#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABL1	25	genome.wustl.edu	37	9	133760373	133760373	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:133760373C>T	ENST00000318560.5	+	11	3077	c.2696C>T	c.(2695-2697)cCg>cTg	p.P899L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	899	DNA-binding. {ECO:0000250}.|Poly-Pro.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	AAACCTGCCCCGCCGCCCCCA	0.677			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0													8.0	11.0	10.0					9																	133760373		2177	4271	6448	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2696C>T	9.37:g.133760373C>T	ENSP00000323315:p.Pro899Leu		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.P918L	ENST00000318560.5	37	c.2753	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789027	0.31685	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.35789	1.29;1.29	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41520	-0.9504	10	0.35671	T	0.21	.	17.3455	0.87308	0.0:1.0:0.0:0.0	.	899;936	P00519;Q59FK4	ABL1_HUMAN;.	L	714;918;899	ENSP00000361423:P918L;ENSP00000323315:P899L	ENSP00000323315:P899L	P	+	2	0	ABL1	132750194	1.000000	0.71417	0.996000	0.52242	0.937000	0.57800	5.660000	0.68018	2.345000	0.79718	0.561000	0.74099	CCG	ABL1	-	NULL		0.677	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	C	NM_007313		133760373	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	missense	SNP	0.999	T
ACVR2A	92	genome.wustl.edu	37	2	148676157	148676157	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:148676157C>T	ENST00000241416.7	+	7	1594	c.958C>T	c.(958-960)Cac>Tac	p.H320Y	ACVR2A_ENST00000404590.1_Missense_Mutation_p.H320Y|ACVR2A_ENST00000535787.1_Missense_Mutation_p.H212Y	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	320	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCATATCTCACAGGTAGAC	0.348																																																	0													42.0	44.0	43.0					2																	148676157		2203	4300	6503	SO:0001583	missense	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.958C>T	2.37:g.148676157C>T	ENSP00000241416:p.His320Tyr		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.H320Y	ENST00000241416.7	37	c.958	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876429	0.91664	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.98649	-5.05;-5.05;-5.05	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99107	1.0845	10	0.87932	D	0	.	17.8561	0.88764	0.0:1.0:0.0:0.0	.	320	P27037	AVR2A_HUMAN	Y	320;212;320	ENSP00000241416:H320Y;ENSP00000439988:H212Y;ENSP00000384338:H320Y	ENSP00000241416:H320Y	H	+	1	0	ACVR2A	148392627	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.818000	0.86416	2.652000	0.90054	0.563000	0.77884	CAC	ACVR2A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.348	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	C	NM_001616		148676157	+1	no_errors	ENST00000241416	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAM21P1	145241	genome.wustl.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104																0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	A	NG_002467		70714259	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.006	G
AGBL4	84871	genome.wustl.edu	37	1	49511375	49511375	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:49511375C>A	ENST00000371839.1	-	5	591	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	RP11-141A19.1_ENST00000456002.1_RNA|AGBL4_ENST00000371836.1_Missense_Mutation_p.D159Y|AGBL4_ENST00000371838.1_Missense_Mutation_p.D159Y	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	159					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TGGTAAATATCTTCTTCTCGG	0.433																																																	0													118.0	104.0	108.0					1																	49511375		692	1591	2283	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.475G>T	1.37:g.49511375C>A	ENSP00000360905:p.Asp159Tyr		B3KT26|B4DG37	Missense_Mutation	SNP	pfam_Peptidase_M14,smart_Peptidase_M14	p.D159Y	ENST00000371839.1	37	c.475	CCDS44137.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.6|25.6	4.655789|4.655789	0.88056|0.88056	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000371838;ENST00000371836|ENST00000416121	T;T;T|.	0.33865|.	1.39;1.39;1.39|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.059217|.	0.64402|.	D|.	0.000007|.	D|D	0.87807|0.87807	0.6270|0.6270	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.987;0.947|.	D|D	0.91051|0.91051	0.4878|0.4878	9|5	.|.	.|.	.|.	-14.3269|-14.3269	18.6038|18.6038	0.91259|0.91259	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	171;4;159|.	Q5VU57-2;B1AMW2;Q5VU57|.	.;.;CBPC6_HUMAN|.	Y|N	159;153;159;159|4	ENSP00000360905:D159Y;ENSP00000360904:D159Y;ENSP00000360902:D159Y|.	.|.	D|K	-|-	1|3	0|2	AGBL4|AGBL4	49283962|49283962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.463000|7.463000	0.80869|0.80869	2.640000|2.640000	0.89533|0.89533	0.563000|0.563000	0.77884|0.77884	GAT|AAG	AGBL4	-	NULL		0.433	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	C	NM_032785		49511375	-1	no_errors	ENST00000371839	ensembl	human	known	70_37	missense	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21231445	21231445	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:21231445T>A	ENST00000233242.1	-	26	8422	c.8295A>T	c.(8293-8295)caA>caT	p.Q2765H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2765					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAGGAGATTGGATTTTCA	0.438																																																	0													136.0	138.0	137.0					2																	21231445		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8295A>T	2.37:g.21231445T>A	ENSP00000233242:p.Gln2765His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q2765H	ENST00000233242.1	37	c.8295	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	6.874	0.530731	0.13127	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00776	5.71	5.36	-4.97	0.03029	.	0.156624	0.30311	N	0.009915	T	0.01156	0.0038	M	0.70595	2.14	0.58432	D	0.999998	D	0.57899	0.981	P	0.48840	0.592	T	0.59968	-0.7354	10	0.33940	T	0.23	.	4.995	0.14233	0.1716:0.1284:0.092:0.608	.	2765	P04114	APOB_HUMAN	H	2765	ENSP00000233242:Q2765H	ENSP00000233242:Q2765H	Q	-	3	2	APOB	21084950	0.000000	0.05858	0.963000	0.40424	0.264000	0.26372	-3.191000	0.00564	-0.533000	0.06323	-0.375000	0.07067	CAA	APOB	-	NULL		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	T			21231445	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.002	A
ALMS1	7840	genome.wustl.edu	37	2	73659359	73659359	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:73659359C>T	ENST00000264448.6	+	7	1483	c.1372C>T	c.(1372-1374)Ctc>Ttc	p.L458F	ALMS1_ENST00000377715.1_Missense_Mutation_p.L458F|ALMS1_ENST00000409009.1_Missense_Mutation_p.L416F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	458					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTCTTCAGATCTCAGAATGTT	0.393																																																	0													98.0	91.0	93.0					2																	73659359		1855	4096	5951	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.1372C>T	2.37:g.73659359C>T	ENSP00000264448:p.Leu458Phe		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.L458F	ENST00000264448.6	37	c.1372	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882998	0.33255	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.28895	2.45;2.45;1.59	4.41	4.41	0.53225	.	0.000000	0.41001	D	0.000964	T	0.44095	0.1277	L	0.36672	1.1	0.29702	N	0.840121	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.30851	-0.9964	10	0.87932	D	0	.	12.8049	0.57607	0.0:1.0:0.0:0.0	.	416;458	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	F	416;458;458	ENSP00000386627:L416F;ENSP00000264448:L458F;ENSP00000366944:L458F	ENSP00000264448:L458F	L	+	1	0	ALMS1	73512867	1.000000	0.71417	1.000000	0.80357	0.171000	0.22731	3.594000	0.54008	2.745000	0.94114	0.462000	0.41574	CTC	ALMS1	-	NULL		0.393	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73659359	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	1.000	T
APPBP2	10513	genome.wustl.edu	37	17	58524959	58524959	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:58524959C>T	ENST00000083182.3	-	13	2028	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	581					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CTCGGTCCCTCGACATTCTGA	0.488																																																	0													115.0	116.0	115.0					17																	58524959		2203	4300	6503	SO:0001583	missense	10513			AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.1741G>A	17.37:g.58524959C>T	ENSP00000083182:p.Glu581Lys		A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E581K	ENST00000083182.3	37	c.1741	CCDS32699.1	17	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745655	0.49151	.	.	ENSG00000062725	ENST00000083182	D	0.83837	-1.77	5.78	4.81	0.61882	.	0.219310	0.39687	N	0.001283	T	0.65811	0.2727	N	0.08118	0	0.42790	D	0.993895	B	0.27068	0.167	B	0.17433	0.018	T	0.63576	-0.6606	10	0.22109	T	0.4	-12.0999	14.254	0.66038	0.0:0.9292:0.0:0.0708	.	581	Q92624	APBP2_HUMAN	K	581	ENSP00000083182:E581K	ENSP00000083182:E581K	E	-	1	0	APPBP2	55879741	0.995000	0.38212	0.971000	0.41717	0.943000	0.58893	3.340000	0.52143	2.730000	0.93505	0.655000	0.94253	GAG	APPBP2	-	NULL		0.488	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APPBP2	HGNC	protein_coding	OTTHUMT00000449465.1	C	NM_006380		58524959	-1	no_errors	ENST00000083182	ensembl	human	known	70_37	missense	SNP	0.993	T
ARMC7	79637	genome.wustl.edu	37	17	73125203	73125203	+	3'UTR	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:73125203C>T	ENST00000245543.1	+	0	969				ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR|NT5C_ENST00000579082.1_5'Flank	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7							cytoplasm (GO:0005737)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			ACGCAGGGAACGGGGAGCACA	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	79637			AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.*70C>T	17.37:g.73125203C>T			B4DVA4	RNA	SNP	-	NULL	ENST00000245543.1	37	NULL	CCDS11714.1	17																																																																																			ARMC7	-	-		0.602	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC7	HGNC	protein_coding	OTTHUMT00000445846.1	C	NM_024585		73125203	+1	no_errors	ENST00000579096	ensembl	human	known	70_37	rna	SNP	0.001	T
ASH1L	55870	genome.wustl.edu	37	1	155340568	155340568	+	Splice_Site	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:155340568C>T	ENST00000368346.3	-	11	7193	c.6554G>A	c.(6553-6555)aGg>aAg	p.R2185K	ASH1L_ENST00000392403.3_Splice_Site_p.R2180K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2185	Catalytic domain.|SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACCACCGTACCTGAACTCCTG	0.408																																																	0													102.0	111.0	108.0					1																	155340568		2203	4300	6503	SO:0001630	splice_region_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6554+1G>A	1.37:g.155340568C>T			Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.R2185K	ENST00000368346.3	37	c.6554		1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039182	0.75617	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.81078	-1.45;-1.45	5.4	5.4	0.78164	SET domain (3);	0.000000	0.85682	D	0.000000	T	0.76378	0.3979	N	0.12853	0.265	0.80722	D	1	D;P	0.53151	0.958;0.949	D;D	0.72625	0.978;0.963	T	0.76881	-0.2795	9	.	.	.	.	18.7698	0.91887	0.0:1.0:0.0:0.0	.	2185;2180	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	2185;2180	ENSP00000357330:R2185K;ENSP00000376204:R2180K	.	R	-	2	0	ASH1L	153607192	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.796000	0.85898	2.548000	0.85928	0.650000	0.86243	AGG	ASH1L	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	C	NM_018489	Missense_Mutation	155340568	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP10A	57194	genome.wustl.edu	37	15	25966967	25966967	+	Silent	SNP	G	G	A	rs542299949		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr15:25966967G>A	ENST00000356865.6	-	7	1311	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	400					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGTTTCTTCGTCATACAACT	0.423													g|||	1	0.000199681	0.0	0.0014	5008	,	,		19407	0.0		0.0	False		,,,				2504	0.0																0													136.0	125.0	128.0					15																	25966967		2203	4300	6503	SO:0001819	synonymous_variant	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1200C>T	15.37:g.25966967G>A			Q4G0S9|Q969I4	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D400	ENST00000356865.6	37	c.1200	CCDS32178.1	15																																																																																			ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.423	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	G	NM_024490		25966967	-1	no_errors	ENST00000356865	ensembl	human	known	70_37	silent	SNP	0.300	A
BAP1	8314	genome.wustl.edu	37	3	52439883	52439883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr3:52439883G>A	ENST00000460680.1	-	10	1300	c.829C>T	c.(829-831)Caa>Taa	p.Q277*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q259*	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	188					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TGTGACTCTTGAGACTTGTGG	0.557			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													70.0	69.0	69.0					3																	52439883		2203	4300	6503	SO:0001587	stop_gained	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.829C>T	3.37:g.52439883G>A	ENSP00000417132:p.Gln277*		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Nonsense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.Q277*	ENST00000460680.1	37	c.829	CCDS2853.1	3	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790313	0.90367	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	.	.	.	5.35	5.35	0.76521	.	0.166976	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-6.9603	14.293	0.66292	0.0:0.0:0.8514:0.1486	.	.	.	.	X	277;259	.	ENSP00000296288:Q259X	Q	-	1	0	BAP1	52414923	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.847000	0.62867	2.663000	0.90544	0.561000	0.74099	CAA	BAP1	-	NULL		0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	G			52439883	-1	no_errors	ENST00000460680	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CACNA1F	778	genome.wustl.edu	37	X	49072951	49072951	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:49072951G>A	ENST00000376265.2	-	27	3221	c.3160C>T	c.(3160-3162)Cgg>Tgg	p.R1054W	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1043W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R989W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1054					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCAGGGGCCGTGACACGTCT	0.562																																																	0													59.0	46.0	50.0					X																	49072951		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3160C>T	X.37:g.49072951G>A	ENSP00000365441:p.Arg1054Trp		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R1054W	ENST00000376265.2	37	c.3160	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	17.82	3.482977	0.63962	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.89;-3.88	4.76	2.88	0.33553	Ion transport (1);	0.000000	0.29119	N	0.013082	D	0.96546	0.8873	L	0.44542	1.39	0.35152	D	0.76985	D;D	0.76494	0.998;0.999	P;D	0.78314	0.804;0.991	D	0.97184	0.9853	10	0.72032	D	0.01	.	11.5313	0.50612	0.0:0.0:0.6637:0.3363	.	1043;1054	F5CIQ9;O60840	.;CAC1F_HUMAN	W	989;1043;1054	ENSP00000365427:R989W;ENSP00000321618:R1043W;ENSP00000365441:R1054W	ENSP00000321618:R1043W	R	-	1	2	CACNA1F	48959895	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	4.638000	0.61353	0.225000	0.20959	0.513000	0.50165	CGG	CACNA1F	-	pfam_Ion_trans_dom		0.562	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49072951	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	0.998	A
CASP10	843	genome.wustl.edu	37	2	202060612	202060612	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:202060612C>G	ENST00000272879.5	+	5	809	c.625C>G	c.(625-627)Caa>Gaa	p.Q209E	CASP10_ENST00000374650.3_Missense_Mutation_p.Q209E|CASP10_ENST00000448480.1_Missense_Mutation_p.Q209E|CASP10_ENST00000313728.7_Missense_Mutation_p.Q209E|CASP10_ENST00000360132.3_Missense_Mutation_p.Q209E|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.Q209E|CASP10_ENST00000286186.6_Missense_Mutation_p.Q209E	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	209					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CGAGTCGTATCAAGGAGAGGA	0.433																																																	0													225.0	210.0	215.0					2																	202060612		2203	4300	6503	SO:0001583	missense	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.625C>G	2.37:g.202060612C>G	ENSP00000272879:p.Gln209Glu		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	pfam_Pept_C14_cat,pfam_DED,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q209E	ENST00000272879.5	37	c.625	CCDS2338.1	2	.	.	.	.	.	.	.	.	.	.	C	7.243	0.601691	0.13939	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T;T;T	0.44482	4.5;0.92;4.42;0.94;4.46;4.17;4.39	3.42	2.52	0.30459	.	1.988590	0.02064	N	0.051008	T	0.23054	0.0557	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.17038	0.0;0.003;0.013;0.001;0.0;0.02	B;B;B;B;B;B	0.12156	0.002;0.003;0.005;0.003;0.003;0.007	T	0.25012	-1.0144	10	0.02654	T	1	.	8.9003	0.35490	0.0:0.7725:0.2275:0.0	.	209;209;209;209;209;209	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	E	209	ENSP00000286186:Q209E;ENSP00000353250:Q209E;ENSP00000272879:Q209E;ENSP00000363781:Q209E;ENSP00000237865:Q209E;ENSP00000314599:Q209E;ENSP00000396835:Q209E	ENSP00000272879:Q209E	Q	+	1	0	CASP10	201768857	0.001000	0.12720	0.001000	0.08648	0.286000	0.27126	1.171000	0.31896	0.992000	0.38840	0.655000	0.94253	CAA	CASP10	-	NULL		0.433	CASP10-002	KNOWN	basic|CCDS	protein_coding	CASP10	HGNC	protein_coding	OTTHUMT00000256273.1	C	NM_032977		202060612	+1	no_errors	ENST00000286186	ensembl	human	known	70_37	missense	SNP	0.001	G
CBX3	11335	genome.wustl.edu	37	7	26242433	26242433	+	Intron	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr7:26242433C>T	ENST00000337620.4	+	2	400				HNRNPA2B1_ENST00000356674.7_5'Flank|CBX3_ENST00000396386.2_Intron|CBX3_ENST00000409747.1_Intron|HNRNPA2B1_ENST00000354667.4_5'Flank|CBX3_ENST00000497498.1_3'UTR	NM_007276.4	NP_009207.2	Q13185	CBX3_HUMAN	chromobox homolog 3						chromatin remodeling (GO:0006338)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome, centromeric region (GO:0000779)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nuclear pericentric heterochromatin (GO:0031618)|nucleus (GO:0005634)|spindle (GO:0005819)	enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)|identical protein binding (GO:0042802)|protein domain specific binding (GO:0019904)			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						TTAAGTACATCATAAGCAATG	0.423																																																	0																																										SO:0001627	intron_variant	11335			U26312	CCDS5398.1	7p15.2	2010-07-06	2010-06-24		ENSG00000122565	ENSG00000122565			1553	protein-coding gene	gene with protein product	"""HP1 gamma homolog (Drosophila)"""	604477	"""chromobox homolog 3 (Drosophila HP1 gamma)"""			8663349	Standard	NM_016587		Approved	HP1Hs-gamma	uc003sxu.3	Q13185	OTTHUMG00000022911	ENST00000337620.4:c.-28-158C>T	7.37:g.26242433C>T			Q96CD7|Q99409|Q9BVS3|Q9P0Z6	RNA	SNP	-	NULL	ENST00000337620.4	37	NULL	CCDS5398.1	7																																																																																			CBX3	-	-		0.423	CBX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX3	HGNC	protein_coding	OTTHUMT00000214117.1	C	NM_007276		26242433	+1	no_errors	ENST00000497498	ensembl	human	known	70_37	rna	SNP	0.000	T
CEL	1056	genome.wustl.edu	37	9	135945997	135945997	+	Missense_Mutation	SNP	C	C	T	rs201677850	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:135945997C>T	ENST00000372080.4	+	10	1461	c.1445C>T	c.(1444-1446)aCa>aTa	p.T482I	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	479					cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAAGACAGGACAGTCTCTAAG	0.607																																																	0													83.0	95.0	91.0					9																	135945997		2003	4163	6166	SO:0001583	missense	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.1445C>T	9.37:g.135945997C>T	ENSP00000361151:p.Thr482Ile		Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T482I	ENST00000372080.4	37	c.1445	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	C	17.46	3.395574	0.62177	.	.	ENSG00000170835	ENST00000372080;ENST00000303626	T	0.67171	-0.25	5.69	5.69	0.88448	Carboxylesterase, type B (1);	0.296062	0.38058	N	0.001840	T	0.57344	0.2047	N	0.13327	0.33	0.80722	D	1	D	0.54397	0.966	P	0.50352	0.638	T	0.55386	-0.8149	10	0.26408	T	0.33	.	13.7707	0.63023	0.1534:0.8466:0.0:0.0	.	479	P19835	CEL_HUMAN	I	482;481	ENSP00000361151:T482I	ENSP00000304021:T481I	T	+	2	0	CEL	134935818	0.940000	0.31905	0.109000	0.21407	0.603000	0.37013	2.046000	0.41260	2.698000	0.92095	0.472000	0.43445	ACA	CEL	-	pfam_CarbesteraseB		0.607	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	C			135945997	+1	no_errors	ENST00000372080	ensembl	human	known	70_37	missense	SNP	0.994	T
WASH3P	374666	genome.wustl.edu	37	15	102516816	102516816	+	RNA	SNP	G	G	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr15:102516816G>T	ENST00000557932.1	+	0	1679				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGATGCAAACGTCTCGGGGTC	0.527																																																	0																																												100288486					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516816G>T				RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			DDX11L9	-	-		0.527	WASH3P-001	KNOWN	basic	processed_transcript	DDX11L9	HGNC	pseudogene	OTTHUMT00000417608.1	G	NM_199163		102516816	-1	no_errors	ENST00000559159	ensembl	human	known	70_37	rna	SNP	0.000	T
DGKH	160851	genome.wustl.edu	37	13	42773749	42773749	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr13:42773749G>C	ENST00000337343.4	+	19	2354	c.2333G>C	c.(2332-2334)gGa>gCa	p.G778A	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.G642A|DGKH_ENST00000261491.5_Missense_Mutation_p.G778A|DGKH_ENST00000538674.1_Missense_Mutation_p.G533A|DGKH_ENST00000540693.1_Missense_Mutation_p.G778A|DGKH_ENST00000379274.2_Missense_Mutation_p.G642A	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	778					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGATTGGATTAGATGCA	0.284																																																	0													33.0	35.0	34.0					13																	42773749		2197	4283	6480	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2333G>C	13.37:g.42773749G>C	ENSP00000337572:p.Gly778Ala		A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.G778A	ENST00000337343.4	37	c.2333	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756329	0.89843	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	D;D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	5.79	5.79	0.91817	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	H	0.97186	3.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97578	1.0109	10	0.87932	D	0	.	20.0367	0.97561	0.0:0.0:1.0:0.0	.	533;642;778;778	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	A	778;778;778;642;642;533	ENSP00000440823:G778A;ENSP00000337572:G778A;ENSP00000261491:G778A;ENSP00000368576:G642A;ENSP00000445114:G642A;ENSP00000441308:G533A	ENSP00000261491:G778A	G	+	2	0	DGKH	41671749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.714000	0.98744	2.727000	0.93392	0.591000	0.81541	GGA	DGKH	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.284	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	G	NM_178009		42773749	+1	no_errors	ENST00000337343	ensembl	human	known	70_37	missense	SNP	1.000	C
DLEU7	220107	genome.wustl.edu	37	13	51287267	51287267	+	3'UTR	SNP	C	C	A	rs140741697	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr13:51287267C>A	ENST00000400393.3	-	0	861				DLEU7_ENST00000443723.1_5'UTR	NM_198989.2	NP_945340.2	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7														Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		AACATCCCATCTCATCCCATC	0.443																																																	0													71.0	61.0	64.0					13																	51287267		692	1591	2283	SO:0001624	3_prime_UTR_variant	220107			AK126830	CCDS53869.1	13q14.3	2005-02-22			ENSG00000186047	ENSG00000186047			17567	protein-coding gene	gene with protein product						14706829	Standard	NM_198989		Approved	FLJ44882	uc001vex.2	Q6UYE1	OTTHUMG00000016936	ENST00000400393.3:c.*86G>T	13.37:g.51287267C>A			Q2M2E4|Q6ZT82	RNA	SNP	-	NULL	ENST00000400393.3	37	NULL	CCDS53869.1	13																																																																																			DLEU7	-	-		0.443	DLEU7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEU7	HGNC	protein_coding	OTTHUMT00000361815.1	C	NM_198989		51287267	-1	no_errors	ENST00000443723	ensembl	human	known	70_37	rna	SNP	0.123	A
AC109351.1	0	genome.wustl.edu	37	4	29751861	29751861	+	RNA	DEL	A	A	-	rs113375137	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr4:29751861delA	ENST00000390756.1	+	0	44																											CTTGAGAAGGAAAAAAAAAAT	0.308													|||unknown(HR)	243	0.0485224	0.0961	0.0375	5008	,	,		17644	0.0069		0.0596	False		,,,				2504	0.0235																0																																												0																															4.37:g.29751861delA				RNA	DEL	-	NULL	ENST00000390756.1	37	NULL		4																																																																																			AC109351.1	-	-		0.308	AC109351.1-201	NOVEL	basic	miRNA	ENSG00000212045	Clone_based_ensembl_gene	miRNA		A			29751861	+1	no_errors	ENST00000390756	ensembl	human	novel	70_37	rna	DEL	1.000	-
FAM27B	100133121	genome.wustl.edu	37	9	67793515	67793515	+	Intron	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:67793515C>T	ENST00000377484.3	-	2	215				RP11-12A20.7_ENST00000315762.5_RNA			Q5VT28	FAM27_HUMAN	family with sequence similarity 27, member B																		AAAGACAGGCCGCCATGCGAC	0.582																																																	0																																										SO:0001627	intron_variant	0					9q13	2014-05-06			ENSG00000170215	ENSG00000278763			23667	other	unknown							Standard	NR_027422		Approved	bA12A20.3, FAM27A2	uc004aet.4	Q5VT28	OTTHUMG00000188586	ENST00000377484.3:c.79-177G>A	9.37:g.67793515C>T				RNA	SNP	-	NULL	ENST00000377484.3	37	NULL		9																																																																																			RP11-12A20.7	-	-		0.582	FAM27B-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000236233	Clone_based_vega_gene	protein_coding	OTTHUMT00000037106.1	C	NR_027422		67793515	+1	no_errors	ENST00000315762	ensembl	human	known	70_37	rna	SNP	0.026	T
SLC12A6	9990	genome.wustl.edu	37	15	34549807	34549807	+	Intron	SNP	G	G	A	rs200288561		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr15:34549807G>A	ENST00000354181.3	-	6	1183				RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000560611.1_Intron|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000558667.1_Intron|SLC12A6_ENST00000560164.1_Intron|SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000397707.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000290209.5_Intron			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6						angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AACTTGCAACGTTCAGGTGAT	0.448																																																	0													58.0	51.0	53.0					15																	34549807		2201	4298	6499	SO:0001627	intron_variant	0			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.690+35C>T	15.37:g.34549807G>A			A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	RNA	SNP	-	NULL	ENST00000354181.3	37	NULL	CCDS58352.1	15																																																																																			RP11-1084A12.2	-	-		0.448	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000259468	Clone_based_vega_gene	protein_coding	OTTHUMT00000417991.1	G	NM_005135		34549807	+1	no_errors	ENST00000559867	ensembl	human	known	70_37	rna	SNP	0.000	A
CD22	933	genome.wustl.edu	37	19	35822749	35822750	+	Intron	INS	-	-	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:35822749_35822750insA	ENST00000085219.5	+	2	44				CD22_ENST00000341773.6_Intron|CD22_ENST00000419549.2_Intron|U62631.5_ENST00000597110.1_RNA|CD22_ENST00000594250.1_5'Flank|CD22_ENST00000595419.1_Intron|CD22_ENST00000536635.2_Intron|CD22_ENST00000544992.2_Intron|CD22_ENST00000270311.6_Intron	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule						cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			gactctgtctcaaaaaaaaaga	0.554																																					Ovarian(42;1009 1133 23674 26041)												0																																										SO:0001627	intron_variant	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.-22-172->A	19.37:g.35822758_35822758dupA			F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	RNA	INS	-	NULL	ENST00000085219.5	37	NULL	CCDS12457.1	19																																																																																			U62631.5	-	-		0.554	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000269553	Clone_based_vega_gene	protein_coding	OTTHUMT00000466099.1	-	NM_001771		35822750	+1	no_errors	ENST00000597110	ensembl	human	known	70_37	rna	INS	0.001:0.001	A
FAM73B	84895	genome.wustl.edu	37	9	131804535	131804535	+	Intron	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:131804535G>A	ENST00000358369.4	+	3	322				FAM73B_ENST00000277475.5_Intron|FAM73B_ENST00000406926.2_Intron|FAM73B_ENST00000474534.1_Intron	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B						bone development (GO:0060348)	integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						TGCTGCCTTGGACCTTCCCCA	0.637																																																	0													27.0	21.0	23.0					9																	131804535		2203	4300	6503	SO:0001627	intron_variant	84895			AK074127	CCDS6917.1	9q34.13	2008-02-05	2005-08-11	2005-08-11	ENSG00000148343	ENSG00000148343			23621	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 54"""	C9orf54			Standard	NM_032809		Approved	FLJ14596, FLJ00199	uc004bxa.3	Q7L4E1	OTTHUMG00000020770	ENST00000358369.4:c.97-48G>A	9.37:g.131804535G>A			Q8NBM3|Q8TEJ6|Q969E6	RNA	SNP	-	NULL	ENST00000358369.4	37	NULL	CCDS6917.1	9																																																																																			FAM73B	-	-		0.637	FAM73B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM73B	HGNC	protein_coding	OTTHUMT00000054542.7	G	NM_032809		131804535	+1	no_errors	ENST00000477088	ensembl	human	known	70_37	rna	SNP	0.000	A
FAM83E	54854	genome.wustl.edu	37	19	49114031	49114031	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:49114031C>T	ENST00000263266.3	-	2	728	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	180										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGGTACCCAGCGGCGCGTGGC	0.662																																																	0													14.0	18.0	17.0					19																	49114031		2098	4229	6327	SO:0001583	missense	54854			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.539G>A	19.37:g.49114031C>T	ENSP00000263266:p.Arg180His		Q9NXK1	Missense_Mutation	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.R180H	ENST00000263266.3	37	c.539	CCDS42587.1	19	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897828	0.72639	.	.	ENSG00000105523	ENST00000263266	T	0.20881	2.04	4.84	2.7	0.31948	.	0.149012	0.44688	N	0.000437	T	0.19805	0.0476	M	0.64630	1.985	0.35207	D	0.774839	P	0.43024	0.798	B	0.36608	0.229	T	0.31223	-0.9951	10	0.87932	D	0	-13.6025	9.4339	0.38626	0.0:0.8217:0.0:0.1783	.	180	Q2M2I3	FA83E_HUMAN	H	180	ENSP00000263266:R180H	ENSP00000263266:R180H	R	-	2	0	FAM83E	53805843	0.993000	0.37304	1.000000	0.80357	0.673000	0.39480	3.095000	0.50235	0.596000	0.29794	0.462000	0.41574	CGC	FAM83E	-	pfam_DUF1669		0.662	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	C	NM_017708		49114031	-1	no_errors	ENST00000263266	ensembl	human	known	70_37	missense	SNP	1.000	T
FARP2	9855	genome.wustl.edu	37	2	242430486	242430486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:242430486G>T	ENST00000264042.3	+	23	2685	c.2515G>T	c.(2515-2517)Gag>Tag	p.E839*		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	839	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CACTCGGCTGGAGAAAGAGAA	0.642																																																	0													80.0	81.0	81.0					2																	242430486		2203	4300	6503	SO:0001587	stop_gained	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2515G>T	2.37:g.242430486G>T	ENSP00000264042:p.Glu839*		B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.E839*	ENST00000264042.3	37	c.2515	CCDS33424.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.687500|4.687500	0.88639|0.88639	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000264042|ENST00000444371	.|.	.|.	.|.	4.15|4.15	4.15|4.15	0.48705|0.48705	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72187	.|0.3429	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72554	.|-0.4258	.|4	0.66056|.	D|.	0.02|.	.|.	17.3376|17.3376	0.87286|0.87286	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	839|32	.|.	ENSP00000264042:E839X|.	E|G	+|+	1|2	0|0	FARP2|FARP2	242079159|242079159	1.000000|1.000000	0.71417|0.71417	0.574000|0.574000	0.28523|0.28523	0.834000|0.834000	0.47266|0.47266	8.684000|8.684000	0.91242|0.91242	2.267000|2.267000	0.75376|0.75376	0.655000|0.655000	0.94253|0.94253	GAG|GGA	FARP2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242430486	+1	no_errors	ENST00000264042	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FCRL3	115352	genome.wustl.edu	37	1	157665960	157665960	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:157665960C>G	ENST00000368184.3	-	7	1293	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N	FCRL3_ENST00000368186.5_Missense_Mutation_p.K334N|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	334	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AACGCTGGGTCTTTCTACCCA	0.507																																																	0													130.0	117.0	122.0					1																	157665960		2203	4300	6503	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1002G>C	1.37:g.157665960C>G	ENSP00000357167:p.Lys334Asn		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K334N	ENST00000368184.3	37	c.1002	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905099	0.52333	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.12984	2.63;2.63	5.35	0.975	0.19721	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.15522	0.0374	M	0.72894	2.215	0.09310	N	1	P;D;P	0.55172	0.888;0.97;0.864	P;D;P	0.65987	0.649;0.94;0.461	T	0.06303	-1.0834	9	0.39692	T	0.17	.	7.5824	0.27972	0.0:0.5907:0.0:0.4093	.	334;239;334	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	N	334	ENSP00000357169:K334N;ENSP00000357167:K334N	ENSP00000292392:K334N	K	-	3	2	FCRL3	155932584	0.873000	0.30073	0.004000	0.12327	0.050000	0.14768	0.897000	0.28390	0.156000	0.19299	0.655000	0.94253	AAG	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.507	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	C	NM_052939		157665960	-1	no_errors	ENST00000368186	ensembl	human	known	70_37	missense	SNP	0.024	G
FERMT1	55612	genome.wustl.edu	37	20	6060088	6060088	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr20:6060088G>A	ENST00000217289.4	-	14	2643	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	FERMT1_ENST00000478194.1_5'UTR|FERMT1_ENST00000536936.1_Missense_Mutation_p.R362W	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	619	FERM.				cell adhesion (GO:0007155)|establishment of epithelial cell polarity (GO:0090162)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTTACCTGCCGGGTTTCCCAG	0.383																																																	0													163.0	156.0	158.0					20																	6060088		2203	4300	6503	SO:0001583	missense	55612			AK000123	CCDS13098.1	20p12.3	2013-01-10	2010-06-24	2007-12-14	ENSG00000101311	ENSG00000101311		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15889	protein-coding gene	gene with protein product	"""kindlin-1"", ""kinderlin"""	607900	"""chromosome 20 open reading frame 42"", ""fermitin family homolog 1 (Drosophila)"""	C20orf42		12697302, 12789646	Standard	NM_017671		Approved	FLJ20116, URP1, KIND1, UNC112A	uc002wmr.3	Q9BQL6	OTTHUMG00000031826	ENST00000217289.4:c.1855C>T	20.37:g.6060088G>A	ENSP00000217289:p.Arg619Trp		D3DW10|Q8IX34|Q8IYH2|Q9NWM2|Q9NXQ3	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R619W	ENST00000217289.4	37	c.1855	CCDS13098.1	20	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731606	0.69189	.	.	ENSG00000101311	ENST00000217289;ENST00000536936	T;T	0.30182	1.54;1.54	5.45	3.33	0.38152	Pleckstrin homology-type (1);	0.052315	0.85682	D	0.000000	T	0.52613	0.1745	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.58222	-0.7674	10	0.87932	D	0	-17.4343	11.3616	0.49646	0.0:0.1292:0.718:0.1528	.	619	Q9BQL6	FERM1_HUMAN	W	619;362	ENSP00000217289:R619W;ENSP00000441063:R362W	ENSP00000217289:R619W	R	-	1	2	FERMT1	6008088	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.447000	0.52936	1.233000	0.43693	0.561000	0.74099	CGG	FERMT1	-	NULL		0.383	FERMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FERMT1	HGNC	protein_coding	OTTHUMT00000077908.2	G	NM_017671		6060088	-1	no_errors	ENST00000217289	ensembl	human	known	70_37	missense	SNP	1.000	A
FGD1	2245	genome.wustl.edu	37	X	54472598	54472598	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:54472598C>T	ENST00000375135.3	-	18	3563	c.2830G>A	c.(2830-2832)Gct>Act	p.A944T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	944					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTCCTAAAGCAGCCACCGGT	0.652																																																	0													21.0	19.0	19.0					X																	54472598		2202	4297	6499	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.2830G>A	X.37:g.54472598C>T	ENSP00000364277:p.Ala944Thr		Q5H999|Q8N4D9	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A944T	ENST00000375135.3	37	c.2830	CCDS14359.1	X	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072247	0.36566	.	.	ENSG00000102302	ENST00000375135	T	0.66280	-0.2	4.97	3.19	0.36642	.	0.281738	0.25777	N	0.028375	T	0.36331	0.0963	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.72032	D	0.01	0.0076	4.1281	0.10136	0.0:0.5389:0.1704:0.2906	.	944	P98174	FGD1_HUMAN	T	944	ENSP00000364277:A944T	ENSP00000364277:A944T	A	-	1	0	FGD1	54489323	0.966000	0.33281	0.158000	0.22627	0.891000	0.51852	0.782000	0.26788	0.589000	0.29677	0.513000	0.50165	GCT	FGD1	-	NULL		0.652	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	HGNC	protein_coding	OTTHUMT00000056801.1	C	NM_004463		54472598	-1	no_errors	ENST00000375135	ensembl	human	known	70_37	missense	SNP	0.001	T
FLT4	2324	genome.wustl.edu	37	5	180041165	180041165	+	Silent	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr5:180041165C>T	ENST00000261937.6	-	24	3312	c.3234G>A	c.(3232-3234)ctG>ctA	p.L1078L	FLT4_ENST00000393347.3_Silent_p.L1078L|FLT4_ENST00000502649.1_Silent_p.L1078L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1078	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATCCACTTCAGGGGCAGCC	0.617																																					Colon(97;1075 1466 27033 27547 35871)												0													92.0	87.0	88.0					5																	180041165		2203	4300	6503	SO:0001819	synonymous_variant	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3234G>A	5.37:g.180041165C>T			A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.L1078	ENST00000261937.6	37	c.3234	CCDS4457.1	5																																																																																			FLT4	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.617	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180041165	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	silent	SNP	1.000	T
FSCB	84075	genome.wustl.edu	37	14	44975706	44975706	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:44975706G>C	ENST00000340446.4	-	1	776	c.485C>G	c.(484-486)tCa>tGa	p.S162*	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000556228.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	162						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CACTATTTCTGATTCACTAAA	0.428																																																	0													183.0	184.0	184.0					14																	44975706		2203	4300	6503	SO:0001587	stop_gained	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.485C>G	14.37:g.44975706G>C	ENSP00000344579:p.Ser162*		Q5H9U7|Q86YI2|Q9H0J3	Nonsense_Mutation	SNP	NULL	p.S162*	ENST00000340446.4	37	c.485	CCDS9679.1	14	.	.	.	.	.	.	.	.	.	.	G	37	6.153555	0.97329	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	.	.	.	5.4	1.81	0.25067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.142	8.3401	0.32239	0.3204:0.0:0.6796:0.0	.	.	.	.	X	162	.	ENSP00000344579:S162X	S	-	2	0	FSCB	44045456	0.073000	0.21202	0.007000	0.13788	0.248000	0.25809	0.633000	0.24598	0.140000	0.18849	0.655000	0.94253	TCA	FSCB	-	NULL		0.428	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCB	HGNC	protein_coding	OTTHUMT00000276788.1	G	NM_032135		44975706	-1	no_errors	ENST00000340446	ensembl	human	known	70_37	nonsense	SNP	0.043	C
FSIP2	401024	genome.wustl.edu	37	2	186670383	186670383	+	Silent	SNP	T	T	C			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:186670383T>C	ENST00000424728.1	+	17	16350	c.16350T>C	c.(16348-16350)tcT>tcC	p.S5450S	FSIP2_ENST00000343098.5_Silent_p.S5539S			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5450										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAGATACTTCTTCCACCCCAG	0.343																																																	0													81.0	76.0	78.0					2																	186670383		1832	4080	5912	SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16350T>C	2.37:g.186670383T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.S5539	ENST00000424728.1	37	c.16617		2																																																																																			FSIP2	-	NULL		0.343	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	T	NM_173651		186670383	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.003	C
GRB7	2886	genome.wustl.edu	37	17	37899685	37899685	+	Missense_Mutation	SNP	G	G	A	rs560775365		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:37899685G>A	ENST00000309156.4	+	6	882	c.625G>A	c.(625-627)Gat>Aat	p.D209N	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000309185.3_Missense_Mutation_p.D209N|GRB7_ENST00000394209.2_Missense_Mutation_p.D209N|GRB7_ENST00000394211.3_Missense_Mutation_p.D209N|GRB7_ENST00000445327.2_Missense_Mutation_p.D232N|GRB7_ENST00000394204.1_Missense_Mutation_p.D209N	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	209					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)	p.S206fs*16(1)|p.D209N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGCTGTCTCGATGCACACAC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18825	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Missense(1)|Deletion - Frameshift(1)	large_intestine(1)|lung(1)											139.0	120.0	126.0					17																	37899685		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.625G>A	17.37:g.37899685G>A	ENSP00000310771:p.Asp209Asn		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.D232N	ENST00000309156.4	37	c.694	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310830	0.60414	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.56776	0.44;1.58;1.58;1.58;1.57;0.44	5.84	5.84	0.93424	.	0.147568	0.64402	D	0.000015	T	0.55641	0.1933	L	0.40543	1.245	0.58432	D	0.999999	D;P	0.59767	0.986;0.835	P;B	0.50270	0.636;0.361	T	0.57254	-0.7843	10	0.62326	D	0.03	-11.8699	17.0446	0.86499	0.0:0.0:1.0:0.0	.	209;209	Q14451-2;Q14451	.;GRB7_HUMAN	N	209;209;209;209;232;209	ENSP00000311752:D209N;ENSP00000310771:D209N;ENSP00000377761:D209N;ENSP00000377759:D209N;ENSP00000403459:D232N;ENSP00000377754:D209N	ENSP00000310771:D209N	D	+	1	0	GRB7	35153211	1.000000	0.71417	0.124000	0.21820	0.305000	0.27757	7.743000	0.85020	2.768000	0.95171	0.561000	0.74099	GAT	GRB7	-	NULL		0.557	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	G	NM_005310		37899685	+1	no_errors	ENST00000445327	ensembl	human	known	70_37	missense	SNP	0.960	A
GRB7	2886	genome.wustl.edu	37	17	37901738	37901738	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:37901738G>A	ENST00000309156.4	+	11	1413	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	GRB7_ENST00000309185.3_Missense_Mutation_p.E386K|GRB7_ENST00000394209.2_Missense_Mutation_p.E386K|GRB7_ENST00000394211.3_Missense_Mutation_p.E386K|GRB7_ENST00000445327.2_Missense_Mutation_p.E409K|GRB7_ENST00000394204.1_Missense_Mutation_p.E386K	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	386					blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGTGTCATTGAGAACCCCCG	0.607																																																	0													65.0	67.0	66.0					17																	37901738		2203	4300	6503	SO:0001583	missense	2886			D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1156G>A	17.37:g.37901738G>A	ENSP00000310771:p.Glu386Lys		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.E409K	ENST00000309156.4	37	c.1225	CCDS11345.1	17	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580731	0.46006	.	.	ENSG00000141738	ENST00000309185;ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327;ENST00000394204	T;T;T;T;T;T	0.59906	0.23;1.53;1.53;1.53;1.52;0.23	5.97	5.0	0.66597	BPS (Between PH and SH2) domain (1);	0.151450	0.64402	D	0.000012	T	0.55194	0.1905	L	0.52126	1.63	0.44085	D	0.996844	B;P	0.34662	0.211;0.462	B;B	0.39590	0.027;0.304	T	0.54057	-0.8350	10	0.39692	T	0.17	-23.7388	13.5517	0.61736	0.0756:0.0:0.9244:0.0	.	386;386	Q14451-2;Q14451	.;GRB7_HUMAN	K	386;386;386;386;409;386	ENSP00000311752:E386K;ENSP00000310771:E386K;ENSP00000377761:E386K;ENSP00000377759:E386K;ENSP00000403459:E409K;ENSP00000377754:E386K	ENSP00000310771:E386K	E	+	1	0	GRB7	35155264	1.000000	0.71417	0.974000	0.42286	0.007000	0.05969	3.361000	0.52306	2.837000	0.97791	0.655000	0.94253	GAG	GRB7	-	pfam_BPS-dom		0.607	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB7	HGNC	protein_coding	OTTHUMT00000257024.2	G	NM_005310		37901738	+1	no_errors	ENST00000445327	ensembl	human	known	70_37	missense	SNP	0.996	A
IL13RA1	3597	genome.wustl.edu	37	X	117900860	117900860	+	Silent	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:117900860C>T	ENST00000371666.3	+	8	997	c.930C>T	c.(928-930)gtC>gtT	p.V310V	IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371637.3_5'Flank	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	310	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGAACACAGTCAGAATAAGAG	0.328																																																	0													70.0	64.0	66.0					X																	117900860		2203	4295	6498	SO:0001819	synonymous_variant	3597			U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.930C>T	X.37:g.117900860C>T			O95646|Q5JSL4|Q99656|Q9UDY5	Silent	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.V310	ENST00000371666.3	37	c.930	CCDS14573.1	X																																																																																			IL13RA1	-	superfamily_Fibronectin_type3		0.328	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA1	HGNC	protein_coding	OTTHUMT00000058009.1	C	NM_001560		117900860	+1	no_errors	ENST00000371666	ensembl	human	known	70_37	silent	SNP	0.997	T
KCNH3	23416	genome.wustl.edu	37	12	49934758	49934758	+	Silent	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr12:49934758C>T	ENST00000257981.6	+	2	413	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	51	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTTCTGTGACCTCACGGGCT	0.617																																																	0													69.0	67.0	67.0					12																	49934758		2203	4300	6503	SO:0001819	synonymous_variant	23416			AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.153C>T	12.37:g.49934758C>T			Q9UQ06	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.D51	ENST00000257981.6	37	c.153	CCDS8786.1	12																																																																																			KCNH3	-	pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,pfscan_PAS,tigrfam_PAS		0.617	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH3	HGNC	protein_coding	OTTHUMT00000404571.2	C	NM_012284		49934758	+1	no_errors	ENST00000257981	ensembl	human	known	70_37	silent	SNP	1.000	T
KDM8	79831	genome.wustl.edu	37	16	27221434	27221434	+	5'UTR	SNP	G	G	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr16:27221434G>T	ENST00000286096.4	+	0	163				KDM8_ENST00000568965.1_5'Flank|KDM8_ENST00000380948.2_5'UTR|KDM8_ENST00000441782.2_Missense_Mutation_p.G35V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8						G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)										GAACCAGCTGGTGGTGGCCCG	0.622																																																	0													57.0	66.0	63.0					16																	27221434		2195	4294	6489	SO:0001623	5_prime_UTR_variant	79831			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.-11G>T	16.37:g.27221434G>T			B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G35V	ENST00000286096.4	37	c.104	CCDS10627.1	16	.	.	.	.	.	.	.	.	.	.	G	6.177	0.400919	0.11696	.	.	ENSG00000155666	ENST00000441782	T	0.26660	1.72	2.18	2.18	0.27775	.	.	.	.	.	T	0.34279	0.0892	.	.	.	0.23645	N	0.997217	P	0.49185	0.92	P	0.55391	0.775	T	0.06679	-1.0813	8	0.44086	T	0.13	.	7.9256	0.29872	0.0:0.0:1.0:0.0	.	35	Q8N371-3	.	V	35	ENSP00000398410:G35V	ENSP00000398410:G35V	G	+	2	0	JMJD5	27128935	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	0.633000	0.24598	1.571000	0.49722	0.561000	0.74099	GGT	KDM8	-	NULL		0.622	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM8	HGNC	protein_coding	OTTHUMT00000254580.3	G	NM_024773		27221434	+1	no_errors	ENST00000441782	ensembl	human	known	70_37	missense	SNP	0.001	T
KIF13A	63971	genome.wustl.edu	37	6	17826021	17826021	+	Silent	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr6:17826021G>A	ENST00000259711.6	-	16	1869	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	KIF13A_ENST00000378816.5_Silent_p.I588I|KIF13A_ENST00000378814.5_Silent_p.I588I|KIF13A_ENST00000378826.2_Silent_p.I588I|KIF13A_ENST00000378843.2_Silent_p.I588I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	588					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGGTTTTCATGATAACTTCCA	0.478																																																	0													101.0	101.0	101.0					6																	17826021		1940	4133	6073	SO:0001819	synonymous_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1764C>T	6.37:g.17826021G>A			A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I588	ENST00000259711.6	37	c.1764	CCDS47381.1	6																																																																																			KIF13A	-	NULL		0.478	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17826021	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP1LC3B	81631	genome.wustl.edu	37	16	87436639	87436640	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr16:87436639_87436640insAG	ENST00000268607.5	+	4	942_943	c.314_315insAG	c.(313-318)gaagatfs	p.D106fs	MAP1LC3B_ENST00000534986.1_Frame_Shift_Ins_p.D47fs|RP11-178L8.3_ENST00000569147.1_RNA	NM_022818.4	NP_073729.1	Q9GZQ8	MLP3B_HUMAN	microtubule-associated protein 1 light chain 3 beta	106					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasmic vesicle (GO:0031410)|intracellular (GO:0005622)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(80;0.0249)		GAGAAAGATGAAGATGGATTCC	0.45																																																	0																																										SO:0001589	frameshift_variant	81631			AF087871	CCDS10960.1	16q24.2	2014-02-12			ENSG00000140941	ENSG00000140941			13352	protein-coding gene	gene with protein product		609604					Standard	NM_022818		Approved	ATG8F	uc002fjx.3	Q9GZQ8	OTTHUMG00000137654	ENST00000268607.5:c.315_316dupAG	16.37:g.87436640_87436641dupAG	ENSP00000268607:p.Asp106fs		Q6NW02	Frame_Shift_Ins	INS	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.D106fs	ENST00000268607.5	37	c.314_315	CCDS10960.1	16																																																																																			MAP1LC3B	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12		0.450	MAP1LC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1LC3B	HGNC	protein_coding	OTTHUMT00000269106.1	-			87436640	+1	no_errors	ENST00000268607	ensembl	human	known	70_37	frame_shift_ins	INS	0.996:0.674	AG
MARCH4	57574	genome.wustl.edu	37	2	217142480	217142480	+	Silent	SNP	G	G	A	rs139354980		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:217142480G>A	ENST00000273067.4	-	3	2546	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	260						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGAGGGGCTGAAAGTTGACC	0.557																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	142.0	119.0	127.0		780	5.4	1.0	2	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous	MARCH4	NM_020814.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		260/411	217142480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57574			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.780C>T	2.37:g.217142480G>A			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.F260	ENST00000273067.4	37	c.780	CCDS33376.1	2																																																																																			MARCH4	-	NULL		0.557	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	G	NM_020814		217142480	-1	no_errors	ENST00000273067	ensembl	human	known	70_37	silent	SNP	1.000	A
MASTL	84930	genome.wustl.edu	37	10	27459855	27459855	+	Missense_Mutation	SNP	G	G	A	rs563122532		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr10:27459855G>A	ENST00000375940.4	+	8	2024	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	MASTL_ENST00000342386.6_Missense_Mutation_p.R656Q|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.R656Q			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTGCTTTTCGAAGTTTTAAC	0.398																																																	0													100.0	100.0	100.0					10																	27459855		2203	4300	6503	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1967G>A	10.37:g.27459855G>A	ENSP00000365107:p.Arg656Gln		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R656Q	ENST00000375940.4	37	c.1967	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045618	0.75846	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.22539	1.95;1.95;1.95	5.28	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058887	0.64402	N	0.000003	T	0.29817	0.0745	M	0.75264	2.295	0.48452	D	0.999658	D;D;D	0.61697	0.99;0.973;0.98	P;B;B	0.46718	0.525;0.264;0.372	T	0.09509	-1.0671	10	0.46703	T	0.11	-2.5017	11.1234	0.48304	0.1489:0.0:0.8511:0.0	.	656;656;656	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	Q	656	ENSP00000365113:R656Q;ENSP00000343446:R656Q;ENSP00000365107:R656Q	ENSP00000343446:R656Q	R	+	2	0	MASTL	27499861	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.400000	0.59709	1.353000	0.45828	0.591000	0.81541	CGA	MASTL	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.398	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	HGNC	protein_coding	OTTHUMT00000047320.1	G	NM_032844		27459855	+1	no_errors	ENST00000375940	ensembl	human	known	70_37	missense	SNP	1.000	A
MIER1	57708	genome.wustl.edu	37	1	67425494	67425495	+	Intron	INS	-	-	T	rs560468800|rs527550827|rs35465377|rs397747145	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:67425494_67425495insT	ENST00000355356.3	+	6	689				MIER1_ENST00000355977.6_Intron|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371018.3_Intron|MIER1_ENST00000357692.2_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000401041.1_Intron	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator						positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TCGTGTAATTATTTTTTTTTTT	0.248																																																	0																																										SO:0001627	intron_variant	57708				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.540+68->T	1.37:g.67425505_67425505dupT			C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	RNA	INS	-	NULL	ENST00000355356.3	37	NULL	CCDS41348.1	1																																																																																			MIER1	-	-		0.248	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	-	NM_020948		67425495	+1	no_errors	ENST00000493357	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
NOXA1	10811	genome.wustl.edu	37	9	140320724	140320724	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr9:140320724G>A	ENST00000341349.2	+	2	382	c.202G>A	c.(202-204)Gac>Aac	p.D68N	NOXA1_ENST00000392815.2_Missense_Mutation_p.D68N	NM_001256067.1|NM_006647.1	NP_001242996.1|NP_006638.1	Q86UR1	NOXA1_HUMAN	NADPH oxidase activator 1	68	Mediates interaction with RAC1.				positive regulation of catalytic activity (GO:0043085)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|Rac GTPase binding (GO:0048365)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CGTGACCAAGGACACCTGCAT	0.572																																																	0													146.0	121.0	130.0					9																	140320724		2203	4300	6503	SO:0001583	missense	10811			AF039697	CCDS7042.1, CCDS59157.1	9q34.3	2013-09-20	2002-12-09	2002-12-13	ENSG00000188747	ENSG00000188747			10668	protein-coding gene	gene with protein product		611255	"""serologically defined colon cancer antigen 31"""	SDCCAG31		9610721	Standard	NM_001256067		Approved	NY-CO-31, FLJ25475	uc004cmu.3	Q86UR1	OTTHUMG00000131781	ENST00000341349.2:c.202G>A	9.37:g.140320724G>A	ENSP00000342848:p.Asp68Asn		O60533|Q29VU9|Q29VV0|Q2TAM1|Q8IUS3	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_TPR_repeat,smart_OPR_PB1,smart_SH3_domain,pfscan_SH3_domain,pfscan_TPR-contain_dom	p.D68N	ENST00000341349.2	37	c.202	CCDS7042.1	9	.	.	.	.	.	.	.	.	.	.	g	16.52	3.145967	0.57044	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	T;T	0.39229	1.09;1.09	4.67	4.67	0.58626	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.137889	0.52532	D	0.000068	T	0.65228	0.2671	M	0.80982	2.52	0.38498	D	0.94816	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73020	-0.4114	10	0.87932	D	0	.	13.1289	0.59369	0.0:0.0:1.0:0.0	.	68;68;68	Q86UR1-3;Q86UR1;Q86UR1-2	.;NOXA1_HUMAN;.	N	68	ENSP00000342848:D68N;ENSP00000376562:D68N	ENSP00000342848:D68N	D	+	1	0	NOXA1	139440545	1.000000	0.71417	0.991000	0.47740	0.076000	0.17211	5.838000	0.69388	2.161000	0.67846	0.550000	0.68814	GAC	NOXA1	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.572	NOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXA1	HGNC	protein_coding	OTTHUMT00000254713.1	G			140320724	+1	no_errors	ENST00000341349	ensembl	human	known	70_37	missense	SNP	0.997	A
OR6C1	390321	genome.wustl.edu	37	12	55714406	55714407	+	Frame_Shift_Ins	INS	-	-	A	rs5798345|rs74350806|rs80197193	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr12:55714406_55714407insA	ENST00000379668.2	+	1	61_62	c.23_24insA	c.(22-27)acagagfs	p.E9fs		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						ACAGAAATAACAGAGTTTATTC	0.381													A|A|AA|insertion	1647	0.328874	0.1634	0.4496	5008	,	,		18561	0.3413		0.4264	False		,,,				2504	0.3538																0										785,3479		74,637,1421						0.1	0.0		dbSNP_114	61	3536,4718		747,2042,1338	no	frameshift	OR6C1	NM_001005182.1		821,2679,2759	A1A1,A1R,RR		42.8398,18.4099,34.5183				4321,8197				SO:0001589	frameshift_variant	390321			AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.24dupA	12.37:g.55714407_55714407dupA	ENSP00000368990:p.Glu9fs		B2RNM0	Frame_Shift_Ins	INS	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E9fs	ENST00000379668.2	37	c.23_24	CCDS31818.1	12																																																																																			OR6C1	-	NULL		0.381	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C1	HGNC	protein_coding	OTTHUMT00000398152.1	-	NM_001005182		55714407	+1	no_errors	ENST00000379668	ensembl	human	known	70_37	frame_shift_ins	INS	0.038:0.306	A
PABPC3	5042	genome.wustl.edu	37	13	25670978	25670978	+	Silent	SNP	C	C	T	rs556008880	byFrequency	TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr13:25670978C>T	ENST00000281589.3	+	1	679	c.642C>T	c.(640-642)ttC>ttT	p.F214F		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	214	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTGGCAAGTTCGGGCCCGCCT	0.433													c|||	26	0.00519169	0.0091	0.0058	5008	,	,		20039	0.001		0.003	False		,,,				2504	0.0061																0													88.0	82.0	84.0					13																	25670978		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.642C>T	13.37:g.25670978C>T			Q8NHV0|Q9H086	Silent	SNP	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.F214	ENST00000281589.3	37	c.642	CCDS9311.1	13																																																																																			PABPC3	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.433	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC3	HGNC	protein_coding	OTTHUMT00000044220.2	C	NM_030979		25670978	+1	no_errors	ENST00000281589	ensembl	human	known	70_37	silent	SNP	0.992	T
PAK6	56924	genome.wustl.edu	37	15	40558568	40558568	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr15:40558568G>A	ENST00000542403.2	+	3	841	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	PAK6_ENST00000441369.1_Missense_Mutation_p.E244K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.E244K|PAK6_ENST00000559901.1_3'UTR|PAK6_ENST00000260404.4_Missense_Mutation_p.E244K|PAK6_ENST00000453867.1_Missense_Mutation_p.E244K|PAK6_ENST00000455577.2_Missense_Mutation_p.E244K	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	244	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GCCAGGTGGGGAAGGCAGCCC	0.642																																																	0													22.0	27.0	25.0					15																	40558568		2193	4291	6484	SO:0001583	missense	56924			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.730G>A	15.37:g.40558568G>A	ENSP00000439597:p.Glu244Lys		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.E244K	ENST00000542403.2	37	c.730	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498662	0.64298	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73681	-0.73;-0.73;-0.77;-0.73;-0.73	5.35	5.35	0.76521	.	0.647706	0.16493	N	0.212014	T	0.75568	0.3867	L	0.27053	0.805	0.53005	D	0.999969	D;D	0.60160	0.957;0.987	P;P	0.54270	0.563;0.747	T	0.76102	-0.3082	10	0.45353	T	0.12	.	19.0762	0.93163	0.0:0.0:1.0:0.0	.	244;244	Q9NQU5;G5E9R2	PAK6_HUMAN;.	K	244	ENSP00000406873:E244K;ENSP00000401153:E244K;ENSP00000409465:E244K;ENSP00000260404:E244K;ENSP00000439597:E244K	ENSP00000260404:E244K	E	+	1	0	PAK6	38345860	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.286000	0.72665	2.521000	0.84997	0.462000	0.41574	GAA	PAK6	-	NULL		0.642	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	G			40558568	+1	no_errors	ENST00000260404	ensembl	human	known	70_37	missense	SNP	0.999	A
PLEC	5339	genome.wustl.edu	37	8	145004627	145004627	+	Silent	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr8:145004627C>T	ENST00000322810.4	-	20	2962	c.2793G>A	c.(2791-2793)ctG>ctA	p.L931L	PLEC_ENST00000356346.3_Silent_p.L780L|PLEC_ENST00000354589.3_Silent_p.L794L|PLEC_ENST00000354958.2_Silent_p.L772L|PLEC_ENST00000398774.2_Silent_p.L762L|PLEC_ENST00000527096.1_Silent_p.L817L|PLEC_ENST00000345136.3_Silent_p.L794L|PLEC_ENST00000357649.2_Silent_p.L798L|PLEC_ENST00000436759.2_Silent_p.L821L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	931	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCGGGGCTTCAGCTGCACGA	0.692																																																	0													11.0	16.0	14.0					8																	145004627		1934	4114	6048	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2793G>A	8.37:g.145004627C>T			Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L931	ENST00000322810.4	37	c.2793	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		145004627	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	1.000	T
POLE	5426	genome.wustl.edu	37	12	133253176	133253176	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr12:133253176C>T	ENST00000320574.5	-	9	908	c.865G>A	c.(865-867)Gag>Aag	p.E289K	POLE_ENST00000535270.1_Missense_Mutation_p.E262K	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	289					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGGTCTGTCTCAGCATCAGGA	0.498								DNA polymerases (catalytic subunits)																																									0													116.0	100.0	105.0					12																	133253176		2203	4300	6503	SO:0001583	missense	5426				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.865G>A	12.37:g.133253176C>T	ENSP00000322570:p.Glu289Lys		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.E300K	ENST00000320574.5	37	c.898	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195886	0.78902	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.44881	2.92;2.92;2.92;0.91	5.49	5.49	0.81192	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	L	0.46614	1.455	0.80722	D	1	B;B	0.32324	0.364;0.255	B;B	0.39935	0.209;0.314	T	0.21586	-1.0241	10	0.21014	T	0.42	.	19.3785	0.94521	0.0:1.0:0.0:0.0	.	262;289	F5H1D6;Q07864	.;DPOE1_HUMAN	K	289;300;262;69;224	ENSP00000322570:E289K;ENSP00000406383:E300K;ENSP00000445753:E262K;ENSP00000442519:E69K	ENSP00000322570:E289K	E	-	1	0	POLE	131763249	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.997000	0.70646	2.566000	0.86566	0.561000	0.74099	GAG	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B		0.498	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	C	NM_006231		133253176	-1	no_errors	ENST00000455752	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRF	5792	genome.wustl.edu	37	1	44088789	44088789	+	3'UTR	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:44088789G>A	ENST00000359947.4	+	0	7179				PTPRF_ENST00000372413.3_3'UTR|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACACCCCATGCACCTCAGGG	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	5792			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.*1115G>A	1.37:g.44088789G>A			D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	RNA	SNP	-	NULL	ENST00000359947.4	37	NULL	CCDS489.2	1																																																																																			PTPRF	-	-		0.607	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	G			44088789	+1	no_errors	ENST00000496447	ensembl	human	known	70_37	rna	SNP	0.000	A
RGR	5995	genome.wustl.edu	37	10	86010161	86010161	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr10:86010161C>T	ENST00000372092.3	+	4	346	c.341C>T	c.(340-342)tCt>tTt	p.S114F	RGR_ENST00000359452.4_Intron|RGR_ENST00000358110.5_Intron			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGCCATCGGTCTCATCATTTT	0.537																																					NSCLC(15;204 545 5889 6385 32445)												0																																										SO:0001583	missense	5995			BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000372092.3:c.341C>T	10.37:g.86010161C>T	ENSP00000361164:p.Ser114Phe		A6NKK7|Q96FC5	Missense_Mutation	SNP	NULL	p.S114F	ENST00000372092.3	37	c.341		10	.	.	.	.	.	.	.	.	.	.	C	8.127	0.782191	0.16189	.	.	ENSG00000148604	ENST00000372092	.	.	.	2.41	1.5	0.22942	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.28170	-1.0052	7	0.87932	D	0	.	5.0358	0.14434	0.0:0.8277:0.0:0.1723	.	114	Q96HT6	.	F	114	.	ENSP00000361164:S114F	S	+	2	0	RGR	86000141	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.118000	0.10692	0.588000	0.29660	-0.339000	0.08088	TCT	RGR	-	NULL		0.537	RGR-002	KNOWN	basic	protein_coding	RGR	HGNC	protein_coding	OTTHUMT00000049117.1	C	NM_002921		86010161	+1	no_errors	ENST00000372092	ensembl	human	known	70_37	missense	SNP	0.002	T
RNF26	79102	genome.wustl.edu	37	11	119206814	119206814	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr11:119206814C>T	ENST00000311413.4	+	1	1578	c.982C>T	c.(982-984)Ctt>Ttt	p.L328F	C1QTNF5_ENST00000525657.1_5'Flank|RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	328						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		ACAGGACACTCTTCCTGAAGC	0.622																																																	0													56.0	64.0	61.0					11																	119206814		2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.982C>T	11.37:g.119206814C>T	ENSP00000312439:p.Leu328Phe		Q542Y8	Missense_Mutation	SNP	pfscan_Znf_RING	p.L328F	ENST00000311413.4	37	c.982	CCDS8419.1	11	.	.	.	.	.	.	.	.	.	.	C	0.179	-1.063615	0.01934	.	.	ENSG00000173456	ENST00000311413	T	0.32272	1.46	4.39	1.43	0.22495	.	1.546650	0.04335	N	0.353135	T	0.19327	0.0464	N	0.19112	0.55	0.09310	N	1	P	0.43094	0.799	B	0.41374	0.355	T	0.12192	-1.0557	10	0.09843	T	0.71	0.9851	5.475	0.16690	0.2495:0.5545:0.1216:0.0744	.	328	Q9BY78	RNF26_HUMAN	F	328	ENSP00000312439:L328F	ENSP00000312439:L328F	L	+	1	0	RNF26	118712024	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.062000	0.14389	-0.061000	0.13110	-4.223000	0.00009	CTT	RNF26	-	NULL		0.622	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF26	HGNC	protein_coding	OTTHUMT00000388220.1	C	NM_032015		119206814	+1	no_errors	ENST00000311413	ensembl	human	known	70_37	missense	SNP	0.000	T
RPS28	6234	genome.wustl.edu	37	19	8386420	8386420	+	Silent	SNP	C	C	T	rs534143211		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:8386420C>T	ENST00000600659.2	+	1	37	c.6C>T	c.(4-6)gaC>gaT	p.D2D	NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	2					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										CCATCATGGACACCAGCCGTG	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11901	0.0		0.0	False		,,,				2504	0.0																0													5.0	6.0	6.0					19																	8386420		1921	4005	5926	SO:0001819	synonymous_variant	6234			D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.6C>T	19.37:g.8386420C>T			P25112	Silent	SNP	pfam_Ribosomal_S28e,superfamily_NA-bd_OB-fold-like	p.D2	ENST00000600659.2	37	c.6	CCDS45953.1	19																																																																																			RPS28	-	pfam_Ribosomal_S28e		0.657	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS28	HGNC	protein_coding	OTTHUMT00000461377.3	C	NM_001031		8386420	+1	no_errors	ENST00000600659	ensembl	human	known	70_37	silent	SNP	0.941	T
SAT1	6303	genome.wustl.edu	37	X	23803877	23803878	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:23803877_23803878insA	ENST00000379270.4	+	6	599_600	c.420_421insA	c.(421-423)aaafs	p.K141fs	RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_Frame_Shift_Ins_p.K113fs|SAT1_ENST00000489394.1_3'UTR	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			breast(1)|endometrium(3)|kidney(3)|lung(3)	10						TCAACTTCTATAAAAGAAGAGG	0.446																																																	0																																										SO:0001589	frameshift_variant	6303			M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.424dupA	X.37:g.23803881_23803881dupA	ENSP00000368572:p.Lys141fs		A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Ins	INS	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.R141fs	ENST00000379270.4	37	c.420_421	CCDS14207.1	X																																																																																			SAT1	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.446	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAT1	HGNC	protein_coding	OTTHUMT00000056056.1	-	NM_002970		23803878	+1	no_errors	ENST00000379270	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
SIX6	4990	genome.wustl.edu	37	14	60976683	60976683	+	Silent	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:60976683G>A	ENST00000327720.5	+	1	1015	c.567G>A	c.(565-567)aaG>aaA	p.K189K		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	189					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CTGCAGCCAAGAACAGGTCGG	0.642																																																	0													12.0	13.0	13.0					14																	60976683		2196	4291	6487	SO:0001819	synonymous_variant	4990			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.567G>A	14.37:g.60976683G>A			Q6NT42|Q9P1X8	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.K189	ENST00000327720.5	37	c.567	CCDS9747.1	14																																																																																			SIX6	-	superfamily_Homeodomain-like,smart_Homeodomain		0.642	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	G			60976683	+1	no_errors	ENST00000327720	ensembl	human	known	70_37	silent	SNP	1.000	A
SERPINA6	866	genome.wustl.edu	37	14	94780691	94780691	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:94780691C>T	ENST00000341584.3	-	2	441	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	99					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCAGACCTCTCAGTGAGGTTG	0.562																																																	0													54.0	55.0	55.0					14																	94780691		2203	4300	6503	SO:0001583	missense	866			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.295G>A	14.37:g.94780691C>T	ENSP00000342850:p.Glu99Lys		A8K456|Q7Z2Q9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2	p.E99K	ENST00000341584.3	37	c.295	CCDS9924.1	14	.	.	.	.	.	.	.	.	.	.	C	7.408	0.634084	0.14322	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.87887	-2.31;-1.69	5.07	-0.434	0.12283	Serpin domain (3);	0.548995	0.17011	N	0.190501	T	0.76428	0.3986	L	0.33624	1.015	0.09310	N	1	B	0.21147	0.052	B	0.20384	0.029	T	0.61893	-0.6969	10	0.38643	T	0.18	.	5.8871	0.18888	0.0:0.349:0.3601:0.2909	.	99	P08185	CBG_HUMAN	K	99	ENSP00000342850:E99K;ENSP00000452018:E99K	ENSP00000342850:E99K	E	-	1	0	SERPINA6	93850444	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-0.052000	0.11865	-0.259000	0.09432	0.563000	0.77884	GAG	SERPINA6	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.562	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA6	HGNC	protein_coding	OTTHUMT00000413065.1	C	NM_001756		94780691	-1	no_errors	ENST00000341584	ensembl	human	known	70_37	missense	SNP	0.001	T
SLC35G6	643664	genome.wustl.edu	37	17	7386113	7386113	+	Silent	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:7386113G>A	ENST00000412468.2	+	2	925	c.810G>A	c.(808-810)gtG>gtA	p.V270V	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	270						integral component of membrane (GO:0016021)											TCACATGTGTGAGCTATGCGG	0.592																																																	0													135.0	111.0	119.0					17																	7386113		2203	4300	6503	SO:0001819	synonymous_variant	643664				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.810G>A	17.37:g.7386113G>A				Silent	SNP	pfam_DMT	p.V270	ENST00000412468.2	37	c.810	CCDS45603.1	17																																																																																			SLC35G6	-	pfam_DMT		0.592	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G6	HGNC	protein_coding		G	NM_001102614		7386113	+1	no_errors	ENST00000412468	ensembl	human	known	70_37	silent	SNP	0.996	A
SMARCA4	6597	genome.wustl.edu	37	19	11123682	11123682	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:11123682G>C	ENST00000429416.3	+	17	2613	c.2332G>C	c.(2332-2334)Gcc>Ccc	p.A778P	SMARCA4_ENST00000450717.3_Missense_Mutation_p.A778P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A778P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A778P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A778P|SMARCA4_ENST00000358026.2_Missense_Mutation_p.A778P|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A778P|RN7SL192P_ENST00000584303.1_RNA|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A778P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A778P	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	778	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGCATCCTGGCCGACGAGAT	0.587			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											156.0	107.0	123.0					19																	11123682		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2332G>C	19.37:g.11123682G>C	ENSP00000395654:p.Ala778Pro		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.A778P	ENST00000429416.3	37	c.2332	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	G	28.8	4.947710	0.92593	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	4.73	4.73	0.59995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98918	0.9633	H	0.99682	4.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98997	1.0810	10	0.87932	D	0	-24.9649	16.6409	0.85098	0.0:0.0:1.0:0.0	.	778;778;778;778;778;778;778	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	P	778;778;842;778;778;778;778;778	ENSP00000395654:A778P;ENSP00000350720:A778P;ENSP00000343896:A778P;ENSP00000445036:A778P;ENSP00000392837:A778P;ENSP00000397783:A778P;ENSP00000414727:A778P	ENSP00000343896:A778P	A	+	1	0	SMARCA4	10984682	1.000000	0.71417	0.997000	0.53966	0.826000	0.46750	9.657000	0.98554	2.456000	0.83038	0.655000	0.94253	GCC	SMARCA4	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.587	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	G	NM_003072		11123682	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	C
SORBS1	10580	genome.wustl.edu	37	10	97192313	97192314	+	Frame_Shift_Ins	INS	-	-	GATTTTT			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr10:97192313_97192314insGATTTTT	ENST00000361941.3	-	4	218_219	c.192_193insAAAAATC	c.(190-195)atctgcfs	p.C65fs	SORBS1_ENST00000607232.1_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000393949.1_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371227.4_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000306402.6_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000277982.5_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371241.1_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000354106.3_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000353505.5_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371245.3_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371247.2_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371239.1_Frame_Shift_Ins_p.C33fs|SORBS1_ENST00000347291.4_Frame_Shift_Ins_p.C65fs|SORBS1_ENST00000371246.2_Frame_Shift_Ins_p.C65fs	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TTCCCAGTGCAGATTTTTGTAA	0.49																																																	0																																										SO:0001589	frameshift_variant	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.186_192dupAAAAATC	10.37:g.97192314_97192320dupGATTTTT	ENSP00000355136:p.Cys65fs			Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.C64fs	ENST00000361941.3	37	c.193_192	CCDS31255.1	10																																																																																			SORBS1	-	NULL		0.490	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	-			97192314	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GATTTTT
STON2	85439	genome.wustl.edu	37	14	81743548	81743548	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr14:81743548C>T	ENST00000267540.2	-	4	2307	c.2107G>A	c.(2107-2109)Gtg>Atg	p.V703M	STON2_ENST00000555447.1_Missense_Mutation_p.V703M|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	703	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGCTCTGCACCTCCACCTCT	0.562																																																	0													120.0	118.0	118.0					14																	81743548		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2107G>A	14.37:g.81743548C>T	ENSP00000267540:p.Val703Met		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.V703M	ENST00000267540.2	37	c.2107	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543661	0.27563	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.21932	1.98;1.98	6.06	5.13	0.70059	Clathrin adaptor, mu subunit, C-terminal (3);	0.219333	0.38897	N	0.001538	T	0.17831	0.0428	N	0.19112	0.55	0.41020	D	0.985078	P;P	0.39696	0.683;0.633	B;B	0.39771	0.309;0.276	T	0.02698	-1.1122	10	0.42905	T	0.14	-21.0631	18.0798	0.89439	0.0:0.7925:0.2075:0.0	.	703;703	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	703;715;703	ENSP00000450857:V703M;ENSP00000267540:V703M	ENSP00000267540:V703M	V	-	1	0	STON2	80813301	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.742000	0.38248	2.879000	0.98667	0.650000	0.86243	GTG	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C		0.562	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	C	NM_033104		81743548	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	missense	SNP	1.000	T
STXBP4	252983	genome.wustl.edu	37	17	53111588	53111588	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:53111588G>A	ENST00000376352.2	+	10	1030	c.823G>A	c.(823-825)Gca>Aca	p.A275T	STXBP4_ENST00000299341.4_Missense_Mutation_p.A200T|STXBP4_ENST00000434978.2_Missense_Mutation_p.A275T|STXBP4_ENST00000398391.2_Missense_Mutation_p.A200T|STXBP4_ENST00000405898.1_Missense_Mutation_p.A275T	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	275					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAATGTTGGTGCACATGAAAT	0.338																																																	0													184.0	181.0	182.0					17																	53111588		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.823G>A	17.37:g.53111588G>A	ENSP00000365530:p.Ala275Thr		Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.A275T	ENST00000376352.2	37	c.823	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473400	0.26423	.	.	ENSG00000166263	ENST00000376352;ENST00000299341;ENST00000405898;ENST00000434978;ENST00000398391	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.61	2.16	0.27623	.	0.914079	0.09508	N	0.792665	T	0.38108	0.1028	M	0.65975	2.015	0.09310	N	1	B;B;B	0.21147	0.002;0.052;0.001	B;B;B	0.19148	0.003;0.024;0.002	T	0.34850	-0.9812	10	0.19147	T	0.46	-0.6289	7.1321	0.25507	0.3263:0.0:0.6737:0.0	.	275;200;275	E7EPP7;Q6ZWJ1-2;Q6ZWJ1	.;.;STXB4_HUMAN	T	275;200;275;275;200	ENSP00000365530:A275T;ENSP00000299341:A200T;ENSP00000385944:A275T;ENSP00000391087:A275T;ENSP00000381427:A200T	ENSP00000299341:A200T	A	+	1	0	STXBP4	50466587	0.185000	0.23213	0.144000	0.22314	0.949000	0.60115	1.948000	0.40303	0.169000	0.19679	0.561000	0.74099	GCA	STXBP4	-	NULL		0.338	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53111588	+1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	0.228	A
TCAM1P	146771	genome.wustl.edu	37	17	61937642	61937642	+	RNA	SNP	C	C	G			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr17:61937642C>G	ENST00000478379.1	+	0	1138					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		GAACATGAGTCTTCATCTTTC	0.498																																																	0																																												146771			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61937642C>G				RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-		0.498	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	C			61937642	+1	no_errors	ENST00000478379	ensembl	human	known	70_37	rna	SNP	0.001	G
TMEM70	54968	genome.wustl.edu	37	8	74893836	74893836	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr8:74893836C>T	ENST00000312184.5	+	3	836	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	Y_RNA_ENST00000365350.1_RNA	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	255					mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			TGAAGAGAAACGGCATAAAGA	0.333																																																	0													41.0	46.0	44.0					8																	74893836		2192	4299	6491	SO:0001583	missense	54968			BC002748	CCDS6215.1, CCDS47876.1	8q21.11	2013-05-23				ENSG00000175606			26050	protein-coding gene	gene with protein product		612418				21945727, 22986587	Standard	NM_017866		Approved	FLJ20533	uc003yab.3	Q9BUB7		ENST00000312184.5:c.763C>T	8.37:g.74893836C>T	ENSP00000312599:p.Arg255Trp		E9PDY9|Q9NWY5	Missense_Mutation	SNP	pfam_DUF1301_TMEM70	p.R255W	ENST00000312184.5	37	c.763	CCDS6215.1	8	.	.	.	.	.	.	.	.	.	.	C	8.903	0.956766	0.18507	.	.	ENSG00000175606	ENST00000312184	T	0.37752	1.18	5.25	3.25	0.37280	.	0.941979	0.08803	N	0.891516	T	0.15176	0.0366	N	0.08118	0	0.19300	N	0.999971	P	0.39116	0.66	B	0.32805	0.153	T	0.06427	-1.0827	9	.	.	.	-0.1884	3.6235	0.08104	0.0:0.5592:0.2741:0.1667	.	255	Q9BUB7	TMM70_HUMAN	W	255	ENSP00000312599:R255W	.	R	+	1	2	TMEM70	75056390	0.475000	0.25894	0.648000	0.29521	0.022000	0.10575	0.118000	0.15605	1.388000	0.46506	0.563000	0.77884	CGG	TMEM70	-	NULL		0.333	TMEM70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM70	HGNC	protein_coding	OTTHUMT00000379028.1	C	NM_017866		74893836	+1	no_errors	ENST00000312184	ensembl	human	known	70_37	missense	SNP	0.764	T
TTN	7273	genome.wustl.edu	37	2	179472653	179472653	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr2:179472653C>T	ENST00000591111.1	-	226	48162	c.47938G>A	c.(47938-47940)Gag>Aag	p.E15980K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15053K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8681K|TTN_ENST00000460472.2_Missense_Mutation_p.E8556K|TTN_ENST00000342175.6_Missense_Mutation_p.E8748K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17621K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15980	Fibronectin type-III 16. {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)			ATCATCTTCTCTGTGCAGCGT	0.493																																																	0													147.0	144.0	145.0					2																	179472653		2021	4186	6207	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47938G>A	2.37:g.179472653C>T	ENSP00000465570:p.Glu15980Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E15053K	ENST00000591111.1	37	c.45157		2	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208148	0.58343	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	6.05	6.05	0.98169	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54029	0.1833	L	0.31578	0.945	0.80722	D	1	P;P;P;P	0.47484	0.896;0.896;0.896;0.896	P;P;P;P	0.48368	0.575;0.575;0.575;0.575	T	0.55891	-0.8069	9	0.87932	D	0	.	20.6087	0.99469	0.0:1.0:0.0:0.0	.	8556;8681;8748;15980	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	15053;8556;8748;8681;8556	ENSP00000343764:E15053K;ENSP00000434586:E8556K;ENSP00000340554:E8748K;ENSP00000352154:E8681K	ENSP00000340554:E8748K	E	-	1	0	TTN	179180898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.767000	0.85331	2.866000	0.98385	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179472653	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216390881	216390881	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:216390881C>A	ENST00000307340.3	-	15	3391	c.3005G>T	c.(3004-3006)tGt>tTt	p.C1002F	USH2A_ENST00000366943.2_Missense_Mutation_p.C1002F|USH2A_ENST00000366942.3_Missense_Mutation_p.C1002F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1002	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGACAATTACAAGGCTGACA	0.373										HNSCC(13;0.011)																																							0													66.0	62.0	63.0					1																	216390881		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3005G>T	1.37:g.216390881C>A	ENSP00000305941:p.Cys1002Phe		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.C1002F	ENST00000307340.3	37	c.3005	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135723	0.77662	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	D;D;D	0.94330	-3.4;-3.4;-3.4	5.22	5.22	0.72569	EGF-like, laminin (3);	0.000000	0.44902	U	0.000420	D	0.98264	0.9425	H	0.98629	4.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99811	1.1041	10	0.87932	D	0	.	18.78	0.91928	0.0:1.0:0.0:0.0	.	1002;1002	O75445-2;O75445	.;USH2A_HUMAN	F	1002	ENSP00000305941:C1002F;ENSP00000355910:C1002F;ENSP00000355909:C1002F	ENSP00000305941:C1002F	C	-	2	0	USH2A	214457504	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.846000	0.62860	2.443000	0.82685	0.591000	0.81541	TGT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216390881	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	A
USP31	57478	genome.wustl.edu	37	16	23079813	23079813	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr16:23079813G>A	ENST00000219689.7	-	16	3612	c.3613C>T	c.(3613-3615)Cgc>Tgc	p.R1205C	USP31_ENST00000567975.1_Missense_Mutation_p.R498C	NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGGGGGAGCGCAGGCTGGCC	0.617																																																	0													67.0	72.0	71.0					16																	23079813		2197	4299	6496	SO:0001583	missense	57478			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.3613C>T	16.37:g.23079813G>A	ENSP00000219689:p.Arg1205Cys		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R1205C	ENST00000219689.7	37	c.3613	CCDS10607.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.49|19.49	3.836883|3.836883	0.71373|0.71373	.|.	.|.	ENSG00000103404|ENSG00000103404	ENST00000381162|ENST00000219689	.|T	.|0.26223	.|1.75	5.8|5.8	4.85|4.85	0.62838|0.62838	.|.	.|0.716733	.|0.13367	.|N	.|0.393246	T|T	0.49729|0.49729	0.1574|0.1574	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|P;D	.|0.71414	.|0.877;0.973	T|T	0.46748|0.46748	-0.9169|-0.9169	6|10	0.87932|0.87932	D|D	0|0	-7.0903|-7.0903	13.9252|13.9252	0.63958|0.63958	0.0723:0.0:0.9277:0.0|0.0723:0.0:0.9277:0.0	.|.	.|1205;498	.|Q70CQ4;B3KS48	.|UBP31_HUMAN;.	V|C	427|1205	.|ENSP00000219689:R1205C	ENSP00000370554:A427V|ENSP00000219689:R1205C	A|R	-|-	2|1	0|0	USP31|USP31	22987314|22987314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.288000|4.288000	0.59007|0.59007	1.459000|1.459000	0.47892|0.47892	0.655000|0.655000	0.94253|0.94253	GCG|CGC	USP31	-	NULL		0.617	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	G	NM_020718		23079813	-1	no_errors	ENST00000219689	ensembl	human	known	70_37	missense	SNP	1.000	A
USP48	84196	genome.wustl.edu	37	1	22033386	22033386	+	Intron	DEL	A	A	-	rs532575338		TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr1:22033386delA	ENST00000308271.9	-	16	2612				USP48_ENST00000529637.1_Frame_Shift_Del_p.S659fs|USP48_ENST00000374732.3_Intron|USP48_ENST00000400301.1_Intron	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATATATTTGGAAAAAAAAAAA	0.318																																																	0										84,768,607,2779		2,14,5,61,20,62,652,9,522,772						-8.9	0.0		dbSNP_132	28	46,923,1465,5796		1,1,2,41,3,30,886,34,1365,1752	no	intron	USP48	NM_032236.5		3,15,7,102,23,92,1538,43,1887,2524	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		29.5747,34.4266,31.2239				130,1691,2072,8575				SO:0001627	intron_variant	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1964-25T>-	1.37:g.22033386delA			B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Frame_Shift_Del	DEL	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.S659fs	ENST00000308271.9	37	c.1975	CCDS30623.1	1																																																																																			USP48	-	NULL		0.318	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	A	NM_032236		22033386	-1	no_errors	ENST00000529637	ensembl	human	novel	70_37	frame_shift_del	DEL	0.000	-
VSIG4	11326	genome.wustl.edu	37	X	65253527	65253527	+	Silent	SNP	G	G	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:65253527G>T	ENST00000374737.4	-	2	309	c.201C>A	c.(199-201)atC>atA	p.I67I	VSIG4_ENST00000412866.2_Silent_p.I67I|VSIG4_ENST00000455586.2_Silent_p.I67I	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	67	Ig-like 1.				complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGTAGAAAGATGGTGACAG	0.537																																																	0													122.0	89.0	100.0					X																	65253527		2203	4300	6503	SO:0001819	synonymous_variant	11326			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.201C>A	X.37:g.65253527G>T			Q6UXI4	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like	p.I67	ENST00000374737.4	37	c.201	CCDS14383.1	X																																																																																			VSIG4	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.537	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	G	NM_007268		65253527	-1	no_errors	ENST00000374737	ensembl	human	known	70_37	silent	SNP	0.988	T
WASH6P	653440	genome.wustl.edu	37	X	155254902	155254902	+	RNA	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chrX:155254902C>T	ENST00000461007.1	+	0	3818				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCTTTTCCCTCCAGGCATCTC	0.602																																																	0																																												653440			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254902C>T			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			WASH6P	-	-		0.602	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	C	NG_008380		155254902	+1	no_errors	ENST00000461007	ensembl	human	known	70_37	rna	SNP	0.602	T
WDR87	83889	genome.wustl.edu	37	19	38385384	38385384	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr19:38385384C>T	ENST00000303868.5	-	4	1066	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	WDR87_ENST00000447313.2_Missense_Mutation_p.R320Q	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	281										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AAGCTCTAGCCGCCGAAGCAG	0.547																																																	0													30.0	28.0	28.0					19																	38385384		692	1591	2283	SO:0001583	missense	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.842G>A	19.37:g.38385384C>T	ENSP00000368025:p.Arg281Gln		Q9BWV9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R320Q	ENST00000303868.5	37	c.959	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661919	0.14645	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.74106	-0.81;-0.81	6.06	-3.56	0.04626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.938351	0.08936	N	0.872375	T	0.54447	0.1859	L	0.28694	0.88	0.09310	N	1	B;B	0.29037	0.231;0.231	B;B	0.17722	0.019;0.019	T	0.39333	-0.9619	10	0.09590	T	0.72	-3.9845	11.4105	0.49923	0.0:0.4127:0.0:0.5873	.	281;320	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	Q	320;281	ENSP00000405012:R320Q;ENSP00000368025:R281Q	ENSP00000368025:R281Q	R	-	2	0	WDR87	43077224	0.038000	0.19896	0.243000	0.24186	0.570000	0.35934	-0.196000	0.09532	-0.325000	0.08577	-0.152000	0.13540	CGG	WDR87	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.547	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	C	XM_940478		38385384	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	missense	SNP	0.004	T
ZSCAN9	7746	genome.wustl.edu	37	6	28195572	28195572	+	Silent	SNP	C	C	T			TCGA-EA-A44S-01A-12D-A26G-09	TCGA-EA-A44S-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c6a1b4c-b430-4670-aa45-87deef906452	f918a9be-5c0e-413b-8a6e-c307e8b2ca48	g.chr6:28195572C>T	ENST00000252207.5	+	3	673	c.525C>T	c.(523-525)ctC>ctT	p.L175L	ZSCAN9_ENST00000531981.1_3'UTR|ZSCAN9_ENST00000531979.1_Silent_p.L175L|ZSCAN9_ENST00000425468.2_Silent_p.L175L|ZSCAN9_ENST00000527436.1_Silent_p.L175L	NM_006299.4	NP_006290.1	O15535	ZSC9_HUMAN	zinc finger and SCAN domain containing 9	175					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)										AGCCACAGCTCACATGTGACT	0.498																																																	0													64.0	59.0	61.0					6																	28195572		2203	4300	6503	SO:0001819	synonymous_variant	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.525C>T	6.37:g.28195572C>T			B4E1W6|E7EVQ2|Q2TTR1	Silent	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.L175	ENST00000252207.5	37	c.525	CCDS4646.1	6																																																																																			ZNF193	-	NULL		0.498	ZSCAN9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF193	HGNC	protein_coding	OTTHUMT00000040183.2	C	NM_006299		28195572	+1	no_errors	ENST00000252207	ensembl	human	known	70_37	silent	SNP	0.029	T
