#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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BTN2A3P	54718	genome.wustl.edu	37	6	26423560	26423560	+	RNA	SNP	C	C	T	rs4320356	byFrequency	TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr6:26423560C>T	ENST00000466808.2	+	0	424							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											TTGGGTAAAGCTTCTCTTCTA	0.502													T|||	2501	0.499401	0.8434	0.4207	5008	,	,		23784	0.2679		0.4503	False		,,,				2504	0.3793					dbGAP											0																																										-	-	-			0			AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26423560C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEF4	RNA	SNP	-	NULL	ENST00000466808.2	37	NULL		6																																																																																			BTN2A3P	-	-	ENSG00000124549		0.502	BTN2A3P-001	KNOWN	basic	processed_transcript	BTN2A3P	HGNC	pseudogene	OTTHUMT00000040118.4	106	0.93	1	C	NR_027795		26423560	26423560	+1	no_errors	ENST00000465856	ensembl	human	known	69_37n	rna	82	10.87	10	SNP	0.000	T
CAPN2	824	genome.wustl.edu	37	1	223962929	223962929	+	3'UTR	SNP	G	G	A	rs10961	byFrequency	TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr1:223962929G>A	ENST00000295006.5	+	0	2782				CAPN2_ENST00000433674.2_3'UTR|CAPN2_ENST00000474026.1_3'UTR	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit						blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ACATTGAGTCGCTCTCAAAGG	0.368													A|||	2721	0.543331	0.8812	0.4841	5008	,	,		19000	0.4673		0.4235	False		,,,				2504	0.3303					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.*370G>A	1.37:g.223962929G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	RNA	SNP	-	NULL	ENST00000295006.5	37	NULL	CCDS31035.1	1																																																																																			CAPN2	-	-	ENSG00000162909		0.368	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	37	0.00	0	G	NM_001748		223962929	223962929	+1	no_errors	ENST00000463997	ensembl	human	known	69_37n	rna	44	10.20	5	SNP	0.000	A
CDH1	999	genome.wustl.edu	37	16	68863630	68863630	+	Frame_Shift_Del	DEL	C	C	-	rs587780120		TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr16:68863630delC	ENST00000261769.5	+	15	2560	c.2369delC	c.(2368-2370)accfs	p.T790fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.T729fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	790					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GTTGCACCAACCCTCATGAGT	0.498			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													92.0	78.0	83.0					16																	68863630		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2369delC	16.37:g.68863630delC	ENSP00000261769:p.Thr790fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L791fs	ENST00000261769.5	37	c.2369	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000039068		0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	67	0.00	0	C	NM_004360		68863630	68863630	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	36	21.28	10	DEL	0.956	-
CDKL5	6792	genome.wustl.edu	37	X	18622482	18622482	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chrX:18622482C>T	ENST00000379989.3	+	13	1723	c.1438C>T	c.(1438-1440)Ccc>Tcc	p.P480S	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.P480S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	480					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTCTAGGAGTCCCTCCTACAG	0.522																																						dbGAP											0													109.0	101.0	104.0					X																	18622482		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1438C>T	X.37:g.18622482C>T	ENSP00000369325:p.Pro480Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P480S	ENST00000379989.3	37	c.1438	CCDS14186.1	X	.	.	.	.	.	.	.	.	.	.	C	11.65	1.703005	0.30232	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.68479	-0.33;-0.33	6.06	6.06	0.98353	.	0.202458	0.53938	D	0.000046	T	0.48150	0.1484	N	0.08118	0	0.31705	N	0.640238	B	0.24426	0.103	B	0.24848	0.056	T	0.54344	-0.8308	10	0.34782	T	0.22	-18.6418	14.3577	0.66748	0.1477:0.8523:0.0:0.0	.	480	O76039	CDKL5_HUMAN	S	480	ENSP00000369332:P480S;ENSP00000369325:P480S	ENSP00000369325:P480S	P	+	1	0	CDKL5	18532403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.357000	0.52277	2.562000	0.86427	0.600000	0.82982	CCC	CDKL5	-	NULL	ENSG00000008086		0.522	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	18	0.00	0	C	NM_003159		18622482	18622482	+1	no_errors	ENST00000379989	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	1.000	T
DHX35	60625	genome.wustl.edu	37	20	37662882	37662882	+	Silent	SNP	G	G	A			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr20:37662882G>A	ENST00000252011.3	+	21	2022	c.1989G>A	c.(1987-1989)aaG>aaA	p.K663K	DHX35_ENST00000373325.2_Silent_p.K639K|DHX35_ENST00000373323.4_Silent_p.K632K	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	663					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGACCTCCAAGTACTACATGA	0.453																																						dbGAP											0													113.0	104.0	107.0					20																	37662882		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1989G>A	20.37:g.37662882G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K663	ENST00000252011.3	37	c.1989	CCDS13310.1	20																																																																																			DHX35	-	pfam_DUF1605	ENSG00000101452		0.453	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX35	HGNC	protein_coding	OTTHUMT00000079212.2	32	0.00	0	G	NM_021931		37662882	37662882	+1	no_errors	ENST00000252011	ensembl	human	known	69_37n	silent	46	11.54	6	SNP	1.000	A
DNAJC11	55735	genome.wustl.edu	37	1	6695221	6695221	+	3'UTR	SNP	A	A	T			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr1:6695221A>T	ENST00000377577.5	-	0	2317				DNAJC11_ENST00000349363.6_Intron|THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000294401.7_3'UTR|DNAJC11_ENST00000465508.1_5'UTR	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGCTCCAGATTCAAGCAGT	0.493											OREG0013046	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.*514T>A	1.37:g.6695221A>T		Somatic	636	WXS	Illumina GAIIx	Phase_IV	Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	RNA	SNP	-	NULL	ENST00000377577.5	37	NULL	CCDS87.1	1																																																																																			DNAJC11	-	-	ENSG00000007923		0.493	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	18	0.00	0	A	NM_018198		6695221	6695221	-1	no_errors	ENST00000465508	ensembl	human	known	69_37n	rna	19	20.83	5	SNP	0.024	T
DRD2	1813	genome.wustl.edu	37	11	113281554	113281554	+	Silent	SNP	G	G	A			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr11:113281554G>A	ENST00000362072.3	-	8	1571	c.1227C>T	c.(1225-1227)agC>agT	p.S409S	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Silent_p.S380S|DRD2_ENST00000355319.2_Silent_p.S411S|DRD2_ENST00000538967.1_Silent_p.S411S|DRD2_ENST00000544518.1_Silent_p.S408S|DRD2_ENST00000542968.1_Silent_p.S409S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	409					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACGTGAAGGCGCTGTACAGGA	0.552																																						dbGAP											0													248.0	182.0	204.0					11																	113281554		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1227C>T	11.37:g.113281554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NZR3|Q9UPA9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.S411	ENST00000362072.3	37	c.1233	CCDS8361.1	11																																																																																			DRD2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt	ENSG00000149295		0.552	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	HGNC	protein_coding	OTTHUMT00000395834.1	64	0.00	0	G	NM_000795		113281554	113281554	-1	no_errors	ENST00000355319	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	1.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102508353	102508353	+	Nonsense_Mutation	SNP	A	A	T			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr14:102508353A>T	ENST00000360184.4	+	66	12270	c.12106A>T	c.(12106-12108)Aag>Tag	p.K4036*	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4036	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGCAGGTGAAGCCCAACAC	0.507																																						dbGAP											0													113.0	88.0	97.0					14																	102508353		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12106A>T	14.37:g.102508353A>T	ENSP00000348965:p.Lys4036*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.K4036*	ENST00000360184.4	37	c.12106	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	54	22.965624	0.99952	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	16.3512	0.83208	1.0:0.0:0.0:0.0	.	.	.	.	X	4036	.	ENSP00000348965:K4036X	K	+	1	0	DYNC1H1	101578106	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.339000	0.96797	2.266000	0.75297	0.533000	0.62120	AAG	DYNC1H1	-	pfam_Dynein_heavy	ENSG00000197102		0.507	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	47	0.00	0	A	NM_001376		102508353	102508353	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	nonsense	40	13.04	6	SNP	1.000	T
ZNF273	10793	genome.wustl.edu	37	7	64349093	64349093	+	Intron	SNP	C	C	T			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr7:64349093C>T	ENST00000527278.1	+	2	293				RP11-797H7.5_ENST00000340779.3_RNA			Q14593	ZN273_HUMAN	zinc finger protein 273						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGGAGGACAGCGGGATGGGAG	0.662																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000527278.1:c.294-4697C>T	7.37:g.64349093C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQZ5|Q6P3V4	RNA	SNP	-	NULL	ENST00000527278.1	37	NULL		7																																																																																			RP11-797H7.5	-	-	ENSG00000189316		0.662	ZNF273-002	KNOWN	basic	processed_transcript	ENSG00000189316	Clone_based_vega_gene	protein_coding	OTTHUMT00000313503.2	87	0.00	0	C			64349093	64349093	-1	no_errors	ENST00000340779	ensembl	human	known	69_37n	rna	83	17.00	17	SNP	0.080	T
FAM118A	55007	genome.wustl.edu	37	22	45736434	45736434	+	3'UTR	SNP	C	C	G	rs1056322	byFrequency	TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr22:45736434C>G	ENST00000216214.3	+	0	2056				FAM118A_ENST00000441876.2_3'UTR	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGTGGCCCTCAAGGCTGGGT	0.537													C|||	2744	0.547923	0.8805	0.3833	5008	,	,		18710	0.5109		0.3479	False		,,,				2504	0.4591					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.*148C>G	22.37:g.45736434C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWG4|B4DY02|Q5TII5|Q96CY3	RNA	SNP	-	NULL	ENST00000216214.3	37	NULL	CCDS14065.1	22																																																																																			FAM118A	-	-	ENSG00000100376		0.537	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM118A	HGNC	protein_coding	OTTHUMT00000322260.1	66	0.00	0	C	NM_017911		45736434	45736434	+1	no_errors	ENST00000479180	ensembl	human	known	69_37n	rna	44	12.00	6	SNP	0.020	G
FAM186A	121006	genome.wustl.edu	37	12	50747134	50747134	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr12:50747134T>G	ENST00000327337.5	-	4	3480	c.3481A>C	c.(3481-3483)Act>Cct	p.T1161P	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Missense_Mutation_p.T1161P	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1161																	GCCTGCTGAGTGGTGAGAGAG	0.647																																					NSCLC(138;1796 1887 12511 19463 37884)	dbGAP											0													36.0	32.0	33.0					12																	50747134		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.3481A>C	12.37:g.50747134T>G	ENSP00000329995:p.Thr1161Pro	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.T1161P	ENST00000327337.5	37	c.3481	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	t	3.587	-0.084338	0.07097	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.04406	3.63;3.63	3.81	-3.58	0.04597	.	.	.	.	.	T	0.01189	0.0039	N	0.01874	-0.695	0.29658	N	0.843448	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.46303	-0.9201	9	0.02654	T	1	.	0.9588	0.01391	0.1962:0.1407:0.228:0.4351	.	1161;1161	F5GYN0;A6NE01	.;F186A_HUMAN	P	1161	ENSP00000441337:T1161P;ENSP00000329995:T1161P	ENSP00000329995:T1161P	T	-	1	0	FAM186A	49033401	0.021000	0.18746	0.148000	0.22405	0.014000	0.08584	0.048000	0.14078	-0.485000	0.06754	-0.563000	0.04171	ACT	FAM186A	-	NULL	ENSG00000185958		0.647	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	76	0.00	0	T	XM_001718353		50747134	50747134	-1	no_errors	ENST00000327337	ensembl	human	known	69_37n	missense	72	10.00	8	SNP	0.476	G
LINC00898	400932	genome.wustl.edu	37	22	48023297	48023297	+	lincRNA	SNP	A	A	G	rs12053799	byFrequency	TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr22:48023297A>G	ENST00000380990.1	-	0	2271					NR_033377.1				long intergenic non-protein coding RNA 898																		TGCTGGAGGAATGAGTGTCAG	0.507													A|||	1481	0.295727	0.4501	0.2017	5008	,	,		18936	0.2361		0.2664	False		,,,				2504	0.2454					dbGAP											0																																										-	-	-			0					22q13.31	2013-05-17			ENSG00000205634	ENSG00000205634		"""Long non-coding RNAs"""	48581	non-coding RNA	RNA, long non-coding							Standard	NR_033377		Approved				OTTHUMG00000150323		22.37:g.48023297A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000380990.1	37	NULL		22																																																																																			RP11-191L9.6	-	-	ENSG00000205634		0.507	LINC00898-001	KNOWN	basic	lincRNA	FLJ46257	Clone_based_vega_gene	lincRNA	OTTHUMT00000317560.1	52	0.00	0	A			48023297	48023297	-1	no_errors	ENST00000380990	ensembl	human	known	69_37n	rna	20	13.04	3	SNP	0.005	G
CMTR2	55783	genome.wustl.edu	37	16	71319817	71319818	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr16:71319817_71319818insA	ENST00000338099.5	-	3	342_343	c.6_7insT	c.(4-9)agtaagfs	p.K3fs	CMTR2_ENST00000434935.2_Frame_Shift_Ins_p.K3fs			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	3					7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)										TTTCTGCACTTACTCATTTTCA	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.7dupT	16.37:g.71319818_71319818dupA	ENSP00000337512:p.Lys3fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Frame_Shift_Ins	INS	pfam_rRNA_MeTrfase_FtsJ_dom	p.K2fs	ENST00000338099.5	37	c.7_6	CCDS10898.1	16																																																																																			FTSJD1	-	NULL	ENSG00000180917		0.356	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJD1	HGNC	protein_coding	OTTHUMT00000268984.2	28	0.00	0	-	NM_018348		71319817	71319818	-1	no_errors	ENST00000338099	ensembl	human	known	69_37n	frame_shift_ins	12	20.00	3	INS	1.000:0.997	A
FUT3	2525	genome.wustl.edu	37	19	5844672	5844672	+	Missense_Mutation	SNP	C	C	G	rs148881389	byFrequency	TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr19:5844672C>G	ENST00000303225.6	-	3	813	c.179G>C	c.(178-180)cGc>cCc	p.R60P	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000458379.2_Missense_Mutation_p.R60P|FUT3_ENST00000589620.1_Missense_Mutation_p.R60P|FUT3_ENST00000589918.1_Missense_Mutation_p.R60P|AC024592.9_ENST00000589276.1_RNA	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	60					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGGTGGGGCGGGTGGGAGT	0.632																																					Esophageal Squamous(82;745 1728 24593 44831)	dbGAP											0													24.0	27.0	26.0					19																	5844672		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.179G>C	19.37:g.5844672C>G	ENSP00000305603:p.Arg60Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R60P	ENST00000303225.6	37	c.179	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	C	9.278	1.047345	0.19827	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.23348	1.91;1.91	2.33	-2.22	0.06952	.	29.287000	0.00496	N	0.000142	T	0.13798	0.0334	N	0.16016	0.355	0.09310	N	1	B;B;B;B	0.09022	0.002;0.002;0.001;0.002	B;B;B;B	0.09377	0.003;0.003;0.004;0.003	T	0.17930	-1.0353	10	0.39692	T	0.17	.	2.0701	0.03611	0.2532:0.3958:0.0:0.3511	.	60;60;60;60	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	P	60	ENSP00000305603:R60P;ENSP00000416443:R60P	ENSP00000305603:R60P	R	-	2	0	FUT3	5795672	0.000000	0.05858	0.003000	0.11579	0.363000	0.29612	-3.737000	0.00379	-0.116000	0.11893	0.205000	0.17691	CGC	FUT3	-	pfam_Glyco_trans_10	ENSG00000171124		0.632	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1	30	0.00	0	C	NM_000149		5844672	5844672	-1	no_errors	ENST00000303225	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.005	G
INTS4	92105	genome.wustl.edu	37	11	77639511	77639511	+	Silent	SNP	T	T	A	rs11607479	byFrequency	TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr11:77639511T>A	ENST00000534064.1	-	11	1282	c.1248A>T	c.(1246-1248)ctA>ctT	p.L416L	INTS4_ENST00000525931.1_5'UTR|INTS4_ENST00000529807.1_Silent_p.L416L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	416					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACATGTCAACTAGGAAATCAA	0.438													T|||	865	0.172724	0.1641	0.1427	5008	,	,		22017	0.1478		0.2068	False		,,,				2504	0.1963					dbGAP											0													32.0	29.0	30.0					11																	77639511		2199	4289	6488	-	-	-	SO:0001819	synonymous_variant	0			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.1248A>T	11.37:g.77639511T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L416	ENST00000534064.1	37	c.1248	CCDS31644.1	11																																																																																			INTS4	-	superfamily_ARM-type_fold	ENSG00000149262		0.438	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	117	0.00	0	T	NM_033547		77639511	77639511	-1	no_errors	ENST00000534064	ensembl	human	known	69_37n	silent	80	12.09	11	SNP	1.000	A
KAT6A	7994	genome.wustl.edu	37	8	41790653	41790653	+	Silent	SNP	A	A	G			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr8:41790653A>G	ENST00000396930.3	-	18	5628	c.5085T>C	c.(5083-5085)ccT>ccC	p.P1695P	KAT6A_ENST00000265713.2_Silent_p.P1695P|KAT6A_ENST00000406337.1_Silent_p.P1695P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1695	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										gctgctggggagggggtgggg	0.617																																						dbGAP											0													18.0	21.0	20.0					8																	41790653		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5085T>C	8.37:g.41790653A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76L81	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P1695	ENST00000396930.3	37	c.5085	CCDS6124.1	8																																																																																			KAT6A	-	NULL	ENSG00000083168		0.617	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	25	0.00	0	A	NM_006766		41790653	41790653	-1	no_errors	ENST00000265713	ensembl	human	known	69_37n	silent	14	46.15	12	SNP	0.257	G
KAT6A	7994	genome.wustl.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						dbGAP											0													16.0	18.0	18.0					8																	41790659		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76L81	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P1693	ENST00000396930.3	37	c.5079	CCDS6124.1	8																																																																																			KAT6A	-	NULL	ENSG00000083168		0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	19	0.00	0	T	NM_006766		41790659	41790659	-1	no_errors	ENST00000265713	ensembl	human	known	69_37n	silent	9	60.87	14	SNP	0.229	G
KLK13	26085	genome.wustl.edu	37	19	51568308	51568308	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr19:51568308delA	ENST00000595793.1	-	1	59	c.17delT	c.(16-18)ctafs	p.L6fs	KLK13_ENST00000335422.3_Frame_Shift_Del_p.L6fs|KLK13_ENST00000595547.1_Frame_Shift_Del_p.L6fs|KLK13_ENST00000596955.1_Frame_Shift_Del_p.L6fs	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	6					protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGCGATCACTAGGGCCAGGGG	0.697																																						dbGAP											0													9.0	8.0	8.0					19																	51568308		2136	4214	6350	-	-	-	SO:0001589	frameshift_variant	0				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.17delT	19.37:g.51568308delA	ENSP00000470555:p.Leu6fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A7UNK6|Q86VI8|Q9Y433	Frame_Shift_Del	DEL	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L6fs	ENST00000595793.1	37	c.17	CCDS12822.1	19																																																																																			KLK13	-	NULL	ENSG00000167759		0.697	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	HGNC	protein_coding	OTTHUMT00000464298.2	13	0.00	0	A	NM_015596		51568308	51568308	-1	no_errors	ENST00000156476	ensembl	human	known	69_37n	frame_shift_del	2	50.00	2	DEL	0.000	-
KIR2DL3	3804	genome.wustl.edu	37	19	55263947	55263947	+	Silent	SNP	G	G	T			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr19:55263947G>T	ENST00000342376.3	+	8	1033	c.1002G>T	c.(1000-1002)acG>acT	p.T334T	KIR3DL1_ENST00000538269.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	334					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCGTGTACACGGAACTTCCAA	0.507																																						dbGAP											0													219.0	228.0	225.0					19																	55263947		2006	4007	6013	-	-	-	SO:0001819	synonymous_variant	0			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.1002G>T	19.37:g.55263947G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.T334	ENST00000342376.3	37	c.1002	CCDS33107.1	19																																																																																			KIR2DL3	-	NULL	ENSG00000243772		0.507	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	KIR2DL3	HGNC	protein_coding	OTTHUMT00000141150.1	26	0.00	0	G			55263947	55263947	+1	no_errors	ENST00000342376	ensembl	human	known	69_37n	silent	24	42.86	18	SNP	0.001	T
MAP4K5	11183	genome.wustl.edu	37	14	50952848	50952848	+	Silent	SNP	G	G	A			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr14:50952848G>A	ENST00000013125.4	-	4	549	c.231C>T	c.(229-231)atC>atT	p.I77I	MAP4K5_ENST00000557578.1_5'UTR	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					AGTAGGCAACGATGTTACAAT	0.303																																						dbGAP											0													85.0	78.0	80.0					14																	50952848		1805	4036	5841	-	-	-	SO:0001819	synonymous_variant	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.231C>T	14.37:g.50952848G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYF6	Silent	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.I77	ENST00000013125.4	37	c.231		14																																																																																			MAP4K5	-	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	ENSG00000012983		0.303	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	44	0.00	0	G	NM_006575		50952848	50952848	-1	no_errors	ENST00000013125	ensembl	human	known	69_37n	silent	33	19.05	8	SNP	0.989	A
MTPAP	55149	genome.wustl.edu	37	10	30653858	30653858	+	Silent	SNP	A	A	C			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr10:30653858A>C	ENST00000358107.4	-	2	323	c.324T>G	c.(322-324)ggT>ggG	p.G108G	AL161651.1_ENST00000408070.1_RNA|RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.324T>G	10.37:g.30653858A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	pfam_PAP_assoc	p.G108	ENST00000358107.4	37	c.324		10																																																																																			MTPAP	-	NULL	ENSG00000107951		0.642	MTPAP-201	KNOWN	basic	protein_coding	MTPAP	HGNC	protein_coding		65	0.00	0	A	NM_018109		30653858	30653858	-1	no_errors	ENST00000358107	ensembl	human	known	69_37n	silent	30	34.78	16	SNP	0.008	C
MTPAP	55149	genome.wustl.edu	37	10	30653864	30653864	+	Silent	SNP	A	A	C			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr10:30653864A>C	ENST00000358107.4	-	2	317	c.318T>G	c.(316-318)ggT>ggG	p.G106G	AL161651.1_ENST00000408070.1_RNA|RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ccccacccccacccccacAGA	0.652																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.318T>G	10.37:g.30653864A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	pfam_PAP_assoc	p.G106	ENST00000358107.4	37	c.318		10																																																																																			MTPAP	-	NULL	ENSG00000107951		0.652	MTPAP-201	KNOWN	basic	protein_coding	MTPAP	HGNC	protein_coding		71	0.00	0	A	NM_018109		30653864	30653864	-1	no_errors	ENST00000358107	ensembl	human	known	69_37n	silent	34	39.29	22	SNP	0.011	C
NAV3	89795	genome.wustl.edu	37	12	78582467	78582467	+	Silent	SNP	T	T	C	rs370900282		TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr12:78582467T>C	ENST00000397909.2	+	33	6138	c.5965T>C	c.(5965-5967)Tta>Cta	p.L1989L	NAV3_ENST00000228327.6_Silent_p.L1967L|NAV3_ENST00000536525.2_Silent_p.L1967L|NAV3_ENST00000552300.1_Intron|NAV3_ENST00000266692.7_Silent_p.L1790L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1989						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TATAGGAGACTTAATTAGATC	0.398										HNSCC(70;0.22)																												dbGAP											0													120.0	116.0	117.0					12																	78582467		1917	4133	6050	-	-	-	SO:0001819	synonymous_variant	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5965T>C	12.37:g.78582467T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L861P	ENST00000397909.2	37	c.2582		12	.	.	.	.	.	.	.	.	.	.	T	9.043	0.990142	0.18966	.	.	ENSG00000067798	ENST00000552895	.	.	.	5.95	3.54	0.40534	.	0.565115	0.13223	U	0.404250	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47355	-0.9124	5	.	.	.	-1.384	9.093	0.36623	0.1118:0.0:0.4527:0.4355	.	.	.	.	P	861	.	.	L	+	2	0	NAV3	77106598	0.989000	0.36119	0.980000	0.43619	0.955000	0.61496	0.922000	0.28734	0.477000	0.27464	-0.316000	0.08728	CTT	NAV3	-	NULL	ENSG00000067798		0.398	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	49	0.00	0	T	NM_001024383		78582467	78582467	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000552895	ensembl	human	novel	69_37n	missense	38	25.49	13	SNP	0.994	C
NEDD9	4739	genome.wustl.edu	37	6	11185522	11185522	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr6:11185522G>T	ENST00000379446.5	-	7	2544	c.2378C>A	c.(2377-2379)gCa>gAa	p.A793E	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.A793E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	793					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CATCTTGGTTGCCATGACTAT	0.567																																						dbGAP											0													182.0	161.0	168.0					6																	11185522		2203	4300	6503	-	-	-	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2378C>A	6.37:g.11185522G>T	ENSP00000368759:p.Ala793Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.A793E	ENST00000379446.5	37	c.2378	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	32	5.140403	0.94560	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.27890	1.64;1.64	6.17	6.17	0.99709	CAS family, DUF3513 (1);	0.137912	0.64402	D	0.000003	T	0.54598	0.1868	M	0.77616	2.38	0.80722	D	1	D;D;D	0.71674	0.998;0.975;0.998	D;P;D	0.74348	0.949;0.811;0.983	T	0.55062	-0.8199	10	0.87932	D	0	-27.9835	20.8794	0.99867	0.0:0.0:1.0:0.0	.	793;793;793	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	E	793	ENSP00000368759:A793E;ENSP00000422871:A793E	ENSP00000368759:A793E	A	-	2	0	NEDD9	11293508	1.000000	0.71417	0.896000	0.35187	0.883000	0.51084	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GCA	NEDD9	-	pfam_CAS_DUF3513	ENSG00000111859		0.567	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	76	0.00	0	G	NM_006403		11185522	11185522	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	1.000	T
SPOCK3	50859	genome.wustl.edu	37	4	168155291	168155292	+	Frame_Shift_Del	DEL	CA	CA	-	rs557659762		TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr4:168155291_168155292delCA	ENST00000357154.3	-	2	170_171	c.33_34delTG	c.(31-36)tgtgcafs	p.A14fs	SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000534949.1_5'Flank|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.A14fs|SPOCK3_ENST00000535728.1_5'Flank	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	14					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CAAGCGGCTGCACACACACACA	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.33_34delTG	4.37:g.168155301_168155302delCA	ENSP00000349677:p.Ala14fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Frame_Shift_Del	DEL	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.A12fs	ENST00000357154.3	37	c.34_33	CCDS54817.1	4																																																																																			SPOCK3	-	NULL	ENSG00000196104		0.609	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK3	HGNC	protein_coding	OTTHUMT00000364091.1	37	0.00	0	CA			168155291	168155292	-1	no_errors	ENST00000357154	ensembl	human	known	69_37n	frame_shift_del	30	11.76	4	DEL	1.000:1.000	-
ST7L	54879	genome.wustl.edu	37	1	113083439	113083439	+	Intron	SNP	C	C	T	rs10745330	byFrequency	TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr1:113083439C>T	ENST00000358039.4	-	14	1934				ST7L_ENST00000490067.1_Intron|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000360743.4_Intron|ST7L_ENST00000463235.1_5'Flank|ST7L_ENST00000544629.1_Intron	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like						negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTGTTTTCATTTTTGGGA	0.313													T|||	2453	0.489816	0.5333	0.4438	5008	,	,		19043	0.6151		0.4811	False		,,,				2504	0.3436					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.1629+1133G>A	1.37:g.113083439C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	RNA	SNP	-	NULL	ENST00000358039.4	37	NULL	CCDS848.1	1																																																																																			ST7L	-	-	ENSG00000007341		0.313	ST7L-001	KNOWN	basic|CCDS	protein_coding	ST7L	HGNC	protein_coding	OTTHUMT00000032504.3	31	0.00	0	C			113083439	113083439	-1	no_errors	ENST00000498197	ensembl	human	known	69_37n	rna	38	15.56	7	SNP	0.019	T
TBX3	6926	genome.wustl.edu	37	12	115120619	115120620	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr12:115120619_115120620insC	ENST00000257566.3	-	1	775_776	c.386_387insG	c.(385-387)ggafs	p.G129fs	TBX3_ENST00000349155.2_Frame_Shift_Ins_p.G129fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	129					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTGCTTACCTTCCCGACTTGGT	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.387dupG	12.37:g.115120622_115120622dupC	ENSP00000257566:p.Gly129fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TB20|Q9UKF8	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R130fs	ENST00000257566.3	37	c.387_386	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	ENSG00000135111		0.535	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	48	0.00	0	-	NM_016569, NM_005996		115120619	115120620	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_ins	36	26.53	13	INS	1.000:1.000	C
TLK1	9874	genome.wustl.edu	37	2	171871410	171871410	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr2:171871410T>G	ENST00000431350.2	-	13	1689	c.1285A>C	c.(1285-1287)Aat>Cat	p.N429H	TLK1_ENST00000360843.3_Missense_Mutation_p.N450H|TLK1_ENST00000442919.2_Missense_Mutation_p.N381H|TLK1_ENST00000521943.1_Missense_Mutation_p.N381H|TLK1_ENST00000434911.2_Missense_Mutation_p.N333H			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	429					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATGTGAAGATTTCTGACTCTT	0.353																																						dbGAP											0													120.0	120.0	120.0					2																	171871410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1285A>C	2.37:g.171871410T>G	ENSP00000411099:p.Asn429His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.N429H	ENST00000431350.2	37	c.1285	CCDS2241.1	2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603662	0.87157	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.65549	-0.14;-0.16;-0.15;-0.14;-0.14	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.80597	0.4653	M	0.83953	2.67	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.993	D;D;P	0.72625	0.95;0.978;0.883	D	0.83844	0.0259	10	0.87932	D	0	.	15.7854	0.78297	0.0:0.0:0.0:1.0	.	333;450;429	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	H	381;429;450;381;333	ENSP00000402165:N381H;ENSP00000411099:N429H;ENSP00000354089:N450H;ENSP00000428113:N381H;ENSP00000409222:N333H	ENSP00000354089:N450H	N	-	1	0	TLK1	171579656	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.129000	0.65627	0.533000	0.62120	AAT	TLK1	-	NULL	ENSG00000198586		0.353	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLK1	HGNC	protein_coding	OTTHUMT00000255314.1	30	0.00	0	T	NM_012290		171871410	171871410	-1	no_errors	ENST00000431350	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	G
TMEM63C	57156	genome.wustl.edu	37	14	77706020	77706020	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr14:77706020A>C	ENST00000298351.4	+	12	1025	c.881A>C	c.(880-882)cAc>cCc	p.H294P		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	294					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ATCAGGATCCACCCCTGTGCC	0.617																																						dbGAP											0													37.0	42.0	41.0					14																	77706020		1996	4158	6154	-	-	-	SO:0001583	missense	0				CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.881A>C	14.37:g.77706020A>C	ENSP00000298351:p.His294Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Missense_Mutation	SNP	pfam_DUF221	p.H294P	ENST00000298351.4	37	c.881	CCDS45141.1	14	.	.	.	.	.	.	.	.	.	.	A	15.79	2.938470	0.52972	.	.	ENSG00000165548	ENST00000298351	T	0.39997	1.05	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.48466	0.1501	L	0.58101	1.795	0.80722	D	1	P	0.49961	0.93	P	0.48488	0.579	T	0.53844	-0.8381	10	0.87932	D	0	-32.3974	13.5755	0.61873	1.0:0.0:0.0:0.0	.	294	Q9P1W3	TM63C_HUMAN	P	294	ENSP00000298351:H294P	ENSP00000298351:H294P	H	+	2	0	TMEM63C	76775773	1.000000	0.71417	0.990000	0.47175	0.976000	0.68499	6.961000	0.76042	1.949000	0.56562	0.379000	0.24179	CAC	TMEM63C	-	NULL	ENSG00000165548		0.617	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63C	HGNC	protein_coding	OTTHUMT00000414193.1	27	0.00	0	A			77706020	77706020	+1	no_errors	ENST00000298351	ensembl	human	known	69_37n	missense	11	52.17	12	SNP	1.000	C
TPRX1	284355	genome.wustl.edu	37	19	48305694	48305694	+	Missense_Mutation	SNP	A	A	G	rs200053895		TCGA-D8-A3Z5-01A-41D-A243-09	TCGA-D8-A3Z5-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96561a13-a52a-4cd1-b9a0-7a5eb56e7541	30f9b5a4-8975-4fef-a062-b6bbfca3133d	g.chr19:48305694A>G	ENST00000322175.3	-	2	729	c.574T>C	c.(574-576)Tca>Cca	p.S192P	TPRX1_ENST00000535759.1_Missense_Mutation_p.S289P|TPRX1_ENST00000543508.1_Missense_Mutation_p.S182P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	192	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		atcgggcctgagattgggcct	0.672																																					Esophageal Squamous(123;175 2281 3051 32395)	dbGAP											0													14.0	12.0	13.0					19																	48305694		1711	3169	4880	-	-	-	SO:0001583	missense	0				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.574T>C	19.37:g.48305694A>G	ENSP00000323455:p.Ser192Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D8Y3|B2RPL5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S289P	ENST00000322175.3	37	c.865	CCDS33066.1	19	.	.	.	.	.	.	.	.	.	.	a	0.005	-2.138250	0.00335	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.19250	2.16;2.16;2.16	0.401	-0.802	0.10889	.	.	.	.	.	T	0.05868	0.0153	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28522	-1.0041	8	0.08599	T	0.76	.	.	.	.	.	192	Q8N7U7	TPRX1_HUMAN	P	192;289;182	ENSP00000323455:S192P;ENSP00000438832:S289P;ENSP00000438712:S182P	ENSP00000323455:S192P	S	-	1	0	TPRX1	52997506	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.647000	0.01997	-2.695000	0.00402	-2.747000	0.00125	TCA	TPRX1	-	NULL	ENSG00000178928		0.672	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	HGNC	protein_coding	OTTHUMT00000409868.1	141	0.70	1	A	NM_198479		48305694	48305694	-1	no_errors	ENST00000535759	ensembl	human	known	69_37n	missense	92	15.60	17	SNP	0.000	G
