#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
ABCC4	10257	genome.wustl.edu	37	13	95815421	95815421	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr13:95815421C>T	ENST00000376887.4	-	18	2377	c.2263G>A	c.(2263-2265)Gta>Ata	p.V755I	ABCC4_ENST00000431522.1_Missense_Mutation_p.V755I|ABCC4_ENST00000412704.1_Missense_Mutation_p.V708I|ABCC4_ENST00000536256.1_Missense_Mutation_p.V680I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	755	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	TTCTCGGTTACATTTCCTCCT	0.343																																																	0													208.0	212.0	211.0					13																	95815421		2202	4300	6502	SO:0001583	missense	10257			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2263G>A	13.37:g.95815421C>T	ENSP00000366084:p.Val755Ile		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.V755I	ENST00000376887.4	37	c.2263	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	C	0.896	-0.723844	0.03158	.	.	ENSG00000125257	ENST00000412704;ENST00000376887;ENST00000536256;ENST00000431522	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.61	3.86	0.44501	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.775970	0.12672	N	0.448697	T	0.79782	0.4505	N	0.05259	-0.085	0.21445	N	0.999683	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.15484	0.013;0.005;0.008;0.008	T	0.66929	-0.5799	10	0.35671	T	0.21	.	9.8178	0.40862	0.0:0.7253:0.0:0.2747	.	680;708;755;755	B7Z3Q7;O15439-2;Q8IVZ4;O15439	.;.;.;MRP4_HUMAN	I	708;755;680;755	ENSP00000388657:V708I;ENSP00000366084:V755I;ENSP00000442024:V680I;ENSP00000398562:V755I	ENSP00000366084:V755I	V	-	1	0	ABCC4	94613422	0.400000	0.25295	0.196000	0.23383	0.005000	0.04900	0.521000	0.22893	0.692000	0.31613	0.655000	0.94253	GTA	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.343	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	C	NM_005845		95815421	-1	no_errors	ENST00000376887	ensembl	human	known	70_37	missense	SNP	0.950	T
ACTB	60	genome.wustl.edu	37	7	5567197	5567197	+	3'UTR	SNP	C	C	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr7:5567197C>G	ENST00000331789.5	-	0	1501				ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGGGATGCTCGCTCCAACCG	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	60			M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.*182G>C	7.37:g.5567197C>G			A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	RNA	SNP	-	NULL	ENST00000331789.5	37	NULL	CCDS5341.1	7																																																																																			ACTB	-	-		0.373	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	HGNC	protein_coding	OTTHUMT00000059589.4	C	NM_001101		5567197	-1	no_errors	ENST00000464611	ensembl	human	known	70_37	rna	SNP	0.162	G
AZIN2	113451	genome.wustl.edu	37	1	33567487	33567487	+	Intron	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:33567487C>T	ENST00000294517.6	+	10	1616				ADC_ENST00000484656.1_Intron|ADC_ENST00000373440.1_Silent_p.A203A|ADC_ENST00000373443.3_Intron|ADC_ENST00000398167.1_Intron|ADC_ENST00000373441.1_Intron|ADC_ENST00000358680.3_Silent_p.A203A	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN							agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	atttcattgccgtgtagcgct	0.433																																																	0													56.0	49.0	51.0					1																	33567487		876	1991	2867	SO:0001627	intron_variant	0																														ENST00000294517.6:c.1029+3707C>T	1.37:g.33567487C>T			B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Silent	SNP	pfam_De-COase2_N,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase	p.A203	ENST00000294517.6	37	c.609	CCDS375.1	1																																																																																			ADC	-	NULL		0.433	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	C			33567487	+1	no_errors	ENST00000358680	ensembl	human	known	70_37	silent	SNP	0.002	T
AKNA	80709	genome.wustl.edu	37	9	117099458	117099458	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr9:117099458T>C	ENST00000307564.4	-	22	4357	c.4196A>G	c.(4195-4197)aAc>aGc	p.N1399S	AKNA_ENST00000374075.5_Missense_Mutation_p.N1318S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Missense_Mutation_p.N344S|AKNA_ENST00000223791.3_Missense_Mutation_p.N859S|AKNA_ENST00000374088.3_Missense_Mutation_p.N1399S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1399					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGGGCCTTGTTGAGCTCCTC	0.687																																																	0													35.0	37.0	36.0					9																	117099458		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.4196A>G	9.37:g.117099458T>C	ENSP00000303769:p.Asn1399Ser		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.N1399S	ENST00000307564.4	37	c.4196	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	T	3.242	-0.155121	0.06544	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.17691	2.78;2.26;2.78;2.57;2.78	5.13	-2.18	0.07037	.	.	.	.	.	T	0.07773	0.0195	N	0.14661	0.345	0.09310	N	1	B;B	0.17038	0.012;0.02	B;B	0.15484	0.006;0.013	T	0.43015	-0.9417	9	0.07175	T	0.84	1.4529	9.9404	0.41576	0.0:0.4689:0.0:0.5311	.	1399;1318	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	S	1399;344;1399;859;1318	ENSP00000303769:N1399S;ENSP00000363192:N344S;ENSP00000363201:N1399S;ENSP00000223791:N859S;ENSP00000363188:N1318S	ENSP00000223791:N859S	N	-	2	0	AKNA	116139279	0.997000	0.39634	0.005000	0.12908	0.600000	0.36913	0.695000	0.25527	-0.274000	0.09232	-0.371000	0.07208	AAC	AKNA	-	NULL		0.687	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	T	NM_030767		117099458	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.002	C
ANK2	287	genome.wustl.edu	37	4	114290917	114290917	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr4:114290917C>A	ENST00000357077.4	+	43	11619	c.11566C>A	c.(11566-11568)Cct>Act	p.P3856T	ANK2_ENST00000506722.1_Missense_Mutation_p.P1762T|ANK2_ENST00000510275.2_Missense_Mutation_p.P423T|ANK2_ENST00000509550.1_Missense_Mutation_p.P947T|ANK2_ENST00000264366.6_Missense_Mutation_p.P3823T|ANK2_ENST00000394537.3_Missense_Mutation_p.P1771T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3856					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGATAACCAGCCTGAGACCTG	0.498																																																	0													90.0	82.0	85.0					4																	114290917		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11566C>A	4.37:g.114290917C>A	ENSP00000349588:p.Pro3856Thr		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.P3856T	ENST00000357077.4	37	c.11566	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.369|7.369	0.626360|0.626360	0.14257|0.14257	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.96104	.|-0.21;-0.19;-0.27;-0.28;-0.97;-1.99;-3.91	5.63|5.63	1.91|1.91	0.25777|0.25777	.|.	.|0.355038	.|0.23926	.|N	.|0.043200	D|D	0.92596|0.92596	0.7648|0.7648	M|M	0.65975|0.65975	2.015|2.015	0.25793|0.25793	N|N	0.984597|0.984597	.|B;B;B;B;B;B	.|0.26845	.|0.02;0.161;0.012;0.034;0.128;0.008	.|B;B;B;B;B;B	.|0.30495	.|0.01;0.116;0.014;0.04;0.068;0.029	D|D	0.85094|0.85094	0.0953|0.0953	5|10	.|0.44086	.|T	.|0.13	.|.	4.4743|4.4743	0.11727|0.11727	0.1095:0.6002:0.106:0.1843|0.1095:0.6002:0.106:0.1843	.|.	.|947;806;772;1771;3856;1762	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	D|T	772|1762;806;1771;3856;3823;1762;947;423;866	.|ENSP00000421067:P1762T;ENSP00000378044:P1771T;ENSP00000349588:P3856T;ENSP00000264366:P3823T;ENSP00000426944:P947T;ENSP00000421023:P423T;ENSP00000422498:P866T	.|ENSP00000264366:P3823T	A|P	+|+	2|1	0|0	ANK2|ANK2	114510366|114510366	0.811000|0.811000	0.29063|0.29063	0.540000|0.540000	0.28089|0.28089	0.053000|0.053000	0.15095|0.15095	1.083000|1.083000	0.30815|0.30815	0.103000|0.103000	0.17682|0.17682	-0.157000|-0.157000	0.13467|0.13467	GCC|CCT	ANK2	-	NULL		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114290917	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.780	A
ARID1A	8289	genome.wustl.edu	37	1	27057742	27057742	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:27057742delC	ENST00000324856.7	+	3	1821	c.1450delC	c.(1450-1452)cccfs	p.P484fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P484fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P101fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	484					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCAGCCACCCTACTCCCA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													335.0	311.0	319.0					1																	27057742		2203	4300	6503	SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1450delC	1.37:g.27057742delC	ENSP00000320485:p.Pro484fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Y485fs	ENST00000324856.7	37	c.1450	CCDS285.1	1																																																																																			ARID1A	-	NULL		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057742	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	frame_shift_del	DEL	0.694	-
ARID1A	8289	genome.wustl.edu	37	1	27057820	27057820	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:27057820C>T	ENST00000324856.7	+	3	1899	c.1528C>T	c.(1528-1530)Cag>Tag	p.Q510*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q510*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q127*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	510					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCAACCACCACAGCTCCAGTC	0.622			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													337.0	306.0	317.0					1																	27057820		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1528C>T	1.37:g.27057820C>T	ENSP00000320485:p.Gln510*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q510*	ENST00000324856.7	37	c.1528	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123215	0.77436	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.33	5.33	0.75918	.	0.317981	0.34314	N	0.004069	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-6.5036	19.2116	0.93757	0.0:1.0:0.0:0.0	.	.	.	.	X	510;510;127	.	ENSP00000320485:Q510X	Q	+	1	0	ARID1A	26930407	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.245000	0.58734	2.766000	0.95052	0.655000	0.94253	CAG	ARID1A	-	NULL		0.622	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057820	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
C10orf90	118611	genome.wustl.edu	37	10	128335207	128335207	+	Splice_Site	SNP	C	C	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr10:128335207C>G	ENST00000544758.1	-	2	270		c.e2-1					Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90						mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GACTGTGGATCTAGAAAACAA	0.378																																																	0																																										SO:0001630	splice_region_variant	118611			BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000544758.1:c.241-1G>C	10.37:g.128335207C>G			B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Splice_Site	SNP	-	e2-1	ENST00000544758.1	37	c.241-1		10	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132312	0.56828	.	.	ENSG00000154493	ENST00000544758	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2767	0.66184	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf90	128325197	1.000000	0.71417	0.965000	0.40720	0.806000	0.45545	3.849000	0.55910	2.735000	0.93741	0.655000	0.94253	.	C10orf90	-	-		0.378	C10orf90-204	KNOWN	basic	protein_coding	C10orf90	HGNC	protein_coding		C	NM_001004298	Intron	128335207	-1	no_errors	ENST00000544758	ensembl	human	known	70_37	splice_site	SNP	0.998	G
CD1E	913	genome.wustl.edu	37	1	158325832	158325832	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:158325832G>T	ENST00000368167.3	+	4	1080	c.841G>T	c.(841-843)Gct>Tct	p.A281S	CD1E_ENST00000368157.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.A279S|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Missense_Mutation_p.A182S|CD1E_ENST00000368160.3_Missense_Mutation_p.A281S|CD1E_ENST00000452291.2_Missense_Mutation_p.A92S|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.A191S|CD1E_ENST00000368166.3_Missense_Mutation_p.A92S|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.A191S	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	281	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGGGAGGCAGCTGGCCTGTC	0.582																																																	0													72.0	74.0	74.0					1																	158325832		2203	4300	6503	SO:0001583	missense	913			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.841G>T	1.37:g.158325832G>T	ENSP00000357149:p.Ala281Ser		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.A281S	ENST00000368167.3	37	c.841	CCDS41417.1	1	.	.	.	.	.	.	.	.	.	.	G	8.930	0.963100	0.18583	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368160;ENST00000368156	T;T;T;T;T;T;T;T	0.13657	4.17;4.17;4.17;4.17;2.57;4.17;4.17;2.57	4.28	2.39	0.29439	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.321368	0.22845	N	0.054925	T	0.05547	0.0146	L	0.33293	1	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B	0.31174	0.018;0.311;0.202;0.099;0.009;0.017;0.018;0.174;0.099;0.007;0.017	B;P;B;B;B;B;B;B;B;B;B	0.45119	0.26;0.47;0.284;0.153;0.284;0.144;0.08;0.17;0.242;0.156;0.108	T	0.42137	-0.9469	10	0.29301	T	0.29	-2.7839	6.3688	0.21469	0.2268:0.0:0.7732:0.0	.	92;182;279;281;182;191;92;281;281;92;191	B4E057;B4E042;E7ET31;A2RRL5;E7EP01;P15812-5;P15812-9;P15812-2;P15812;P15812-8;P15812-6	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.	S	279;182;281;92;191;92;281;191	ENSP00000401957:A279S;ENSP00000402906:A182S;ENSP00000357149:A281S;ENSP00000416228:A92S;ENSP00000357147:A191S;ENSP00000357148:A92S;ENSP00000357142:A281S;ENSP00000357138:A191S	ENSP00000357138:A191S	A	+	1	0	CD1E	156592456	0.000000	0.05858	0.093000	0.20910	0.470000	0.32858	-0.138000	0.10374	0.451000	0.26802	0.563000	0.77884	GCT	CD1E	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.582	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD1E	HGNC	protein_coding	OTTHUMT00000046353.3	G	NM_030893		158325832	+1	no_errors	ENST00000368167	ensembl	human	known	70_37	missense	SNP	0.043	T
CENPF	1063	genome.wustl.edu	37	1	214794046	214794046	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:214794046G>T	ENST00000366955.3	+	6	790	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CCGCGACATTGCCCGGCATCA	0.433																																					Colon(80;575 1284 11000 14801 43496)												0													115.0	128.0	124.0					1																	214794046		2203	4300	6503	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.622G>T	1.37:g.214794046G>T	ENSP00000355922:p.Ala208Ser		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd	p.A208S	ENST00000366955.3	37	c.622	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.586928	0.96578	.	.	ENSG00000117724	ENST00000366955	T	0.31247	1.5	6.0	6.0	0.97389	Centromere protein Cenp-F, N-terminal (1);	0.000000	0.37906	N	0.001892	T	0.60392	0.2265	.	.	.	0.54753	D	0.999983	D	0.71674	0.998	D	0.76071	0.987	T	0.59198	-0.7499	9	0.56958	D	0.05	.	20.4913	0.99204	0.0:0.0:1.0:0.0	.	208	P49454	CENPF_HUMAN	S	208	ENSP00000355922:A208S	ENSP00000355922:A208S	A	+	1	0	CENPF	212860669	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.183000	0.94887	2.846000	0.97976	0.603000	0.83216	GCC	CENPF	-	pfam_Centromere_CenpF_N		0.433	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	HGNC	protein_coding	OTTHUMT00000089749.1	G	NM_016343		214794046	+1	no_errors	ENST00000366955	ensembl	human	known	70_37	missense	SNP	1.000	T
CHD4	1108	genome.wustl.edu	37	12	6709699	6709699	+	Splice_Site	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:6709699C>T	ENST00000357008.2	-	8	1227		c.e8+1		CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GAGAAACACACCTTTCTTTTT	0.483																																					Colon(32;586 792 4568 16848 45314)												0													64.0	71.0	68.0					12																	6709699		2203	4300	6503	SO:0001630	splice_region_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1063+1G>A	12.37:g.6709699C>T			Q8IXZ5	Splice_Site	SNP	-	e7+1	ENST00000357008.2	37	c.1063+1	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911051	0.72983	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6762	0.88232	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6579960	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.423000	0.82170	0.561000	0.74099	.	CHD4	-	-		0.483	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273	Intron	6709699	-1	no_errors	ENST00000309577	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CHEK2	11200	genome.wustl.edu	37	22	29095918	29095918	+	Missense_Mutation	SNP	C	C	A	rs587783051		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr22:29095918C>A	ENST00000405598.1	-	10	1107	c.916G>T	c.(916-918)Ggg>Tgg	p.G306W	CHEK2_ENST00000403642.1_Missense_Mutation_p.G215W|CHEK2_ENST00000328354.6_Missense_Mutation_p.G306W|CHEK2_ENST00000544772.1_Missense_Mutation_p.G85W|CHEK2_ENST00000402731.1_Missense_Mutation_p.G306W|CHEK2_ENST00000382580.2_Missense_Mutation_p.G349W|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.G306W|CHEK2_ENST00000382566.1_Missense_Mutation_p.R285M|CHEK2_ENST00000464581.1_5'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.G306W|CHEK2_ENST00000382578.1_Missense_Mutation_p.G215W			O96017	CHK2_HUMAN	checkpoint kinase 2	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G306R(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						AGCTCTCCCCCTTCCATCCTG	0.443			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															yes	Rec		familial breast cancer	22	22q12.1	11200	CHK2 checkpoint homolog (S. pombe)		E	1	Substitution - Missense(1)	lung(1)											167.0	165.0	166.0					22																	29095918		2203	4300	6503	SO:0001583	missense	11200			AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.916G>T	22.37:g.29095918C>A	ENSP00000386087:p.Gly306Trp		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_cat_dom	p.G349W	ENST00000405598.1	37	c.1045	CCDS13843.1	22	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	25.3|25.3|25.3	4.621662|4.621662|4.621662	0.87460|0.87460|0.87460	.|.|.	.|.|.	ENSG00000183765|ENSG00000183765|ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000425190|ENST00000434810;ENST00000456369|ENST00000382566	T;T;T;T;T;T;T;T;T;T;T|.|D	0.58210|.|0.93247	0.65;0.35;0.35;0.35;0.35;0.35;0.35;0.35;0.65;0.35;1.36|.|-3.19	5.67|5.67|5.67	5.67|5.67|5.67	0.87782|0.87782|0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.98065|0.98065|0.98065	0.9362|0.9362|0.9362	H|H|H	0.97291|0.97291|0.97291	3.975|3.975|3.975	0.80722|0.80722|0.80722	D|D|D	1|1|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|D|D	0.98186|0.98186|0.98186	1.0460|1.0460|1.0460	10|5|7	0.87932|.|0.42905	D|.|T	0|.|0.14	1.9826|1.9826|1.9826	18.7461|18.7461|18.7461	0.91794|0.91794|0.91794	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	306;215;85;306;306;306;349|.|.	O96017-7;O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9|.|.	.;.;.;.;.;CHK2_HUMAN;.|.|.	W|N|M	306;215;85;306;306;306;349;215;306;239;85|49;57|285	ENSP00000329012:G306W;ENSP00000372021:G215W;ENSP00000442458:G85W;ENSP00000329178:G306W;ENSP00000385747:G306W;ENSP00000386087:G306W;ENSP00000372023:G349W;ENSP00000384919:G215W;ENSP00000384835:G306W;ENSP00000397478:G239W;ENSP00000390244:G85W|.|ENSP00000372007:R285M	ENSP00000329178:G306W|.|ENSP00000372007:R285M	G|K|R	-|-|-	1|3|2	0|2|0	CHEK2|CHEK2|CHEK2	27425918|27425918|27425918	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.892000|0.892000|0.892000	0.51952|0.51952|0.51952	6.589000|6.589000|6.589000	0.74080|0.74080|0.74080	2.675000|2.675000|2.675000	0.91044|0.91044|0.91044	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGG|AAG|AGG	CHEK2	-	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		0.443	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHEK2	HGNC	protein_coding	OTTHUMT00000321150.1	C	NM_001005735		29095918	-1	no_errors	ENST00000382580	ensembl	human	known	70_37	missense	SNP	1.000	A
COX7A2L	9167	genome.wustl.edu	37	2	42578285	42578285	+	3'UTR	SNP	A	A	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:42578285A>T	ENST00000378669.1	-	0	1248				COX7A2L_ENST00000234301.2_3'UTR|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						aaaaaaaaaaattttaattta	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	9167			AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.*74T>A	2.37:g.42578285A>T			Q9P118	RNA	SNP	-	NULL	ENST00000378669.1	37	NULL	CCDS1808.1	2																																																																																			COX7A2L	-	-		0.328	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX7A2L	HGNC	protein_coding	OTTHUMT00000250466.3	A	NM_004718		42578285	-1	no_errors	ENST00000482463	ensembl	human	known	70_37	rna	SNP	0.001	T
CPT1C	126129	genome.wustl.edu	37	19	50203982	50203982	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr19:50203982C>T	ENST00000392518.4	+	5	695	c.323C>T	c.(322-324)gCg>gTg	p.A108V	CPT1C_ENST00000405931.2_Missense_Mutation_p.A108V|CPT1C_ENST00000598293.1_Missense_Mutation_p.A108V|CPT1C_ENST00000323446.5_Missense_Mutation_p.A108V|CPT1C_ENST00000354199.5_Missense_Mutation_p.A108V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	108					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGCAGCCGCGCTGTTTGCC	0.657																																																	0													120.0	108.0	112.0					19																	50203982		2203	4300	6503	SO:0001583	missense	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.323C>T	19.37:g.50203982C>T	ENSP00000376303:p.Ala108Val		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A108V	ENST00000392518.4	37	c.323	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	C	0.300	-0.974167	0.02215	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	4.47	4.47	0.54385	.	0.357742	0.20463	N	0.091853	T	0.44138	0.1279	N	0.12569	0.235	0.31993	N	0.604408	P;B;B	0.42620	0.785;0.0;0.001	B;B;B	0.31290	0.127;0.008;0.003	T	0.53070	-0.8490	10	0.06891	T	0.86	-18.361	14.157	0.65424	0.0:1.0:0.0:0.0	.	108;108;108	Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;CPT1C_HUMAN	V	108	ENSP00000376303:A108V;ENSP00000346138:A108V;ENSP00000384465:A108V;ENSP00000319343:A108V	ENSP00000319343:A108V	A	+	2	0	CPT1C	54895794	0.807000	0.29009	0.132000	0.22025	0.016000	0.09150	3.617000	0.54181	2.333000	0.79357	0.393000	0.25936	GCG	CPT1C	-	NULL		0.657	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	C	NM_152359		50203982	+1	no_errors	ENST00000323446	ensembl	human	known	70_37	missense	SNP	0.026	T
DNAH8	1769	genome.wustl.edu	37	6	38840874	38840874	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr6:38840874G>A	ENST00000359357.3	+	49	7033	c.6779G>A	c.(6778-6780)gGc>gAc	p.G2260D	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2477D|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2224D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2260	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTAGGATGGGCATGGTCTAT	0.512																																																	0													89.0	92.0	91.0					6																	38840874		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6779G>A	6.37:g.38840874G>A	ENSP00000352312:p.Gly2260Asp		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.G2260D	ENST00000359357.3	37	c.6779		6	.	.	.	.	.	.	.	.	.	.	G	33	5.222672	0.95139	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.64803	-0.12;-0.12;-0.12	5.81	5.81	0.92471	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.82222	0.4990	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84861	0.0819	10	0.87932	D	0	.	20.0621	0.97678	0.0:0.0:1.0:0.0	.	2260	Q96JB1	DYH8_HUMAN	D	2465;2465;2260;2224	ENSP00000333363:G2465D;ENSP00000352312:G2260D;ENSP00000402294:G2224D	ENSP00000333363:G2465D	G	+	2	0	DNAH8	38948852	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.750000	0.94351	0.655000	0.94253	GGC	DNAH8	-	smart_AAA+_ATPase		0.512	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38840874	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	A
DRP2	1821	genome.wustl.edu	37	X	100492679	100492679	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chrX:100492679T>A	ENST00000395209.3	+	5	880	c.353T>A	c.(352-354)cTc>cAc	p.L118H	DRP2_ENST00000538510.1_Missense_Mutation_p.L118H|DRP2_ENST00000541709.1_Missense_Mutation_p.L40H|DRP2_ENST00000402866.1_Missense_Mutation_p.L118H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	118					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						ATTGACTGGCTCAGCCAAAAG	0.527																																																	0													123.0	113.0	117.0					X																	100492679		2203	4300	6503	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.353T>A	X.37:g.100492679T>A	ENSP00000378635:p.Leu118His		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L118H	ENST00000395209.3	37	c.353	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	t	26.5	4.739280	0.89573	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.71719	0.3373	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.75260	-0.3380	10	0.87932	D	0	-13.8051	15.2084	0.73198	0.0:0.0:0.0:1.0	.	118	Q13474	DRP2_HUMAN	H	118;118;40;118	ENSP00000385038:L118H;ENSP00000378635:L118H;ENSP00000444752:L40H;ENSP00000441051:L118H	ENSP00000362007:L118H	L	+	2	0	DRP2	100379335	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	1.975000	0.57531	0.438000	0.28831	CTC	DRP2	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2		0.527	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3	T	NM_001939		100492679	+1	no_errors	ENST00000395209	ensembl	human	known	70_37	missense	SNP	1.000	A
CRACR2B	283229	genome.wustl.edu	37	11	831574	831574	+	Silent	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:831574C>T	ENST00000525077.1	+	9	1166	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	EFCAB4A_ENST00000528542.2_3'UTR|CD151_ENST00000397421.1_5'Flank|EFCAB4A_ENST00000450448.1_3'UTR|CD151_ENST00000397420.3_5'Flank|CD151_ENST00000322008.4_5'Flank|AP006621.8_ENST00000532946.1_RNA			Q8N4Y2	EFC4A_HUMAN		355					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGACGCCTGCGAGGCCAGGC	0.682																																																	0													23.0	27.0	26.0					11																	831574		1970	4145	6115	SO:0001819	synonymous_variant	283229																														ENST00000525077.1:c.1065C>T	11.37:g.831574C>T			D5LPR2|Q8NBW8	Silent	SNP	pfscan_EF_HAND_2	p.C355	ENST00000525077.1	37	c.1065		11																																																																																			EFCAB4A	-	NULL		0.682	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	HGNC	protein_coding	OTTHUMT00000383097.1	C			831574	+1	no_errors	ENST00000525077	ensembl	human	novel	70_37	silent	SNP	0.973	T
RP11-382F24.2	0	genome.wustl.edu	37	X	55307825	55307825	+	RNA	SNP	A	A	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chrX:55307825A>G	ENST00000440645.2	+	0	22																											ATGAGTGAGCATGTAAGAACA	0.353																																																	0																																												0																															X.37:g.55307825A>G				RNA	SNP	-	NULL	ENST00000440645.2	37	NULL		X																																																																																			RP11-382F24.2	-	-		0.353	RP11-382F24.2-001	KNOWN	basic	processed_transcript	ENSG00000232765	Clone_based_vega_gene	processed_transcript	OTTHUMT00000056864.2	A			55307825	+1	no_errors	ENST00000440645	ensembl	human	known	70_37	rna	SNP	0.001	G
EXOC3L4	91828	genome.wustl.edu	37	14	103568544	103568544	+	Missense_Mutation	SNP	G	G	A	rs373034943		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr14:103568544G>A	ENST00000380069.3	+	2	560	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	162					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTGGTGGCCGAGAAGGCCTC	0.657																																																	0													13.0	14.0	13.0					14																	103568544		2198	4292	6490	SO:0001583	missense	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.484G>A	14.37:g.103568544G>A	ENSP00000369409:p.Glu162Lys		Q14CR2	Missense_Mutation	SNP	pfam_Sec6	p.E162K	ENST00000380069.3	37	c.484	CCDS32163.1	14	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069132	0.36470	.	.	ENSG00000205436	ENST00000380069	T	0.06068	3.35	4.11	3.22	0.36961	.	0.287593	0.26692	N	0.022983	T	0.05273	0.0140	L	0.29908	0.895	0.09310	N	1	D	0.56521	0.976	B	0.43809	0.432	T	0.33523	-0.9865	10	0.51188	T	0.08	-5.4548	5.6576	0.17650	0.1089:0.2001:0.691:0.0	.	162	Q17RC7	EX3L4_HUMAN	K	162	ENSP00000369409:E162K	ENSP00000369409:E162K	E	+	1	0	EXOC3L4	102638297	0.070000	0.21116	0.001000	0.08648	0.200000	0.23975	2.372000	0.44257	0.934000	0.37316	0.555000	0.69702	GAG	EXOC3L4	-	NULL		0.657	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1	G	XM_941093		103568544	+1	no_errors	ENST00000380069	ensembl	human	known	70_37	missense	SNP	0.001	A
GCK	2645	genome.wustl.edu	37	7	44189446	44189446	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr7:44189446C>T	ENST00000403799.3	-	6	1061	c.592G>A	c.(592-594)Gat>Aat	p.D198N	GCK_ENST00000437084.1_Missense_Mutation_p.D181N|GCK_ENST00000345378.2_Missense_Mutation_p.D199N|GCK_ENST00000395796.3_Missense_Mutation_p.D197N	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	198	Hexokinase type-1.				calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCCACCACATCCATTTCAAAG	0.592																																																	0													140.0	119.0	126.0					7																	44189446		2203	4300	6503	SO:0001583	missense	2645			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.592G>A	7.37:g.44189446C>T	ENSP00000384247:p.Asp198Asn		A4D2J2|A4D2J3|Q05810	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.D199N	ENST00000403799.3	37	c.595	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.210695	0.95069	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31	5.96	5.96	0.96718	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98839	0.9608	L	0.41415	1.275	0.80722	D	1	D;B;D	0.89917	1.0;0.012;0.999	D;B;D	0.83275	0.996;0.025;0.994	D	0.99327	1.0908	10	0.33940	T	0.23	-45.4969	20.0324	0.97544	0.0:1.0:0.0:0.0	.	198;199;197	P35557;P35557-2;P35557-3	HXK4_HUMAN;.;.	N	198;197;199;181	ENSP00000384247:D198N;ENSP00000379142:D197N;ENSP00000223366:D199N;ENSP00000402840:D181N	ENSP00000223366:D199N	D	-	1	0	GCK	44155971	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GAT	GCK	-	pfam_Hexokinase_N		0.592	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	HGNC	protein_coding	OTTHUMT00000251069.2	C			44189446	-1	no_errors	ENST00000345378	ensembl	human	known	70_37	missense	SNP	1.000	T
GIPC2	54810	genome.wustl.edu	37	1	78601340	78601340	+	Silent	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:78601340C>T	ENST00000370759.3	+	6	1054	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_017655.4	NP_060125.4	Q8TF65	GIPC2_HUMAN	GIPC PDZ domain containing family, member 2	287						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TGGCACTTGACGAAACTCTTG	0.378																																																	0													101.0	89.0	93.0					1																	78601340		2203	4300	6503	SO:0001819	synonymous_variant	54810			AB073737	CCDS685.1	1p31.1	2010-05-28			ENSG00000137960	ENSG00000137960			18177	protein-coding gene	gene with protein product	"""semaphorin cytoplasmic domain associated protein 2"""					11836570	Standard	NM_017655		Approved	FLJ20075, SEMCAP-2	uc001dik.3	Q8TF65	OTTHUMG00000041145	ENST00000370759.3:c.861C>T	1.37:g.78601340C>T			Q8IYD3|Q9NXS7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_Ig_E-set,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.D287	ENST00000370759.3	37	c.861	CCDS685.1	1																																																																																			GIPC2	-	pirsf_UCP038083_PDZ		0.378	GIPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC2	HGNC	protein_coding	OTTHUMT00000098629.1	C	NM_017655		78601340	+1	no_errors	ENST00000370759	ensembl	human	known	70_37	silent	SNP	0.139	T
HERC1	8925	genome.wustl.edu	37	15	63921011	63921011	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr15:63921011C>T	ENST00000443617.2	-	70	13057	c.12970G>A	c.(12970-12972)Ggc>Agc	p.G4324S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4324					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGGCCTAAGCCGAGCTGGGAA	0.448																																																	0													120.0	114.0	116.0					15																	63921011		1869	4109	5978	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12970G>A	15.37:g.63921011C>T	ENSP00000390158:p.Gly4324Ser		Q8IW65	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.G4324S	ENST00000443617.2	37	c.12970	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257887	0.80246	.	.	ENSG00000103657	ENST00000443617	D	0.98732	-5.1	5.89	5.89	0.94794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.99536	0.9834	H	0.98542	4.26	0.80722	D	1	D	0.71674	0.998	D	0.65233	0.933	D	0.98030	1.0376	10	0.87932	D	0	.	20.2469	0.98398	0.0:1.0:0.0:0.0	.	4324	Q15751	HERC1_HUMAN	S	4324	ENSP00000390158:G4324S	ENSP00000390158:G4324S	G	-	1	0	HERC1	61708064	1.000000	0.71417	0.997000	0.53966	0.031000	0.12232	7.818000	0.86416	2.781000	0.95711	0.555000	0.69702	GGC	HERC1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	HGNC	protein_coding	OTTHUMT00000418523.1	C	NM_003922		63921011	-1	no_errors	ENST00000443617	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNRD1-AS1	80862	genome.wustl.edu	37	6	29974575	29974575	+	RNA	SNP	A	A	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr6:29974575A>G	ENST00000376797.3	-	0	1346				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		CCTCGCCCCCAGGCTCCCACT	0.711																																																	0																																												3137			AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29974575A>G				Splice_Site	SNP	-	NULL	ENST00000376797.3	37	c.NULL		6																																																																																			HLA-J	-	-		0.711	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	HLA-J	HGNC	antisense	OTTHUMT00000253083.1	A	NR_026751		29974575	+1	no_errors	ENST00000462773	ensembl	human	known	70_37	splice_site	SNP	0.061	G
HYDIN	54768	genome.wustl.edu	37	16	70894771	70894771	+	Silent	SNP	C	C	T	rs112468877		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr16:70894771C>T	ENST00000393567.2	-	70	11961	c.11811G>A	c.(11809-11811)ccG>ccA	p.P3937P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3937					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTACCAGGACCGGACCTTGCT	0.483																																																	0													3.0	3.0	3.0					16																	70894771		1589	3605	5194	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.11811G>A	16.37:g.70894771C>T			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.P3936	ENST00000393567.2	37	c.11808	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70894771	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.002	T
KBTBD8	84541	genome.wustl.edu	37	3	67058535	67058535	+	Missense_Mutation	SNP	G	G	T	rs202223775		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr3:67058535G>T	ENST00000417314.2	+	4	1581	c.1532G>T	c.(1531-1533)cGt>cTt	p.R511L	KBTBD8_ENST00000295568.4_Missense_Mutation_p.R485L|KBTBD8_ENST00000460576.1_Missense_Mutation_p.R69L			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	511						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAATGGACTCGTAAGAAAGAC	0.368																																																	0													133.0	128.0	129.0					3																	67058535		2203	4300	6503	SO:0001583	missense	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1532G>T	3.37:g.67058535G>T	ENSP00000401878:p.Arg511Leu		B4DTW6|Q96JI5	Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R511L	ENST00000417314.2	37	c.1532	CCDS2906.2	3	.	.	.	.	.	.	.	.	.	.	G	8.363	0.833468	0.16820	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.78816	-1.21;-1.21;-1.21	5.57	5.57	0.84162	Kelch-type beta propeller (1);	0.157716	0.64402	D	0.000019	T	0.67496	0.2899	L	0.39898	1.24	0.58432	D	0.999998	B;B	0.32573	0.192;0.376	B;B	0.33196	0.159;0.109	T	0.63014	-0.6731	10	0.08381	T	0.77	.	13.7966	0.63175	0.0732:0.0:0.9268:0.0	.	69;511	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	L	485;69;511	ENSP00000295568:R485L;ENSP00000419738:R69L;ENSP00000401878:R511L	ENSP00000295568:R485L	R	+	2	0	KBTBD8	67141225	1.000000	0.71417	0.986000	0.45419	0.885000	0.51271	7.619000	0.83057	2.629000	0.89072	0.650000	0.86243	CGT	KBTBD8	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.368	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	G	NM_032505		67058535	+1	no_errors	ENST00000417314	ensembl	human	known	70_37	missense	SNP	0.998	T
KCNJ12	3768	genome.wustl.edu	37	17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T	rs377513949		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr17:21319343C>T	ENST00000583088.1	+	3	1584	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	230					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CATGTGCGCGCGCAGCTCATC	0.637										Prostate(3;0.18)																																							0								C	VAL/ALA	0,4406		0,0,2203	88.0	70.0	76.0		689	5.3	1.0	17		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ12	NM_021012.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	230/434	21319343	1,13005	2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.689C>T	17.37:g.21319343C>T	ENSP00000463778:p.Ala230Val		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.A230V	ENST00000583088.1	37	c.689	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.222216	0.95139	0.0	1.16E-4	ENSG00000184185	ENST00000331718	D	0.91686	-2.89	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.58925	1.835	0.80722	D	1	D	0.69078	0.997	P	0.55508	0.777	D	0.94602	0.7797	10	0.87932	D	0	.	18.9979	0.92821	0.0:1.0:0.0:0.0	.	230	Q14500	IRK12_HUMAN	V	230	ENSP00000328150:A230V	ENSP00000328150:A230V	A	+	2	0	KCNJ12	21259936	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.680000	0.84062	2.496000	0.84212	0.655000	0.94253	GCG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	C	NM_021012		21319343	+1	no_errors	ENST00000331718	ensembl	human	known	70_37	missense	SNP	1.000	T
KIDINS220	57498	genome.wustl.edu	37	2	8918771	8918771	+	Missense_Mutation	SNP	G	G	A	rs372110208		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:8918771G>A	ENST00000256707.3	-	20	2882	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	KIDINS220_ENST00000427284.1_Missense_Mutation_p.R901W|KIDINS220_ENST00000418530.1_Missense_Mutation_p.R859W|KIDINS220_ENST00000319688.5_Missense_Mutation_p.R902W|KIDINS220_ENST00000473731.1_Missense_Mutation_p.R901W	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	901	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.R901W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CATCTTACCCGTCTATTGAGG	0.363																																																	1	Substitution - Missense(1)	endometrium(1)						G	TRP/ARG	0,3772		0,0,1886	161.0	148.0	152.0		2701	5.0	1.0	2		152	1,8225		0,1,4112	no	missense	KIDINS220	NM_020738.2	101	0,1,5998	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	901/1772	8918771	1,11997	1886	4113	5999	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2701C>T	2.37:g.8918771G>A	ENSP00000256707:p.Arg901Trp		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R901W	ENST00000256707.3	37	c.2701	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672504	0.47781	0.0	1.22E-4	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.69561	0.71;-0.41;-0.38;-0.3;-0.38;-0.35;-0.33	5.86	4.96	0.65561	KAP P-loop (1);	0.104386	0.64402	D	0.000006	T	0.80879	0.4708	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.998;0.998	D;D;D;D	0.87578	0.998;0.927;0.91;0.946	T	0.83072	-0.0142	10	0.72032	D	0.01	.	13.7591	0.62954	0.0:0.0:0.7202:0.2798	.	902;902;859;901	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	W	648;585;901;901;859;901;902;902	ENSP00000420364:R648W;ENSP00000256707:R901W;ENSP00000411849:R901W;ENSP00000414923:R859W;ENSP00000418974:R901W;ENSP00000419964:R902W;ENSP00000319947:R902W	ENSP00000256707:R901W	R	-	1	2	KIDINS220	8836222	1.000000	0.71417	0.992000	0.48379	0.098000	0.18820	1.792000	0.38754	1.421000	0.47157	0.655000	0.94253	CGG	KIDINS220	-	pfam_KAP_NTPase		0.363	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8918771	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF5C	3800	genome.wustl.edu	37	2	149866723	149866723	+	Silent	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:149866723C>T	ENST00000435030.1	+	24	2993	c.2625C>T	c.(2623-2625)cgC>cgT	p.R875R	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Silent_p.R780R|KIF5C_ENST00000397413.1_Silent_p.R643R			O60282	KIF5C_HUMAN	kinesin family member 5C	875	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CGGCGGAGCGCGTCAAGGCTC	0.647																																																	0													16.0	21.0	19.0					2																	149866723		2156	4238	6394	SO:0001819	synonymous_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.2625C>T	2.37:g.149866723C>T			O95079|Q2YDC5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R875	ENST00000435030.1	37	c.2625		2																																																																																			KIF5C	-	NULL		0.647	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	KIF5C	HGNC	protein_coding	OTTHUMT00000332562.3	C	NM_004522		149866723	+1	no_errors	ENST00000435030	ensembl	human	known	70_37	silent	SNP	0.117	T
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	A
LINC01410	103352539	genome.wustl.edu	37	9	66466242	66466242	+	lincRNA	SNP	T	T	C			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr9:66466242T>C	ENST00000424345.1	+	0	875																											ccggacagactccattttagt	0.458																																																	0																																												100996870																															9.37:g.66466242T>C				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.458	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	T			66466242	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.009	C
FAM230A	653203	genome.wustl.edu	37	22	20708820	20708820	+	Silent	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr22:20708820C>T	ENST00000434783.3	+	8	736	c.552C>T	c.(550-552)atC>atT	p.I184I	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		CCCACGTAATCGCTAACGAGG	0.642																																																	0																																										SO:0001819	synonymous_variant	101060787			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.552C>T	22.37:g.20708820C>T				Silent	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.I184	ENST00000434783.3	37	c.552		22																																																																																			AC007731.1	-	superfamily_Kinase-like_dom		0.642	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC101060787	Clone_based_vega_gene	protein_coding	OTTHUMT00000319609.4	C			20708820	+1	no_errors	ENST00000434783	ensembl	human	putative	70_37	silent	SNP	0.023	T
LRRD1	401387	genome.wustl.edu	37	7	91794221	91794221	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr7:91794221C>A	ENST00000458448.1	-	2	496	c.296G>T	c.(295-297)aGt>aTt	p.S99I	LRRD1_ENST00000343318.5_Intron|LRRD1_ENST00000454089.2_5'UTR|CTB-161K23.1_ENST00000453068.1_RNA|LRRD1_ENST00000422722.1_Intron|LRRD1_ENST00000430130.2_Missense_Mutation_p.S99I			A4D1F6	LRRD1_HUMAN	leucine-rich repeats and death domain containing 1	99					signal transduction (GO:0007165)					breast(4)|endometrium(1)	5						TGATGATAAACTCTGTGAAGT	0.383																																																	0													196.0	165.0	175.0					7																	91794221		692	1591	2283	SO:0001583	missense	401387			BC026112	CCDS55124.1	7q21.2	2011-05-23			ENSG00000240720	ENSG00000240720			34300	protein-coding gene	gene with protein product							Standard	NM_001161528		Approved	IMAGE:4798971	uc011khp.1	A4D1F6	OTTHUMG00000155861	ENST00000458448.1:c.296G>T	7.37:g.91794221C>A	ENSP00000405987:p.Ser99Ile		B7ZMM9|Q49AT9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death	p.S99I	ENST00000458448.1	37	c.296	CCDS55124.1	7	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377625	0.42105	.	.	ENSG00000240720	ENST00000458448;ENST00000430130	T;T	0.38560	1.13;1.13	4.94	-1.67	0.08238	.	.	.	.	.	T	0.24661	0.0598	L	0.27053	0.805	0.09310	N	0.999999	B	0.14438	0.01	B	0.12837	0.008	T	0.27157	-1.0082	9	0.66056	D	0.02	.	2.9794	0.05948	0.3219:0.2943:0.0:0.3838	.	99	A4D1F6	LRRD1_HUMAN	I	99	ENSP00000405987:S99I;ENSP00000411568:S99I	ENSP00000411568:S99I	S	-	2	0	LRRD1	91632157	0.000000	0.05858	0.000000	0.03702	0.427000	0.31564	-1.444000	0.02403	-0.031000	0.13781	0.585000	0.79938	AGT	LRRD1	-	NULL		0.383	LRRD1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRD1	HGNC	protein_coding	OTTHUMT00000342027.2	C	NM_001045475		91794221	-1	no_errors	ENST00000430130	ensembl	human	known	70_37	missense	SNP	0.000	A
MAP7	9053	genome.wustl.edu	37	6	136698939	136698939	+	Silent	SNP	C	C	T	rs139137339	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr6:136698939C>T	ENST00000354570.3	-	7	1115	c.705G>A	c.(703-705)tcG>tcA	p.S235S	MAP7_ENST00000438100.2_Silent_p.S220S|MAP7_ENST00000432797.2_Silent_p.S89S|MAP7_ENST00000454590.1_Silent_p.S257S|MAP7_ENST00000544465.1_Silent_p.S220S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	235					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGGCCAGGAACGAATGTGTGG	0.527																																																	0								C	,,,,,,,,,	0,4406		0,0,2203	122.0	105.0	111.0		771,771,660,771,660,594,423,267,267,705	4.7	1.0	6	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	,,,,,,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,,,,,,	257/772,257/780,220/735,257/772,220/735,198/713,141/656,89/604,89/604,235/750	136698939	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9053			X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.705G>A	6.37:g.136698939C>T			B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	pfam_E-MAP-115	p.S257	ENST00000354570.3	37	c.771	CCDS5178.1	6																																																																																			MAP7	-	NULL		0.527	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP7	HGNC	protein_coding	OTTHUMT00000042382.2	C	NM_003980		136698939	-1	no_errors	ENST00000454590	ensembl	human	known	70_37	silent	SNP	1.000	T
MIR3687-2	103504728	genome.wustl.edu	37	21	9825991	9825991	+	RNA	SNP	C	C	G	rs569625303	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr21:9825991C>G	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						GTCCCCTTCCCCGCCGGCCGC	0.806													.|||	2	0.000399361	0.0	0.0014	5008	,	,		462331	0.0		0.001	False		,,,				2504	0.0																0																																												100500862																															21.37:g.9825991C>G				RNA	SNP	-	NULL	ENST00000577708.1	37	NULL		21																																																																																			MIR3648	-	-		0.806	MIR3687-201	KNOWN	basic	miRNA	MIR3648	HGNC	miRNA		C			9825991	+1	no_errors	ENST00000581792	ensembl	human	known	70_37	rna	SNP	0.121	G
MKL2	57496	genome.wustl.edu	37	16	14339465	14339465	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr16:14339465C>G	ENST00000341243.5	+	9	1127	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	MKL2_ENST00000571589.1_Missense_Mutation_p.S387C|MKL2_ENST00000318282.5_Missense_Mutation_p.S387C|MKL2_ENST00000574045.1_Missense_Mutation_p.S387C			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	376					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGAATACATCTACTCCTGTG	0.418																																																	0													162.0	146.0	151.0					16																	14339465		2197	4300	6497	SO:0001583	missense	57496			AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1127C>G	16.37:g.14339465C>G	ENSP00000345841:p.Ser376Cys		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.S376C	ENST00000341243.5	37	c.1127		16	.	.	.	.	.	.	.	.	.	.	C	9.994	1.231580	0.22626	.	.	ENSG00000186260	ENST00000318282;ENST00000341243	.	.	.	5.88	1.38	0.22167	.	1.249920	0.04977	N	0.464921	T	0.30039	0.0752	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.11329	0.001;0.006	T	0.37934	-0.9684	9	0.45353	T	0.12	0.0029	15.7527	0.77997	0.1061:0.2757:0.6182:0.0	.	387;387	B4DGT8;Q9ULH7-4	.;.	C	387;376	.	ENSP00000339086:S387C	S	+	2	0	MKL2	14246966	0.000000	0.05858	0.020000	0.16555	0.794000	0.44872	0.951000	0.29135	0.337000	0.23665	0.655000	0.94253	TCT	MKL2	-	NULL		0.418	MKL2-202	KNOWN	basic	protein_coding	MKL2	HGNC	protein_coding		C	NM_014048		14339465	+1	no_errors	ENST00000341243	ensembl	human	known	70_37	missense	SNP	0.002	G
MUC2	4583	genome.wustl.edu	37	11	1099467	1099467	+	Silent	SNP	T	T	C			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:1099467T>C	ENST00000441003.2	+	39	7335	c.7308T>C	c.(7306-7308)ccT>ccC	p.P2436P		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4798					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTTCTGTCCTGAGGGCACCA	0.637																																																	0													51.0	58.0	55.0					11																	1099467		2167	4249	6416	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7308T>C	11.37:g.1099467T>C			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P2436	ENST00000441003.2	37	c.7308		11																																																																																			MUC2	-	superfamily_TIL_dom		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	T	NM_002457		1099467	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	0.001	C
MYH7B	57644	genome.wustl.edu	37	20	33567553	33567553	+	Silent	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr20:33567553C>T	ENST00000262873.7	+	5	506	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	96	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGCACCTGAACGAGGCCTCTG	0.637																																																	0													68.0	68.0	68.0					20																	33567553		2171	4286	6457	SO:0001819	synonymous_variant	57644			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.414C>T	20.37:g.33567553C>T			Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.N138	ENST00000262873.7	37	c.414	CCDS42869.1	20																																																																																			MYH7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.637	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	C	NM_020884		33567553	+1	no_errors	ENST00000262873	ensembl	human	novel	70_37	silent	SNP	0.996	T
NACA	4666	genome.wustl.edu	37	12	57110236	57110236	+	Missense_Mutation	SNP	G	G	C	rs144522448	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:57110236G>C	ENST00000454682.1	-	3	5359	c.5078C>G	c.(5077-5079)aCg>aGg	p.T1693R	NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1693	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GATGATTGGCGTGCTTTCTGG	0.502			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													268.0	237.0	246.0					12																	57110236		1568	3582	5150	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5078C>G	12.37:g.57110236G>C	ENSP00000403817:p.Thr1693Arg			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.T1693R	ENST00000454682.1	37	c.5078		12	.	.	.	.	.	.	.	.	.	.	G	6.812	0.518829	0.13005	.	.	ENSG00000196531	ENST00000454682	T	0.49432	0.78	3.64	1.75	0.24633	.	.	.	.	.	T	0.23965	0.0580	.	.	.	0.09310	N	1	P	0.41041	0.736	B	0.28305	0.088	T	0.09335	-1.0679	7	.	.	.	.	3.8115	0.08799	0.2305:0.2048:0.5647:0.0	.	1693	E9PAV3	.	R	1693	ENSP00000403817:T1693R	.	T	-	2	0	NACA	55396503	0.000000	0.05858	0.000000	0.03702	0.283000	0.27025	-0.085000	0.11250	0.219000	0.20840	0.305000	0.20034	ACG	NACA	-	NULL		0.502	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		G	NM_005594		57110236	-1	no_errors	ENST00000454682	ensembl	human	known	70_37	missense	SNP	0.000	C
NARS2	79731	genome.wustl.edu	37	11	78270635	78270635	+	Missense_Mutation	SNP	T	T	C	rs372086134		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:78270635T>C	ENST00000281038.5	-	5	919	c.544A>G	c.(544-546)Ata>Gta	p.I182V	RP11-843A23.1_ENST00000526976.1_RNA|NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	182					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GATGTGATTATTGGAGTATGA	0.368																																																	0								T	VAL/ILE	1,4399	2.1+/-5.4	0,1,2199	143.0	143.0	143.0		544	-1.5	1.0	11		143	0,8584		0,0,4292	no	missense	NARS2	NM_024678.5	29	0,1,6491	CC,CT,TT		0.0,0.0227,0.0077	benign	182/478	78270635	1,12983	2200	4292	6492	SO:0001583	missense	79731			BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.544A>G	11.37:g.78270635T>C	ENSP00000281038:p.Ile182Val		G3V178	Missense_Mutation	SNP	pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase_IIb	p.I182V	ENST00000281038.5	37	c.544	CCDS8261.1	11	.	.	.	.	.	.	.	.	.	.	T	11.97	1.797265	0.31777	2.27E-4	0.0	ENSG00000137513	ENST00000281038;ENST00000529880	T;T	0.80393	-1.37;-1.37	5.57	-1.47	0.08772	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.457774	0.25836	N	0.027994	T	0.70996	0.3288	L	0.48174	1.505	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.59963	-0.7355	10	0.44086	T	0.13	-2.3688	11.3353	0.49500	0.0:0.4804:0.0:0.5196	.	182	Q96I59	SYNM_HUMAN	V	182	ENSP00000281038:I182V;ENSP00000432240:I182V	ENSP00000281038:I182V	I	-	1	0	NARS2	77948283	0.000000	0.05858	0.989000	0.46669	0.965000	0.64279	-0.452000	0.06787	-0.195000	0.10382	0.460000	0.39030	ATA	NARS2	-	pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Asn-tRNA-ligase_IIb		0.368	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARS2	HGNC	protein_coding	OTTHUMT00000391138.2	T	NM_024678		78270635	-1	no_errors	ENST00000281038	ensembl	human	known	70_37	missense	SNP	0.794	C
NCKAP5	344148	genome.wustl.edu	37	2	133887640	133887640	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:133887640C>T	ENST00000409261.1	-	6	624	c.251G>A	c.(250-252)cGt>cAt	p.R84H	NCKAP5_ENST00000405974.3_Missense_Mutation_p.R84H|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R84H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.R84H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	84								p.R84H(1)|p.R84P(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTTTGAAGACGTAAGTGTCT	0.438																																																	2	Substitution - Missense(2)	lung(1)|breast(1)											93.0	87.0	89.0					2																	133887640		1927	4137	6064	SO:0001583	missense	344148			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.251G>A	2.37:g.133887640C>T	ENSP00000387128:p.Arg84His		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.R84H	ENST00000409261.1	37	c.251	CCDS46418.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.856567|4.856567	0.91355|0.91355	.|.	.|.	ENSG00000176771|ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834|ENST00000427594	T;T;T;T|.	0.68765|.	1.6;-0.35;1.6;-0.35|.	6.17|6.17	5.29|5.29	0.74685|0.74685	.|.	.|.	.|.	.|.	.|.	T|T	0.36744|0.36744	0.0978|0.0978	L|L	0.27053|0.27053	0.805|0.805	0.28610|0.28610	N|N	0.90871|0.90871	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.71414|.	0.934;0.919;0.942;0.973|.	T|T	0.27400|0.27400	-1.0075|-1.0075	9|5	0.87932|.	D|.	0|.	.|.	12.9159|12.9159	0.58205|0.58205	0.1623:0.8377:0.0:0.0|0.1623:0.8377:0.0:0.0	.|.	84;59;84;84|.	F5GYX5;O14513-3;O14513-2;O14513|.	.;.;.;NCKP5_HUMAN|.	H|I	84;84;84;84;84;59|80	ENSP00000387128:R84H;ENSP00000386952:R84H;ENSP00000380603:R84H;ENSP00000385692:R84H|.	ENSP00000380603:R84H|.	R|V	-|-	2|1	0|0	NCKAP5|NCKAP5	133604110|133604110	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	6.261000|6.261000	0.72509|0.72509	1.601000|1.601000	0.50113|0.50113	0.655000|0.655000	0.94253|0.94253	CGT|GTC	NCKAP5	-	NULL		0.438	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCKAP5	HGNC	protein_coding	OTTHUMT00000331663.1	C	NM_207481		133887640	-1	no_errors	ENST00000317721	ensembl	human	known	70_37	missense	SNP	1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228520902	228520902	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:228520902G>A	ENST00000422127.1	+	58	15778	c.15734G>A	c.(15733-15735)cGg>cAg	p.R5245Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.R6202Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5245Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2879Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2364Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5245					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGCCAGCCGGGAGCAGGAG	0.662																																																	0													13.0	14.0	14.0					1																	228520902		1973	4158	6131	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15734G>A	1.37:g.228520902G>A	ENSP00000409493:p.Arg5245Gln		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.R5245Q	ENST00000422127.1	37	c.15734	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357856	0.82243	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.64618	0.27;-0.11;-0.09;0.35	5.29	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.45316	0.1336	L	0.27053	0.805	0.41322	D	0.987188	P;P	0.44281	0.74;0.831	B;B	0.33042	0.075;0.157	T	0.53394	-0.8445	10	0.59425	D	0.04	.	13.8277	0.63361	0.073:0.0:0.927:0.0	.	5245;5245	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	5245;5245;2879;2364	ENSP00000284548:R5245Q;ENSP00000409493:R5245Q;ENSP00000355668:R2879Q;ENSP00000355670:R2364Q	ENSP00000284548:R5245Q	R	+	2	0	OBSCN	226587525	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	5.348000	0.66004	1.462000	0.47948	0.561000	0.74099	CGG	OBSCN	-	NULL		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		G	NM_052843		228520902	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	A
OR8D2	283160	genome.wustl.edu	37	11	124189609	124189609	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:124189609C>T	ENST00000357438.2	-	1	575	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CACTGACATGCGGGTAGTATG	0.453																																																	0													105.0	97.0	100.0					11																	124189609		2201	4299	6500	SO:0001583	missense	283160			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.485G>A	11.37:g.124189609C>T	ENSP00000350022:p.Arg162His		B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R162H	ENST00000357438.2	37	c.485	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	c	10.11	1.260789	0.23051	.	.	ENSG00000197263	ENST00000357438	T	0.00091	8.74	3.62	1.59	0.23543	GPCR, rhodopsin-like superfamily (1);	1.464910	0.04378	N	0.360324	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.18398	-1.0338	10	0.52906	T	0.07	.	5.7746	0.18271	0.1568:0.6501:0.0:0.1931	.	162	Q9GZM6	OR8D2_HUMAN	H	162	ENSP00000350022:R162H	ENSP00000350022:R162H	R	-	2	0	OR8D2	123694819	0.000000	0.05858	0.102000	0.21198	0.076000	0.17211	-0.440000	0.06888	0.465000	0.27167	-0.517000	0.04412	CGC	OR8D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.453	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	C	NM_001002918		124189609	-1	no_errors	ENST00000357438	ensembl	human	known	70_37	missense	SNP	0.001	T
PCDHB16	57717	genome.wustl.edu	37	5	140563815	140563815	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr5:140563815G>A	ENST00000361016.2	+	1	2836	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.716																																																	0													11.0	14.0	13.0					5																	140563815		1907	3778	5685	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1681G>A	5.37:g.140563815G>A	ENSP00000354293:p.Val561Met		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V561M	ENST00000361016.2	37	c.1681	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580989	0.65992	.	.	ENSG00000196963	ENST00000361016	T	0.02050	4.48	4.12	4.12	0.48240	Cadherin (2);Cadherin-like (1);	0.000000	0.31404	N	0.007710	T	0.07773	0.0195	M	0.62016	1.91	0.27438	N	0.95379	D	0.89917	1.0	D	0.68192	0.956	T	0.04347	-1.0958	10	0.87932	D	0	.	6.2419	0.20795	0.0971:0.0:0.7174:0.1855	.	561	Q9NRJ7	PCDBG_HUMAN	M	561	ENSP00000354293:V561M	ENSP00000354293:V561M	V	+	1	0	PCDHB16	140543999	0.185000	0.23213	1.000000	0.80357	0.997000	0.91878	0.588000	0.23924	1.860000	0.53959	0.479000	0.44913	GTG	PCDHB16	-	superfamily_Cadherin-like,pfscan_Cadherin		0.716	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	G	NM_020957		140563815	+1	no_errors	ENST00000361016	ensembl	human	known	70_37	missense	SNP	0.848	A
PCDHB10	56126	genome.wustl.edu	37	5	140573806	140573806	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr5:140573806G>A	ENST00000239446.4	+	1	1865	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.731																																																	0													13.0	18.0	16.0					5																	140573806		1784	3769	5553	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1681G>A	5.37:g.140573806G>A	ENSP00000239446:p.Val561Met		Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V561M	ENST00000239446.4	37	c.1681	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	g	16.88	3.244284	0.59103	.	.	ENSG00000120324	ENST00000239446	T	0.02050	4.48	3.53	3.53	0.40419	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.05960	0.0155	L	0.39898	1.24	0.29153	N	0.878233	D	0.89917	1.0	D	0.71870	0.975	T	0.23154	-1.0196	9	0.87932	D	0	.	4.7619	0.13111	0.1119:0.0:0.6076:0.2805	.	561	Q9UN67	PCDBA_HUMAN	M	561	ENSP00000239446:V561M	ENSP00000239446:V561M	V	+	1	0	PCDHB10	140553990	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-0.269000	0.08596	1.994000	0.58287	0.549000	0.68633	GTG	PCDHB10	-	superfamily_Cadherin-like,pfscan_Cadherin		0.731	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	G	NM_018930		140573806	+1	no_errors	ENST00000239446	ensembl	human	known	70_37	missense	SNP	0.894	A
PCSK7	9159	genome.wustl.edu	37	11	117076957	117076957	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:117076957T>C	ENST00000320934.3	-	17	2744	c.2114A>G	c.(2113-2115)cAc>cGc	p.H705R	PCSK7_ENST00000540028.1_3'UTR|PCSK7_ENST00000529458.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	705					peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATGGGGCCAGTGGCAGGGTCC	0.522			T	IGH@	MLCLS																																			Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													80.0	72.0	75.0					11																	117076957		2201	4296	6497	SO:0001583	missense	9159			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.2114A>G	11.37:g.117076957T>C	ENSP00000325917:p.His705Arg		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.H705R	ENST00000320934.3	37	c.2114	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	T	1.974	-0.435694	0.04669	.	.	ENSG00000160613	ENST00000320934	T	0.58652	0.32	4.85	-5.9	0.02275	.	0.862463	0.10311	N	0.689934	T	0.31199	0.0789	N	0.25647	0.755	0.44048	D	0.996782	B	0.02656	0.0	B	0.01281	0.0	T	0.13045	-1.0524	10	0.22706	T	0.39	-1.1385	1.4586	0.02391	0.25:0.3296:0.2666:0.1537	.	705	Q16549	PCSK7_HUMAN	R	705	ENSP00000325917:H705R	ENSP00000325917:H705R	H	-	2	0	PCSK7	116582167	0.768000	0.28519	0.762000	0.31397	0.658000	0.38924	0.026000	0.13599	-1.025000	0.03334	-0.333000	0.08304	CAC	PCSK7	-	NULL		0.522	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	T	NM_004716		117076957	-1	no_errors	ENST00000320934	ensembl	human	known	70_37	missense	SNP	0.674	C
PDE6D	5147	genome.wustl.edu	37	2	232597737	232597737	+	Silent	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:232597737G>A	ENST00000287600.4	-	5	572	c.378C>T	c.(376-378)aaC>aaT	p.N126N	PDE6D_ENST00000409772.1_Missense_Mutation_p.T91M	NM_002601.2	NP_002592.1	O43924	PDE6D_HUMAN	phosphodiesterase 6D, cGMP-specific, rod, delta	126					regulation of GTP catabolic process (GO:0033124)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|GTPase inhibitor activity (GO:0005095)|Rab GTPase binding (GO:0017137)			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		CTATGATAACGTTCCCACTGT	0.388																																																	0													91.0	97.0	95.0					2																	232597737		2203	4300	6503	SO:0001819	synonymous_variant	5147			AF045999	CCDS33398.1	2q35-q36	2014-04-28			ENSG00000156973	ENSG00000156973	3.1.4.17	"""Phosphodiesterases"""	8788	protein-coding gene	gene with protein product		602676				9533031, 9570951	Standard	NM_002601		Approved	JBTS22	uc002vse.1	O43924	OTTHUMG00000153785	ENST00000287600.4:c.378C>T	2.37:g.232597737G>A			O43250	Missense_Mutation	SNP	pfam_GMP_PDE_delta,superfamily_Ig_E-set	p.T91M	ENST00000287600.4	37	c.272	CCDS33398.1	2	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503812	0.64410	.	.	ENSG00000156973	ENST00000409772	.	.	.	5.28	-2.75	0.05914	.	.	.	.	.	T	0.43523	0.1251	.	.	.	0.24271	N	0.99524	.	.	.	.	.	.	T	0.47420	-0.9119	5	0.34782	T	0.22	-10.2232	13.4134	0.60956	0.477:0.0:0.523:0.0	.	.	.	.	M	91	.	ENSP00000387108:T91M	T	-	2	0	PDE6D	232305981	0.542000	0.26426	0.989000	0.46669	0.997000	0.91878	-0.139000	0.10358	-0.365000	0.08076	0.563000	0.77884	ACG	PDE6D	-	NULL		0.388	PDE6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6D	HGNC	protein_coding	OTTHUMT00000332407.1	G			232597737	-1	no_errors	ENST00000409772	ensembl	human	putative	70_37	missense	SNP	0.909	A
PEBP4	157310	genome.wustl.edu	37	8	22582443	22582443	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr8:22582443G>A	ENST00000256404.6	-	6	521	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	144						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		AAGCCACTGTGTGCCGGTGGG	0.527																																																	0													66.0	76.0	72.0					8																	22582443		2014	4162	6176	SO:0001583	missense	157310			BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.430C>T	8.37:g.22582443G>A	ENSP00000256404:p.His144Tyr		Q5EVA1|Q8WW74	Missense_Mutation	SNP	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP	p.H144Y	ENST00000256404.6	37	c.430	CCDS43724.1	8	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942773	0.34283	.	.	ENSG00000134020	ENST00000256404	T	0.41758	0.99	5.66	1.07	0.20283	.	1.110990	0.06779	N	0.784943	T	0.35189	0.0923	L	0.39898	1.24	0.09310	N	1	B	0.33212	0.402	B	0.32677	0.15	T	0.34179	-0.9839	10	0.59425	D	0.04	-1.6143	8.6204	0.33857	0.0:0.3602:0.371:0.2688	.	144	Q96S96	PEBP4_HUMAN	Y	144	ENSP00000256404:H144Y	ENSP00000256404:H144Y	H	-	1	0	PEBP4	22638388	0.000000	0.05858	0.000000	0.03702	0.118000	0.20060	-0.609000	0.05635	0.146000	0.19002	0.467000	0.42956	CAC	PEBP4	-	pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP		0.527	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEBP4	HGNC	protein_coding	OTTHUMT00000375141.2	G	NM_144962		22582443	-1	no_errors	ENST00000256404	ensembl	human	known	70_37	missense	SNP	0.000	A
PHC2	1912	genome.wustl.edu	37	1	33841026	33841026	+	Missense_Mutation	SNP	G	G	A	rs145654669		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:33841026G>A	ENST00000257118.5	-	1	168	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	PHC2_ENST00000419414.2_Missense_Mutation_p.R39C|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Missense_Mutation_p.R39C	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	39					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGGTGGGgcggccacttcca	0.557																																																	0								G	CYS/ARG	0,4406		0,0,2203	43.0	45.0	45.0		115	5.4	1.0	1	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	PHC2	NM_198040.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	39/859	33841026	1,13005	2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.115C>T	1.37:g.33841026G>A	ENSP00000257118:p.Arg39Cys		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R39C	ENST00000257118.5	37	c.115	CCDS378.1	1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768010	0.69878	0.0	1.16E-4	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000419414	T;T;T	0.37235	1.6;1.21;1.63	5.39	5.39	0.77823	.	0.275476	0.34314	N	0.004064	T	0.59689	0.2212	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.975	D;D;B	0.85130	0.997;0.993;0.432	T	0.62124	-0.6920	10	0.72032	D	0.01	-3.1454	16.6495	0.85185	0.0:0.0:1.0:0.0	.	39;39;39	A8KA40;B7ZLY0;Q8IXK0	.;.;PHC2_HUMAN	C	39	ENSP00000389436:R39C;ENSP00000257118:R39C;ENSP00000391440:R39C	ENSP00000257118:R39C	R	-	1	0	PHC2	33613613	1.000000	0.71417	0.998000	0.56505	0.556000	0.35491	5.527000	0.67123	2.517000	0.84864	0.462000	0.41574	CGC	PHC2	-	NULL		0.557	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	G	NM_198040		33841026	-1	no_errors	ENST00000419414	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	15	Substitution - Missense(13)|Deletion - In frame(2)	endometrium(8)|breast(2)|ovary(2)|large_intestine(1)|urinary_tract(1)|lung(1)											83.0	79.0	80.0					3																	178916944		1819	4069	5888	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.331A>G	3.37:g.178916944A>G	ENSP00000263967:p.Lys111Glu		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111E	ENST00000263967.3	37	c.331	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522008	0.85600	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76448	0.86;-1.02	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.87742	0.2586	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	E	111	ENSP00000263967:K111E;ENSP00000417479:K111E	.	K	+	1	0	PIK3CA	180399638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.089000	0.63090	0.454000	0.30748	AAG	PIK3CA	-	NULL		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178916944	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G
PJA1	64219	genome.wustl.edu	37	X	68382228	68382228	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chrX:68382228T>C	ENST00000361478.1	-	2	1231	c.854A>G	c.(853-855)cAc>cGc	p.H285R	PJA1_ENST00000374583.1_Missense_Mutation_p.H285R|PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_Missense_Mutation_p.H230R|PJA1_ENST00000374584.3_Intron	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	285					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GGAAGTACTGTGTGGCATATC	0.502																																																	0													84.0	71.0	75.0					X																	68382228		2203	4300	6503	SO:0001583	missense	64219			AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.854A>G	X.37:g.68382228T>C	ENSP00000355014:p.His285Arg		A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.H285R	ENST00000361478.1	37	c.854	CCDS14393.1	X	.	.	.	.	.	.	.	.	.	.	t	0.005	-2.201944	0.00296	.	.	ENSG00000181191	ENST00000396010;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T	0.05925	3.37;3.37;3.37	3.07	1.87	0.25490	.	0.649262	0.13314	U	0.397237	T	0.03011	0.0089	N	0.20530	0.585	0.09310	N	1	B	0.24618	0.107	B	0.20577	0.03	T	0.45041	-0.9288	10	0.02654	T	1	-2.1912	4.5018	0.11867	0.0:0.1598:0.0:0.8402	.	285	Q8NG27	PJA1_HUMAN	R	200;285;285;230	ENSP00000363711:H285R;ENSP00000355014:H285R;ENSP00000363699:H230R	ENSP00000355014:H285R	H	-	2	0	PJA1	68298953	0.984000	0.35163	0.168000	0.22838	0.721000	0.41392	1.590000	0.36654	0.433000	0.26313	0.299000	0.19835	CAC	PJA1	-	NULL		0.502	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PJA1	HGNC	protein_coding	OTTHUMT00000057031.2	T	NM_145119		68382228	-1	no_errors	ENST00000361478	ensembl	human	known	70_37	missense	SNP	0.152	C
PTEN	5728	genome.wustl.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292|rs121909229		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	151	Substitution - Missense(81)|Whole gene deletion(37)|Deletion - Frameshift(23)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(1)	endometrium(77)|prostate(18)|central_nervous_system(16)|lung(7)|breast(7)|ovary(7)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|thyroid(2)|soft_tissue(2)|urinary_tract(1)	GRCh37	CM981670|CM991081	PTEN	M	rs121909229						139.0	129.0	133.0					10																	89692905		2203	4300	6503	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.389G>A	10.37:g.89692905G>A	ENSP00000361021:p.Arg130Gln		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R130Q	ENST00000371953.3	37	c.389	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.637233	0.96693	.	.	ENSG00000171862	ENST00000371953	D	0.98345	-4.88	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99378	0.9781	H	0.96889	3.9	0.80722	A	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98503	1.0615	8	.	.	.	-1.7685	18.7776	0.91918	0.0:0.0:1.0:0.0	.	130	P60484	PTEN_HUMAN	Q	130	ENSP00000361021:R130Q	.	R	+	2	0	PTEN	89682885	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	CGA	PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	G	NM_000314		89692905	+1	no_errors	ENST00000371953	ensembl	human	known	70_37	missense	SNP	1.000	A
PNLIP	5406	genome.wustl.edu	37	10	118319999	118319999	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr10:118319999G>A	ENST00000369221.2	+	11	1160	c.1132G>A	c.(1132-1134)Gga>Aga	p.G378R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	378	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TTCTTTGTTCGGAAATAAAGG	0.343																																																	0													81.0	85.0	83.0					10																	118319999		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.1132G>A	10.37:g.118319999G>A	ENSP00000358223:p.Gly378Arg		Q5VSQ2	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc	p.G378R	ENST00000369221.2	37	c.1132	CCDS7594.1	10	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830525	0.71258	.	.	ENSG00000175535	ENST00000369221	T	0.75704	-0.96	5.9	5.9	0.94986	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.64402	D	0.000002	D	0.89301	0.6676	M	0.91090	3.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.90943	0.4799	10	0.87932	D	0	.	17.1989	0.86901	0.0:0.0:1.0:0.0	.	378	P16233	LIPP_HUMAN	R	378	ENSP00000358223:G378R	ENSP00000358223:G378R	G	+	1	0	PNLIP	118309989	1.000000	0.71417	0.992000	0.48379	0.624000	0.37722	3.626000	0.54245	2.806000	0.96561	0.655000	0.94253	GGA	PNLIP	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2		0.343	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIP	HGNC	protein_coding	OTTHUMT00000050524.1	G	NM_000936		118319999	+1	no_errors	ENST00000369221	ensembl	human	known	70_37	missense	SNP	1.000	A
QSER1	79832	genome.wustl.edu	37	11	32995031	32995031	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:32995031T>C	ENST00000399302.2	+	11	5242	c.4907T>C	c.(4906-4908)aTg>aCg	p.M1636T	QSER1_ENST00000527788.1_Missense_Mutation_p.M1397T	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1636										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAAATCAAAATGAATGGCAAA	0.313																																																	0													75.0	70.0	72.0					11																	32995031		1816	4070	5886	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4907T>C	11.37:g.32995031T>C	ENSP00000382241:p.Met1636Thr		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.M1636T	ENST00000399302.2	37	c.4907	CCDS41631.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.11|16.11	3.029512|3.029512	0.54790|0.54790	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000527788|ENST00000524678	T;T|.	0.42513|.	0.97;0.97|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.337180|.	0.20223|.	U|.	0.096647|.	T|.	0.58524|.	0.2128|.	L|L	0.36672|0.36672	1.1|1.1	0.44188|0.44188	D|D	0.997008|0.997008	P;P|.	0.43231|.	0.628;0.801|.	B;B|.	0.37508|.	0.16;0.252|.	T|.	0.55283|.	-0.8165|.	10|.	0.59425|.	D|.	0.04|.	.|.	15.6434|15.6434	0.77025|0.77025	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1397;1636|.	Q2KHR3-2;Q2KHR3|.	.;QSER1_HUMAN|.	T|R	1636;1397|657	ENSP00000382241:M1636T;ENSP00000432766:M1397T|.	ENSP00000382241:M1636T|.	M|X	+|+	2|1	0|0	QSER1|QSER1	32951607|32951607	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.924000|0.924000	0.55760|0.55760	6.986000|6.986000	0.76200|0.76200	2.104000|2.104000	0.64026|0.64026	0.533000|0.533000	0.62120|0.62120	ATG|TGA	QSER1	-	NULL		0.313	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	T	NM_024774		32995031	+1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM23	55147	genome.wustl.edu	37	14	23371498	23371498	+	Nonsense_Mutation	SNP	G	G	A	rs369939080		TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr14:23371498G>A	ENST00000359890.3	-	11	1219	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	RBM23_ENST00000399922.2_Nonsense_Mutation_p.R326*|RBM23_ENST00000542016.2_Nonsense_Mutation_p.R172*|RBM23_ENST00000346528.5_Nonsense_Mutation_p.R308*|RBM23_ENST00000555209.1_Nonsense_Mutation_p.R92*	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	342					mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CCATCCAGTCGCTCAGTCACA	0.547																																																	0								G	stop/ARG,stop/ARG,stop/ARG	0,4026		0,0,2013	73.0	72.0	72.0		1024,922,976	1.7	0.0	14		72	1,8395		0,1,4197	no	stop-gained,stop-gained,stop-gained	RBM23	NM_001077351.1,NM_001077352.1,NM_018107.4	,,	0,1,6210	AA,AG,GG		0.0119,0.0,0.0081	,,	342/440,308/406,326/424	23371498	1,12421	2013	4198	6211	SO:0001587	stop_gained	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1024C>T	14.37:g.23371498G>A	ENSP00000352956:p.Arg342*		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF	p.R342*	ENST00000359890.3	37	c.1024	CCDS41921.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.83|19.83	3.900721|3.900721	0.72754|0.72754	0.0|0.0	1.19E-4|1.19E-4	ENSG00000100461|ENSG00000100461	ENST00000553884|ENST00000555209;ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016	.|.	.|.	.|.	4.82|4.82	1.74|1.74	0.24563|0.24563	.|.	.|0.157290	.|0.29940	.|N	.|0.010811	T|.	0.21761|.	0.0524|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36962|.	-0.9726|.	3|.	.|0.02654	.|T	.|1	-1.8865|-1.8865	9.2666|9.2666	0.37645|0.37645	0.0802:0.2623:0.6575:0.0|0.0802:0.2623:0.6575:0.0	.|.	.|.	.|.	.|.	V|X	116|92;342;319;326;308;172	.|.	.|ENSP00000345496:R319X	A|R	-|-	2|1	0|2	RBM23|RBM23	22441338|22441338	0.949000|0.949000	0.32298|0.32298	0.040000|0.040000	0.18447|0.18447	0.020000|0.020000	0.10135|0.10135	1.898000|1.898000	0.39809|0.39809	0.573000|0.573000	0.29400|0.29400	0.563000|0.563000	0.77884|0.77884	GCG|CGA	RBM23	-	tigrfam_CC1_SF		0.547	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM23	HGNC	protein_coding	OTTHUMT00000413545.3	G			23371498	-1	no_errors	ENST00000359890	ensembl	human	known	70_37	nonsense	SNP	0.945	A
REG1B	5968	genome.wustl.edu	37	2	79313499	79313499	+	Silent	SNP	T	T	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:79313499T>G	ENST00000305089.3	-	4	395	c.315A>C	c.(313-315)ccA>ccC	p.P105P		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	105	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGACCTTTTTTGGGTCATGGA	0.493																																																	0													97.0	87.0	91.0					2																	79313499		2203	4300	6503	SO:0001819	synonymous_variant	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.315A>C	2.37:g.79313499T>G				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P105	ENST00000305089.3	37	c.315	CCDS1963.1	2																																																																																			REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	T	NM_006507		79313499	-1	no_errors	ENST00000305089	ensembl	human	known	70_37	silent	SNP	0.001	G
SGOL1	151648	genome.wustl.edu	37	3	20212755	20212755	+	Intron	DEL	A	A	-	rs202135893|rs369158870	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr3:20212755delA	ENST00000263753.4	-	7	1422				SGOL1_ENST00000412868.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000421451.1_Intron|SGOL1_ENST00000412997.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)						attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AATATGATTTAAAAAAAAAAA	0.308																																																	0													26.0	28.0	27.0					3																	20212755		2201	4297	6498	SO:0001627	intron_variant	151648			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1283-31T>-	3.37:g.20212755delA			Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	RNA	DEL	-	NULL	ENST00000263753.4	37	NULL	CCDS33716.1	3																																																																																			SGOL1	-	-		0.308	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	A	NM_138484		20212755	-1	no_errors	ENST00000460637	ensembl	human	putative	70_37	rna	DEL	0.000	-
SOX17	64321	genome.wustl.edu	37	8	55370985	55370985	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr8:55370985C>G	ENST00000297316.4	+	1	491	c.287C>G	c.(286-288)gCc>gGc	p.A96G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	96					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A96G(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CTGCACAACGCCGAGTTGAGC	0.627																																																	1	Substitution - Missense(1)	endometrium(1)											22.0	25.0	24.0					8																	55370985		2202	4298	6500	SO:0001583	missense	64321			AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.287C>G	8.37:g.55370985C>G	ENSP00000297316:p.Ala96Gly			Missense_Mutation	SNP	pfam_Sox_C_TAD,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.A96G	ENST00000297316.4	37	c.287	CCDS6159.1	8	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004501	0.93287	.	.	ENSG00000164736	ENST00000297316	D	0.98135	-4.74	4.45	4.45	0.53987	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.72032	D	0.01	.	17.2655	0.87085	0.0:1.0:0.0:0.0	.	96	Q9H6I2	SOX17_HUMAN	G	96	ENSP00000297316:A96G	ENSP00000297316:A96G	A	+	2	0	SOX17	55533538	1.000000	0.71417	0.947000	0.38551	0.592000	0.36648	7.381000	0.79718	2.464000	0.83262	0.561000	0.74099	GCC	SOX17	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.627	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	HGNC	protein_coding	OTTHUMT00000378526.2	C			55370985	+1	no_errors	ENST00000297316	ensembl	human	known	70_37	missense	SNP	1.000	G
SPRYD3	84926	genome.wustl.edu	37	12	53468542	53468542	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr12:53468542C>T	ENST00000301463.4	-	5	484	c.398G>A	c.(397-399)cGc>cAc	p.R133H	SPRYD3_ENST00000547837.1_Missense_Mutation_p.R170H	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	133	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCCAAACTGGCGGCCCTTGGC	0.572																																																	0													62.0	67.0	66.0					12																	53468542		2203	4300	6503	SO:0001583	missense	84926			AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.398G>A	12.37:g.53468542C>T	ENSP00000301463:p.Arg133His		B9EG99|Q96SK5	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	p.R133H	ENST00000301463.4	37	c.398	CCDS8845.1	12	.	.	.	.	.	.	.	.	.	.	C	17.91	3.503948	0.64410	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.11277	2.79;2.79	5.08	4.18	0.49190	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.196306	0.42682	D	0.000676	T	0.13329	0.0323	L	0.56199	1.76	0.48185	D	0.999604	P	0.48294	0.908	B	0.42282	0.382	T	0.02966	-1.1088	10	0.49607	T	0.09	-18.2043	13.0843	0.59132	0.1615:0.8385:0.0:0.0	.	133	Q8NCJ5	SPRY3_HUMAN	H	133;170	ENSP00000301463:R133H;ENSP00000449452:R170H	ENSP00000301463:R133H	R	-	2	0	SPRYD3	51754809	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.928000	0.63447	1.507000	0.48752	0.561000	0.74099	CGC	SPRYD3	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.572	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRYD3	HGNC	protein_coding	OTTHUMT00000407264.1	C	NM_032840		53468542	-1	no_errors	ENST00000301463	ensembl	human	known	70_37	missense	SNP	0.998	T
STAT5A	6776	genome.wustl.edu	37	17	40452767	40452767	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr17:40452767C>T	ENST00000345506.4	+	9	1510	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	STAT5A_ENST00000452307.2_Missense_Mutation_p.R290W|STAT5A_ENST00000588868.1_Missense_Mutation_p.R290W|STAT5A_ENST00000546010.2_Missense_Mutation_p.R260W|STAT5A_ENST00000590949.1_Missense_Mutation_p.R290W	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	290					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CTGGCAGAACCGGCAGCAGAT	0.632																																																	0													45.0	37.0	40.0					17																	40452767		2203	4294	6497	SO:0001583	missense	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.868C>T	17.37:g.40452767C>T	ENSP00000341208:p.Arg290Trp		Q1KLZ6	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.R290W	ENST00000345506.4	37	c.868	CCDS11424.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055396	0.75960	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.70045	-0.45;-0.45;-0.45	4.39	4.39	0.52855	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	D	0.83064	0.5173	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	D	0.86705	0.1932	10	0.87932	D	0	-11.3293	17.0006	0.86380	0.0:1.0:0.0:0.0	.	260;292;290	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	W	290;260;292;290	ENSP00000341208:R290W;ENSP00000443107:R260W;ENSP00000400320:R290W	ENSP00000341208:R290W	R	+	1	2	STAT5A	37706293	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.859000	0.48364	1.984000	0.57885	0.306000	0.20318	CGG	STAT5A	-	pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil		0.632	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAT5A	HGNC	protein_coding	OTTHUMT00000319804.1	C	NM_003152		40452767	+1	no_errors	ENST00000345506	ensembl	human	known	70_37	missense	SNP	1.000	T
TGFB3	7043	genome.wustl.edu	37	14	76437563	76437563	+	Silent	SNP	G	G	C			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr14:76437563G>C	ENST00000238682.3	-	3	849	c.552C>G	c.(550-552)cgC>cgG	p.R184R	RP11-270M14.5_ENST00000553732.1_lincRNA|TGFB3_ENST00000556285.1_Silent_p.R184R	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	184					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CACCGATATAGCGCTGTTTGG	0.547																																																	0													108.0	83.0	91.0					14																	76437563		2203	4300	6503	SO:0001819	synonymous_variant	7043				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.552C>G	14.37:g.76437563G>C			Q8WV88	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta	p.R184	ENST00000238682.3	37	c.552	CCDS9846.1	14																																																																																			TGFB3	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta		0.547	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	G	NM_003239		76437563	-1	no_errors	ENST00000238682	ensembl	human	known	70_37	silent	SNP	1.000	C
THAP4	51078	genome.wustl.edu	37	2	242572605	242572605	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr2:242572605C>T	ENST00000407315.1	-	2	1398	c.967G>A	c.(967-969)Gcc>Acc	p.A323T		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	323							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGGGCTGGCGTCGCTGTGC	0.642																																																	0													69.0	74.0	72.0					2																	242572605		2203	4296	6499	SO:0001583	missense	51078			AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.967G>A	2.37:g.242572605C>T	ENSP00000385006:p.Ala323Thr		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH	p.A323T	ENST00000407315.1	37	c.967	CCDS2551.1	2	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705446	0.68615	.	.	ENSG00000176946	ENST00000407315	D	0.96856	-4.15	5.49	4.61	0.57282	.	0.435532	0.19750	N	0.106933	D	0.93426	0.7903	L	0.32530	0.975	0.80722	D	1	D	0.62365	0.991	P	0.44394	0.448	D	0.92965	0.6392	10	0.54805	T	0.06	-35.1237	12.9925	0.58627	0.0:0.925:0.0:0.075	.	323	Q8WY91	THAP4_HUMAN	T	323	ENSP00000385006:A323T	ENSP00000385006:A323T	A	-	1	0	THAP4	242221278	1.000000	0.71417	0.918000	0.36340	0.396000	0.30629	2.922000	0.48860	1.476000	0.48215	0.650000	0.86243	GCC	THAP4	-	NULL		0.642	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP4	HGNC	protein_coding	OTTHUMT00000257267.3	C	NM_015963		242572605	-1	no_errors	ENST00000407315	ensembl	human	known	70_37	missense	SNP	0.996	T
TRIM2	23321	genome.wustl.edu	37	4	154197120	154197120	+	Silent	SNP	C	C	T	rs370159648	byFrequency	TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr4:154197120C>T	ENST00000437508.2	+	3	411	c.210C>T	c.(208-210)ccC>ccT	p.P70P	TRIM2_ENST00000338700.5_Silent_p.P97P|TRIM2_ENST00000494872.1_3'UTR	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	70					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P97P(1)|p.P70P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCATCCTGCCCGAGAAAGGGG	0.577													C|||	2	0.000399361	0.0	0.0	5008	,	,		19120	0.0		0.0	False		,,,				2504	0.002																2	Substitution - coding silent(2)	lung(2)						C	,	0,4406		0,0,2203	75.0	70.0	71.0		210,291	3.7	1.0	4		71	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TRIM2	NM_001130067.1,NM_015271.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	70/745,97/772	154197120	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23321			AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.210C>T	4.37:g.154197120C>T			D3DP09|O60272|Q9BSI9|Q9UFZ1	Silent	SNP	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.P97	ENST00000437508.2	37	c.291	CCDS47147.1	4																																																																																			TRIM2	-	NULL		0.577	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM2	HGNC	protein_coding	OTTHUMT00000342652.1	C			154197120	+1	no_errors	ENST00000338700	ensembl	human	known	70_37	silent	SNP	1.000	T
TTC22	55001	genome.wustl.edu	37	1	55266581	55266581	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr1:55266581delG	ENST00000371276.4	-	1	359	c.256delC	c.(256-258)cgcfs	p.R86fs	TTC22_ENST00000371274.4_Frame_Shift_Del_p.R86fs	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	86										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						AAGCACTCGCGGGCCTCGTCC	0.692																																																	0													12.0	14.0	13.0					1																	55266581		2191	4283	6474	SO:0001589	frameshift_variant	55001			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.256delC	1.37:g.55266581delG	ENSP00000360323:p.Arg86fs		Q9NWT4	Frame_Shift_Del	DEL	smart_TPR_repeat	p.R86fs	ENST00000371276.4	37	c.256	CCDS44152.1	1																																																																																			TTC22	-	smart_TPR_repeat		0.692	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	HGNC	protein_coding	OTTHUMT00000027438.1	G	NM_017904		55266581	-1	no_errors	ENST00000371276	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
UPK2	7379	genome.wustl.edu	37	11	118828883	118828883	+	Silent	SNP	C	C	T			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr11:118828883C>T	ENST00000264031.2	+	5	530	c.495C>T	c.(493-495)gtC>gtT	p.V165V	UPK2_ENST00000534788.1_3'UTR	NM_006760.3	NP_006751.1	O00526	UPK2_HUMAN	uroplakin 2	165					epithelial cell differentiation (GO:0030855)|membrane organization (GO:0061024)|multicellular organismal development (GO:0007275)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TGCTCTCTGTCGCCATGTTCC	0.607																																																	0													126.0	105.0	112.0					11																	118828883		2200	4295	6495	SO:0001819	synonymous_variant	7379			Y13645	CCDS8404.1	11q23	2008-07-21				ENSG00000110375			12579	protein-coding gene	gene with protein product	"""uroplakin II"", ""uroplakin-2"""	611558				9515818, 9846985	Standard	NM_006760		Approved	UP2, UPII, MGC138598	uc001puh.3	O00526		ENST00000264031.2:c.495C>T	11.37:g.118828883C>T			B0YJ92|O00457|Q53YV0	Silent	SNP	pfam_Uroplakin_II,pirsf_Uroplakin_II	p.V165	ENST00000264031.2	37	c.495	CCDS8404.1	11																																																																																			UPK2	-	pfam_Uroplakin_II,pirsf_Uroplakin_II		0.607	UPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UPK2	HGNC	protein_coding	OTTHUMT00000389311.1	C	NM_006760		118828883	+1	no_errors	ENST00000264031	ensembl	human	known	70_37	silent	SNP	0.323	T
ZNF331	55422	genome.wustl.edu	37	19	54080494	54080494	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A4BA-01A-21D-A26G-09	TCGA-EA-A4BA-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2c562265-1507-4db5-a860-7f5957062943	064a0bfd-273b-4043-a48b-323703069f1e	g.chr19:54080494G>A	ENST00000253144.9	+	7	2013	c.680G>A	c.(679-681)gGt>gAt	p.G227D	ZNF331_ENST00000511154.1_Missense_Mutation_p.G227D|ZNF331_ENST00000511593.2_Missense_Mutation_p.G227D|ZNF331_ENST00000449416.1_Missense_Mutation_p.G227D|ZNF331_ENST00000411977.2_Missense_Mutation_p.G227D|ZNF331_ENST00000513999.1_Missense_Mutation_p.G227D|ZNF331_ENST00000512387.1_Missense_Mutation_p.G227D|ZNF331_ENST00000513265.1_Intron	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TTTCGGCGTGGTGATGAGCTC	0.458			T	?	follicular thyroid adenoma																																			Dom	yes		19	19q13.3-q13.4	55422	zinc finger protein 331		E	0													59.0	64.0	62.0					19																	54080494		2203	4300	6503	SO:0001583	missense	55422			AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.680G>A	19.37:g.54080494G>A	ENSP00000253144:p.Gly227Asp		Q96GJ4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G227D	ENST00000253144.9	37	c.680	CCDS33102.1	19	.	.	.	.	.	.	.	.	.	.	G	8.592	0.884730	0.17540	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	3.68	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35739	N	0.003015	T	0.25938	0.0632	N	0.25789	0.76	0.09310	N	1	P	0.47409	0.895	B	0.38842	0.283	T	0.13602	-1.0503	10	0.37606	T	0.19	.	9.3384	0.38065	0.0:0.2205:0.7795:0.0	.	227	Q9NQX6	ZN331_HUMAN	D	227	ENSP00000253144:G227D;ENSP00000427439:G227D;ENSP00000393817:G227D;ENSP00000393336:G227D;ENSP00000421014:G227D;ENSP00000423156:G227D;ENSP00000421728:G227D	ENSP00000253144:G227D	G	+	2	0	ZNF331	58772306	0.000000	0.05858	0.124000	0.21820	0.832000	0.47134	-0.256000	0.08757	2.049000	0.60858	0.563000	0.77884	GGT	ZNF331	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.458	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF331	HGNC	protein_coding	OTTHUMT00000371366.1	G	NM_018555		54080494	+1	no_errors	ENST00000253144	ensembl	human	known	70_37	missense	SNP	0.009	A
