#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
ACLY	47	genome.wustl.edu	37	17	40042364	40042364	+	Splice_Site	SNP	C	C	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr17:40042364C>T	ENST00000352035.2	-	18	2203		c.e18+1		ACLY_ENST00000537919.1_Splice_Site|ACLY_ENST00000353196.1_Splice_Site|ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000590151.1_Splice_Site	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase						ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CAGCTGATTACCTGTCCCCAC	0.582																																					Colon(64;807 1396 15971 30971)	dbGAP											0													202.0	199.0	200.0					17																	40042364		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2072+1G>A	17.37:g.40042364C>T			B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	-	e17+1	ENST00000352035.2	37	c.2072+1	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905793	0.92107	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1789	0.86849	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACLY	37295890	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.770000	0.85390	2.507000	0.84556	0.558000	0.71614	.	ACLY	-	-	ENSG00000131473		0.582	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	82	0.00	0	C	NM_001096	Intron	40042364	40042364	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	splice_site	50	39.76	33	SNP	1.000	T
BTNL8	79908	genome.wustl.edu	37	5	180377233	180377233	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr5:180377233G>A	ENST00000340184.4	+	8	1398	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I	BTNL8_ENST00000511704.1_Missense_Mutation_p.V282I|BTNL8_ENST00000400707.3_Missense_Mutation_p.V273I|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.V191I|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.V214I	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	398	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTTTATCAGCGTCTTCCCCAG	0.458																																						dbGAP											0													138.0	119.0	125.0					5																	180377233		1943	3806	5749	-	-	-	SO:0001583	missense	0			AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.1192G>A	5.37:g.180377233G>A	ENSP00000342197:p.Val398Ile		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.V398I	ENST00000340184.4	37	c.1192	CCDS43413.1	5	.	.	.	.	.	.	.	.	.	.	G	6.197	0.404598	0.11754	.	.	ENSG00000113303	ENST00000340184;ENST00000400707;ENST00000511704;ENST00000505126;ENST00000533815	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	1.85	-0.15	0.13416	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.35624	0.0938	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.25293	-1.0136	9	0.54805	T	0.06	.	0.9112	0.01295	0.2309:0.3799:0.2294:0.1599	.	273;282;398	E9PG07;E9PEF6;Q6UX41	.;.;BTNL8_HUMAN	I	398;273;282;191;214	ENSP00000342197:V398I;ENSP00000383543:V273I;ENSP00000425207:V282I;ENSP00000427441:V191I;ENSP00000435098:V214I	ENSP00000342197:V398I	V	+	1	0	BTNL8	180309839	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.157000	0.10085	-0.251000	0.09542	-0.495000	0.04643	GTC	BTNL8	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	ENSG00000113303		0.458	BTNL8-002	KNOWN	basic|CCDS	protein_coding	BTNL8	HGNC	protein_coding	OTTHUMT00000368440.1	162	0.00	0	G	NM_024850		180377233	180377233	+1	no_errors	ENST00000340184	ensembl	human	known	69_37n	missense	35	74.26	101	SNP	0.000	A
TMEM243	79161	genome.wustl.edu	37	7	86825961	86825961	+	Silent	SNP	C	C	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr7:86825961C>T	ENST00000433078.1	-	5	789	c.348G>A	c.(346-348)gtG>gtA	p.V116V	TMEM243_ENST00000257637.3_Silent_p.V116V|TMEM243_ENST00000481425.1_5'UTR			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	116						integral component of membrane (GO:0016021)											CTCACCTTCCCACATCATGGA	0.373																																						dbGAP											0													106.0	102.0	103.0					7																	86825961		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.348G>A	7.37:g.86825961C>T			A4D1C6|B2R9I4|D6W5P1	Silent	SNP	pfam_DUF2678	p.V116	ENST00000433078.1	37	c.348	CCDS5602.1	7																																																																																			C7orf23	-	pfam_DUF2678	ENSG00000135185		0.373	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf23	HGNC	protein_coding	OTTHUMT00000334412.1	146	0.00	0	C	NM_024315		86825961	86825961	-1	no_errors	ENST00000257637	ensembl	human	known	69_37n	silent	82	40.58	56	SNP	1.000	T
CABIN1	23523	genome.wustl.edu	37	22	24463095	24463095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr22:24463095delC	ENST00000398319.2	+	16	2580	c.2195delC	c.(2194-2196)tccfs	p.S732fs	CABIN1_ENST00000405822.2_Frame_Shift_Del_p.S682fs|CABIN1_ENST00000263119.5_Frame_Shift_Del_p.S732fs	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	732					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTATGACTTCCATTCCTGAG	0.542																																						dbGAP											0													67.0	67.0	67.0					22																	24463095		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2195delC	22.37:g.24463095delC	ENSP00000381364:p.Ser732fs		G5E9F3|Q6PHY0|Q9Y460	Frame_Shift_Del	DEL	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I733fs	ENST00000398319.2	37	c.2195	CCDS13823.1	22																																																																																			CABIN1	-	NULL	ENSG00000099991		0.542	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	101	0.00	0	C	NM_012295		24463095	24463095	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	frame_shift_del	22	54.17	26	DEL	0.996	-
CHD1	1105	genome.wustl.edu	37	5	98236686	98236686	+	Silent	SNP	T	T	G			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr5:98236686T>G	ENST00000284049.3	-	6	837	c.688A>C	c.(688-690)Aga>Cga	p.R230R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	230					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CGAGAACTTCTTTTATCATTA	0.358																																						dbGAP											0													154.0	149.0	151.0					5																	98236686		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.688A>C	5.37:g.98236686T>G			Q17RZ3	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R230	ENST00000284049.3	37	c.688	CCDS34204.1	5																																																																																			CHD1	-	NULL	ENSG00000153922		0.358	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	376	0.00	0	T	NM_001270		98236686	98236686	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	silent	200	27.96	78	SNP	1.000	G
COPA	1314	genome.wustl.edu	37	1	160261650	160261650	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr1:160261650G>C	ENST00000241704.7	-	30	3446	c.3217C>G	c.(3217-3219)Ctg>Gtg	p.L1073V	COPA_ENST00000368069.3_Missense_Mutation_p.L1082V	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1073					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTTTGGGCAGCTTCTTCCTT	0.522											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													243.0	245.0	244.0					1																	160261650		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3217C>G	1.37:g.160261650G>C	ENSP00000241704:p.Leu1073Val	1807	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1082V	ENST00000241704.7	37	c.3244	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199563	0.38806	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.56275	0.47;0.47	6.17	5.17	0.71159	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	M	0.73372	2.23	0.58432	D	0.999997	B;B	0.26744	0.003;0.158	B;B	0.21546	0.005;0.035	T	0.30060	-0.9991	10	0.39692	T	0.17	-10.8302	12.3568	0.55180	0.1078:0.0:0.8922:0.0	.	1073;1082	P53621;P53621-2	COPA_HUMAN;.	V	1082;1073	ENSP00000357048:L1082V;ENSP00000241704:L1073V	ENSP00000241704:L1073V	L	-	1	2	COPA	158528274	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.218000	0.42889	2.941000	0.99782	0.655000	0.94253	CTG	COPA	-	pfam_Coatomer_asu_C,pirsf_Coatomer_asu	ENSG00000122218		0.522	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	215	0.00	0	G	NM_004371		160261650	160261650	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	missense	96	29.20	40	SNP	1.000	C
CUL7	9820	genome.wustl.edu	37	6	43014812	43014812	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr6:43014812delG	ENST00000265348.3	-	10	2288	c.2203delC	c.(2203-2205)ctgfs	p.L735fs	CUL7_ENST00000535468.1_Frame_Shift_Del_p.L819fs|CUL7_ENST00000478630.1_5'UTR			Q14999	CUL7_HUMAN	cullin 7	735					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ACTGAGGTCAGGCGGTGCAGG	0.577																																						dbGAP											0													105.0	97.0	100.0					6																	43014812		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.2203delC	6.37:g.43014812delG	ENSP00000265348:p.Leu735fs		B4DYZ0|F5H0L1|Q5T654	Frame_Shift_Del	DEL	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L819fs	ENST00000265348.3	37	c.2455	CCDS4881.1	6																																																																																			CUL7	-	superfamily_ARM-type_fold	ENSG00000044090		0.577	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	62	0.00	0	G	NM_014780		43014812	43014812	-1	no_errors	ENST00000535468	ensembl	human	known	69_37n	frame_shift_del	43	23.21	13	DEL	1.000	-
ECE1	1889	genome.wustl.edu	37	1	21546502	21546502	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr1:21546502G>C	ENST00000374893.6	-	19	2333	c.2259C>G	c.(2257-2259)ttC>ttG	p.F753L	ECE1_ENST00000357071.4_Missense_Mutation_p.F741L|ECE1_ENST00000436918.2_Missense_Mutation_p.F721L|ECE1_ENST00000264205.6_Missense_Mutation_p.F750L|ECE1_ENST00000415912.2_Missense_Mutation_p.F737L	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	753					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGGGCAGCGGAAGTGTTCTG	0.617																																						dbGAP											0													99.0	91.0	94.0					1																	21546502		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.2259C>G	1.37:g.21546502G>C	ENSP00000364028:p.Phe753Leu		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.F753L	ENST00000374893.6	37	c.2259	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104481	0.56291	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48;-3.48	4.97	3.06	0.35304	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98429	0.9477	H	0.99634	4.67	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.992;1.0;0.999;0.999;1.0	D	0.97243	0.9892	10	0.87932	D	0	-28.1576	10.5178	0.44900	0.1631:0.0:0.8369:0.0	.	721;737;753;741;750	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	L	737;741;753;721;750	ENSP00000405088:F737L;ENSP00000349581:F741L;ENSP00000364028:F753L;ENSP00000388439:F721L;ENSP00000264205:F750L	ENSP00000264205:F750L	F	-	3	2	ECE1	21419089	0.987000	0.35691	0.998000	0.56505	0.342000	0.28953	1.804000	0.38873	0.487000	0.27698	0.448000	0.29417	TTC	ECE1	-	pfam_Peptidase_M13_C	ENSG00000117298		0.617	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	182	0.00	0	G	NM_001397		21546502	21546502	-1	no_errors	ENST00000374893	ensembl	human	known	69_37n	missense	34	60.92	53	SNP	1.000	C
FER1L6	654463	genome.wustl.edu	37	8	125047696	125047696	+	Splice_Site	SNP	G	G	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr8:125047696G>T	ENST00000522917.1	+	19	2670		c.e19+1		FER1L6_ENST00000399018.1_Splice_Site|FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTCTACCAAGGTAGGGTCCCC	0.502																																						dbGAP											0													41.0	39.0	40.0					8																	125047696		1910	4117	6027	-	-	-	SO:0001630	splice_region_variant	0			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2464+1G>T	8.37:g.125047696G>T				Splice_Site	SNP	-	e18+1	ENST00000522917.1	37	c.2464+1	CCDS43767.1	8	.	.	.	.	.	.	.	.	.	.	G	12.06	1.824318	0.32237	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.237	0.87001	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FER1L6	125116877	1.000000	0.71417	1.000000	0.80357	0.076000	0.17211	5.006000	0.63978	2.417000	0.82017	0.655000	0.94253	.	FER1L6	-	-	ENSG00000214814		0.502	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	83	0.00	0	G	NM_001039112	Intron	125047696	125047696	+1	no_errors	ENST00000399018	ensembl	human	known	69_37n	splice_site	92	26.98	34	SNP	1.000	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23685786	23685786	+	Silent	SNP	G	G	A	rs574416569	byFrequency	TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr15:23685786G>A	ENST00000567107.1	-	8	1888	c.1836C>T	c.(1834-1836)gaC>gaT	p.D612D	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						ctgctcctgcgtcttcttctc	0.592													-|||	2	0.000399361	0.0	0.0	5008	,	,		22682	0.001		0.001	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1836C>T	15.37:g.23685786G>A			A1L301	Silent	SNP	NULL	p.D612	ENST00000567107.1	37	c.1836		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.592	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	28	0.00	0	G	NM_182561		23685786	23685786	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	silent	27	20.59	7	SNP	0.069	A
GPR179	440435	genome.wustl.edu	37	17	36491508	36491508	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr17:36491508T>C	ENST00000342292.4	-	6	1392	c.1372A>G	c.(1372-1374)Atc>Gtc	p.I458V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	458					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CCGTAGACGATGGCAAAACCC	0.547																																						dbGAP											0													74.0	84.0	80.0					17																	36491508		2067	4225	6292	-	-	-	SO:0001583	missense	0				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1372A>G	17.37:g.36491508T>C	ENSP00000345060:p.Ile458Val			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.I458V	ENST00000342292.4	37	c.1372	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	T	10.27	1.304915	0.23736	.	.	ENSG00000188888	ENST00000342292	D	0.87571	-2.27	5.3	1.93	0.25924	GPCR, family 3, C-terminal (2);	0.536654	0.17628	N	0.167497	T	0.80560	0.4646	L	0.47078	1.49	0.23304	N	0.997943	B	0.24426	0.103	B	0.22152	0.038	T	0.66320	-0.5953	10	0.34782	T	0.22	4.0E-4	8.122	0.30976	0.0:0.2451:0.0:0.7549	.	458	Q6PRD1	GP179_HUMAN	V	458	ENSP00000345060:I458V	ENSP00000345060:I458V	I	-	1	0	GPR179	33745034	0.996000	0.38824	0.052000	0.19188	0.619000	0.37552	2.711000	0.47177	0.143000	0.18926	0.533000	0.62120	ATC	GPR179	-	pfam_GPCR_3_C,pfscan_GPCR_3_C	ENSG00000188888		0.547	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	104	0.00	0	T			36491508	36491508	-1	no_errors	ENST00000342292	ensembl	human	known	69_37n	missense	55	27.63	21	SNP	0.834	C
HMGB2	3148	genome.wustl.edu	37	4	174254765	174254765	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr4:174254765T>A	ENST00000296503.5	-	2	909	c.36A>T	c.(34-36)aaA>aaT	p.K12N	HMGB2_ENST00000446922.2_Missense_Mutation_p.K12N|HMGB2_ENST00000438704.2_Missense_Mutation_p.K12N			P26583	HMGB2_HUMAN	high mobility group box 2	12					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ACGAGGACATTTTGCCCCGCG	0.602																																						dbGAP											0													76.0	78.0	77.0					4																	174254765		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.36A>T	4.37:g.174254765T>A	ENSP00000296503:p.Lys12Asn		B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.K12N	ENST00000296503.5	37	c.36	CCDS3816.1	4	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544074	0.65198	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.45	-4.61	0.03380	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.000000	0.64402	D	0.000002	T	0.30727	0.0774	L	0.45581	1.43	0.58432	D	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.02917	-1.1094	10	0.87932	D	0	.	17.1171	0.86692	0.0:0.7793:0.0:0.2207	.	12	P26583	HMGB2_HUMAN	N	12	ENSP00000296503:K12N;ENSP00000393448:K12N;ENSP00000404912:K12N;ENSP00000423001:K12N	ENSP00000296503:K12N	K	-	3	2	HMGB2	174491340	0.020000	0.18652	0.948000	0.38648	0.066000	0.16364	-0.798000	0.04565	-0.901000	0.03891	-0.371000	0.07208	AAA	HMGB2	-	superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000164104		0.602	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1	129	0.00	0	T	NM_001130688		174254765	174254765	-1	no_errors	ENST00000296503	ensembl	human	known	69_37n	missense	87	25.64	30	SNP	0.941	A
HNRNPH1	3187	genome.wustl.edu	37	5	179044055	179044055	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr5:179044055A>T	ENST00000356731.5	-	9	2649	c.1114T>A	c.(1114-1116)Tac>Aac	p.Y372N	HNRNPH1_ENST00000393432.4_Missense_Mutation_p.Y372N|HNRNPH1_ENST00000511300.2_Missense_Mutation_p.Y102N|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.Y372N|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.Y372N|HNRNPH1_ENST00000524180.1_5'Flank|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.Y372N			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	372	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TGGCTACCGTAAGCACCACCG	0.373																																						dbGAP											0													104.0	101.0	102.0					5																	179044055		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.1114T>A	5.37:g.179044055A>T	ENSP00000349168:p.Tyr372Asn		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.Y372N	ENST00000356731.5	37	c.1114	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	a	19.38	3.815590	0.70912	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000511300;ENST00000519033	T;T;T;T;T;T;T	0.10960	2.84;2.84;2.84;2.84;2.82;2.82;2.82	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.18718	0.0449	N	0.22421	0.69	0.58432	D	0.999999	D;B	0.76494	0.999;0.0	D;B	0.69307	0.963;0.001	T	0.13124	-1.0521	10	0.20046	T	0.44	.	15.8163	0.78604	1.0:0.0:0.0:0.0	.	372;372	E9PCY7;P31943	.;HNRH1_HUMAN	N	372;372;372;372;372;102;128	ENSP00000377082:Y372N;ENSP00000397797:Y372N;ENSP00000349168:Y372N;ENSP00000327539:Y372N;ENSP00000426275:Y372N;ENSP00000444220:Y102N;ENSP00000429481:Y128N	ENSP00000327539:Y372N	Y	-	1	0	HNRNPH1	178976661	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.700000	0.61803	2.207000	0.71202	0.528000	0.53228	TAC	HNRNPH1	-	NULL	ENSG00000169045		0.373	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	268	0.00	0	A	NM_005520		179044055	179044055	-1	no_errors	ENST00000356731	ensembl	human	known	69_37n	missense	91	40.91	63	SNP	1.000	T
KIAA1755	85449	genome.wustl.edu	37	20	36869418	36869418	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr20:36869418G>A	ENST00000279024.4	-	3	1386	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	372										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTCATGTAGGAGCCTTGGGG	0.547																																						dbGAP											0													127.0	137.0	134.0					20																	36869418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1115C>T	20.37:g.36869418G>A	ENSP00000279024:p.Ser372Phe		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.S372F	ENST00000279024.4	37	c.1115	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274155	0.40194	.	.	ENSG00000149633	ENST00000279024	T	0.08008	3.14	4.91	4.91	0.64330	.	0.310121	0.23463	N	0.047910	T	0.06325	0.0163	N	0.19112	0.55	0.09310	N	1	B	0.33379	0.41	B	0.25405	0.06	T	0.31024	-0.9958	10	0.72032	D	0.01	.	14.9495	0.71060	0.0:0.0:1.0:0.0	.	372	Q5JYT7	K1755_HUMAN	F	372	ENSP00000279024:S372F	ENSP00000279024:S372F	S	-	2	0	KIAA1755	36302832	1.000000	0.71417	0.013000	0.15412	0.002000	0.02628	6.009000	0.70745	2.538000	0.85594	0.655000	0.94253	TCC	KIAA1755	-	NULL	ENSG00000149633		0.547	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	41	0.00	0	G	NM_001029864		36869418	36869418	-1	no_errors	ENST00000279024	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	0.037	A
KISS1R	84634	genome.wustl.edu	37	19	918593	918593	+	Silent	SNP	C	C	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr19:918593C>T	ENST00000234371.5	+	2	447	c.294C>T	c.(292-294)ttC>ttT	p.F98F	KISS1R_ENST00000606939.1_Silent_p.F98F	NM_032551.4	NP_115940.2	Q969F8	KISSR_HUMAN	KISS1 receptor	98					activation of MAPKK activity (GO:0000186)|arachidonic acid secretion (GO:0050482)|calcium-mediated signaling (GO:0019722)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|positive regulation of hormone secretion (GO:0046887)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission (GO:0050806)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide binding (GO:0042923)|neuropeptide receptor activity (GO:0008188)			cervix(1)|kidney(1)|ovary(1)|pancreas(1)|skin(1)	5		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTCCCCTTCACGGCCCTGC	0.697																																						dbGAP											0													34.0	22.0	26.0					19																	918593		2089	4102	6191	-	-	-	SO:0001819	synonymous_variant	0			AB051065	CCDS12049.1	19p13.3	2012-08-10	2006-02-15	2006-02-15	ENSG00000116014	ENSG00000116014		"""GPCR / Class A : RF amide peptide receptors"""	4510	protein-coding gene	gene with protein product		604161	"""G protein-coupled receptor 54"""	GPR54		10100623	Standard	NM_032551		Approved	HOT7T175, AXOR12	uc002lqk.4	Q969F8		ENST00000234371.5:c.294C>T	19.37:g.918593C>T			A5D8U2|B2RTV1|Q96QG0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_KiSS_1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt	p.F98	ENST00000234371.5	37	c.294	CCDS12049.1	19																																																																																			KISS1R	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt	ENSG00000116014		0.697	KISS1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KISS1R	HGNC	protein_coding	OTTHUMT00000458217.3	38	0.00	0	C	NM_032551		918593	918593	+1	no_errors	ENST00000234371	ensembl	human	known	69_37n	silent	8	38.46	5	SNP	1.000	T
LAMA5	3911	genome.wustl.edu	37	20	60886146	60886147	+	Frame_Shift_Del	DEL	TG	TG	-	rs138515494	byFrequency	TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr20:60886146_60886147delTG	ENST00000252999.3	-	74	10158_10159	c.10092_10093delCA	c.(10090-10095)cccagtfs	p.S3365fs	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3365	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATGGAGAGACTGGGCCTGGAAG	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10092_10093delCA	20.37:g.60886146_60886147delTG	ENSP00000252999:p.Ser3365fs		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Del	DEL	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.S3367fs	ENST00000252999.3	37	c.10093_10092	CCDS33502.1	20																																																																																			LAMA5	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000130702		0.693	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	26	0.00	0	TG	NM_005560		60886146	60886147	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	frame_shift_del	26	20.59	7	DEL	0.033:0.035	-
LOXL3	84695	genome.wustl.edu	37	2	74762803	74762803	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr2:74762803C>A	ENST00000264094.3	-	8	1399	c.1328G>T	c.(1327-1329)gGc>gTc	p.G443V	LOXL3_ENST00000393937.2_Missense_Mutation_p.G298V|LOXL3_ENST00000409986.1_Missense_Mutation_p.G298V|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	443	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						ACAGATGAGGCCCCAGCGAAG	0.637																																						dbGAP											0													54.0	66.0	62.0					2																	74762803		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1328G>T	2.37:g.74762803C>A	ENSP00000264094:p.Gly443Val		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.G443V	ENST00000264094.3	37	c.1328	CCDS1953.1	2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332353	0.81801	.	.	ENSG00000115318	ENST00000264094;ENST00000393937;ENST00000409986	T;T;T	0.42900	0.96;0.96;0.96	5.02	5.02	0.67125	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.79616	0.4476	H	0.99249	4.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.87856	0.2661	10	0.87932	D	0	.	16.2052	0.82122	0.0:1.0:0.0:0.0	.	298;298;443	B9A025;Q6IPL7;P58215	.;.;LOXL3_HUMAN	V	443;298;298	ENSP00000264094:G443V;ENSP00000377512:G298V;ENSP00000386545:G298V	ENSP00000264094:G443V	G	-	2	0	LOXL3	74616311	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.651000	0.83577	2.769000	0.95229	0.563000	0.77884	GGC	LOXL3	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000115318		0.637	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	45	0.00	0	C	NM_032603		74762803	74762803	-1	no_errors	ENST00000264094	ensembl	human	known	69_37n	missense	24	44.19	19	SNP	1.000	A
LRRC4B	94030	genome.wustl.edu	37	19	51021653	51021653	+	Silent	SNP	C	C	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr19:51021653C>A	ENST00000599957.1	-	3	1514	c.1317G>T	c.(1315-1317)acG>acT	p.T439T	LRRC4B_ENST00000389201.3_Silent_p.T439T			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	439	Ig-like C2-type.				positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGCTGAGTTCGTCACCATGC	0.706																																						dbGAP											0													55.0	63.0	60.0					19																	51021653		2183	4263	6446	-	-	-	SO:0001819	synonymous_variant	0			BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1317G>T	19.37:g.51021653C>A			Q3ZCQ4|Q58F20	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T439	ENST00000599957.1	37	c.1317	CCDS42595.1	19																																																																																			LRRC4B	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000131409		0.706	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4B	HGNC	protein_coding	OTTHUMT00000464907.1	40	0.00	0	C	NM_001080457		51021653	51021653	-1	no_errors	ENST00000389201	ensembl	human	known	69_37n	silent	23	25.81	8	SNP	0.999	A
MAGEB1	4112	genome.wustl.edu	37	X	30268880	30268880	+	Silent	SNP	T	T	C			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chrX:30268880T>C	ENST00000378981.3	+	4	591	c.270T>C	c.(268-270)aaT>aaC	p.N90N	MAGEB1_ENST00000397550.1_Silent_p.N90N|MAGEB1_ENST00000397548.2_Silent_p.N90N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	90										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GTGAGGAAAATGCAAGTTTCT	0.522																																						dbGAP											0													57.0	40.0	46.0					X																	30268880		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.270T>C	X.37:g.30268880T>C			B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.N90	ENST00000378981.3	37	c.270	CCDS14222.1	X																																																																																			MAGEB1	-	pfam_Melanoma_ass_antigen_N	ENSG00000214107		0.522	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB1	HGNC	protein_coding	OTTHUMT00000056160.1	72	0.00	0	T	NM_002363		30268880	30268880	+1	no_errors	ENST00000378981	ensembl	human	known	69_37n	silent	42	26.32	15	SNP	0.000	C
MAP3K1	4214	genome.wustl.edu	37	5	56160578	56160579	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr5:56160578_56160579delCA	ENST00000399503.3	+	4	852_853	c.852_853delCA	c.(850-855)atcacafs	p.T285fs	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	285					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTGGCAGAATCACACCACCCCG	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.852_853delCA	5.37:g.56160580_56160581delCA	ENSP00000382423:p.Thr285fs			Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.P286fs	ENST00000399503.3	37	c.852_853	CCDS43318.1	5																																																																																			MAP3K1	-	NULL	ENSG00000095015		0.455	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	110	0.00	0	CA	XM_042066		56160578	56160579	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_del	66	31.25	30	DEL	1.000:1.000	-
MCCC1	56922	genome.wustl.edu	37	3	182817227	182817228	+	Start_Codon_Ins	INS	-	-	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr3:182817227_182817228insT	ENST00000265594.4	-	0	147_148				MCCC1_ENST00000539926.1_De_novo_Start_OutOfFrame|MCCC1_ENST00000492597.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)						biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	GGCCGCCGCCATGTCCCTGGAG	0.708																																						dbGAP											0																																										-	-	-	SO:0001582	initiator_codon_variant	0			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.2dupA	3.37:g.182817228_182817228dupT			Q59ES4|Q9H959|Q9NS97	Frame_Shift_Ins	INS	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.M1fs	ENST00000265594.4	37	c.2_1	CCDS3241.1	3																																																																																			MCCC1	-	NULL	ENSG00000078070		0.708	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	HGNC	protein_coding	OTTHUMT00000350775.1	12	0.00	0	-	NM_020166		182817227	182817228	-1	no_errors	ENST00000265594	ensembl	human	known	69_37n	frame_shift_ins	5	50.00	5	INS	0.283:0.272	T
MTOR	2475	genome.wustl.edu	37	1	11188177	11188177	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr1:11188177T>A	ENST00000361445.4	-	43	5993	c.5917A>T	c.(5917-5919)Atc>Ttc	p.I1973F	MTOR_ENST00000376838.1_Missense_Mutation_p.I178F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1973	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I1973F(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGTGGGTAGATGAGGGCCTGA	0.463																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											107.0	113.0	111.0					1																	11188177		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5917A>T	1.37:g.11188177T>A	ENSP00000354558:p.Ile1973Phe		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.I1973F	ENST00000361445.4	37	c.5917	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.965107	0.92855	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.80123	-0.27;-1.34	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.81497	2.545	0.80722	D	1	D	0.63046	0.992	P	0.58970	0.849	D	0.90198	0.4255	10	0.87932	D	0	-10.8404	16.1549	0.81657	0.0:0.0:0.0:1.0	.	1973	P42345	MTOR_HUMAN	F	1973;178	ENSP00000354558:I1973F;ENSP00000366034:I178F	ENSP00000354558:I1973F	I	-	1	0	MTOR	11110764	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.466000	0.80914	2.209000	0.71365	0.533000	0.62120	ATC	MTOR	-	pfscan_PIK_FAT	ENSG00000198793		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	225	0.00	0	T	NM_004958		11188177	11188177	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	missense	43	60.55	66	SNP	1.000	A
NEK5	341676	genome.wustl.edu	37	13	52684534	52684534	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr13:52684534T>C	ENST00000355568.4	-	7	548	c.409A>G	c.(409-411)Agc>Ggc	p.S137G		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCGTTCTTGCTAAGAAAAATG	0.358																																						dbGAP											0													144.0	138.0	140.0					13																	52684534		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.409A>G	13.37:g.52684534T>C	ENSP00000347767:p.Ser137Gly		Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S137G	ENST00000355568.4	37	c.409	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723340	0.68959	.	.	ENSG00000197168	ENST00000355568	T	0.24723	1.84	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.259807	0.33572	N	0.004761	T	0.21550	0.0519	L	0.28694	0.88	0.36041	D	0.840111	P	0.39883	0.693	B	0.41666	0.363	T	0.24476	-1.0159	10	0.59425	D	0.04	.	10.1187	0.42607	0.1494:0.0:0.0:0.8506	.	137	Q6P3R8	NEK5_HUMAN	G	137	ENSP00000347767:S137G	ENSP00000347767:S137G	S	-	1	0	NEK5	51582535	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	3.744000	0.55112	1.916000	0.55485	0.383000	0.25322	AGC	NEK5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000197168		0.358	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	417	0.00	0	T	NM_199289		52684534	52684534	-1	no_errors	ENST00000355568	ensembl	human	known	69_37n	missense	72	59.78	107	SNP	1.000	C
PCDHA3	56145	genome.wustl.edu	37	5	140182767	140182767	+	Missense_Mutation	SNP	C	C	T	rs17844261	byFrequency	TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr5:140182767C>T	ENST00000522353.2	+	1	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T662M	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	662	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACCGCCACGGCCACTGTG	0.687													.|||	3	0.000599042	0.0	0.0	5008	,	,		16798	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													56.0	58.0	57.0					5																	140182767		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1985C>T	5.37:g.140182767C>T	ENSP00000429808:p.Thr662Met		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T662M	ENST00000522353.2	37	c.1985	CCDS54915.1	5	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	c	12.31	1.900463	0.33535	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.57107	0.42;0.42	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	0.000000	0.36234	U	0.002705	T	0.76730	0.4028	H	0.95151	3.63	0.27643	N	0.947663	D;D	0.71674	0.998;0.997	P;D	0.64042	0.852;0.921	T	0.73836	-0.3857	10	0.66056	D	0.02	.	10.8066	0.46520	0.0:0.9112:0.0:0.0888	rs17844261	662;662	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	662	ENSP00000429808:T662M;ENSP00000434086:T662M	ENSP00000429808:T662M	T	+	2	0	PCDHA3	140162951	0.997000	0.39634	0.989000	0.46669	0.019000	0.09904	2.469000	0.45110	2.117000	0.64856	0.467000	0.42956	ACG	PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000255408		0.687	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	50	0.00	0	C	NM_018906		140182767	140182767	+1	no_errors	ENST00000522353	ensembl	human	known	69_37n	missense	20	53.49	23	SNP	0.995	T
RBM19	9904	genome.wustl.edu	37	12	114386694	114386694	+	Missense_Mutation	SNP	C	C	A	rs139661395		TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr12:114386694C>A	ENST00000545145.2	-	10	1298	c.1220G>T	c.(1219-1221)cGg>cTg	p.R407L	RBM19_ENST00000261741.5_Missense_Mutation_p.R407L|RBM19_ENST00000392561.3_Missense_Mutation_p.R407L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	407	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGGCAGGTTCCGTACAAAGAG	0.587																																						dbGAP											0													143.0	132.0	135.0					12																	114386694		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1220G>T	12.37:g.114386694C>A	ENSP00000442053:p.Arg407Leu		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.R407L	ENST00000545145.2	37	c.1220	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556300	0.65425	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.06449	3.3;3.3;3.3	4.33	4.33	0.51752	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.057076	0.64402	D	0.000002	T	0.23410	0.0566	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.01301	-1.1391	10	0.45353	T	0.12	-4.6789	16.8285	0.85937	0.0:1.0:0.0:0.0	.	407	Q9Y4C8	RBM19_HUMAN	L	407	ENSP00000442053:R407L;ENSP00000376344:R407L;ENSP00000261741:R407L	ENSP00000261741:R407L	R	-	2	0	RBM19	112871077	0.975000	0.34042	0.254000	0.24359	0.293000	0.27360	7.117000	0.77129	1.974000	0.57490	0.561000	0.74099	CGG	RBM19	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.587	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	161	0.00	0	C	NM_016196		114386694	114386694	-1	no_errors	ENST00000261741	ensembl	human	known	69_37n	missense	164	22.64	48	SNP	0.701	A
SERPINA5	5104	genome.wustl.edu	37	14	95053768	95053768	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr14:95053768C>A	ENST00000554866.1	+	2	183	c.69C>A	c.(67-69)caC>caA	p.H23Q	SERPINA5_ENST00000553780.1_Missense_Mutation_p.H23Q|SERPINA5_ENST00000329597.7_Missense_Mutation_p.H23Q|SERPINA5_ENST00000554276.1_Missense_Mutation_p.H23Q			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	23					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ACCGCCACCACCCCCGGGAGA	0.587																																						dbGAP											0													60.0	66.0	64.0					14																	95053768		2203	4300	6503	-	-	-	SO:0001583	missense	0			M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.69C>A	14.37:g.95053768C>A	ENSP00000451126:p.His23Gln		Q07616|Q9UG30	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.H23Q	ENST00000554866.1	37	c.69	CCDS9928.1	14	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835124	0.32421	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000553511;ENST00000554506;ENST00000554633;ENST00000555681;ENST00000438291;ENST00000554276;ENST00000557598;ENST00000556064	D;D;D;D;D;T;T;T;T;D;T	0.87491	-1.59;-1.59;-2.26;-1.59;-1.59;-0.77;-0.77;-0.77;-0.77;-1.59;-0.77	4.77	0.628	0.17681	Serpin domain (1);	3.512250	0.00871	N	0.002030	T	0.73999	0.3659	N	0.08118	0	0.09310	N	1	P;P	0.49090	0.919;0.868	B;B	0.43052	0.406;0.23	T	0.67952	-0.5537	10	0.12766	T	0.61	.	4.5669	0.12191	0.0:0.4598:0.1658:0.3744	.	23;23	G3V5Q9;P05154	.;IPSP_HUMAN	Q	23	ENSP00000450484:H23Q;ENSP00000450837:H23Q;ENSP00000452469:H23Q;ENSP00000451126:H23Q;ENSP00000333203:H23Q;ENSP00000450745:H23Q;ENSP00000451215:H23Q;ENSP00000451697:H23Q;ENSP00000451650:H23Q;ENSP00000451610:H23Q;ENSP00000450485:H23Q	ENSP00000333203:H23Q	H	+	3	2	SERPINA5	94123521	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.702000	0.05069	0.155000	0.19261	-0.224000	0.12420	CAC	SERPINA5	-	superfamily_Sepin_dom	ENSG00000188488		0.587	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA5	HGNC	protein_coding	OTTHUMT00000410726.1	61	0.00	0	C	NM_000624		95053768	95053768	+1	no_errors	ENST00000329597	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	0.000	A
SOAT1	6646	genome.wustl.edu	37	1	179310278	179310278	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr1:179310278C>T	ENST00000367619.3	+	7	756	c.613C>T	c.(613-615)Cat>Tat	p.H205Y	SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Missense_Mutation_p.H140Y|SOAT1_ENST00000540564.1_Missense_Mutation_p.H147Y	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	205					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCTGTTTCAACATTGGGCCAC	0.443																																						dbGAP											0													223.0	205.0	211.0					1																	179310278		2203	4300	6503	-	-	-	SO:0001583	missense	0			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.613C>T	1.37:g.179310278C>T	ENSP00000356591:p.His205Tyr		A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	pfam_MBOAT_fam	p.H205Y	ENST00000367619.3	37	c.613	CCDS1330.1	1	.	.	.	.	.	.	.	.	.	.	C	0.109	-1.140488	0.01728	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000367619;ENST00000426956	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.96	3.14	0.36123	.	1.034790	0.07507	N	0.908281	T	0.45155	0.1328	N	0.08118	0	0.21290	N	0.99974	B;B	0.09022	0.002;0.002	B;B	0.16722	0.016;0.016	T	0.37934	-0.9684	10	0.02654	T	1	-15.3603	5.4462	0.16537	0.0:0.6207:0.1449:0.2344	.	147;205	A8K3P4;P35610	.;SOAT1_HUMAN	Y	140;147;205;205	ENSP00000441356:H140Y;ENSP00000445315:H147Y;ENSP00000356591:H205Y;ENSP00000411309:H205Y	ENSP00000356591:H205Y	H	+	1	0	SOAT1	177576901	0.000000	0.05858	0.001000	0.08648	0.349000	0.29174	0.775000	0.26689	0.439000	0.26476	-0.137000	0.14449	CAT	SOAT1	-	pfam_MBOAT_fam	ENSG00000057252		0.443	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT1	HGNC	protein_coding	OTTHUMT00000085286.2	318	0.00	0	C	NM_003101		179310278	179310278	+1	no_errors	ENST00000367619	ensembl	human	known	69_37n	missense	163	35.57	90	SNP	0.001	T
SLC35F3	148641	genome.wustl.edu	37	1	234367371	234367371	+	Silent	SNP	C	C	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr1:234367371C>T	ENST00000366617.3	+	2	513	c.285C>T	c.(283-285)gaC>gaT	p.D95D	SLC35F3_ENST00000366618.3_Silent_p.D164D			Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	95					thiamine transport (GO:0015888)	integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GGAAGTTCGACGCGCCCTTCA	0.582																																						dbGAP											0													177.0	153.0	161.0					1																	234367371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1600.1, CCDS73050.1	1q42.3	2013-05-22			ENSG00000183780	ENSG00000183780		"""Solute carriers"""	23616	protein-coding gene	gene with protein product							Standard	XM_005273070		Approved	FLJ37712	uc001hvy.1	Q8IY50	OTTHUMG00000037929	ENST00000366617.3:c.285C>T	1.37:g.234367371C>T			Q5TDD6|Q8N9C9	Silent	SNP	pfam_DMT,pfam_DUF250,pfam_DUF914_euk	p.D164	ENST00000366617.3	37	c.492		1																																																																																			SLC35F3	-	NULL	ENSG00000183780		0.582	SLC35F3-002	KNOWN	basic|appris_candidate	protein_coding	SLC35F3	HGNC	protein_coding	OTTHUMT00000128322.1	70	0.00	0	C	NM_173508		234367371	234367371	+1	no_errors	ENST00000366618	ensembl	human	known	69_37n	silent	53	26.39	19	SNP	0.993	T
STAG1	10274	genome.wustl.edu	37	3	136078054	136078054	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr3:136078054G>A	ENST00000383202.2	-	27	3128	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	STAG1_ENST00000536929.1_Missense_Mutation_p.R542C|STAG1_ENST00000236698.5_Missense_Mutation_p.R958C|STAG1_ENST00000434713.2_Missense_Mutation_p.R698C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	958					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.R958C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGGGCAAAGCGACGTGCCAGT	0.413																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											131.0	119.0	123.0					3																	136078054		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2872C>T	3.37:g.136078054G>A	ENSP00000372689:p.Arg958Cys		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R958C	ENST00000383202.2	37	c.2872	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218062	0.79352	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.57107	1.0;1.06;0.42;0.56	5.81	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.75895	0.3912	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.80286	-0.1446	10	0.87932	D	0	.	14.1034	0.65072	0.0:0.0:0.7429:0.2571	.	958;958	Q6P275;Q8WVM7	.;STAG1_HUMAN	C	958;958;698;542	ENSP00000372689:R958C;ENSP00000236698:R958C;ENSP00000404396:R698C;ENSP00000445787:R542C	ENSP00000236698:R958C	R	-	1	0	STAG1	137560744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.005000	0.57075	2.736000	0.93811	0.655000	0.94253	CGC	STAG1	-	NULL	ENSG00000118007		0.413	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	167	0.00	0	G	NM_005862		136078054	136078054	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	35	65.00	65	SNP	0.998	A
TACSTD2	4070	genome.wustl.edu	37	1	59042071	59042071	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr1:59042071A>C	ENST00000371225.2	-	1	1095	c.758T>G	c.(757-759)gTg>gGg	p.V253G		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	253					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CGTGCGCTCCACCTGCAGGGG	0.642																																						dbGAP											0													16.0	18.0	18.0					1																	59042071		2200	4295	6495	-	-	-	SO:0001583	missense	0			X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.758T>G	1.37:g.59042071A>C	ENSP00000360269:p.Val253Gly		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.V253G	ENST00000371225.2	37	c.758	CCDS609.1	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.037256	0.75617	.	.	ENSG00000184292	ENST00000371225	T	0.79454	-1.27	4.77	4.77	0.60923	.	0.321128	0.33875	N	0.004474	T	0.73845	0.3639	L	0.53249	1.67	0.80722	D	1	P	0.45348	0.856	B	0.41299	0.353	T	0.78420	-0.2211	10	0.87932	D	0	-7.2884	13.024	0.58804	1.0:0.0:0.0:0.0	.	253	P09758	TACD2_HUMAN	G	253	ENSP00000360269:V253G	ENSP00000360269:V253G	V	-	2	0	TACSTD2	58814659	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	6.549000	0.73900	1.992000	0.58205	0.533000	0.62120	GTG	TACSTD2	-	NULL	ENSG00000184292		0.642	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACSTD2	HGNC	protein_coding	OTTHUMT00000027818.1	37	0.00	0	A	NM_002353		59042071	59042071	-1	no_errors	ENST00000371225	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.999	C
TCOF1	6949	genome.wustl.edu	37	5	149773041	149773041	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr5:149773041C>T	ENST00000504761.2	+	23	3707	c.3707C>T	c.(3706-3708)gCc>gTc	p.A1236V	TCOF1_ENST00000513346.1_Missense_Mutation_p.A1236V|TCOF1_ENST00000377797.3_Missense_Mutation_p.A1237V|TCOF1_ENST00000439160.2_Missense_Mutation_p.A1199V|TCOF1_ENST00000445265.2_Missense_Mutation_p.A1160V|TCOF1_ENST00000451292.1_Missense_Mutation_p.A1273V|TCOF1_ENST00000323668.7_Missense_Mutation_p.A1159V			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1236					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTACTCTGGCCGCCAAAGAT	0.552																																						dbGAP											0													78.0	75.0	76.0					5																	149773041		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3707C>T	5.37:g.149773041C>T	ENSP00000421655:p.Ala1236Val		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.A1273V	ENST00000504761.2	37	c.3818	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	C	4.407	0.075253	0.08485	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.43	0.542	0.17174	.	0.549195	0.15399	N	0.264397	T	0.37812	0.1017	L	0.32530	0.975	0.09310	N	1	P;P;P;P;P	0.36909	0.573;0.573;0.573;0.465;0.573	B;B;B;B;B	0.34385	0.181;0.181;0.181;0.168;0.181	T	0.17745	-1.0359	10	0.42905	T	0.14	-0.9856	3.7464	0.08549	0.0:0.5038:0.1854:0.3108	.	1199;1159;1198;1236;1160	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	V	1273;1237;1160;1159;1199;1198;1236;1236	ENSP00000400939:A1273V;ENSP00000367028:A1237V;ENSP00000409944:A1160V;ENSP00000325223:A1159V;ENSP00000406888:A1199V;ENSP00000390717:A1198V;ENSP00000421655:A1236V;ENSP00000427484:A1236V	ENSP00000325223:A1159V	A	+	2	0	TCOF1	149753234	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.343000	0.07791	0.211000	0.20683	0.561000	0.74099	GCC	TCOF1	-	NULL	ENSG00000070814		0.552	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	156	0.00	0	C	NM_001008656		149773041	149773041	+1	no_errors	ENST00000451292	ensembl	human	known	69_37n	missense	83	37.59	50	SNP	0.000	T
TFAM	7019	genome.wustl.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																						dbGAP											0													39.0	47.0	44.0					10																	60148570		2195	4296	6491	-	-	-	SO:0001589	frameshift_variant	0			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs		A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E148fs	ENST00000487519.1	37	c.432	CCDS7253.1	10																																																																																			TFAM	-	superfamily_HMG_superfamily	ENSG00000108064		0.269	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAM	HGNC	protein_coding	OTTHUMT00000048146.1	86	0.00	0	A	NM_003201		60148570	60148570	+1	no_errors	ENST00000487519	ensembl	human	known	69_37n	frame_shift_del	61	10.29	7	DEL	0.006	-
UBE4B	10277	genome.wustl.edu	37	1	10205077	10205077	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr1:10205077C>T	ENST00000253251.8	+	17	2895	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	UBE4B_ENST00000343090.6_Missense_Mutation_p.R815C|UBE4B_ENST00000377157.3_Missense_Mutation_p.R570C					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AATGCTGAAGCGCTGTAAAAC	0.383																																						dbGAP											0													70.0	70.0	70.0					1																	10205077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2056C>T	1.37:g.10205077C>T	ENSP00000253251:p.Arg686Cys			Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R815C	ENST00000253251.8	37	c.2443	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002998	0.93287	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.50548	0.74;0.74;0.74	5.83	5.83	0.93111	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.981;0.981;0.967	T	0.75935	-0.3142	10	0.87932	D	0	-17.962	20.1047	0.97888	0.0:1.0:0.0:0.0	.	686;815;686	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	C	686;570;815	ENSP00000253251:R686C;ENSP00000366362:R570C;ENSP00000343001:R815C	ENSP00000253251:R686C	R	+	1	0	UBE4B	10127664	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.234000	0.58658	2.762000	0.94881	0.655000	0.94253	CGC	UBE4B	-	pfam_Ub_conjug_fac_E4_core	ENSG00000130939		0.383	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	116	0.00	0	C	NM_006048		10205077	10205077	+1	no_errors	ENST00000343090	ensembl	human	known	69_37n	missense	19	66.07	37	SNP	1.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16691307	16691307	+	3'UTR	SNP	T	T	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr17:16691307T>A	ENST00000443444.2	+	0	5580				RP11-92B11.3_ENST00000578710.1_RNA|USP32P1_ENST00000393005.2_RNA|RP11-219A15.4_ENST00000602730.1_RNA|RP11-219A15.1_ENST00000448331.3_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TGTAAGATGATGTCATAAAGC	0.547																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*1156T>A	17.37:g.16691307T>A			O60311|Q6ZU57	RNA	SNP	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-	ENSG00000188933		0.547	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		55	0.00	0	T			16691307	16691307	+1	no_errors	ENST00000393005	ensembl	human	known	69_37n	rna	34	26.09	12	SNP	1.000	A
WASH3P	374666	genome.wustl.edu	37	15	102516165	102516165	+	RNA	SNP	C	C	G			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr15:102516165C>G	ENST00000557932.1	+	0	1253				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GATGTCGGATCTCTTCAACAA	0.587																																						dbGAP											0																																										-	-	-			0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516165C>G				RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	c	4.364	0.067026	0.08388	.	.	ENSG00000185596	ENST00000398121;ENST00000378819	.	.	.	0.906	0.906	0.19314	.	0.188928	0.47455	D	0.000234	T	0.41488	0.1161	.	.	.	0.37172	D	0.903107	.	.	.	.	.	.	T	0.50039	-0.8874	4	.	.	.	-24.1796	7.6988	0.28611	0.0:1.0:0.0:0.0	.	.	.	.	V	410;305	.	.	L	+	1	0	WASH3P	100333688	1.000000	0.71417	0.990000	0.47175	0.357000	0.29423	4.652000	0.61454	0.793000	0.33875	0.184000	0.17185	CTC	WASH3P	-	-	ENSG00000185596		0.587	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	24	0.00	0	C	NM_199163		102516165	102516165	+1	no_errors	ENST00000557932	ensembl	human	known	69_37n	rna	8	20.00	2	SNP	1.000	G
ZNF492	57615	genome.wustl.edu	37	19	22847203	22847203	+	Silent	SNP	G	G	A			TCGA-E2-A15O-01A-11D-A10Y-09	TCGA-E2-A15O-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	39c1df91-b670-4f6b-b5ff-dbb6b66d30af	6fb74fc6-17aa-4a5c-ba62-17a1609eef50	g.chr19:22847203G>A	ENST00000456783.2	+	4	976	c.732G>A	c.(730-732)aaG>aaA	p.K244K	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CTACACATAAGAGAATTCATA	0.393																																						dbGAP											0													2.0	2.0	2.0					19																	22847203		855	2135	2990	-	-	-	SO:0001819	synonymous_variant	0			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.732G>A	19.37:g.22847203G>A			Q08EI7|Q08EI8	Silent	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K244	ENST00000456783.2	37	c.732	CCDS46032.1	19																																																																																			ZNF492	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000229676		0.393	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF492	HGNC	protein_coding	OTTHUMT00000464581.1	24	0.00	0	G	NM_020855		22847203	22847203	+1	no_errors	ENST00000456783	ensembl	human	known	69_37n	silent	20	16.67	4	SNP	0.957	A
