#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_ORegAnno_bin	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
ABCC8	6833	genome.wustl.edu	37	11	17418752	17418752	+	Missense_Mutation	SNP	C	C	T	rs200563930	byFrequency	TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr11:17418752C>T	ENST00000389817.3	-	32	4044	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	ABCC8_ENST00000302539.4_Missense_Mutation_p.E1327K			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1326					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	AGGAGCCCCTCGTAGCTCTCT	0.632													C|||	7	0.00139776	0.0	0.0	5008	,	,		17498	0.0069		0.0	False		,,,				2504	0.0					dbGAP											0			GRCh37	CM072820	ABCC8	M							84.0	86.0	85.0					11																	17418752		2200	4293	6493	-	-	-	SO:0001583	missense	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3976G>A	11.37:g.17418752C>T	ENSP00000374467:p.Glu1326Lys		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.E1327K	ENST00000389817.3	37	c.3979	CCDS31437.1	11	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	15.96|15.96	2.986696|2.986696	0.53934|0.53934	.|.	.|.	ENSG00000006071|ENSG00000006071	ENST00000389817;ENST00000302539|ENST00000528374	D;D|.	0.92495|.	-3.05;-3.05|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.062471|.	0.64402|.	D|.	0.000005|.	T|T	0.39253|0.39253	0.1071|0.1071	N|N	0.12422|0.12422	0.21|0.21	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.25809|.	0.135|.	B|.	0.17722|.	0.019|.	T|T	0.25293|0.25293	-1.0136|-1.0136	10|5	0.41790|.	T|.	0.15|.	.|.	11.8828|11.8828	0.52586|0.52586	0.0:0.9195:0.0:0.0805|0.0:0.9195:0.0:0.0805	.|.	1326|.	Q09428|.	ABCC8_HUMAN|.	K|Q	1326;1327|149	ENSP00000374467:E1326K;ENSP00000303960:E1327K|.	ENSP00000303960:E1327K|.	E|R	-|-	1|2	0|0	ABCC8|ABCC8	17375328|17375328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.703000|0.703000	0.40648|0.40648	6.088000|6.088000	0.71371|0.71371	2.350000|2.350000	0.79820|0.79820	0.555000|0.555000	0.69702|0.69702	GAG|CGA	ABCC8	-	NULL	ENSG00000006071		0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	128	0.00	0	C	NM_000352		17418752	17418752	-1	no_errors	ENST00000302539	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	T
ALDH1L1	10840	genome.wustl.edu	37	3	125828868	125828868	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr3:125828868C>A	ENST00000393434.2	-	20	2615	c.2266G>T	c.(2266-2268)Gtg>Ttg	p.V756L	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V756L|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V655L|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V766L|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	756	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATCAGCTTCACAAGGTGGGCA	0.612																																						dbGAP											0													148.0	111.0	124.0					3																	125828868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2266G>T	3.37:g.125828868C>A	ENSP00000377083:p.Val756Leu		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.V756L	ENST00000393434.2	37	c.2266	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	C	6.903	0.536238	0.13188	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	3.74	-6.65	0.01795	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	3.445760	0.01639	N	0.023943	T	0.49949	0.1587	N	0.05306	-0.075	0.09310	N	1	B;B;B	0.22211	0.066;0.024;0.0	B;B;B	0.26614	0.071;0.055;0.001	T	0.43589	-0.9382	10	0.56958	D	0.05	.	3.3608	0.07186	0.1071:0.2911:0.4246:0.1773	.	655;291;756	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	L	766;756;655;756	ENSP00000273450:V766L;ENSP00000420293:V756L;ENSP00000395881:V655L;ENSP00000377083:V756L	ENSP00000273450:V766L	V	-	1	0	ALDH1L1	127311558	0.001000	0.12720	0.000000	0.03702	0.053000	0.15095	1.016000	0.29976	-0.962000	0.03604	-0.959000	0.02639	GTG	ALDH1L1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH	ENSG00000144908		0.612	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	316	0.00	0	C	NM_012190		125828868	125828868	-1	no_errors	ENST00000393434	ensembl	human	known	69_37n	missense	62	31.87	29	SNP	0.000	A
ATP2A2	488	genome.wustl.edu	37	12	110781179	110781179	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr12:110781179C>T	ENST00000539276.2	+	16	2570	c.2461C>T	c.(2461-2463)Cgg>Tgg	p.R821W	ATP2A2_ENST00000308664.6_Missense_Mutation_p.R821W|ATP2A2_ENST00000395494.2_Missense_Mutation_p.R794W			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	821					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAAACCTCCCCGGAACCCAAA	0.463																																						dbGAP											0													95.0	101.0	99.0					12																	110781179		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2461C>T	12.37:g.110781179C>T	ENSP00000440045:p.Arg821Trp		A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R821W	ENST00000539276.2	37	c.2461	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.368976|5.368976	0.95900|0.95900	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	D|D;D;D	0.99070|0.97209	-5.39|-4.29;-4.29;-4.29	5.3|5.3	5.3|5.3	0.74995|0.74995	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99302|0.99302	0.9756|0.9756	H|H	0.99582|0.99582	4.64|4.64	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;1.0	D|D	0.98383|0.98383	1.0559|1.0559	6|10	.|0.87932	.|D	.|0	.|.	19.321|19.321	0.94240|0.94240	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|794;821;821	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	L|W	711|821;794;821	ENSP00000449454:P711L|ENSP00000311186:R821W;ENSP00000378872:R794W;ENSP00000440045:R821W	.|ENSP00000311186:R821W	P|R	+|+	2|1	0|2	ATP2A2|ATP2A2	109265562|109265562	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.939000|0.939000	0.58152|0.58152	7.773000|7.773000	0.85462|0.85462	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	CCG|CGG	ATP2A2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000174437		0.463	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	130	0.00	0	C	NM_001681		110781179	110781179	+1	no_errors	ENST00000539276	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	1.000	T
ATXN7L1	222255	genome.wustl.edu	37	7	105255024	105255024	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr7:105255024T>A	ENST00000419735.3	-	10	1802	c.1757A>T	c.(1756-1758)cAt>cTt	p.H586L	ATXN7L1_ENST00000477775.1_Missense_Mutation_p.H462L|ATXN7L1_ENST00000388807.4_Missense_Mutation_p.H246L	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	586	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						TGCGGCCACATGAGGGAAAGC	0.582																																						dbGAP											0													169.0	132.0	143.0					7																	105255024		692	1591	2283	-	-	-	SO:0001583	missense	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"""ataxin 7-like 4"""	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1757A>T	7.37:g.105255024T>A	ENSP00000410759:p.His586Leu		A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	pfam_SCA7_dom	p.H586L	ENST00000419735.3	37	c.1757	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	T	13.21	2.169098	0.38315	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000484475;ENST00000388807;ENST00000472195	T;T;T;T;T	0.19105	2.46;2.45;2.17;2.17;2.45	5.7	5.7	0.88788	.	0.068995	0.64402	D	0.000012	T	0.18002	0.0432	N	0.22421	0.69	0.42351	D	0.992378	B;B;B	0.22683	0.073;0.063;0.037	B;B;B	0.24701	0.046;0.055;0.025	T	0.03483	-1.1032	10	0.51188	T	0.08	.	15.9745	0.80049	0.0:0.0:0.0:1.0	.	472;462;586	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	L	586;462;287;246;462	ENSP00000410759:H586L;ENSP00000418476:H462L;ENSP00000418900:H287L;ENSP00000373459:H246L;ENSP00000419566:H462L	ENSP00000373459:H246L	H	-	2	0	ATXN7L1	105042260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.833000	0.69349	2.168000	0.68352	0.533000	0.62120	CAT	ATXN7L1	-	NULL	ENSG00000146776		0.582	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	HGNC	protein_coding	OTTHUMT00000349037.2	608	0.00	0	T			105255024	105255024	-1	no_errors	ENST00000419735	ensembl	human	known	69_37n	missense	233	19.31	56	SNP	1.000	A
B4GALT1	2683	genome.wustl.edu	37	9	33135287	33135287	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr9:33135287G>A	ENST00000379731.4	-	2	734	c.548C>T	c.(547-549)cCa>cTa	p.P183L	B4GALT1_ENST00000535206.1_Missense_Mutation_p.P183L	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	183	UDP-alpha-D-galactose binding.				acute inflammatory response (GO:0002526)|angiogenesis involved in wound healing (GO:0060055)|binding of sperm to zona pellucida (GO:0007339)|branching morphogenesis of an epithelial tube (GO:0048754)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|development of secondary sexual characteristics (GO:0045136)|epithelial cell development (GO:0002064)|extracellular matrix organization (GO:0030198)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|lactose biosynthetic process (GO:0005989)|leukocyte migration (GO:0050900)|mammary gland development (GO:0030879)|multicellular organism reproduction (GO:0032504)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|oligosaccharide biosynthetic process (GO:0009312)|penetration of zona pellucida (GO:0007341)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of acrosome reaction (GO:0060046)|regulation of cellular component movement (GO:0051270)|single fertilization (GO:0007338)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|desmosome (GO:0030057)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|glycocalyx (GO:0030112)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-tubulin binding (GO:0043014)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|beta-tubulin binding (GO:0048487)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|manganese ion binding (GO:0030145)|N-acetyllactosamine synthase activity (GO:0003945)|protein homodimerization activity (GO:0042803)|UDP-galactosyltransferase activity (GO:0035250)			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GTTGCGGAATGGAATGATGAT	0.557																																						dbGAP											0													110.0	97.0	102.0					9																	33135287		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14085	CCDS6535.1	9p13	2013-02-19			ENSG00000086062	ENSG00000086062	2.4.1.22	"""Beta 4-glycosyltransferases"""	924	protein-coding gene	gene with protein product		137060		GGTB2		9597550	Standard	NM_001497		Approved	beta4Gal-T1	uc003zsg.2	P15291	OTTHUMG00000019764	ENST00000379731.4:c.548C>T	9.37:g.33135287G>A	ENSP00000369055:p.Pro183Leu		B2R710|D3DRL2|Q12909|Q12910|Q12911|Q14456|Q14509|Q14523	Missense_Mutation	SNP	pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met	p.P183L	ENST00000379731.4	37	c.548	CCDS6535.1	9	.	.	.	.	.	.	.	.	.	.	G	33	5.193943	0.94960	.	.	ENSG00000086062	ENST00000535206;ENST00000379731;ENST00000541701	T;T	0.59906	0.23;0.23	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88093	0.2814	10	0.72032	D	0.01	-28.2543	16.5567	0.84487	0.0:0.0:1.0:0.0	.	183	P15291	B4GT1_HUMAN	L	183;183;140	ENSP00000440341:P183L;ENSP00000369055:P183L	ENSP00000369055:P183L	P	-	2	0	B4GALT1	33125287	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.848000	0.98002	0.655000	0.94253	CCA	B4GALT1	-	pfam_Galactosyl_T_2_met	ENSG00000086062		0.557	B4GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT1	HGNC	protein_coding	OTTHUMT00000052039.1	220	0.00	0	G	NM_001497		33135287	33135287	-1	no_errors	ENST00000379731	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	1.000	A
CELSR3	1951	genome.wustl.edu	37	3	48699138	48699138	+	Silent	SNP	C	C	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr3:48699138C>T	ENST00000164024.4	-	1	1210	c.930G>A	c.(928-930)gcG>gcA	p.A310A	RP11-148G20.1_ENST00000421275.1_RNA|CELSR3_ENST00000544264.1_Silent_p.A310A	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	310					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.A310A(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCCCGGTTCGCCGAGGTTA	0.706																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											37.0	42.0	40.0					3																	48699138		2184	4249	6433	-	-	-	SO:0001819	synonymous_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.930G>A	3.37:g.48699138C>T			O75092	Silent	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.A310	ENST00000164024.4	37	c.930	CCDS2775.1	3																																																																																			CELSR3	-	NULL	ENSG00000008300		0.706	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	24	0.00	0	C	NM_001407		48699138	48699138	-1	no_errors	ENST00000544264	ensembl	human	known	69_37n	silent	13	27.78	5	SNP	0.000	T
EIF4G3	8672	genome.wustl.edu	37	1	21167444	21167444	+	Silent	SNP	G	G	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr1:21167444G>A	ENST00000264211.8	-	24	3992	c.3798C>T	c.(3796-3798)acC>acT	p.T1266T	EIF4G3_ENST00000536266.1_Silent_p.T870T|EIF4G3_ENST00000400422.1_Silent_p.T1266T|EIF4G3_ENST00000602326.1_Silent_p.T1272T|EIF4G3_ENST00000374937.3_Silent_p.T1272T|EIF4G3_ENST00000374935.3_Silent_p.T986T|RNU7-200P_ENST00000516105.1_RNA|EIF4G3_ENST00000537738.1_Silent_p.T756T	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1266	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCCTTTCCAGGGTGGACTCCA	0.493																																						dbGAP											0													116.0	107.0	110.0					1																	21167444		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3798C>T	1.37:g.21167444G>A			B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.T1272	ENST00000264211.8	37	c.3816	CCDS214.1	1																																																																																			EIF4G3	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	ENSG00000075151		0.493	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	223	0.00	0	G	NM_003760		21167444	21167444	-1	no_errors	ENST00000374937	ensembl	human	known	69_37n	silent	137	13.29	21	SNP	1.000	A
CYP4A22	284541	genome.wustl.edu	37	1	47610236	47610236	+	Silent	SNP	C	C	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr1:47610236C>T	ENST00000371891.3	+	8	943	c.912C>T	c.(910-912)agC>agT	p.S304S	CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.S304S|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	304						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAATGGGAGCATCTTGTCAG	0.542																																					Pancreas(88;1240 1470 2099 14214 37557)	dbGAP											0													165.0	156.0	159.0					1																	47610236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.912C>T	1.37:g.47610236C>T			Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.S304	ENST00000371891.3	37	c.912	CCDS30707.1	1																																																																																			CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000162365		0.542	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	549	0.00	0	C	XM_208213		47610236	47610236	+1	no_errors	ENST00000371891	ensembl	human	known	69_37n	silent	239	10.49	28	SNP	0.996	T
EXOC6	54536	genome.wustl.edu	37	10	94653133	94653133	+	Silent	SNP	G	G	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr10:94653133G>A	ENST00000260762.6	+	2	143	c.129G>A	c.(127-129)gcG>gcA	p.A43A	EXOC6_ENST00000371547.4_Silent_p.A59A|EXOC6_ENST00000371543.1_Silent_p.A43A|EXOC6_ENST00000443748.2_Silent_p.A43A|EXOC6_ENST00000371552.4_Silent_p.A38A	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	43					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AACCAAATGCGCACAAGAAGT	0.333																																						dbGAP											0													92.0	92.0	92.0					10																	94653133		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.129G>A	10.37:g.94653133G>A			E9PHI3|Q5VXH8|Q9NZ24	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.A59	ENST00000260762.6	37	c.177	CCDS7424.2	10																																																																																			EXOC6	-	pirsf_Sec15	ENSG00000138190		0.333	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6	HGNC	protein_coding	OTTHUMT00000049410.2	206	0.48	1	G	NM_019053		94653133	94653133	+1	no_errors	ENST00000371547	ensembl	human	known	69_37n	silent	76	24.75	25	SNP	0.994	A
EXOC6B	23233	genome.wustl.edu	37	2	72406489	72406489	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr2:72406489C>G	ENST00000272427.6	-	22	2541	c.2411G>C	c.(2410-2412)gGa>gCa	p.G804A	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	804					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GCTGATGAGTCCTCGGAGCTG	0.562																																						dbGAP											0													97.0	102.0	100.0					2																	72406489		2107	4239	6346	-	-	-	SO:0001583	missense	0			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2411G>C	2.37:g.72406489C>G	ENSP00000272427:p.Gly804Ala		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.G804A	ENST00000272427.6	37	c.2411	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	C	7.582	0.668853	0.14776	.	.	ENSG00000144036	ENST00000272427	T	0.21031	2.03	5.43	5.43	0.79202	.	.	.	.	.	T	0.12902	0.0313	N	0.11927	0.2	0.80722	D	1	B	0.21905	0.062	B	0.17098	0.017	T	0.12041	-1.0563	9	0.10377	T	0.69	.	17.8156	0.88632	0.0:1.0:0.0:0.0	.	804	Q9Y2D4	EXC6B_HUMAN	A	804	ENSP00000272427:G804A	ENSP00000272427:G804A	G	-	2	0	EXOC6B	72259997	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	1.943000	0.40253	2.550000	0.86006	0.563000	0.77884	GGA	EXOC6B	-	pirsf_Sec15	ENSG00000144036		0.562	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	425	0.00	0	C	XM_039570		72406489	72406489	-1	no_errors	ENST00000272427	ensembl	human	known	69_37n	missense	174	16.75	35	SNP	1.000	G
FAM157B	100132403	genome.wustl.edu	37	9	141107536	141107537	+	lincRNA	INS	-	-	GCA	rs367832601|rs554298933|rs370981092		TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		CGgcagcggcggcagcagcagc	0.545																																						dbGAP											0																																										-	-	-			0					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107543_141107545dupGCA				RNA	INS	-	NULL	ENST00000446912.2	37	NULL		9																																																																																			FAM157B	-	-	ENSG00000233013		0.545	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	FAM157B	HGNC	lincRNA	OTTHUMT00000055378.2	82	0.00	0	-	NM_001145249		141107536	141107537	+1	no_errors	ENST00000446912	ensembl	human	known	69_37n	rna	67	19.28	16	INS	0.033:0.036	GCA
GATA3	2625	genome.wustl.edu	37	10	8115874	8115875	+	Frame_Shift_Ins	INS	-	-	G	rs144824106		TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr10:8115874_8115875insG	ENST00000346208.3	+	6	1675_1676	c.1220_1221insG	c.(1219-1224)tcgcccfs	p.P408fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(6)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	6	Insertion - Frameshift(6)	breast(6)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1221dupG	10.37:g.8115875_8115875dupG	ENSP00000341619:p.Pro408fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409fs	ENST00000346208.3	37	c.1223_1224	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	193	0.00	0	-	NM_001002295		8115874	8115875	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	73	25.51	25	INS	0.903:0.359	G
HAPLN2	60484	genome.wustl.edu	37	1	156593871	156593872	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr1:156593871_156593872insT	ENST00000255039.1	+	4	765_766	c.358_359insT	c.(358-360)ctgfs	p.L120fs	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	120	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCGTGCGCCTGGAGGACGAG	0.708																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.359dupT	1.37:g.156593872_156593872dupT	ENSP00000255039:p.Leu120fs		Q5T3J0	Frame_Shift_Ins	INS	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.E121fs	ENST00000255039.1	37	c.358_359	CCDS1148.1	1																																																																																			HAPLN2	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000132702		0.708	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN2	HGNC	protein_coding	OTTHUMT00000081039.1	26	0.00	0	-	NM_021817		156593871	156593872	+1	no_errors	ENST00000255039	ensembl	human	known	69_37n	frame_shift_ins	5	28.57	2	INS	1.000:1.000	T
ITPKC	80271	genome.wustl.edu	37	19	41235234	41235234	+	Silent	SNP	G	G	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr19:41235234G>T	ENST00000263370.2	+	3	1416	c.1383G>T	c.(1381-1383)ctG>ctT	p.L461L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	461					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCATGGTGCTGCAGGATGGCC	0.582																																						dbGAP											0													64.0	57.0	59.0					19																	41235234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1383G>T	19.37:g.41235234G>T			Q9UE25|Q9Y475	Silent	SNP	pfam_IPK	p.L461	ENST00000263370.2	37	c.1383	CCDS12563.1	19																																																																																			ITPKC	-	NULL	ENSG00000086544		0.582	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKC	HGNC	protein_coding	OTTHUMT00000463104.1	181	0.00	0	G	NM_025194		41235234	41235234	+1	no_errors	ENST00000263370	ensembl	human	known	69_37n	silent	51	23.88	16	SNP	0.998	T
ITSN1	6453	genome.wustl.edu	37	21	35183459	35183459	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr21:35183459G>A	ENST00000381318.3	+	21	2788	c.2500G>A	c.(2500-2502)Gcc>Acc	p.A834T	ITSN1_ENST00000381291.4_Missense_Mutation_p.A834T|ITSN1_ENST00000399352.1_Missense_Mutation_p.A829T|ITSN1_ENST00000399353.1_Missense_Mutation_p.A792T|ITSN1_ENST00000399349.1_Missense_Mutation_p.A829T|ITSN1_ENST00000399338.4_Missense_Mutation_p.A829T|ITSN1_ENST00000399367.3_Missense_Mutation_p.A829T|ITSN1_ENST00000379960.5_Missense_Mutation_p.A829T|ITSN1_ENST00000399355.2_Missense_Mutation_p.A834T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.A829T|ITSN1_ENST00000381285.4_Missense_Mutation_p.A834T|ITSN1_ENST00000399326.3_Missense_Mutation_p.A829T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	834					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGAGACCCCCGCCCCTTTGGC	0.542																																						dbGAP											0													81.0	80.0	80.0					21																	35183459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2500G>A	21.37:g.35183459G>A	ENSP00000370719:p.Ala834Thr		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,prints_SH3_domain,prints_p67phox,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A834T	ENST00000381318.3	37	c.2500	CCDS33545.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.691948|1.691948	0.30052|0.30052	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960|ENST00000440794	T;T;T;T;T;T;T;T;T;T;T;T|.	0.45668|.	1.35;0.89;0.95;0.9;0.99;1.34;0.93;1.25;1.87;0.95;1.93;1.92|.	5.9|5.9	0.236|0.236	0.15471|0.15471	.|.	0.219517|.	0.47093|.	N|.	0.000254|.	T|T	0.19565|0.19565	0.0470|0.0470	N|N	0.02225|0.02225	-0.63|-0.63	0.37645|0.37645	D|D	0.922174|0.922174	P;B;B;B;P;B;B;B;P;B|.	0.36412|.	0.552;0.236;0.006;0.097;0.544;0.006;0.097;0.097;0.55;0.126|.	B;B;B;B;B;B;B;B;B;B|.	0.33392|.	0.043;0.068;0.003;0.029;0.089;0.005;0.029;0.029;0.163;0.05|.	T|T	0.11397|0.11397	-1.0589|-1.0589	10|5	0.12103|.	T|.	0.63|.	.|.	8.6869|8.6869	0.34243|0.34243	0.7066:0.0:0.2934:0.0|0.7066:0.0:0.2934:0.0	.|.	797;797;792;829;834;829;829;834;829;792|.	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0|.	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.|.	T|H	792;834;834;834;834;829;829;829;834;829;829;829;829;829|68	ENSP00000382290:A792T;ENSP00000370719:A834T;ENSP00000370691:A834T;ENSP00000370685:A834T;ENSP00000382301:A829T;ENSP00000382289:A829T;ENSP00000382292:A834T;ENSP00000382286:A829T;ENSP00000382275:A829T;ENSP00000387377:A829T;ENSP00000382265:A829T;ENSP00000369294:A829T|.	ENSP00000369294:A829T|.	A|R	+|+	1|2	0|0	ITSN1|ITSN1	34105329|34105329	0.083000|0.083000	0.21467|0.21467	0.221000|0.221000	0.23827|0.23827	0.728000|0.728000	0.41692|0.41692	0.673000|0.673000	0.25203|0.25203	0.095000|0.095000	0.17434|0.17434	-0.222000|-0.222000	0.12452|0.12452	GCC|CGC	ITSN1	-	NULL	ENSG00000205726		0.542	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	137	0.00	0	G	NM_003024		35183459	35183459	+1	no_errors	ENST00000381285	ensembl	human	known	69_37n	missense	75	14.44	13	SNP	0.599	A
KIAA1614	57710	genome.wustl.edu	37	1	180904418	180904418	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr1:180904418G>A	ENST00000367588.4	+	5	1428	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	KIAA1614_ENST00000367587.1_Missense_Mutation_p.R79H	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	458										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GAGTCCGCCCGCGAAGCCGAG	0.721																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.1373G>A	1.37:g.180904418G>A	ENSP00000356560:p.Arg458His		Q5VZ45|Q9HCF8	Missense_Mutation	SNP	NULL	p.R458H	ENST00000367588.4	37	c.1373	CCDS41442.1	1	.	.	.	.	.	.	.	.	.	.	G	5.898	0.349837	0.11182	.	.	ENSG00000135835	ENST00000367588;ENST00000367587	T;T	0.24723	2.38;1.84	4.83	1.8	0.24995	.	1.159300	0.06129	N	0.670287	T	0.22513	0.0543	L	0.42245	1.32	0.21256	N	0.99974	B	0.20887	0.049	B	0.17098	0.017	T	0.33599	-0.9862	9	0.19147	T	0.46	-0.0525	9.3726	0.38264	0.25:0.0:0.75:0.0	.	458	Q5VZ46	K1614_HUMAN	H	458;79	ENSP00000356560:R458H;ENSP00000356559:R79H	ENSP00000356559:R79H	R	+	2	0	KIAA1614	179171041	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.041000	0.13927	0.536000	0.28733	0.457000	0.33378	CGC	KIAA1614	-	NULL	ENSG00000135835		0.721	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	10	0.00	0	G	XM_046531		180904418	180904418	+1	no_errors	ENST00000367588	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	0.000	A
KIF1A	547	genome.wustl.edu	37	2	241662889	241662889	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr2:241662889T>A	ENST00000320389.7	-	40	4260	c.4102A>T	c.(4102-4104)Agt>Tgt	p.S1368C	KIF1A_ENST00000498729.2_Missense_Mutation_p.S1469C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1368					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGACTGTCACTCCGGGGCCTC	0.667																																						dbGAP											0													21.0	25.0	24.0					2																	241662889		2014	4124	6138	-	-	-	SO:0001583	missense	0			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4102A>T	2.37:g.241662889T>A	ENSP00000322791:p.Ser1368Cys		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,prints_Kinesin_motor_dom,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom	p.S1469C	ENST00000320389.7	37	c.4405	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073310	0.76415	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.73258	-0.66;-0.73	3.33	3.33	0.38152	.	0.000000	0.85682	U	0.000000	T	0.77638	0.4160	L	0.47716	1.5	0.50813	D	0.999893	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.80764	0.917;0.994;0.923	T	0.78894	-0.2024	10	0.72032	D	0.01	.	11.7248	0.51704	0.0:0.0:0.0:1.0	.	1469;1477;1368	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	1368;1469;1477	ENSP00000322791:S1368C;ENSP00000438388:S1469C	ENSP00000322791:S1368C	S	-	1	0	KIF1A	241311562	1.000000	0.71417	0.461000	0.27105	0.843000	0.47879	6.053000	0.71089	1.152000	0.42452	0.402000	0.26972	AGT	KIF1A	-	NULL	ENSG00000130294		0.667	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	64	0.00	0	T	NM_138483		241662889	241662889	-1	no_errors	ENST00000498729	ensembl	human	known	69_37n	missense	21	16.00	4	SNP	0.998	A
KLK7	5650	genome.wustl.edu	37	19	51483714	51483714	+	Missense_Mutation	SNP	G	G	A	rs200158151	byFrequency	TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr19:51483714G>A	ENST00000391807.1	-	4	352	c.251C>T	c.(250-252)aCg>aTg	p.T84M	KLK7_ENST00000597707.1_Missense_Mutation_p.T12M|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_De_novo_Start_InFrame|KLK7_ENST00000595820.1_Missense_Mutation_p.T84M|KLK7_ENST00000595638.1_5'Flank	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	84	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		GTCGCCCAGCGTATCACTGCC	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		14865	0.001		0.001	False		,,,				2504	0.0					dbGAP											0													108.0	90.0	96.0					19																	51483714		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6368	protein-coding gene	gene with protein product		604438	"""kallikrein 7 (chymotryptic, stratum corneum)"""	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.251C>T	19.37:g.51483714G>A	ENSP00000375683:p.Thr84Met		A8K0U5|Q8N5N9|Q8NFV7	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T84M	ENST00000391807.1	37	c.251	CCDS12812.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.02	1.236982	0.22711	.	.	ENSG00000169035	ENST00000304045;ENST00000391807	D	0.93133	-3.17	4.28	-8.56	0.00904	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	3.110130	0.02768	U	0.119366	D	0.82314	0.5010	L	0.32530	0.975	0.09310	N	0.999997	P	0.48016	0.904	B	0.29267	0.1	T	0.79799	-0.1651	10	0.87932	D	0	.	2.0239	0.03515	0.2368:0.3964:0.1143:0.2525	.	84	P49862	KLK7_HUMAN	M	84	ENSP00000375683:T84M	ENSP00000304791:T84M	T	-	2	0	KLK7	56175526	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.722000	0.01868	-2.311000	0.00649	-0.820000	0.03113	ACG	KLK7	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000169035		0.562	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK7	HGNC	protein_coding	OTTHUMT00000464344.1	303	0.00	0	G	NM_005046		51483714	51483714	-1	no_errors	ENST00000304045	ensembl	human	known	69_37n	missense	92	16.96	19	SNP	0.000	A
LGALS8	3964	genome.wustl.edu	37	1	236706922	236706924	+	In_Frame_Del	DEL	AGG	AGG	-	rs202084446		TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr1:236706922_236706924delAGG	ENST00000366584.4	+	8	1178_1180	c.612_614delAGG	c.(610-615)aaagga>aaa	p.G205del	LGALS8_ENST00000526589.1_In_Frame_Del_p.G247del|LGALS8_ENST00000450372.2_In_Frame_Del_p.G247del|LGALS8_ENST00000527974.1_In_Frame_Del_p.G247del|LGALS8_ENST00000416919.2_In_Frame_Del_p.G188del|LGALS8_ENST00000341872.6_In_Frame_Del_p.G205del|RP11-385F5.4_ENST00000433131.1_RNA|LGALS8_ENST00000526634.1_In_Frame_Del_p.G205del|LGALS8_ENST00000323938.6_In_Frame_Del_p.G178del|LGALS8_ENST00000352231.2_In_Frame_Del_p.G247del|LGALS8_ENST00000525042.1_In_Frame_Del_p.G188del	NM_201544.2	NP_963838.1	O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	205	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				plasma cell differentiation (GO:0002317)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCGTCGTTAAAGGAGAAGTGAAT	0.547																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X91790	CCDS1611.1, CCDS1612.1	1q43	2011-08-04	2008-07-25		ENSG00000116977	ENSG00000116977		"""Lectins, galactoside-binding"""	6569	protein-coding gene	gene with protein product	"""galectin 8"""	606099				7852431, 8692978	Standard	NM_201545		Approved	PCTA-1	uc001hxy.2	O00214	OTTHUMG00000039953	ENST00000366584.4:c.612_614delAGG	1.37:g.236706922_236706924delAGG	ENSP00000355543:p.Gly205del		O15215|Q5T3P5|Q5T3Q4|Q8TEV1|Q96B92|Q9BXC8|Q9H584|Q9H585|Q9UEZ6|Q9UP32|Q9UP33|Q9UP34	In_Frame_Del	DEL	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.G247in_frame_del	ENST00000366584.4	37	c.738_740	CCDS1612.1	1																																																																																			LGALS8	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000116977		0.547	LGALS8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS8	HGNC	protein_coding	OTTHUMT00000096365.2	210	0.00	0	AGG	NM_006499		236706922	236706924	+1	no_errors	ENST00000352231	ensembl	human	known	69_37n	in_frame_del	105	28.38	42	DEL	1.000:1.000:1.000	-
MOGAT3	346606	genome.wustl.edu	37	7	100839243	100839243	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr7:100839243C>A	ENST00000223114.4	-	7	1176	c.1010G>T	c.(1009-1011)tGc>tTc	p.C337F	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Silent_p.L269L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	337					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAAGGTGAGGCAGGTGGAAGC	0.602																																						dbGAP											0													74.0	73.0	73.0					7																	100839243		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.1010G>T	7.37:g.100839243C>A	ENSP00000223114:p.Cys337Phe		Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	pfam_DAGAT	p.C337F	ENST00000223114.4	37	c.1010	CCDS5714.1	7	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363727	0.24684	.	.	ENSG00000106384	ENST00000223114	T	0.13307	2.6	5.03	-1.94	0.07571	.	0.719330	0.14051	N	0.344767	T	0.05914	0.0154	N	0.14661	0.345	0.29212	N	0.874491	B	0.30709	0.291	B	0.22601	0.04	T	0.20806	-1.0264	10	0.54805	T	0.06	.	5.3084	0.15817	0.0:0.3558:0.1589:0.4853	.	337	Q86VF5	MOGT3_HUMAN	F	337	ENSP00000223114:C337F	ENSP00000223114:C337F	C	-	2	0	MOGAT3	100625963	0.000000	0.05858	0.024000	0.17045	0.003000	0.03518	-0.780000	0.04654	-0.618000	0.05656	-0.820000	0.03113	TGC	MOGAT3	-	pfam_DAGAT	ENSG00000106384		0.602	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT3	HGNC	protein_coding	OTTHUMT00000059649.3	143	0.69	1	C	NM_178176		100839243	100839243	-1	no_errors	ENST00000223114	ensembl	human	known	69_37n	missense	47	42.68	35	SNP	0.011	A
NEUROG3	50674	genome.wustl.edu	37	10	71332756	71332756	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr10:71332756C>G	ENST00000242462.4	-	2	73	c.44G>C	c.(43-45)cGt>cCt	p.R15P	RP11-343J3.2_ENST00000428753.1_RNA	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	15					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CTCCGTCTCACGGGTCACTTG	0.677																																						dbGAP											0													43.0	48.0	47.0					10																	71332756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.44G>C	10.37:g.71332756C>G	ENSP00000242462:p.Arg15Pro		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.R15P	ENST00000242462.4	37	c.44	CCDS31212.1	10	.	.	.	.	.	.	.	.	.	.	C	3.862	-0.029744	0.07589	.	.	ENSG00000122859	ENST00000242462	D	0.94330	-3.4	4.69	-8.44	0.00950	.	17.827300	0.00166	U	0.000006	T	0.80507	0.4636	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72384	-0.4310	10	0.31617	T	0.26	2.4082	0.7377	0.00968	0.3346:0.3365:0.111:0.218	.	15	Q9Y4Z2	NGN3_HUMAN	P	15	ENSP00000242462:R15P	ENSP00000242462:R15P	R	-	2	0	NEUROG3	71002762	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-2.014000	0.01449	-2.087000	0.00862	-0.150000	0.13652	CGT	NEUROG3	-	NULL	ENSG00000122859		0.677	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG3	HGNC	protein_coding	OTTHUMT00000048464.1	25	0.00	0	C	NM_020999		71332756	71332756	-1	no_errors	ENST00000242462	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.000	G
NUDT8	254552	genome.wustl.edu	37	11	67396411	67396411	+	Frame_Shift_Del	DEL	C	C	-	rs202112218		TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr11:67396411delC	ENST00000376693.2	-	2	315	c.306delG	c.(304-306)ctgfs	p.L103fs	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_Frame_Shift_Del_p.L103fs	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	103	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CAGGCCGCAGCAGGCCCCACA	0.672											OREG0021134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													53.0	56.0	55.0					11																	67396411		2200	4294	6494	-	-	-	SO:0001589	frameshift_variant	0			AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"""Nudix motif containing"""	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.306delG	11.37:g.67396411delC	ENSP00000365883:p.Leu103fs	1099	Q6ZW59	Frame_Shift_Del	DEL	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.L103fs	ENST00000376693.2	37	c.306	CCDS58151.1	11																																																																																			NUDT8	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000167799		0.672	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUDT8	HGNC	protein_coding	OTTHUMT00000394036.1	50	0.00	0	C	NM_181843		67396411	67396411	-1	no_errors	ENST00000376693	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	0.040	-
NUP160	23279	genome.wustl.edu	37	11	47808045	47808045	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr11:47808045C>T	ENST00000378460.2	-	32	3854	c.3808G>A	c.(3808-3810)Gcc>Acc	p.A1270T	NUP160_ENST00000530326.1_Missense_Mutation_p.A1156T	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1270					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGCTGATTGGCTGCTAGCCAG	0.463																																						dbGAP											0													94.0	88.0	90.0					11																	47808045		2201	4298	6499	-	-	-	SO:0001583	missense	0			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3808G>A	11.37:g.47808045C>T	ENSP00000367721:p.Ala1270Thr		B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	pfam_Nucleoporin_Nup160	p.A1270T	ENST00000378460.2	37	c.3808	CCDS31484.1	11	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216295	0.58452	.	.	ENSG00000030066	ENST00000378460;ENST00000530326	T;T	0.44482	1.47;0.92	5.73	4.81	0.61882	.	0.156920	0.56097	N	0.000030	T	0.34861	0.0912	L	0.50333	1.59	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	T	0.12578	-1.0542	10	0.13853	T	0.58	.	11.4951	0.50404	0.1251:0.8084:0.0:0.0666	.	1270	Q12769	NU160_HUMAN	T	1270;1156	ENSP00000367721:A1270T;ENSP00000433590:A1156T	ENSP00000367721:A1270T	A	-	1	0	NUP160	47764621	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.450000	0.52957	1.404000	0.46819	0.644000	0.83932	GCC	NUP160	-	NULL	ENSG00000030066		0.463	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP160	HGNC	protein_coding	OTTHUMT00000390239.2	121	0.00	0	C	NM_015231		47808045	47808045	-1	no_errors	ENST00000378460	ensembl	human	known	69_37n	missense	66	19.51	16	SNP	1.000	T
PSAP	5660	genome.wustl.edu	37	10	73594255	73594255	+	Silent	SNP	G	G	A	rs199808371		TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr10:73594255G>A	ENST00000394936.3	-	2	195	c.48C>T	c.(46-48)gcC>gcT	p.A16A	PSAP_ENST00000394934.1_Silent_p.A16A			P07602	SAP_HUMAN	prosaposin	16					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GGACCGGGCCGGCTAGAGCTA	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20426	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													33.0	33.0	33.0					10																	73594255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.48C>T	10.37:g.73594255G>A			P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB	p.A16	ENST00000394936.3	37	c.48	CCDS7311.1	10																																																																																			PSAP	-	pirsf_Saposin_chordata	ENSG00000197746		0.582	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSAP	HGNC	protein_coding	OTTHUMT00000048553.1	98	0.00	0	G	NM_002778		73594255	73594255	-1	no_errors	ENST00000373120	ensembl	human	known	69_37n	silent	34	10.53	4	SNP	0.010	A
PTMS	5763	genome.wustl.edu	37	12	6879111	6879111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr12:6879111G>T	ENST00000309083.6	+	3	471	c.142G>T	c.(142-144)Gaa>Taa	p.E48*	PTMS_ENST00000389462.4_Missense_Mutation_p.R73S|LAG3_ENST00000203629.2_5'Flank|PTMS_ENST00000538057.1_3'UTR|LAG3_ENST00000441671.2_5'Flank|MLF2_ENST00000539187.1_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	48	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|liver(1)	5						ggctgaggaggaagaagaaga	0.607																																						dbGAP											0													33.0	35.0	35.0					12																	6879111		1327	2309	3636	-	-	-	SO:0001587	stop_gained	0				CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.142G>T	12.37:g.6879111G>T	ENSP00000310088:p.Glu48*			Nonsense_Mutation	SNP	pfam_Pro/parathymosin	p.E48*	ENST00000309083.6	37	c.142	CCDS8560.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.909827|5.909827	0.97093|0.97093	.|.	.|.	ENSG00000159335|ENSG00000159335	ENST00000309083;ENST00000436860|ENST00000389462	.|.	.|.	.|.	3.9|3.9	3.9|3.9	0.45041|0.45041	.|.	0.507419|.	0.15872|.	N|.	0.240488|.	.|T	.|0.65439	.|0.2691	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76817	.|-0.2819	.|4	0.87932|0.87932	D|D	0|0	.|.	11.2906|11.2906	0.49247|0.49247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	48;47|73	.|.	ENSP00000310088:E48X|ENSP00000374113:R73S	E|R	+|+	1|3	0|2	PTMS|PTMS	6749372|6749372	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	4.395000|4.395000	0.59678|0.59678	2.032000|2.032000	0.59987|0.59987	0.306000|0.306000	0.20318|0.20318	GAA|AGG	PTMS	-	pfam_Pro/parathymosin	ENSG00000159335		0.607	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTMS	HGNC	protein_coding	OTTHUMT00000402841.1	185	0.54	1	G			6879111	6879111	+1	no_errors	ENST00000309083	ensembl	human	known	69_37n	nonsense	182	10.73	22	SNP	1.000	T
PTMS	5763	genome.wustl.edu	37	12	6879322	6879322	+	Splice_Site	SNP	G	G	C			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr12:6879322G>C	ENST00000309083.6	+	4	525		c.e4-1		PTMS_ENST00000389462.4_Splice_Site|LAG3_ENST00000203629.2_5'Flank|PTMS_ENST00000538057.1_Splice_Site|LAG3_ENST00000441671.2_5'Flank|MLF2_ENST00000539187.1_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin						DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|liver(1)	5						TGGCTCCTCAGATGAGGAAGA	0.612																																						dbGAP											0													36.0	33.0	34.0					12																	6879322		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.197-1G>C	12.37:g.6879322G>C				Splice_Site	SNP	-	e4-1	ENST00000309083.6	37	c.274-1	CCDS8560.1	12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703920	0.48412	.	.	ENSG00000159335	ENST00000389462;ENST00000309083;ENST00000436860	.	.	.	3.65	3.65	0.41850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7617	0.46268	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTMS	6749583	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.159000	0.58157	1.903000	0.55091	0.298000	0.19748	.	PTMS	-	-	ENSG00000159335		0.612	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTMS	HGNC	protein_coding	OTTHUMT00000402841.1	110	0.00	0	G		Intron	6879322	6879322	+1	no_errors	ENST00000389462	ensembl	human	known	69_37n	splice_site	122	12.14	17	SNP	1.000	C
SPAG5	10615	genome.wustl.edu	37	17	26919888	26919888	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr17:26919888T>A	ENST00000321765.5	-	3	706	c.374A>T	c.(373-375)tAt>tTt	p.Y125F		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	125					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTTAACCATATAATTGCCCAG	0.453																																						dbGAP											0													182.0	171.0	175.0					17																	26919888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.374A>T	17.37:g.26919888T>A	ENSP00000323300:p.Tyr125Phe		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.Y125F	ENST00000321765.5	37	c.374	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	T	3.752	-0.051322	0.07407	.	.	ENSG00000076382	ENST00000321765	T	0.21191	2.02	5.82	-4.04	0.04010	.	1.887680	0.02236	N	0.065325	T	0.12178	0.0296	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.27839	-1.0062	10	0.59425	D	0.04	0.1081	0.8456	0.01161	0.2531:0.2989:0.1235:0.3244	.	125	Q96R06	SPAG5_HUMAN	F	125	ENSP00000323300:Y125F	ENSP00000323300:Y125F	Y	-	2	0	SPAG5	23944015	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.036000	0.03560	-0.430000	0.07318	-0.313000	0.08912	TAT	SPAG5	-	NULL	ENSG00000076382		0.453	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	487	0.00	0	T	NM_006461		26919888	26919888	-1	no_errors	ENST00000321765	ensembl	human	known	69_37n	missense	233	19.10	55	SNP	0.000	A
TBC1D4	9882	genome.wustl.edu	37	13	75933979	75933980	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr13:75933979_75933980delTC	ENST00000377636.3	-	3	1441_1442	c.1095_1096delGA	c.(1093-1098)gagattfs	p.EI365fs	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Frame_Shift_Del_p.EI365fs|TBC1D4_ENST00000377625.2_Frame_Shift_Del_p.EI365fs	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	365	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		ATAAGGTTAATCTCAAATCGCC	0.277																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1095_1096delGA	13.37:g.75933981_75933982delTC	ENSP00000366863:p.Glu365fs		A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E365fs	ENST00000377636.3	37	c.1096_1095	CCDS41901.1	13																																																																																			TBC1D4	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom	ENSG00000136111		0.277	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	97	0.00	0	TC	NM_014832		75933979	75933980	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	frame_shift_del	79	14.89	14	DEL	1.000:1.000	-
TTN	7273	genome.wustl.edu	37	2	179429426	179429426	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr2:179429426A>C	ENST00000591111.1	-	276	76734	c.76510T>G	c.(76510-76512)Ttc>Gtc	p.F25504V	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F18205V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F27145V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F18272V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F18080V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F24577V			Q8WZ42	TITIN_HUMAN	titin	25504	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAACTTTGAACTCATACTCA	0.433																																						dbGAP											0													45.0	46.0	45.0					2																	179429426		1885	4119	6004	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76510T>G	2.37:g.179429426A>C	ENSP00000465570:p.Phe25504Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.F24577V	ENST00000591111.1	37	c.73729		2	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398727	0.42512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70064	0.3181	M	0.82823	2.61	0.58432	D	0.999999	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.53988	0.739;0.739;0.739;0.739	T	0.75317	-0.3360	9	0.87932	D	0	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	18080;18205;18272;25504	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	24577;18080;18272;18205;18078	ENSP00000343764:F24577V;ENSP00000434586:F18080V;ENSP00000340554:F18272V;ENSP00000352154:F18205V	ENSP00000340554:F18272V	F	-	1	0	TTN	179137672	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.339000	0.96797	2.304000	0.77564	0.528000	0.53228	TTC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	105	0.00	0	A	NM_133378		179429426	179429426	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	52	27.78	20	SNP	1.000	C
UBR7	55148	genome.wustl.edu	37	14	93686624	93686624	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr14:93686624delC	ENST00000013070.6	+	9	1226	c.990delC	c.(988-990)ttcfs	p.F330fs	UBR7_ENST00000416753.1_Frame_Shift_Del_p.F254fs	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	330							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						ATGTCTTATTCCTGACAGATG	0.393																																						dbGAP											0													96.0	99.0	98.0					14																	93686624		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.990delC	14.37:g.93686624delC	ENSP00000013070:p.Phe330fs		Q86U21|Q86UA9|Q96BY0|Q9NVV6	Frame_Shift_Del	DEL	pfam_Znf_N-recognin,superfamily_Znf_FYVE_PHD,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L331fs	ENST00000013070.6	37	c.990	CCDS9909.1	14																																																																																			UBR7	-	NULL	ENSG00000012963		0.393	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR7	HGNC	protein_coding	OTTHUMT00000412693.1	68	0.00	0	C	NM_175748		93686624	93686624	+1	no_errors	ENST00000013070	ensembl	human	known	69_37n	frame_shift_del	38	21.15	11	DEL	1.000	-
USP31	57478	genome.wustl.edu	37	16	23096260	23096260	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr16:23096260C>T	ENST00000219689.7	-	11	1750	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R584H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTTTGCAGACGAACACTTTC	0.443																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|central_nervous_system(1)											275.0	266.0	269.0					16																	23096260		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.1751G>A	16.37:g.23096260C>T	ENSP00000219689:p.Arg584His		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R584H	ENST00000219689.7	37	c.1751	CCDS10607.1	16	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702865	0.88924	.	.	ENSG00000103404	ENST00000219689	T	0.09163	3.01	5.91	5.91	0.95273	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.270419	0.35646	N	0.003064	T	0.25606	0.0623	L	0.35854	1.095	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.00106	-1.2054	10	0.51188	T	0.08	-13.367	19.2867	0.94077	0.0:1.0:0.0:0.0	.	584	Q70CQ4	UBP31_HUMAN	H	584	ENSP00000219689:R584H	ENSP00000219689:R584H	R	-	2	0	USP31	23003761	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.527000	0.67123	2.793000	0.96121	0.655000	0.94253	CGT	USP31	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000103404		0.443	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP31	HGNC	protein_coding	OTTHUMT00000211607.1	270	0.00	0	C	NM_020718		23096260	23096260	-1	no_errors	ENST00000219689	ensembl	human	known	69_37n	missense	91	24.59	30	SNP	1.000	T
ZBTB42	100128927	genome.wustl.edu	37	14	105268210	105268210	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr14:105268210G>A	ENST00000342537.7	+	1	961	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	ZBTB42_ENST00000555360.1_Missense_Mutation_p.E226K	NM_001137601.1	NP_001131073.1	B2RXF5	ZBT42_HUMAN	zinc finger and BTB domain containing 42	226	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGTGAAGGACGAACGGGACTC	0.667																																						dbGAP											0													22.0	30.0	27.0					14																	105268210		692	1588	2280	-	-	-	SO:0001583	missense	0			AX721091	CCDS45174.1	14q32.33	2013-01-09				ENSG00000179627		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	32550	protein-coding gene	gene with protein product		613915					Standard	NM_001137601		Approved	ZNF925	uc001ypp.3	B2RXF5		ENST00000342537.7:c.676G>A	14.37:g.105268210G>A	ENSP00000409107:p.Glu226Lys		B7ZW21	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E226K	ENST00000342537.7	37	c.676	CCDS45174.1	14	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978047	0.34942	.	.	ENSG00000179627	ENST00000555360;ENST00000342537	T;T	0.13657	2.57;2.57	3.68	1.74	0.24563	.	.	.	.	.	T	0.18635	0.0447	L	0.32530	0.975	0.40562	D	0.981226	D	0.71674	0.998	P	0.58331	0.837	T	0.01371	-1.1372	9	0.46703	T	0.11	.	9.5357	0.39220	0.0:0.1559:0.6824:0.1617	.	226	B2RXF5	ZBT42_HUMAN	K	226	ENSP00000450673:E226K;ENSP00000409107:E226K	ENSP00000409107:E226K	E	+	1	0	ZBTB42	104339255	1.000000	0.71417	0.006000	0.13384	0.025000	0.11179	3.174000	0.50847	0.211000	0.20683	0.462000	0.41574	GAA	ZBTB42	-	NULL	ENSG00000179627		0.667	ZBTB42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB42	HGNC	protein_coding	OTTHUMT00000410372.1	24	0.00	0	G			105268210	105268210	+1	no_errors	ENST00000342537	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	0.992	A
ZNF239	8187	genome.wustl.edu	37	10	44052732	44052732	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A14T-01A-11D-A10Y-09	TCGA-E2-A14T-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	14c1c6b6-575e-416b-b219-15552b62ea74	8e0edd30-4ae0-4245-bd91-0ae937ae0599	g.chr10:44052732C>G	ENST00000306006.6	-	2	1448	c.796G>C	c.(796-798)Gac>Cac	p.D266H	ZNF239_ENST00000491188.1_5'Flank|ZNF239_ENST00000426961.1_Missense_Mutation_p.D266H|ZNF239_ENST00000374446.2_Missense_Mutation_p.D266H|ZNF239_ENST00000535642.1_Missense_Mutation_p.D266H	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	266			D -> E (in dbSNP:rs1128865). {ECO:0000269|PubMed:8587123}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCACACTTGTCACACTTATAA	0.488																																						dbGAP											0													140.0	141.0	141.0					10																	44052732		2121	4267	6388	-	-	-	SO:0001583	missense	0			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.796G>C	10.37:g.44052732C>G	ENSP00000307774:p.Asp266His		Q5T1G9|Q8TAS5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D266H	ENST00000306006.6	37	c.796	CCDS41502.1	10	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286281	0.40494	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.19806	2.12;2.12;2.12;2.12	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38931	0.1059	L	0.48174	1.505	0.21445	N	0.999681	D	0.89917	1.0	D	0.91635	0.999	T	0.08351	-1.0726	9	0.52906	T	0.07	-24.7901	13.4877	0.61375	0.0:1.0:0.0:0.0	.	266	Q16600	ZN239_HUMAN	H	266	ENSP00000307774:D266H;ENSP00000363569:D266H;ENSP00000398202:D266H;ENSP00000443907:D266H	ENSP00000307774:D266H	D	-	1	0	ZNF239	43372738	0.000000	0.05858	0.989000	0.46669	0.701000	0.40568	-2.144000	0.01296	2.308000	0.77769	0.591000	0.81541	GAC	ZNF239	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196793		0.488	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF239	HGNC	protein_coding	OTTHUMT00000047710.1	370	0.00	0	C			44052732	44052732	-1	no_errors	ENST00000306006	ensembl	human	known	69_37n	missense	115	23.33	35	SNP	0.426	G
