SO:0001583	missense	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1477G>A	19.37:g.45912703G>A	ENSP00000310966:p.Glu493Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol1_su_RPA34	p.E495K	ENST00000309424.3	37	c.1483	CCDS12661.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343435	0.41498	.	.	ENSG00000117877	ENST00000309424	T	0.11712	2.75	4.5	-1.35	0.09114	.	0.642419	0.11882	N	0.520436	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	B;B	0.25169	0.119;0.072	B;B	0.26416	0.069;0.031	T	0.39683	-0.9602	10	0.36615	T	0.2	.	5.0785	0.14644	0.2247:0.3105:0.4648:0.0	.	495;493	O15446-2;O15446	.;RPA34_HUMAN	K	493	ENSP00000310966:E493K	ENSP00000310966:E493K	E	+	1	0	CD3EAP	50604543	0.001000	0.12720	0.067000	0.19924	0.318000	0.28184	0.426000	0.21363	-0.012000	0.14223	0.561000	0.74099	GAG	CD3EAP	-	NULL		0.592	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD3EAP	HGNC	protein_coding	OTTHUMT00000459538.1	G	NM_012099		45912703	+1	no_errors	ENST00000589804	ensembl	human	known	70_37	missense	SNP	0.000	A
CDH11	1009	genome.wustl.edu	37	16	65022100	65022100	+	Missense_Mutation	SNP	G	G	A	rs373083222		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:65022100G>A	ENST00000268603.4	-	7	1574	c.959C>T	c.(958-960)aCg>aTg	p.T320M	CDH11_ENST00000566827.1_Missense_Mutation_p.T194M|CDH11_ENST00000394156.3_Missense_Mutation_p.T320M	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T320M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTCATAGTCCGTTGTGATTTC	0.438			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	1	Substitution - Missense(1)	central_nervous_system(1)						G	MET/THR	0,4406		0,0,2203	369.0	309.0	330.0		959	5.7	1.0	16		330	1,8599	1.2+/-3.3	0,1,4299	no	missense	CDH11	NM_001797.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	320/797	65022100	1,13005	2203	4300	6503	SO:0001583	missense	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.959C>T	16.37:g.65022100G>A	ENSP00000268603:p.Thr320Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T320M	ENST00000268603.4	37	c.959	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474482	0.84640	0.0	1.16E-4	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01725	4.67;4.67	5.65	5.65	0.86999	Cadherin (4);Cadherin-like (1);	0.094460	0.64402	D	0.000001	T	0.17662	0.0424	H	0.95402	3.665	0.45076	D	0.998098	D;D	0.69078	0.997;0.997	P;D	0.66847	0.862;0.947	T	0.04767	-1.0928	10	0.87932	D	0	.	18.7081	0.91646	0.0:0.0:1.0:0.0	.	320;320	P55287-2;P55287	.;CAD11_HUMAN	M	320;320;303	ENSP00000268603:T320M;ENSP00000377711:T320M	ENSP00000268603:T320M	T	-	2	0	CDH11	63579601	1.000000	0.71417	0.985000	0.45067	0.986000	0.74619	7.695000	0.84257	2.665000	0.90641	0.650000	0.86243	ACG	CDH11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.438	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		65022100	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	missense	SNP	0.997	A
CHRNG	1146	genome.wustl.edu	37	2	233406222	233406222	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:233406222C>A	ENST00000389494.3	+	5	510	c.489C>A	c.(487-489)aaC>aaA	p.N163K	CHRNG_ENST00000389492.3_Intron	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	163					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	ACTGGCAGAACTGCTCCCTTA	0.582																																																	0													192.0	167.0	176.0					2																	233406222		2203	4300	6503	SO:0001583	missense	1146			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.489C>A	2.37:g.233406222C>A	ENSP00000374145:p.Asn163Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.N163K	ENST00000389494.3	37	c.489	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284082	0.80803	.	.	ENSG00000196811	ENST00000389494;ENST00000541596	T	0.79845	-1.31	4.75	4.75	0.60458	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	L	0.60904	1.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.87836	0.2648	10	0.87932	D	0	.	12.2448	0.54563	0.0:0.9173:0.0:0.0826	.	163	P07510	ACHG_HUMAN	K	163	ENSP00000374145:N163K	ENSP00000374145:N163K	N	+	3	2	CHRNG	233114466	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.343000	0.52167	2.180000	0.69256	0.462000	0.41574	AAC	CHRNG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel		0.582	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	C	NM_005199		233406222	+1	no_errors	ENST00000389494	ensembl	human	known	70_37	missense	SNP	1.000	A
CLCN6	1185	genome.wustl.edu	37	1	11897157	11897157	+	Silent	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:11897157C>T	ENST00000346436.6	+	19	2134	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.I672I|CLCN6_ENST00000376496.3_Silent_p.I694I	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	694					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ATGAGCACATCGCCTCTGAGG	0.632																																																	0													56.0	53.0	54.0					1																	11897157		2203	4300	6503	SO:0001819	synonymous_variant	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2082C>T	1.37:g.11897157C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.I694	ENST00000346436.6	37	c.2082	CCDS138.1	1																																																																																			CLCN6	-	NULL		0.632	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	C	NM_001286		11897157	+1	no_errors	ENST00000346436	ensembl	human	known	70_37	silent	SNP	0.002	T
CREB3L4	148327	genome.wustl.edu	37	1	153941905	153941905	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:153941905G>A	ENST00000368607.3	+	4	783	c.517G>A	c.(517-519)Gta>Ata	p.V173I	CREB3L4_ENST00000368603.1_Missense_Mutation_p.V173I|CREB3L4_ENST00000468845.1_3'UTR|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000405694.3_Missense_Mutation_p.V26I|CREB3L4_ENST00000368601.1_Missense_Mutation_p.V173I|CREB3L4_ENST00000368600.3_Missense_Mutation_p.V153I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.V173I|SLC39A1_ENST00000310483.6_5'Flank	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	173					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGCAGGCACCGTAGCCCCAGT	0.532																																																	0													104.0	89.0	94.0					1																	153941905		2203	4300	6503	SO:0001583	missense	148327			AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.517G>A	1.37:g.153941905G>A	ENSP00000357596:p.Val173Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.V173I	ENST00000368607.3	37	c.517	CCDS1056.1	1	.	.	.	.	.	.	.	.	.	.	G	2.769	-0.256203	0.05829	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.76578	-1.03;-0.03;-0.03;-0.03;0.94;-0.03;-0.03;0.9	4.68	-1.15	0.09709	.	1.298410	0.05553	N	0.567930	T	0.44286	0.1286	L	0.41236	1.265	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12837	-1.0532	10	0.33141	T	0.24	.	4.3232	0.11027	0.278:0.0:0.4594:0.2626	.	153;173	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	I	26;153;173;173;173;173;153;173	ENSP00000385104:V26I;ENSP00000391847:V153I;ENSP00000357596:V173I;ENSP00000271889:V173I;ENSP00000357590:V173I;ENSP00000357592:V173I;ENSP00000357589:V153I;ENSP00000402308:V173I	ENSP00000271889:V173I	V	+	1	0	CREB3L4	152208529	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.587000	0.05780	-0.757000	0.04697	-2.619000	0.00157	GTA	CREB3L4	-	NULL		0.532	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CREB3L4	HGNC	protein_coding	OTTHUMT00000090291.1	G	NM_130898		153941905	+1	no_errors	ENST00000271889	ensembl	human	known	70_37	missense	SNP	0.000	A
CSF2RB	1439	genome.wustl.edu	37	22	37334311	37334311	+	Missense_Mutation	SNP	G	G	A	rs146598061		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr22:37334311G>A	ENST00000403662.3	+	14	2683	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	CSF2RB_ENST00000262825.5_Missense_Mutation_p.D827N|CSF2RB_ENST00000536485.1_Missense_Mutation_p.D768N|CSF2RB_ENST00000406230.1_Missense_Mutation_p.D827N			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	821					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCAAGTGGGCGACTATTGCTT	0.647																																																	0								G	ASN/ASP	0,4406		0,0,2203	84.0	97.0	93.0		2461	5.6	0.4	22	dbSNP_134	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	CSF2RB	NM_000395.2	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	821/898	37334311	1,13005	2203	4300	6503	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2461G>A	22.37:g.37334311G>A	ENSP00000384053:p.Asp821Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3	p.D827N	ENST00000403662.3	37	c.2479	CCDS13936.1	22	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664645	0.88251	0.0	1.16E-4	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000536485	D;D;D;D	0.96774	-3.59;-4.11;-4.11;-4.12	5.63	5.63	0.86233	.	0.000000	0.49916	D	0.000121	D	0.97436	0.9161	M	0.66939	2.045	0.35893	D	0.829842	D;D	0.76494	0.999;0.997	D;P	0.65684	0.937;0.866	D	0.99947	1.1482	10	0.62326	D	0.03	-21.879	15.1979	0.73108	0.0:0.0:1.0:0.0	.	827;821	P32927-2;P32927	.;IL3RB_HUMAN	N	821;821;827;827;768	ENSP00000384053:D821N;ENSP00000262825:D827N;ENSP00000385271:D827N;ENSP00000440003:D768N	ENSP00000262825:D827N	D	+	1	0	CSF2RB	35664257	0.999000	0.42202	0.370000	0.25965	0.850000	0.48378	4.700000	0.61803	2.649000	0.89929	0.650000	0.86243	GAC	CSF2RB	-	pirsf_IL3_rcpt_beta		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	G	NM_000395		37334311	+1	no_errors	ENST00000262825	ensembl	human	known	70_37	missense	SNP	0.888	A
CUL4B	8450	genome.wustl.edu	37	X	119694468	119694468	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chrX:119694468G>T	ENST00000404115.3	-	3	481	c.80C>A	c.(79-81)cCc>cAc	p.P27H	CUL4B_ENST00000336592.6_Missense_Mutation_p.P14H|CUL4B_ENST00000371322.5_Missense_Mutation_p.P9H	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	27	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGGGACTGGGGGAAGAAAA	0.512																																																	0													32.0	31.0	31.0					X																	119694468		2202	4298	6500	SO:0001583	missense	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.80C>A	X.37:g.119694468G>T	ENSP00000384109:p.Pro27His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.P27H	ENST00000404115.3	37	c.80	CCDS35379.1	X	.	.	.	.	.	.	.	.	.	.	g	15.54	2.862851	0.51482	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.75154	-0.82;-0.89;-0.91	5.3	5.3	0.74995	.	1.611910	0.03390	N	0.201793	T	0.81945	0.4930	L	0.43152	1.355	0.58432	D	0.999996	P;P	0.52842	0.926;0.956	P;P	0.54759	0.58;0.76	T	0.67550	-0.5642	9	.	.	.	-2.2092	17.2401	0.87010	0.0:0.0:1.0:0.0	.	27;9	Q13620;Q13620-1	CUL4B_HUMAN;.	H	9;14;27	ENSP00000360373:P9H;ENSP00000338919:P14H;ENSP00000384109:P27H	.	P	-	2	0	CUL4B	119578496	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.411000	0.80078	2.369000	0.80426	0.519000	0.50382	CCC	CUL4B	-	NULL		0.512	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	CUL4B	HGNC	protein_coding	OTTHUMT00000058103.1	G	NM_003588		119694468	-1	no_errors	ENST00000404115	ensembl	human	known	70_37	missense	SNP	1.000	T
DCP1B	196513	genome.wustl.edu	37	12	2062323	2062324	+	In_Frame_Ins	INS	-	-	TGC	rs149912567|rs71057810|rs111543431|rs373461041		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:2062323_2062324insTGC	ENST00000280665.6	-	7	861_862	c.782_783insGCA	c.(781-783)caa>caGCAa	p.261_261Q>QQ	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_In_Frame_Ins_p.135_135Q>QQ|DCP1B_ENST00000397173.4_In_Frame_Ins_p.159_159Q>QQ	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	261	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q261_E262insQ(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GAAGCTTCTCTtgctgctgctg	0.554																																																	2	Insertion - In frame(2)	breast(1)|kidney(1)																																								SO:0001652	inframe_insertion	196513			AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.780_782dupGCA	12.37:g.2062330_2062332dupTGC	ENSP00000280665:p.Gln261dup	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	In_Frame_Ins	INS	pfam_DCP1	p.262in_frame_insQ	ENST00000280665.6	37	c.783_782	CCDS31727.1	12																																																																																			DCP1B	-	NULL		0.554	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCP1B	HGNC	protein_coding	OTTHUMT00000398244.1	-	NM_152640		2062324	-1	no_errors	ENST00000280665	ensembl	human	known	70_37	in_frame_ins	INS	0.742:0.836	TGC
DENND2C	163259	genome.wustl.edu	37	1	115168296	115168296	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:115168296C>T	ENST00000393274.1	-	4	935	c.310G>A	c.(310-312)Gat>Aat	p.D104N	DENND2C_ENST00000393277.1_Missense_Mutation_p.D104N|DENND2C_ENST00000393276.3_Missense_Mutation_p.D104N|DENND2C_ENST00000481894.1_5'Flank	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	104					positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTGTGTATCGTCATATTCA	0.353																																																	0													124.0	122.0	123.0					1																	115168296		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.310G>A	1.37:g.115168296C>T	ENSP00000376955:p.Asp104Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D104N	ENST00000393274.1	37	c.310	CCDS58018.1	1	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885309	0.02511	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.08807	3.69;3.67;3.05	4.88	1.94	0.25998	.	2.079960	0.01633	N	0.023662	T	0.01189	0.0039	N	0.12182	0.205	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.001	T	0.40251	-0.9573	10	0.12766	T	0.61	.	3.0561	0.06184	0.1302:0.4601:0.254:0.1556	.	104;104	Q68D51;Q68D51-3	DEN2C_HUMAN;.	N	104	ENSP00000376957:D104N;ENSP00000376955:D104N;ENSP00000376958:D104N	ENSP00000358553:D104N	D	-	1	0	DENND2C	114969819	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	0.076000	0.14712	0.712000	0.32039	0.650000	0.86243	GAT	DENND2C	-	NULL		0.353	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	C	NM_198459		115168296	-1	no_errors	ENST00000393274	ensembl	human	known	70_37	missense	SNP	0.000	T
DNAH8	1769	genome.wustl.edu	37	6	38702259	38702259	+	5'UTR	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:38702259G>A	ENST00000359357.3	+	0	223				DNAH8_ENST00000441566.1_5'Flank|DNAH8_ENST00000449981.2_Missense_Mutation_p.R207Q			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATGTGGTCGAACTATTGCT	0.358																																																	0													92.0	95.0	94.0					6																	38702259		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-32G>A	6.37:g.38702259G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R207Q	ENST00000359357.3	37	c.620		6	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281726	0.59758	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T	0.25085	1.82	5.49	5.49	0.81192	.	0.170167	0.38326	N	0.001739	T	0.07863	0.0197	N	0.19112	0.55	0.80722	D	1	P	0.52463	0.953	B	0.38194	0.267	T	0.14254	-1.0479	10	0.12766	T	0.61	.	17.5376	0.87837	0.0:0.0:1.0:0.0	.	207	Q8IU65	.	Q	207;195;195	ENSP00000333363:R195Q	ENSP00000333363:R195Q	R	+	2	0	DNAH8	38810237	1.000000	0.71417	0.997000	0.53966	0.773000	0.43773	7.271000	0.78506	2.570000	0.86706	0.585000	0.79938	CGA	DNAH8	-	NULL		0.358	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38702259	+1	no_errors	ENST00000449981	ensembl	human	known	70_37	missense	SNP	0.998	A
FA2H	79152	genome.wustl.edu	37	16	74752969	74752969	+	Missense_Mutation	SNP	G	G	A	rs387907039		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:74752969G>A	ENST00000219368.3	-	5	772	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	FA2H_ENST00000544337.1_Missense_Mutation_p.R22C	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	235			R -> C (in SPG35; significantly reduced enzymatic function). {ECO:0000269|PubMed:20104589}.		cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AACAGGAAGCGGTGGATGAGG	0.607																																																	0													89.0	79.0	82.0					16																	74752969		2198	4300	6498	SO:0001583	missense	79152			BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.703C>T	16.37:g.74752969G>A	ENSP00000219368:p.Arg235Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5,prints_Cyt_B5	p.R235C	ENST00000219368.3	37	c.703	CCDS10911.1	16	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525891	0.85600	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.88277	-2.36;-2.36	5.36	4.4	0.53042	Fatty acid hydroxylase (1);	0.048157	0.85682	D	0.000000	D	0.95683	0.8596	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.95562	0.8630	10	0.87932	D	0	-10.2475	8.5166	0.33250	0.0769:0.0:0.7698:0.1533	.	235	Q7L5A8	FA2H_HUMAN	C	235;22	ENSP00000219368:R235C;ENSP00000442334:R22C	ENSP00000219368:R235C	R	-	1	0	FA2H	73310470	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.477000	0.73591	2.509000	0.84616	0.561000	0.74099	CGC	FA2H	-	pfam_Fatty_acid_hydroxylase,pirsf_Ino-phos-ceramide-B_Hydrxlase		0.607	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FA2H	HGNC	protein_coding	OTTHUMT00000269015.2	G	NM_024306		74752969	-1	no_errors	ENST00000219368	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM107B	83641	genome.wustl.edu	37	10	14816480	14816480	+	Silent	SNP	G	G	A	rs574031893		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr10:14816480G>A	ENST00000181796.2	-	1	416	c.183C>T	c.(181-183)ggC>ggT	p.G61G		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGGCTGTCTGCCTGCTTTGG	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18741	0.001		0.0	False		,,,				2504	0.0																0													113.0	101.0	105.0					10																	14816480		2203	4300	6503	SO:0001819	synonymous_variant	83641			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.183C>T	10.37:g.14816480G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Silent	SNP	pfam_DUF1151	p.G61	ENST00000181796.2	37	c.183	CCDS7102.1	10																																																																																			FAM107B	-	NULL		0.547	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	G	NM_031453		14816480	-1	no_errors	ENST00000181796	ensembl	human	known	70_37	silent	SNP	0.000	A
FAM214A	56204	genome.wustl.edu	37	15	52877015	52877015	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr15:52877015C>T	ENST00000261844.7	-	12	3156	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	RP11-23N2.4_ENST00000566344.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.V1009M|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	1002																	CTTCTCTTCACTTCTTGTTTA	0.358																																																	0													152.0	150.0	151.0					15																	52877015		1860	4098	5958	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.3004G>A	15.37:g.52877015C>T	ENSP00000261844:p.Val1002Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	NULL	p.V1002M	ENST00000261844.7	37	c.3004	CCDS45263.1	15	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894113	0.17613	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000546305	T;T	0.28895	1.59;1.59	5.09	1.18	0.20946	.	0.412476	0.30840	N	0.008769	T	0.09113	0.0225	N	0.03608	-0.345	0.22446	N	0.999098	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36286	-0.9754	10	0.02654	T	1	.	5.5008	0.16827	0.1279:0.1445:0.0:0.7275	.	1009;1002	F5H8G0;Q32MH5	.;K1370_HUMAN	M	1002;1002;1009	ENSP00000261844:V1002M;ENSP00000443598:V1009M	ENSP00000261844:V1002M	V	-	1	0	KIAA1370	50664307	0.741000	0.28217	0.723000	0.30687	0.945000	0.59286	-0.114000	0.10757	0.036000	0.15547	-0.670000	0.03821	GTG	FAM214A	-	NULL		0.358	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM214A	HGNC	protein_coding	OTTHUMT00000419914.1	C	NM_019600		52877015	-1	no_errors	ENST00000261844	ensembl	human	known	70_37	missense	SNP	0.979	T
GNAI2	2771	genome.wustl.edu	37	3	50293634	50293634	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr3:50293634G>A	ENST00000313601.6	+	5	859	c.475G>A	c.(475-477)Gac>Aac	p.D159N	GNAI2_ENST00000266027.5_Missense_Mutation_p.D143N|GNAI2_ENST00000536647.1_Missense_Mutation_p.D78N|GNAI2_ENST00000422163.1_Missense_Mutation_p.D143N|GNAI2_ENST00000440628.1_Missense_Mutation_p.D107N|GNAI2_ENST00000451956.1_Missense_Mutation_p.D122N|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	159					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTACCTGAACGACCTGGAGCG	0.617																																																	0													74.0	54.0	61.0					3																	50293634		2202	4300	6502	SO:0001583	missense	2771			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.475G>A	3.37:g.50293634G>A	ENSP00000312999:p.Asp159Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_GproteinA	p.D159N	ENST00000313601.6	37	c.475	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027926	0.75390	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	4.99	4.99	0.66335	G protein alpha subunit, helical insertion (2);	0.046951	0.85682	D	0.000000	T	0.82010	0.4944	L	0.35341	1.055	0.80722	D	1	B;B;B;B	0.09022	0.002;0.001;0.002;0.002	B;B;B;B	0.11329	0.006;0.002;0.006;0.002	T	0.76997	-0.2751	10	0.42905	T	0.14	.	16.5716	0.84613	0.0:0.0:1.0:0.0	.	122;159;143;143	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	N	143;159;78;159;107;122;143	ENSP00000406871:D143N;ENSP00000312999:D159N;ENSP00000444360:D78N;ENSP00000395736:D107N;ENSP00000406369:D122N;ENSP00000266027:D143N	ENSP00000266027:D143N	D	+	1	0	GNAI2	50268638	1.000000	0.71417	0.975000	0.42487	0.837000	0.47467	7.937000	0.87672	2.710000	0.92621	0.655000	0.94253	GAC	GNAI2	-	pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su		0.617	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	HGNC	protein_coding	OTTHUMT00000346688.1	G	NM_002070		50293634	+1	no_errors	ENST00000313601	ensembl	human	known	70_37	missense	SNP	1.000	A
HLA-E	3133	genome.wustl.edu	37	6	30459060	30459060	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:30459060G>A	ENST00000376630.4	+	4	822	c.757G>A	c.(757-759)Gag>Aag	p.E253K		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	253	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GGAGCTCGTGGAGACCAGGCC	0.637																																																	0													107.0	98.0	101.0					6																	30459060		1511	2708	4219	SO:0001583	missense	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.757G>A	6.37:g.30459060G>A	ENSP00000365817:p.Glu253Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E253K	ENST00000376630.4	37	c.757	CCDS34379.1	6	.	.	.	.	.	.	.	.	.	.	.	13.75	2.330947	0.41297	.	.	ENSG00000204592	ENST00000376630	T	0.03004	4.08	1.67	1.67	0.24075	.	0.499317	0.14630	U	0.307851	T	0.10809	0.0264	M	0.93062	3.375	0.19945	N	0.999941	D;D	0.61697	0.99;0.99	D;D	0.75020	0.985;0.985	T	0.03840	-1.0999	10	0.87932	D	0	.	6.7735	0.23607	0.0:0.0:1.0:0.0	.	294;253	E7ENN9;Q6DU44	.;.	K	253	ENSP00000365817:E253K	ENSP00000365817:E253K	E	+	1	0	HLA-E	30567039	0.271000	0.24162	0.998000	0.56505	0.109000	0.19521	1.427000	0.34881	1.235000	0.43724	0.462000	0.41574	GAG	HLA-E	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like		0.637	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-E	HGNC	protein_coding	OTTHUMT00000076282.2	G	NM_005516		30459060	+1	no_errors	ENST00000376630	ensembl	human	known	70_37	missense	SNP	0.999	A
GPR111	222611	genome.wustl.edu	37	6	47646846	47646846	+	Silent	SNP	T	T	C			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:47646846T>C	ENST00000296862.1	+	4	447	c.447T>C	c.(445-447)acT>acC	p.T149T	GPR111_ENST00000398742.2_Silent_p.T81T|GPR111_ENST00000507065.1_Silent_p.T81T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	149					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTGCCAGACTCTTAATGCCC	0.458																																																	0													122.0	116.0	118.0					6																	47646846		1984	4167	6151	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.447T>C	6.37:g.47646846T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T149	ENST00000296862.1	37	c.447		6																																																																																			GPR111	-	NULL		0.458	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	T	NM_153839		47646846	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.195	C
INTS1	26173	genome.wustl.edu	37	7	1517492	1517492	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr7:1517492C>T	ENST00000404767.3	-	34	4796	c.4711G>A	c.(4711-4713)Gcc>Acc	p.A1571T	INTS1_ENST00000389470.4_Missense_Mutation_p.A1770T	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1571					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AACGGGGAGGCAGCATCCGCA	0.657																																																	0													33.0	41.0	38.0					7																	1517492		2120	4222	6342	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.4711G>A	7.37:g.1517492C>T	ENSP00000385722:p.Ala1571Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.A1770T	ENST00000404767.3	37	c.5308	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	2.018	-0.425555	0.04701	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.44881	0.94;0.91	4.46	-2.19	0.07015	.	0.450854	0.25726	N	0.028718	T	0.11623	0.0283	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.26087	-1.0113	10	0.13853	T	0.58	.	4.7613	0.13110	0.2609:0.2112:0.0:0.5278	.	1571	Q8N201	INT1_HUMAN	T	1571;1770	ENSP00000385722:A1571T;ENSP00000374121:A1770T	ENSP00000374121:A1770T	A	-	1	0	INTS1	1484018	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.212000	0.09319	-0.249000	0.09569	-0.258000	0.10820	GCC	INTS1	-	NULL		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	C			1517492	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	missense	SNP	0.000	T
IQCF2	389123	genome.wustl.edu	37	3	51897275	51897275	+	Silent	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr3:51897275C>T	ENST00000333127.3	+	3	413	c.384C>T	c.(382-384)atC>atT	p.I128I	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	128	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCATCTACATCATCCAGGGCC	0.577																																																	0													131.0	124.0	126.0					3																	51897275		2203	4300	6503	SO:0001819	synonymous_variant	389123			AK128883	CCDS2835.1	3p21.31	2008-02-05			ENSG00000184345	ENSG00000184345			31815	protein-coding gene	gene with protein product							Standard	NM_203424		Approved		uc003dbt.1	Q8IXL9	OTTHUMG00000156914	ENST00000333127.3:c.384C>T	3.37:g.51897275C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.I128	ENST00000333127.3	37	c.384	CCDS2835.1	3																																																																																			IQCF2	-	NULL		0.577	IQCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF2	HGNC	protein_coding	OTTHUMT00000346594.1	C	NM_203424		51897275	+1	no_errors	ENST00000333127	ensembl	human	known	70_37	silent	SNP	0.677	T
IRX6	79190	genome.wustl.edu	37	16	55362886	55362886	+	Silent	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr16:55362886G>A	ENST00000290552.7	+	5	2328	c.996G>A	c.(994-996)gcG>gcA	p.A332A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	332					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCCTCTCGGCGGAGACAGGCA	0.632																																																	0													43.0	44.0	44.0					16																	55362886		2198	4298	6496	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.996G>A	16.37:g.55362886G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN06|Q7Z2K0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.A332	ENST00000290552.7	37	c.996	CCDS32449.1	16																																																																																			IRX6	-	NULL		0.632	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	G	NM_024335		55362886	+1	no_errors	ENST00000290552	ensembl	human	known	70_37	silent	SNP	0.000	A
KIAA1109	84162	genome.wustl.edu	37	4	123227038	123227038	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr4:123227038G>A	ENST00000264501.4	+	57	10052	c.9679G>A	c.(9679-9681)Gag>Aag	p.E3227K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3227K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3227K			Q2LD37	K1109_HUMAN	KIAA1109	3227					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTAGGTTTATGAGGAAGCTGG	0.289																																																	0													41.0	40.0	40.0					4																	123227038		1781	4056	5837	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.9679G>A	4.37:g.123227038G>A	ENSP00000264501:p.Glu3227Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.E3227K	ENST00000264501.4	37	c.9679	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337752	0.81911	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.36340	1.26;1.26;1.26	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.35480	0.0933	L	0.54323	1.7	0.49915	D	0.999837	B;P	0.38020	0.202;0.615	B;B	0.29267	0.084;0.1	T	0.34900	-0.9810	10	0.72032	D	0.01	.	19.3521	0.94393	0.0:0.0:1.0:0.0	.	3227;3227	Q2LD37-6;Q2LD37	.;K1109_HUMAN	K	3227	ENSP00000264501:E3227K;ENSP00000373390:E3227K;ENSP00000389925:E3227K	ENSP00000264501:E3227K	E	+	1	0	KIAA1109	123446488	1.000000	0.71417	1.000000	0.80357	0.640000	0.38277	7.913000	0.87471	2.588000	0.87417	0.655000	0.94253	GAG	KIAA1109	-	NULL		0.289	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123227038	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF12	113220	genome.wustl.edu	37	9	116854239	116854239	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr9:116854239delG	ENST00000374118.3	-	16	1681	c.1444delC	c.(1444-1446)ctcfs	p.L482fs	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	615	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TGGTCTCTGAGGGCCTCCAGT	0.672																																																	0													33.0	35.0	34.0					9																	116854239		2203	4300	6503	SO:0001589	frameshift_variant	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1444delC	9.37:g.116854239delG	ENSP00000363232:p.Leu482fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBE0	Frame_Shift_Del	DEL	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L615fs	ENST00000374118.3	37	c.1843	CCDS6801.1	9																																																																																			KIF12	-	NULL		0.672	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116854239	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T
KRT31	3881	genome.wustl.edu	37	17	39553231	39553231	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:39553231G>A	ENST00000251645.2	-	2	417	c.365C>T	c.(364-366)tCt>tTt	p.S122F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	122	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGCATTCTCAGACTTGGTACA	0.428																																																	0													96.0	88.0	91.0					17																	39553231		2203	4300	6503	SO:0001583	missense	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.365C>T	17.37:g.39553231G>A	ENSP00000251645:p.Ser122Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UE12	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S122F	ENST00000251645.2	37	c.365	CCDS11391.1	17	.	.	.	.	.	.	.	.	.	.	g	16.90	3.250996	0.59212	.	.	ENSG00000094796	ENST00000251645	D	0.89552	-2.53	5.26	5.26	0.73747	Filament (1);	0.232574	0.30695	N	0.009075	D	0.89784	0.6815	M	0.79805	2.47	0.09310	N	1	P	0.35527	0.507	B	0.42625	0.393	D	0.85359	0.1106	10	0.72032	D	0.01	.	7.6863	0.28542	0.1791:0.0:0.8209:0.0	.	122	Q15323	K1H1_HUMAN	F	122	ENSP00000251645:S122F	ENSP00000251645:S122F	S	-	2	0	KRT31	36806757	0.000000	0.05858	0.993000	0.49108	0.930000	0.56654	0.137000	0.15995	2.458000	0.83093	0.655000	0.94253	TCT	KRT31	-	pfam_F		0.428	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	G	NM_002277		39553231	-1	no_errors	ENST00000251645	ensembl	human	known	70_37	missense	SNP	0.005	A
LGR6	59352	genome.wustl.edu	37	1	202279443	202279443	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:202279443A>G	ENST00000367278.3	+	16	1614	c.1525A>G	c.(1525-1527)Aaa>Gaa	p.K509E	LGR6_ENST00000255432.7_Missense_Mutation_p.K457E|LGR6_ENST00000439764.2_Missense_Mutation_p.K370E	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	509					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGAGTCTTCAAAAAGGCCCCT	0.577																																																	0													77.0	72.0	74.0					1																	202279443		2203	4300	6503	SO:0001583	missense	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1525A>G	1.37:g.202279443A>G	ENSP00000356247:p.Lys509Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.K509E	ENST00000367278.3	37	c.1525	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	A	15.15	2.746720	0.49257	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.60548	0.18;0.58;0.58	5.71	4.56	0.56223	.	0.268039	0.42420	D	0.000710	T	0.63604	0.2525	M	0.63843	1.955	0.28919	N	0.892226	D;P;P	0.53745	0.962;0.868;0.82	P;B;P	0.54060	0.741;0.281;0.576	T	0.59273	-0.7485	10	0.24483	T	0.36	.	11.6728	0.51413	0.8517:0.1483:0.0:0.0	.	370;457;509	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	E	509;457;370	ENSP00000356247:K509E;ENSP00000255432:K457E;ENSP00000387869:K370E	ENSP00000255432:K457E	K	+	1	0	LGR6	200546066	1.000000	0.71417	0.312000	0.25196	0.099000	0.18886	6.555000	0.73928	0.955000	0.37878	0.533000	0.62120	AAA	LGR6	-	NULL		0.577	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	A	NM_021636		202279443	+1	no_errors	ENST00000367278	ensembl	human	known	70_37	missense	SNP	0.993	G
ZNF100	163227	genome.wustl.edu	37	19	21934426	21934426	+	Intron	SNP	C	C	G			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:21934426C>G	ENST00000358296.6	-	3	295				RP11-420K14.6_ENST00000596710.1_RNA|ZNF100_ENST00000596452.1_5'Flank|ZNF100_ENST00000305570.6_5'Flank|AC092364.2_ENST00000579465.1_RNA	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						GCCAGATCCTCAAGGACATTA	0.433																																																	0																																										SO:0001627	intron_variant	641367			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.97-6557G>C	19.37:g.21934426C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7M4M0	RNA	SNP	-	NULL	ENST00000358296.6	37	NULL	CCDS42538.1	19																																																																																			RP11-420K14.6	-	-		0.433	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC641367	Clone_based_vega_gene	protein_coding	OTTHUMT00000464087.1	C	NM_173531		21934426	+1	no_errors	ENST00000596710	ensembl	human	known	70_37	rna	SNP	1.000	G
GOLGA2P9	440518	genome.wustl.edu	37	19	22785608	22785608	+	RNA	SNP	C	C	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:22785608C>A	ENST00000599738.1	+	0	0				CTC-457E21.3_ENST00000600260.1_RNA|RN7SL860P_ENST00000473738.2_RNA|AC011467.1_ENST00000408863.1_RNA																							ACTGCCCTCTCTCAGCCAGGG	0.667																																																	0																																												440518																															19.37:g.22785608C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599738.1	37	NULL		19																																																																																			CTC-457E21.3	-	-		0.667	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	LOC440518	Clone_based_vega_gene	processed_transcript	OTTHUMT00000464575.1	C			22785608	+1	no_errors	ENST00000600260	ensembl	human	known	70_37	rna	SNP	1.000	A
MAP3K4	4216	genome.wustl.edu	37	6	161519351	161519353	+	In_Frame_Del	DEL	CTG	CTG	-	rs3050254|rs113801384|rs573460061|rs5881391		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:161519351_161519353delCTG	ENST00000392142.4	+	17	3714_3716	c.3566_3568delCTG	c.(3565-3570)cctgct>cct	p.A1199del	MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_In_Frame_Del_p.A1195del	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1199	Poly-Ala.			Missing (in Ref. 1; AAB68804). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A1199delA(4)|p.A1198delA(4)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATGGCAGCCctgctgctgctgc	0.581																																																	8	Deletion - In frame(8)	breast(8)																																								SO:0001651	inframe_deletion	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.3566_3568delCTG	6.37:g.161519360_161519362delCTG	ENSP00000375986:p.Ala1199del	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	In_Frame_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A1193in_frame_del	ENST00000392142.4	37	c.3566_3568	CCDS34565.1	6																																																																																			MAP3K4	-	NULL		0.581	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K4	HGNC	protein_coding	OTTHUMT00000042988.3	CTG			161519353	+1	no_errors	ENST00000392142	ensembl	human	known	70_37	in_frame_del	DEL	0.857:0.937:0.950	-
MBD5	55777	genome.wustl.edu	37	2	149247488	149247488	+	Silent	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:149247488G>A	ENST00000407073.1	+	12	4585	c.3588G>A	c.(3586-3588)caG>caA	p.Q1196Q	MBD5_ENST00000404807.1_Silent_p.Q1429Q	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1196					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCAAAAAACAGTGGGACGGGG	0.483																																																	0													98.0	102.0	101.0					2																	149247488		2203	4300	6503	SO:0001819	synonymous_variant	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3588G>A	2.37:g.149247488G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Silent	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.Q1196	ENST00000407073.1	37	c.3588	CCDS33302.1	2																																																																																			MBD5	-	NULL		0.483	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	G			149247488	+1	no_errors	ENST00000407073	ensembl	human	known	70_37	silent	SNP	1.000	A
MGAM	8972	genome.wustl.edu	37	7	141802440	141802440	+	Silent	SNP	G	G	C			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr7:141802440G>C	ENST00000549489.2	+	46	5381	c.5286G>C	c.(5284-5286)ggG>ggC	p.G1762G	MGAM_ENST00000475668.2_Silent_p.G2658G	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1762	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACCTATGGGAAAGGACTCT	0.418																																																	0													158.0	144.0	148.0					7																	141802440		1889	4122	6011	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5286G>C	7.37:g.141802440G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.G1762	ENST00000549489.2	37	c.5286	CCDS47727.1	7																																																																																			MGAM	-	NULL		0.418	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141802440	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	silent	SNP	0.012	C
MGEA5	10724	genome.wustl.edu	37	10	103557892	103557892	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr10:103557892C>A	ENST00000361464.3	-	10	2224	c.1829G>T	c.(1828-1830)cGa>cTa	p.R610L	MGEA5_ENST00000357797.5_Missense_Mutation_p.R557L|MGEA5_ENST00000370094.3_Missense_Mutation_p.R610L|MGEA5_ENST00000439817.1_Missense_Mutation_p.R557L|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	610					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTTGGCTGCTCGTGACCGCCA	0.388																																																	0													101.0	92.0	95.0					10																	103557892		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1829G>T	10.37:g.103557892C>A	ENSP00000354850:p.Arg610Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase	p.R610L	ENST00000361464.3	37	c.1829	CCDS7520.1	10	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835498	0.91117	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.50001	0.96;0.93;0.89;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.74023	0.918;0.975;0.982;0.96	T	0.75007	-0.3469	10	0.87932	D	0	-7.8837	19.9575	0.97228	0.0:1.0:0.0:0.0	.	557;557;610;610	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	L	557;610;557;610	ENSP00000409973:R557L;ENSP00000354850:R610L;ENSP00000350445:R557L;ENSP00000359112:R610L	ENSP00000350445:R557L	R	-	2	0	MGEA5	103547882	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.015000	0.70791	2.721000	0.93114	0.655000	0.94253	CGA	MGEA5	-	NULL		0.388	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	C	NM_012215		103557892	-1	no_errors	ENST00000361464	ensembl	human	known	70_37	missense	SNP	1.000	A
MIS18BP1	55320	genome.wustl.edu	37	14	45706865	45706865	+	Frame_Shift_Del	DEL	T	T	-			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr14:45706865delT	ENST00000310806.4	-	5	1661	c.1203delA	c.(1201-1203)gtafs	p.V401fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	401					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTCCTTCTACACATATAG	0.279																																																	0													62.0	63.0	62.0					14																	45706865		2202	4287	6489	SO:0001589	frameshift_variant	55320			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.1203delA	14.37:g.45706865delT	ENSP00000309790:p.Val401fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E402fs	ENST00000310806.4	37	c.1203	CCDS9684.1	14																																																																																			MIS18BP1	-	pfam_SANTA		0.279	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	T			45706865	-1	no_errors	ENST00000310806	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-
MUC5B	727897	genome.wustl.edu	37	11	1264717	1264717	+	Missense_Mutation	SNP	C	C	T	rs200947535		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr11:1264717C>T	ENST00000529681.1	+	31	6665	c.6607C>T	c.(6607-6609)Ccc>Tcc	p.P2203S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2206S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2203	7 X Cys-rich subdomain repeats.|Thr-rich.			P -> S (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2206S(1)|p.P2203S(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGATCCCTGCCCCCCAGCAG	0.657																																																	2	Substitution - Missense(2)	lung(2)											58.0	73.0	68.0					11																	1264717		2022	4154	6176	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6607C>T	11.37:g.1264717C>T	ENSP00000436812:p.Pro2203Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P2206S	ENST00000529681.1	37	c.6616	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	4.466	0.086254	0.08583	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21734	1.99;2.18	0.757	-0.293	0.12835	.	.	.	.	.	T	0.15696	0.0378	L	0.48642	1.525	0.09310	N	1	B;B	0.27594	0.182;0.182	B;B	0.18263	0.021;0.021	T	0.22521	-1.0214	9	0.87932	D	0	.	5.1648	0.15079	0.0:0.7567:0.0:0.2433	.	2841;2206	A7Y9J9;E9PBJ0	.;.	S	2203;2206;2204;2218	ENSP00000436812:P2203S;ENSP00000415793:P2206S	ENSP00000343037:P2204S	P	+	1	0	MUC5B	1221293	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.365000	0.02587	-0.114000	0.11936	-0.679000	0.03777	CCC	MUC5B	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1264717	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.005	T
NCAM2	4685	genome.wustl.edu	37	21	22710836	22710836	+	Silent	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr21:22710836G>A	ENST00000400546.1	+	8	1275	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	NCAM2_ENST00000535285.1_Silent_p.T367T|NCAM2_ENST00000284894.7_Silent_p.T200T	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	342	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGGCTTCACGTTCACTGAAG	0.388																																																	0													58.0	55.0	56.0					21																	22710836		1920	4118	6038	SO:0001819	synonymous_variant	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1026G>A	21.37:g.22710836G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.T342	ENST00000400546.1	37	c.1026	CCDS42910.1	21																																																																																			NCAM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.388	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAM2	HGNC	protein_coding	OTTHUMT00000170915.1	G	NM_004540		22710836	+1	no_errors	ENST00000400546	ensembl	human	known	70_37	silent	SNP	0.055	A
NLE1	54475	genome.wustl.edu	37	17	33467052	33467052	+	Missense_Mutation	SNP	C	C	T	rs144542845	byFrequency	TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:33467052C>T	ENST00000442241.4	-	3	235	c.196G>A	c.(196-198)Gat>Aat	p.D66N	NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.D66N	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	66					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ATCTCAGCATCGTGGACAAAG	0.552													C|||	5	0.000998403	0.0	0.0	5008	,	,		17840	0.0		0.0	False		,,,				2504	0.0051																0								C	,ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	75.0	64.0	68.0		,196	5.2	0.2	17	dbSNP_134	68	4,8596	3.7+/-12.6	0,4,4296	yes	utr-5,missense	NLE1	NM_001014445.1,NM_018096.3	,23	0,7,6496	TT,TC,CC		0.0465,0.0681,0.0538	,benign	,66/486	33467052	7,12999	2203	4300	6503	SO:0001583	missense	54475				CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.196G>A	17.37:g.33467052C>T	ENSP00000413572:p.Asp66Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60868|Q59GJ8|Q9BU54	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_NLE,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep,prints_Gprotein_B	p.D66N	ENST00000442241.4	37	c.196	CCDS11291.1	17	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568506	0.65651	6.81E-4	4.65E-4	ENSG00000073536	ENST00000442241;ENST00000537697	T	0.58358	0.34	5.22	5.22	0.72569	NLE (1);	0.045134	0.85682	D	0.000000	T	0.47857	0.1468	L	0.49126	1.545	0.47994	D	0.999568	B	0.22211	0.066	B	0.17979	0.02	T	0.35301	-0.9794	10	0.27082	T	0.32	-12.3427	16.3212	0.82951	0.0:1.0:0.0:0.0	.	66	Q9NVX2	NLE1_HUMAN	N	66	ENSP00000413572:D66N	ENSP00000413572:D66N	D	-	1	0	NLE1	30491165	0.998000	0.40836	0.151000	0.22473	0.938000	0.57974	5.537000	0.67186	2.732000	0.93576	0.650000	0.86243	GAT	NLE1	-	pfam_NLE		0.552	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLE1	HGNC	protein_coding	OTTHUMT00000256441.2	C	NM_018096		33467052	-1	no_errors	ENST00000442241	ensembl	human	known	70_37	missense	SNP	0.047	T
NTN4	59277	genome.wustl.edu	37	12	96063914	96063914	+	Nonsense_Mutation	SNP	C	C	A	rs375475179		TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:96063914C>A	ENST00000343702.4	-	8	1967	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	NTN4_ENST00000538383.1_Nonsense_Mutation_p.E470*|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000553059.1_Intron|NTN4_ENST00000344911.4_Nonsense_Mutation_p.E470*	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	507	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCCTTACATTCGCATTTACCT	0.338																																																	0													99.0	88.0	92.0					12																	96063914		2203	4300	6503	SO:0001587	stop_gained	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1519G>T	12.37:g.96063914C>A	ENSP00000340998:p.Glu507*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Nonsense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain	p.E507*	ENST00000343702.4	37	c.1519	CCDS9054.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.052462	0.97236	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383	.	.	.	5.98	5.98	0.97165	.	0.233723	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	19.4402	0.94817	0.0:1.0:0.0:0.0	.	.	.	.	X	507;470;470	.	ENSP00000340998:E507X	E	-	1	0	NTN4	94588045	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	4.822000	0.62686	2.838000	0.97847	0.591000	0.81541	GAA	NTN4	-	superfamily_TIMP-like_OB-fold,pfscan_Netrin_domain		0.338	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTN4	HGNC	protein_coding	OTTHUMT00000408372.1	C	NM_021229		96063914	-1	no_errors	ENST00000343702	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NUCB1	4924	genome.wustl.edu	37	19	49424486	49424486	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:49424486G>C	ENST00000405315.4	+	11	1412	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	NUCB1_ENST00000407032.1_Missense_Mutation_p.E360Q|NUCB1_ENST00000263273.5_Missense_Mutation_p.E360Q|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_3'UTR	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	360						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCGGGAGGCAGAGCTGAATGC	0.662																																																	0													25.0	26.0	26.0					19																	49424486		2203	4299	6502	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1078G>C	19.37:g.49424486G>C	ENSP00000385923:p.Glu360Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E360Q	ENST00000405315.4	37	c.1078	CCDS12740.1	19	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252990	0.80135	.	.	ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000263273	T;T;T	0.20069	2.1;2.1;2.1	4.11	3.04	0.35103	.	0.101723	0.64402	N	0.000003	T	0.33000	0.0848	L	0.55990	1.75	0.40694	D	0.982423	D;D	0.76494	0.999;0.999	P;P	0.58721	0.844;0.844	T	0.06127	-1.0844	10	0.34782	T	0.22	.	12.1382	0.53982	0.0:0.1754:0.8245:0.0	.	360;360	Q02818;Q53GX6	NUCB1_HUMAN;.	Q	360	ENSP00000385923:E360Q;ENSP00000385211:E360Q;ENSP00000263273:E360Q	ENSP00000263273:E360Q	E	+	1	0	NUCB1	54116298	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	5.231000	0.65327	1.016000	0.39470	0.491000	0.48974	GAG	NUCB1	-	NULL		0.662	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2	G	NM_006184		49424486	+1	no_errors	ENST00000263273	ensembl	human	known	70_37	missense	SNP	0.998	C
PARD3	56288	genome.wustl.edu	37	10	34739377	34739377	+	Splice_Site	SNP	C	C	G			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr10:34739377C>G	ENST00000374789.3	-	5	908		c.e5-1		PARD3_ENST00000374794.3_Intron|PARD3_ENST00000346874.4_Splice_Site|PARD3_ENST00000374773.1_Splice_Site|PARD3_ENST00000374776.1_Splice_Site|PARD3_ENST00000340077.5_Splice_Site|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000350537.4_Splice_Site|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000545693.1_Splice_Site|PARD3_ENST00000374788.3_Splice_Site	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator						apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTTCATCTTTCTATTCAAAAA	0.398																																																	0													58.0	59.0	58.0					10																	34739377		2203	4300	6503	SO:0001630	splice_region_variant	56288			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.583-1G>C	10.37:g.34739377C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Splice_Site	SNP	-	e5-1	ENST00000374789.3	37	c.583-1	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287765	0.80803	.	.	ENSG00000148498	ENST00000545693;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000350537;ENST00000374776;ENST00000340077;ENST00000374773	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8969	0.96969	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARD3	34779383	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	2.559000	0.45888	2.799000	0.96334	0.650000	0.86243	.	PARD3	-	-		0.398	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	C	NM_019619	Intron	34739377	-1	no_errors	ENST00000374789	ensembl	human	known	70_37	splice_site	SNP	1.000	G
PAX7	5081	genome.wustl.edu	37	1	19027177	19027177	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:19027177C>T	ENST00000375375.3	+	6	1415	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	PAX7_ENST00000400661.3_Missense_Mutation_p.R271C|PAX7_ENST00000420770.2_Missense_Mutation_p.R273C	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	273					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CGCCCGTTGGCGTAAGCAGGC	0.652			T	FOXO1A	alveolar rhabdomyosarcoma																																			Dom	yes		1	1p36.2-p36.12	5081	paired box gene 7		M	0													49.0	54.0	52.0					1																	19027177		2203	4300	6503	SO:0001583	missense	5081			X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.817C>T	1.37:g.19027177C>T	ENSP00000364524:p.Arg273Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeodomain,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.R273C	ENST00000375375.3	37	c.817	CCDS186.1	1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900529	0.92035	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.97665	-4.48;-4.48;-4.48	4.82	4.82	0.62117	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	H	0.99900	4.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.983;0.984;0.989	D	0.98032	1.0377	10	0.87932	D	0	.	16.6357	0.85059	0.0:1.0:0.0:0.0	.	273;271;273	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	C	273;273;271	ENSP00000364524:R273C;ENSP00000403389:R273C;ENSP00000383502:R271C	ENSP00000364524:R273C	R	+	1	0	PAX7	18899764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.480000	0.53172	2.475000	0.83589	0.561000	0.74099	CGT	PAX7	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.652	PAX7-001	KNOWN	basic|CCDS	protein_coding	PAX7	HGNC	protein_coding	OTTHUMT00000006928.1	C	NM_002584		19027177	+1	no_errors	ENST00000375375	ensembl	human	known	70_37	missense	SNP	1.000	T
PIAS2	9063	genome.wustl.edu	37	18	44407992	44407992	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr18:44407992C>T	ENST00000585916.1	-	11	1437	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	PIAS2_ENST00000545673.1_Missense_Mutation_p.E190K|PIAS2_ENST00000324794.7_Missense_Mutation_p.E480K	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	480					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TCTTCCTCTTCGTCAGAAGAG	0.408																																																	0													146.0	133.0	138.0					18																	44407992		2203	4300	6503	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1438G>A	18.37:g.44407992C>T	ENSP00000465676:p.Glu480Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.E480K	ENST00000585916.1	37	c.1438	CCDS32824.1	18	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379837	0.82682	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.56444	0.46;1.0	5.49	5.49	0.81192	.	0.227975	0.42964	D	0.000621	T	0.53578	0.1805	L	0.59436	1.845	0.80722	D	1	P;B;P;P	0.48764	0.915;0.04;0.683;0.555	B;B;B;B	0.40506	0.331;0.016;0.057;0.057	T	0.61926	-0.6962	10	0.87932	D	0	-15.1406	19.7445	0.96247	0.0:1.0:0.0:0.0	.	190;480;480;480	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	K	480;480;190;480	ENSP00000443238:E190K;ENSP00000317163:E480K	ENSP00000262161:E480K	E	-	1	0	PIAS2	42661990	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.163000	0.77524	2.739000	0.93911	0.655000	0.94253	GAA	PIAS2	-	NULL		0.408	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	C	NM_004671		44407992	-1	no_errors	ENST00000585916	ensembl	human	known	70_37	missense	SNP	1.000	T
PRICKLE3	4007	genome.wustl.edu	37	X	49040116	49040119	+	Intron	DEL	GTGT	GTGT	-			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	GTGT	GTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chrX:49040116_49040119delGTGT	ENST00000376317.3	-	3	407				PRICKLE3_ENST00000540849.1_Intron|PRICKLE3_ENST00000536904.1_Frame_Shift_Del_p.HT59fs|PRICKLE3_ENST00000538114.1_Frame_Shift_Del_p.HT127fs|PRICKLE3_ENST00000376310.3_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)								zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCCCACCTGAGTGTGTGTGTGTGT	0.608																																																	0																																										SO:0001627	intron_variant	4007			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.312+67ACAC>-	X.37:g.49040124_49040127delGTGT		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8F2|O76007|Q53XR5	Frame_Shift_Del	DEL	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.H59fs	ENST00000376317.3	37	c.179_176	CCDS14320.1	X																																																																																			PRICKLE3	-	NULL		0.608	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	GTGT	NM_006150		49040119	-1	no_errors	ENST00000536904	ensembl	human	known	70_37	frame_shift_del	DEL	0.149:0.119:0.101:0.083	-
PTGES3	10728	genome.wustl.edu	37	12	57081748	57081748	+	Intron	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:57081748C>T	ENST00000262033.6	-	1	303				PTGES3_ENST00000448157.2_Intron|PTGES3_ENST00000436399.2_Intron|PTGES3_ENST00000456859.2_Intron|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000414274.3_Intron	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)						arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082)			large_intestine(1)|lung(1)	2						CGGCCTCACTCGGCGACCTTC	0.716																																																	0													14.0	19.0	17.0					12																	57081748		2181	4283	6464	SO:0001627	intron_variant	10728			BC003005	CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1	12q13.13	2012-03-14			ENSG00000110958	ENSG00000110958			16049	protein-coding gene	gene with protein product		607061				8114727, 12077419	Standard	XR_245889		Approved	p23, TEBP, cPGES	uc001slu.4	Q15185	OTTHUMG00000170217	ENST00000262033.6:c.2+33G>A	12.37:g.57081748C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70	RNA	SNP	-	NULL	ENST00000262033.6	37	NULL	CCDS31836.1	12																																																																																			PTGES3	-	-		0.716	PTGES3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3	HGNC	protein_coding	OTTHUMT00000408054.1	C	NM_006601		57081748	-1	no_errors	ENST00000537473	ensembl	human	known	70_37	rna	SNP	0.000	T
RAB3IP	117177	genome.wustl.edu	37	12	70178523	70178523	+	Missense_Mutation	SNP	A	A	C			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:70178523A>C	ENST00000247833.7	+	4	910	c.534A>C	c.(532-534)gaA>gaC	p.E178D	RAB3IP_ENST00000483530.2_Missense_Mutation_p.E178D|RAB3IP_ENST00000553099.1_5'UTR|RAB3IP_ENST00000362025.5_Missense_Mutation_p.E194D|RAB3IP_ENST00000551641.1_5'UTR|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.E178D|RAB3IP_ENST00000550536.1_Missense_Mutation_p.E194D					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAGATGAAGAATGTGAGAGGC	0.348																																																	0													109.0	105.0	106.0					12																	70178523		2203	4300	6503	SO:0001583	missense	117177				CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.534A>C	12.37:g.70178523A>C	ENSP00000247833:p.Glu178Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Sec2p	p.E194D	ENST00000247833.7	37	c.582	CCDS8995.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.3|22.3	4.273256|4.273256	0.80580|0.80580	.|.	.|.	ENSG00000127328|ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000550536;ENST00000362025;ENST00000547055|ENST00000550647	T;T;T;T;T;T|.	0.47528|.	0.84;0.96;0.84;0.84;0.84;0.84|.	5.87|5.87	2.46|2.46	0.29980|0.29980	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69628|0.69628	0.3132|0.3132	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.999;0.992;0.999;0.998|.	D;D;D;D|.	0.79784|.	0.993;0.989;0.993;0.99|.	T|T	0.65397|0.65397	-0.6178|-0.6178	10|5	0.59425|.	D|.	0.04|.	.|.	8.5603|8.5603	0.33507|0.33507	0.8034:0.0:0.1966:0.0|0.8034:0.0:0.1966:0.0	.|.	194;194;178;178|.	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7|.	.;RAB3I_HUMAN;.;.|.	D|L	178;178;178;194;194;55|68	ENSP00000247833:E178D;ENSP00000368092:E178D;ENSP00000419216:E178D;ENSP00000447300:E194D;ENSP00000355381:E194D;ENSP00000448688:E55D|.	ENSP00000247833:E178D|.	E|M	+|+	3|1	2|0	RAB3IP|RAB3IP	68464790|68464790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.466000|4.466000	0.60148|0.60148	0.213000|0.213000	0.20722|0.20722	0.482000|0.482000	0.46254|0.46254	GAA|ATG	RAB3IP	-	pfam_Sec2p		0.348	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3IP	HGNC	protein_coding	OTTHUMT00000280671.2	A	NM_022456		70178523	+1	no_errors	ENST00000550536	ensembl	human	known	70_37	missense	SNP	1.000	C
RAI1	10743	genome.wustl.edu	37	17	17697094	17697096	+	In_Frame_Del	DEL	CAG	CAG	-	rs113303801|rs398124422|rs371983878|rs571229335|rs587780431	byFrequency	TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:17697094_17697096delCAG	ENST00000353383.1	+	3	1301_1303	c.832_834delCAG	c.(832-834)cagdel	p.Q291del	RAI1_ENST00000261641.6_In_Frame_Del_p.Q291del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	291	Gln-rich.|Poly-Gln.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGCTATGACcagcagcagcagc	0.64																																																	0																																										SO:0001651	inframe_deletion	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.832_834delCAG	17.37:g.17697103_17697105delCAG	ENSP00000323074:p.Gln291del	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	smart_Znf_PHD	p.Q281in_frame_del	ENST00000353383.1	37	c.832_834	CCDS11188.1	17																																																																																			RAI1	-	NULL		0.640	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	CAG	NM_030665		17697096	+1	no_errors	ENST00000353383	ensembl	human	known	70_37	in_frame_del	DEL	0.831:0.157:0.050	-
RASSF1	11186	genome.wustl.edu	37	3	50374657	50374657	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr3:50374657C>T	ENST00000327761.3	-	1	238	c.94G>A	c.(94-96)Gag>Aag	p.E32K	RASSF1_ENST00000395126.3_Intron|RASSF1_ENST00000488024.1_5'UTR|RASSF1_ENST00000359365.4_Intron|RASSF1_ENST00000357043.2_Intron	NM_170713.2	NP_733831.1			Ras association (RalGDS/AF-6) domain family member 1											lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAGTACTGCTCGAGCTCCGAG	0.687																																																	0													45.0	44.0	44.0					3																	50374657		2203	4300	6503	SO:0001583	missense	11186			AF132675	CCDS2820.1, CCDS2821.1, CCDS2822.1, CCDS43096.1	3p21.3	2008-02-22	2008-02-22		ENSG00000068028	ENSG00000068028			9882	protein-coding gene	gene with protein product		605082					Standard	NM_170713		Approved	NORE2A, REH3P21, RDA32, 123F2	uc003dad.1	Q9NS23	OTTHUMG00000149958	ENST00000327761.3:c.94G>A	3.37:g.50374657C>T	ENSP00000333327:p.Glu32Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E32K	ENST00000327761.3	37	c.94	CCDS2821.1	3	.	.	.	.	.	.	.	.	.	.	C	31	5.066241	0.93898	.	.	ENSG00000068028	ENST00000327761	T	0.12039	2.72	4.51	4.51	0.55191	.	.	.	.	.	T	0.15869	0.0382	M	0.66939	2.045	0.80722	D	1	P	0.39748	0.686	B	0.33454	0.164	T	0.06881	-1.0802	9	0.30854	T	0.27	.	15.9509	0.79835	0.0:1.0:0.0:0.0	.	32	Q5TZT2	.	K	32	ENSP00000333327:E32K	ENSP00000333327:E32K	E	-	1	0	RASSF1	50349661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.386000	0.66238	2.335000	0.79485	0.549000	0.68633	GAG	RASSF1	-	NULL		0.687	RASSF1-007	KNOWN	basic|CCDS	protein_coding	RASSF1	HGNC	protein_coding	OTTHUMT00000314309.1	C			50374657	-1	no_errors	ENST00000327761	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC8A3	6547	genome.wustl.edu	37	14	70512940	70512940	+	Silent	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr14:70512940G>A	ENST00000381269.2	-	8	3261	c.2508C>T	c.(2506-2508)atC>atT	p.I836I	SLC8A3_ENST00000528359.1_Silent_p.I834I|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000216568.7_Silent_p.I207I|SLC8A3_ENST00000357887.3_Silent_p.I834I|SLC8A3_ENST00000356921.2_Silent_p.I830I|SLC8A3_ENST00000534137.1_Silent_p.I833I|SLC8A3_ENST00000394330.2_Silent_p.I193I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	836					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGCCAGGCCGATGCCCAGGA	0.617											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47.0	42.0	43.0					14																	70512940		2203	4300	6503	SO:0001819	synonymous_variant	6547			AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2508C>T	14.37:g.70512940G>A		Somatic	1122	WXS	Illumina HiSeq	Phase_IV	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.I836	ENST00000381269.2	37	c.2508	CCDS35498.1	14																																																																																			SLC8A3	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.617	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	G			70512940	-1	no_errors	ENST00000381269	ensembl	human	known	70_37	silent	SNP	0.817	A
SLFN5	162394	genome.wustl.edu	37	17	33591389	33591390	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr17:33591389_33591390insA	ENST00000299977.4	+	4	1474_1475	c.1326_1327insA	c.(1327-1329)ctafs	p.L443fs	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	443					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTGATGCTCTTCTAATTTCCCA	0.45																																																	0																																										SO:0001589	frameshift_variant	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		Exception_encountered	17.37:g.33591389_33591390insA	ENSP00000299977:p.Leu443fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AF2|Q8WU54|Q96A82	Frame_Shift_Ins	INS	pfam_ATPase_AAA-4,pfam_DUF2075	p.L442fs	ENST00000299977.4	37	c.1326_1327	CCDS32619.1	17																																																																																			SLFN5	-	NULL		0.450	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	-	NM_144975		33591390	+1	no_errors	ENST00000299977	ensembl	human	known	70_37	frame_shift_ins	INS	0.903:0.855	A
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																																	4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	G	NM_003194		170871052	+1	no_errors	ENST00000230354	ensembl	human	known	70_37	silent	SNP	0.994	A
TESK1	7016	genome.wustl.edu	37	9	35608000	35608000	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr9:35608000C>T	ENST00000336395.5	+	7	1037	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTACCTACCACGCACTGAGGT	0.512																																																	0													101.0	97.0	98.0					9																	35608000		2203	4300	6503	SO:0001583	missense	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.787C>T	9.37:g.35608000C>T	ENSP00000338127:p.Arg263Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R263C	ENST00000336395.5	37	c.787	CCDS6580.1	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012765	0.75161	.	.	ENSG00000107140	ENST00000336395	T	0.34859	1.34	5.29	5.29	0.74685	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42053	D	0.000774	T	0.63861	0.2547	M	0.84156	2.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69351	-0.5168	10	0.87932	D	0	-10.269	15.6615	0.77190	0.0:1.0:0.0:0.0	.	181;263	B4DQQ3;Q15569	.;TESK1_HUMAN	C	263	ENSP00000338127:R263C	ENSP00000338127:R263C	R	+	1	0	TESK1	35598000	1.000000	0.71417	0.986000	0.45419	0.845000	0.48019	3.389000	0.52516	2.465000	0.83290	0.561000	0.74099	CGC	TESK1	-	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		0.512	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK1	HGNC	protein_coding	OTTHUMT00000052314.1	C	NM_006285		35608000	+1	no_errors	ENST00000336395	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM163	81615	genome.wustl.edu	37	2	135223716	135223716	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:135223716C>A	ENST00000281924.6	-	6	700	c.636G>T	c.(634-636)aaG>aaT	p.K212N		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	212						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		TGGTCAGAACCTTCCCCAGCA	0.507																																																	0													94.0	74.0	81.0					2																	135223716		2203	4300	6503	SO:0001583	missense	81615				CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.636G>T	2.37:g.135223716C>A	ENSP00000281924:p.Lys212Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	NULL	p.K212N	ENST00000281924.6	37	c.636	CCDS2172.1	2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638327	0.47153	.	.	ENSG00000152128	ENST00000281924	T	0.66460	-0.21	6.07	3.33	0.38152	.	0.045573	0.85682	D	0.000000	T	0.53626	0.1808	L	0.46157	1.445	0.44447	D	0.997371	B	0.17268	0.021	B	0.15484	0.013	T	0.52924	-0.8510	10	0.59425	D	0.04	.	3.9751	0.09470	0.1559:0.5394:0.0:0.3047	.	212	Q8TC26	TM163_HUMAN	N	212	ENSP00000281924:K212N	ENSP00000281924:K212N	K	-	3	2	TMEM163	134940186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.449000	0.35123	0.911000	0.36747	0.655000	0.94253	AAG	TMEM163	-	NULL		0.507	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM163	HGNC	protein_coding	OTTHUMT00000254631.2	C	NM_030923		135223716	-1	no_errors	ENST00000281924	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM58	25893	genome.wustl.edu	37	1	248039396	248039396	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:248039396G>T	ENST00000366481.3	+	6	1114	c.1066G>T	c.(1066-1068)Gca>Tca	p.A356S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	356	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGAGAAGGAGCAGAGTGGGG	0.572																																																	0													109.0	100.0	103.0					1																	248039396		2203	4300	6503	SO:0001583	missense	25893			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1066G>T	1.37:g.248039396G>T	ENSP00000355437:p.Ala356Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6B0H9	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,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.A356S	ENST00000366481.3	37	c.1066	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	G	2.226	-0.377217	0.05000	.	.	ENSG00000162722	ENST00000366481	T	0.68765	-0.35	4.05	4.05	0.47172	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.112611	0.40302	N	0.001138	T	0.43211	0.1237	N	0.12746	0.255	0.09310	N	0.999997	B	0.17268	0.021	B	0.24006	0.05	T	0.16571	-1.0398	10	0.15066	T	0.55	.	7.8767	0.29597	0.1079:0.0:0.8921:0.0	.	356	Q8NG06	TRI58_HUMAN	S	356	ENSP00000355437:A356S	ENSP00000355437:A356S	A	+	1	0	TRIM58	246106019	0.009000	0.17119	0.020000	0.16555	0.015000	0.08874	1.144000	0.31565	2.559000	0.86315	0.650000	0.86243	GCA	TRIM58	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.572	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	G	NM_015431		248039396	+1	no_errors	ENST00000366481	ensembl	human	known	70_37	missense	SNP	0.001	T
TRPC3	7222	genome.wustl.edu	37	4	122828641	122828641	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr4:122828641C>T	ENST00000379645.3	-	7	1947	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	TRPC3_ENST00000264811.5_Missense_Mutation_p.R552Q|TRPC3_ENST00000513531.1_Missense_Mutation_p.R497Q	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	540					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTACGCAATCCGAGAGAAGCT	0.448																																																	0													105.0	103.0	104.0					4																	122828641		2203	4299	6502	SO:0001583	missense	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1874G>A	4.37:g.122828641C>T	ENSP00000368966:p.Arg625Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.R625Q	ENST00000379645.3	37	c.1874	CCDS47130.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.587083	0.96578	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	D;D;D	0.99607	-6.27;-6.27;-6.27	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99743	0.9898	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.998;1.0	D	0.97326	0.9947	10	0.87932	D	0	-26.7117	18.9622	0.92681	0.0:1.0:0.0:0.0	.	540;497;625	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	Q	552;625;497	ENSP00000264811:R552Q;ENSP00000368966:R625Q;ENSP00000426899:R497Q	ENSP00000264811:R552Q	R	-	2	0	TRPC3	123048091	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	7.729000	0.84864	2.465000	0.83290	0.655000	0.94253	CGG	TRPC3	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel		0.448	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	C	NM_003305		122828641	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	missense	SNP	1.000	T
TSC1	7248	genome.wustl.edu	37	9	135801105	135801105	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr9:135801105C>T	ENST00000298552.3	-	5	453	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.E78K|TSC1_ENST00000403810.1_Missense_Mutation_p.E78K|TSC1_ENST00000545250.1_Intron	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	78					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CCCACATATTCGTTAATCCTG	0.443			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	0													88.0	81.0	83.0					9																	135801105		2203	4300	6503	SO:0001583	missense	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.232G>A	9.37:g.135801105C>T	ENSP00000298552:p.Glu78Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.E78K	ENST00000298552.3	37	c.232	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.325270	0.95708	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000403810	D;D;D	0.88664	-2.41;-2.41;-2.41	5.35	5.35	0.76521	.	0.091398	0.85682	D	0.000000	D	0.92551	0.7634	M	0.76328	2.33	0.80722	D	1	P;D;D;P	0.60160	0.949;0.971;0.987;0.812	B;P;P;B	0.54431	0.433;0.589;0.752;0.407	D	0.92966	0.6393	10	0.56958	D	0.05	-11.9226	18.0569	0.89366	0.0:1.0:0.0:0.0	.	78;78;78;78	Q86WV8;Q59IT9;Q32NF0;Q92574	.;.;.;TSC1_HUMAN	K	78	ENSP00000298552:E78K;ENSP00000394524:E78K;ENSP00000386093:E78K	ENSP00000298552:E78K	E	-	1	0	TSC1	134790926	1.000000	0.71417	0.962000	0.40283	0.865000	0.49528	7.625000	0.83145	2.522000	0.85027	0.655000	0.94253	GAA	TSC1	-	pfam_Hamartin,superfamily_ARM-type_fold		0.443	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	C			135801105	-1	no_errors	ENST00000298552	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179483070	179483070	+	Silent	SNP	A	A	T			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:179483070A>T	ENST00000591111.1	-	202	42416	c.42192T>A	c.(42190-42192)gtT>gtA	p.V14064V	TTN_ENST00000342992.6_Silent_p.V13137V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.V6765V|TTN_ENST00000460472.2_Silent_p.V6640V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.V15705V|TTN_ENST00000342175.6_Silent_p.V6832V|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14064	Fibronectin type-III 1. {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)			CTGTGGCCAGAACCCAGGTCT	0.458																																																	0													86.0	84.0	84.0					2																	179483070		1920	4119	6039	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42192T>A	2.37:g.179483070A>T		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	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V13137	ENST00000591111.1	37	c.39411		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179483070	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.108	T
WDTC1	23038	genome.wustl.edu	37	1	27627932	27627932	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr1:27627932T>A	ENST00000319394.3	+	13	1983	c.1448T>A	c.(1447-1449)cTc>cAc	p.L483H	WDTC1_ENST00000361771.3_Missense_Mutation_p.L482H	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	483					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		ACAGCTGCCCTCTTCTCTAAA	0.542																																																	0													47.0	45.0	46.0					1																	27627932		2203	4300	6503	SO:0001583	missense	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1448T>A	1.37:g.27627932T>A	ENSP00000317971:p.Leu483His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L483H	ENST00000319394.3	37	c.1448		1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.115845	0.77323	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	T;T	0.63580	-0.05;-0.05	5.49	5.49	0.81192	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72439	0.3460	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.64776	0.846;0.929	T	0.72653	-0.4228	10	0.45353	T	0.12	.	15.0689	0.72017	0.0:0.0:0.0:1.0	.	483;482	Q8N5D0;Q8N5D0-4	WDTC1_HUMAN;.	H	483;482	ENSP00000317971:L483H;ENSP00000355317:L482H	ENSP00000317971:L483H	L	+	2	0	WDTC1	27500519	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.209000	0.71365	0.533000	0.62120	CTC	WDTC1	-	superfamily_WD40_repeat_dom		0.542	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		T	NM_015023		27627932	+1	no_errors	ENST00000319394	ensembl	human	known	70_37	missense	SNP	1.000	A
WNK1	65125	genome.wustl.edu	37	12	978057	978057	+	Intron	SNP	A	A	G			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr12:978057A>G	ENST00000315939.6	+	9	2782				WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Silent_p.Q354Q|WNK1_ENST00000537687.1_Silent_p.Q1055Q|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.Q1140Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATTCCTCACAAATCACTTCTT	0.498																																					Colon(19;451 567 6672 12618 28860)												0													112.0	111.0	111.0					12																	978057		1862	4101	5963	SO:0001627	intron_variant	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2374A>G	12.37:g.978057A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q1140	ENST00000315939.6	37	c.3420	CCDS8506.1	12																																																																																			WNK1	-	NULL		0.498	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	A	NM_018979		978057	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	silent	SNP	0.841	G
XDH	7498	genome.wustl.edu	37	2	31605889	31605889	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr2:31605889C>A	ENST00000379416.3	-	11	1064	c.1016G>T	c.(1015-1017)gGg>gTg	p.G339V	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	339	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GACTTGCTTCCCAGCAAACCA	0.552																																					Colon(66;682 1445 30109 40147)												0													73.0	67.0	69.0					2																	31605889		2203	4300	6503	SO:0001583	missense	7498			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.1016G>T	2.37:g.31605889C>A	ENSP00000368727:p.Gly339Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.G339V	ENST00000379416.3	37	c.1016	CCDS1775.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.142472	0.94560	.	.	ENSG00000158125	ENST00000379416	T	0.26223	1.75	5.65	5.65	0.86999	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.67767	0.2928	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79334	-0.1846	10	0.87932	D	0	.	19.3258	0.94261	0.0:1.0:0.0:0.0	.	339	P47989	XDH_HUMAN	V	339	ENSP00000368727:G339V	ENSP00000368727:G339V	G	-	2	0	XDH	31459393	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.727000	0.84838	2.668000	0.90789	0.448000	0.29417	GGG	XDH	-	pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu		0.552	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	C	NM_000379		31605889	-1	no_errors	ENST00000379416	ensembl	human	known	70_37	missense	SNP	1.000	A
ZSCAN9	7746	genome.wustl.edu	37	6	28194897	28194897	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr6:28194897G>A	ENST00000252207.5	+	2	183	c.35G>A	c.(34-36)gGt>gAt	p.G12D	ZSCAN9_ENST00000527436.1_Missense_Mutation_p.G12D|ZSCAN9_ENST00000531981.1_Missense_Mutation_p.G12D|ZSCAN9_ENST00000425468.2_Missense_Mutation_p.G12D|ZSCAN9_ENST00000531979.1_Missense_Mutation_p.G12D	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	12					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)										TTATCCCTGGGTGTTCAAGTT	0.453																																																	0													57.0	55.0	56.0					6																	28194897		2203	4300	6503	SO:0001583	missense	7746			U62392	CCDS4646.1, CCDS56407.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000137185	ENSG00000137185		"""-"", ""Zinc fingers, C2H2-type"""	12984	protein-coding gene	gene with protein product		602246	"""zinc finger protein 193"""	ZNF193			Standard	NM_001199479		Approved	PRD51	uc003nkq.2	O15535	OTTHUMG00000014515	ENST00000252207.5:c.35G>A	6.37:g.28194897G>A	ENSP00000252207:p.Gly12Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1W6|E7EVQ2|Q2TTR1	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.G12D	ENST00000252207.5	37	c.35	CCDS4646.1	6	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.265894	0.00259	.	.	ENSG00000137185	ENST00000531941;ENST00000425468;ENST00000252207;ENST00000531979;ENST00000527436;ENST00000527844	T;T;T;T;T	0.05580	3.42;3.45;3.45;4.5;3.57	2.91	1.76	0.24704	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47355	-0.9124	9	0.09590	T	0.72	.	4.339	0.11101	0.8298:0.0:0.1702:0.0	.	12;12	E7EVQ2;O15535	.;ZN193_HUMAN	D	12	ENSP00000404074:G12D;ENSP00000252207:G12D;ENSP00000433402:G12D;ENSP00000433468:G12D;ENSP00000436166:G12D	ENSP00000252207:G12D	G	+	2	0	ZNF193	28302876	0.002000	0.14202	0.004000	0.12327	0.082000	0.17680	0.017000	0.13399	0.519000	0.28406	-0.302000	0.09304	GGT	ZNF193	-	NULL		0.453	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF193	HGNC	protein_coding	OTTHUMT00000040183.2	G	NM_006299		28194897	+1	no_errors	ENST00000252207	ensembl	human	known	70_37	missense	SNP	0.005	A
ZNF277	11179	genome.wustl.edu	37	7	111846857	111846857	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr7:111846857A>G	ENST00000361822.3	+	1	215	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	DOCK4_ENST00000428084.1_5'Flank|DOCK4_ENST00000476846.1_5'Flank|DOCK4_ENST00000437633.1_5'Flank|ZNF277_ENST00000450657.1_Missense_Mutation_p.Y29C|ZNF277_ENST00000421043.1_Missense_Mutation_p.Y29C	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	29					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGTGTAGGTTATGGGGGTGAG	0.612																																																	0													36.0	39.0	38.0					7																	111846857		2203	4300	6503	SO:0001583	missense	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.86A>G	7.37:g.111846857A>G	ENSP00000354501:p.Tyr29Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y29C	ENST00000361822.3	37	c.86	CCDS5755.2	7	.	.	.	.	.	.	.	.	.	.	A	12.94	2.089154	0.36855	.	.	ENSG00000198839	ENST00000361822;ENST00000421043;ENST00000425229;ENST00000450657	T;T	0.30981	1.53;1.51	5.25	1.56	0.23342	.	1.598550	0.03641	N	0.239580	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.19582	-1.0301	10	0.41790	T	0.15	0.3064	3.2303	0.06746	0.6156:0.0:0.1897:0.1947	.	29;29	Q9NRM2;G5E9M4	ZN277_HUMAN;.	C	29	ENSP00000354501:Y29C;ENSP00000402292:Y29C	ENSP00000354501:Y29C	Y	+	2	0	ZNF277	111634093	0.003000	0.15002	0.125000	0.21846	0.672000	0.39443	-0.151000	0.10175	0.112000	0.17975	0.533000	0.62120	TAT	ZNF277	-	NULL		0.612	ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF277	HGNC	protein_coding	OTTHUMT00000316843.2	A	NM_021994		111846857	+1	no_errors	ENST00000361822	ensembl	human	known	70_37	missense	SNP	0.143	G
ZNF43	7594	genome.wustl.edu	37	19	21990581	21990583	+	In_Frame_Del	DEL	TTA	TTA	-			TCGA-C5-A1ME-01A-11D-A13W-08	TCGA-C5-A1ME-10A-01D-A13W-08	TTA	TTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d61d65c7-571b-4df4-b260-91ce59d6c29c	d95c0a8b-ee27-4fc5-a963-53a9d5174c19	g.chr19:21990581_21990583delTTA	ENST00000354959.4	-	4	2425_2427	c.2256_2258delTAA	c.(2254-2259)cataag>cag	p.752_753HK>Q	ZNF43_ENST00000595461.1_In_Frame_Del_p.746_747HK>Q|ZNF43_ENST00000598381.1_In_Frame_Del_p.746_747HK>Q|ZNF43_ENST00000594012.1_In_Frame_Del_p.746_747HK>Q	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	752					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATGAATTCTCTTATGTGTATTAA	0.335																																																	0																																										SO:0001651	inframe_deletion	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2256_2258delTAA	19.37:g.21990581_21990583delTTA	ENSP00000347045:p.His752_Lys753delinsGln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	In_Frame_Del	DEL	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.HK752in_frame_delQ	ENST00000354959.4	37	c.2258_2256	CCDS12413.2	19																																																																																			ZNF43	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.335	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	TTA	NM_003423		21990583	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	in_frame_del	DEL	0.695:0.699:0.734	-
