#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AOX1	316	genome.wustl.edu	37	2	201467067	201467070	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	AAGT	AAGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr2:201467067_201467070delAAGT	ENST00000374700.2	+	6	738_739	c.497_498delAAGT	c.(496-498)aaa>a	p.K166fs		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	166					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTTTCTGTAAAGTAAGTGGAAAG	0.456																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.498+1AAGT>-	2.37:g.201467071_201467074delAAGT		Somatic		WXS	Illumina GAIIx	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Frame_Shift_Del	DEL	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.K166fs	ENST00000374700.2	37	c.497_498	CCDS33360.1	2																																																																																			AOX1	-	superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.456	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	91	0.00	0	AAGT	NM_001159	Frame_Shift_Del	201467067	201467070	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	frame_shift_del	39	17.02	8	DEL	1.000:0.998	-
ATPAF1	64756	genome.wustl.edu	37	1	47119504	47119504	+	Silent	SNP	G	G	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr1:47119504G>A	ENST00000371937.4	-	5	629	c.525C>T	c.(523-525)gtC>gtT	p.V175V	ATPAF1_ENST00000329231.4_Silent_p.V198V|ATPAF1_ENST00000574428.1_Silent_p.V175V|ATPAF1_ENST00000532925.1_Silent_p.V87V|ATPAF1_ENST00000542495.1_Silent_p.V24V|ATPAF1_ENST00000576409.1_Silent_p.V198V	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	175					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TAACTGCGTAGACTGTATCTT	0.403																																					Melanoma(138;107 1777 21672 30337 52312)	dbGAP											0													144.0	129.0	134.0					1																	47119504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.525C>T	1.37:g.47119504G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Silent	SNP	pfam_ATP11	p.V198	ENST00000371937.4	37	c.594		1																																																																																			ATPAF1	-	pfam_ATP11	ENSG00000123472		0.403	ATPAF1-201	KNOWN	basic	protein_coding	ATPAF1	HGNC	protein_coding		88	0.00	0	G	NM_022745		47119504	47119504	-1	no_errors	ENST00000576409	ensembl	human	known	69_37n	silent	64	22.89	19	SNP	1.000	A
CENPK	64105	genome.wustl.edu	37	5	64814460	64814460	+	Splice_Site	SNP	T	T	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr5:64814460T>A	ENST00000396679.1	-	11	866	c.652A>T	c.(652-654)Att>Ttt	p.I218F	CENPK_ENST00000514814.1_Splice_Site_p.I218F|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000510693.1_Splice_Site_p.I155F|CENPK_ENST00000242872.3_Splice_Site_p.I218F|CENPK_ENST00000508421.1_Splice_Site_p.I188F	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	218					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		TTTATAAGAATCTAGGAGAAA	0.303																																						dbGAP											0													40.0	42.0	41.0					5																	64814460		2201	4300	6501	-	-	-	SO:0001630	splice_region_variant	0			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.652-1A>T	5.37:g.64814460T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4L0	Missense_Mutation	SNP	pfam_Centromere_CenpK,superfamily_Prefoldin	p.I218F	ENST00000396679.1	37	c.652	CCDS3984.1	5	.	.	.	.	.	.	.	.	.	.	T	19.14	3.770471	0.69992	.	.	ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693	.	.	.	5.77	4.6	0.57074	.	0.559462	0.19921	N	0.103095	T	0.56062	0.1960	L	0.53249	1.67	0.47547	D	0.999457	P	0.43542	0.81	B	0.44224	0.444	T	0.58126	-0.7691	9	0.45353	T	0.12	-3.5304	11.9499	0.52948	0.0:0.0686:0.0:0.9314	.	218	Q9BS16	CENPK_HUMAN	F	218;218;218;188;155	.	ENSP00000242872:I218F	I	-	1	0	CENPK	64850216	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.590000	0.36654	2.197000	0.70478	0.455000	0.32223	ATT	CENPK	-	pfam_Centromere_CenpK	ENSG00000123219		0.303	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPK	HGNC	protein_coding	OTTHUMT00000253971.2	48	0.00	0	T	NM_022145	Missense_Mutation	64814460	64814460	-1	no_errors	ENST00000242872	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	A
CORO2A	7464	genome.wustl.edu	37	9	100888910	100888910	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr9:100888910T>G	ENST00000343933.5	-	11	1624	c.1367A>C	c.(1366-1368)cAc>cCc	p.H456P	CORO2A_ENST00000375077.4_Missense_Mutation_p.H456P	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	456					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTCCAGCCTGTGTTCTGCTGC	0.547																																						dbGAP											0													146.0	150.0	149.0					9																	100888910		2203	4300	6503	-	-	-	SO:0001583	missense	0			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.1367A>C	9.37:g.100888910T>G	ENSP00000343746:p.His456Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TBR5|Q92829|Q9BWS5	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H456P	ENST00000343933.5	37	c.1367	CCDS6735.1	9	.	.	.	.	.	.	.	.	.	.	T	8.432	0.848740	0.17034	.	.	ENSG00000106789	ENST00000343933;ENST00000375077	T;T	0.71698	-0.59;-0.59	5.42	1.83	0.25207	.	1.103140	0.06999	N	0.823008	T	0.59307	0.2184	L	0.38175	1.15	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42732	-0.9434	10	0.29301	T	0.29	-9.7266	7.4863	0.27435	0.0:0.2522:0.0:0.7478	.	456;456	Q92828;A8K9S3	COR2A_HUMAN;.	P	456	ENSP00000343746:H456P;ENSP00000364218:H456P	ENSP00000343746:H456P	H	-	2	0	CORO2A	99928731	0.001000	0.12720	0.079000	0.20413	0.083000	0.17756	0.160000	0.16462	0.362000	0.24319	-0.441000	0.05720	CAC	CORO2A	-	NULL	ENSG00000106789		0.547	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO2A	HGNC	protein_coding	OTTHUMT00000053357.1	74	0.00	0	T	NM_003389		100888910	100888910	-1	no_errors	ENST00000343933	ensembl	human	known	69_37n	missense	45	16.67	9	SNP	0.002	G
CREBBP	1387	genome.wustl.edu	37	16	3827658	3827658	+	Splice_Site	SNP	T	T	C			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr16:3827658T>C	ENST00000262367.5	-	11	2923	c.2114A>G	c.(2113-2115)aAt>aGt	p.N705S	CREBBP_ENST00000382070.3_Splice_Site_p.N667S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	705					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CAGGGGTCCATCTATGGTGGC	0.348			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													74.0	72.0	72.0					16																	3827658		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.2114-1A>G	16.37:g.3827658T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.N705S	ENST00000262367.5	37	c.2114	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	T	10.44	1.350175	0.24512	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.84146	-1.81;-1.75	4.68	4.68	0.58851	.	0.064068	0.64402	D	0.000006	D	0.84924	0.5580	M	0.71036	2.16	0.80722	D	1	P;P	0.49185	0.904;0.92	B;B	0.42738	0.396;0.351	D	0.87028	0.2133	10	0.56958	D	0.05	.	14.5738	0.68232	0.0:0.0:0.0:1.0	.	735;705	Q4LE28;Q92793	.;CBP_HUMAN	S	705;735;667	ENSP00000262367:N705S;ENSP00000371502:N667S	ENSP00000262367:N705S	N	-	2	0	CREBBP	3767659	1.000000	0.71417	0.998000	0.56505	0.345000	0.29048	6.799000	0.75160	2.094000	0.63399	0.260000	0.18958	AAT	CREBBP	-	NULL	ENSG00000005339		0.348	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	43	0.00	0	T	NM_004380	Missense_Mutation	3827658	3827658	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	missense	30	30.23	13	SNP	1.000	C
EPS8L2	64787	genome.wustl.edu	37	11	722123	722125	+	In_Frame_Del	DEL	CGC	CGC	-	rs140568715|rs529495486	byFrequency	TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	CGC	CGC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr11:722123_722125delCGC	ENST00000533256.1	+	13	1392_1394	c.1017_1019delCGC	c.(1015-1020)agcgcc>agc	p.A341del	EPS8L2_ENST00000318562.8_In_Frame_Del_p.A341del|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_In_Frame_Del_p.A341del|EPS8L2_ENST00000526198.1_In_Frame_Del_p.A357del			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	341					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	actin binding (GO:0003779)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACCCCAGCGCCGCGGAGCTC	0.719																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106			21296	protein-coding gene	gene with protein product		614988				12620401	Standard	NM_022772		Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1017_1019delCGC	11.37:g.722126_722128delCGC	ENSP00000435585:p.Ala341del	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSX1|B7ZKL3|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	In_Frame_Del	DEL	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_PTyr_interaction_dom,pfscan_SH3_domain	p.A341in_frame_del	ENST00000533256.1	37	c.1017_1019	CCDS31328.1	11																																																																																			EPS8L2	-	NULL	ENSG00000177106		0.719	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	EPS8L2	HGNC	protein_coding	OTTHUMT00000382344.1	17	0.00	0	CGC	NM_022772		722123	722125	+1	no_errors	ENST00000318562	ensembl	human	known	69_37n	in_frame_del	11	15.38	2	DEL	0.999:1.000:0.998	-
FAM86B1	85002	genome.wustl.edu	37	8	12044262	12044262	+	Silent	SNP	G	G	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr8:12044262G>A	ENST00000448228.2	-	4	370	c.321C>T	c.(319-321)gcC>gcT	p.A107A	FAM86B1_ENST00000533513.1_Silent_p.A141A|FAM86B1_ENST00000321602.8_Missense_Mutation_p.P2L|FAM86B1_ENST00000533852.2_Silent_p.A141A|FAM86B1_ENST00000534520.1_Silent_p.A107A	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	107										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		GGTAGAGGGCGGCATCCCATG	0.612																																						dbGAP											0													1.0	1.0	1.0					8																	12044262		473	1093	1566	-	-	-	SO:0001819	synonymous_variant	0			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.321C>T	8.37:g.12044262G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P2L	ENST00000448228.2	37	c.5	CCDS59512.1	8	.	.	.	.	.	.	.	.	.	.	-	0.003	-2.469420	0.00169	.	.	ENSG00000186523	ENST00000321602;ENST00000526802	T	0.30714	1.52	1.17	-0.949	0.10376	.	.	.	.	.	T	0.19604	0.0471	.	.	.	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08166	-1.0735	8	0.87932	D	0	.	2.4515	0.04519	0.3509:0.0:0.425:0.2241	.	2;39	F6QN85;Q4KMP3	.;.	L	2;103	ENSP00000439686:P2L	ENSP00000439686:P2L	P	-	2	0	FAM86B1	12081671	0.000000	0.05858	0.092000	0.20876	0.049000	0.14656	-3.087000	0.00610	-0.554000	0.06150	-1.169000	0.01745	CCG	FAM86B1	-	NULL	ENSG00000186523		0.612	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	10	0.00	0	G	NM_032916		12044262	12044262	-1	no_errors	ENST00000321602	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	0.966	A
HS6ST1	9394	genome.wustl.edu	37	2	129025860	129025860	+	Missense_Mutation	SNP	C	C	T	rs147436494		TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr2:129025860C>T	ENST00000259241.6	-	2	1125	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	371					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCTCCTCAGGCGCTGCTCCCT	0.677																																						dbGAP											0													32.0	41.0	38.0					2																	129025860		2097	4251	6348	-	-	-	SO:0001583	missense	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.1112G>A	2.37:g.129025860C>T	ENSP00000259241:p.Arg371His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R371H	ENST00000259241.6	37	c.1112	CCDS42748.1	2	591	0.2706043956043956	87	0.17682926829268292	106	0.292817679558011	168	0.2937062937062937	230	0.3034300791556728	C	28.0	4.883726	0.91814	.	.	ENSG00000136720	ENST00000259241	D	0.85339	-1.97	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.00039	0.0001	M	0.74647	2.275	0.09310	P	0.99999999795479	D	0.76494	0.999	D	0.76071	0.987	T	0.00000	-1.3594	8	.	.	.	-12.2845	17.1367	0.86742	0.0:1.0:0.0:0.0	.	371	O60243	H6ST1_HUMAN	H	371	ENSP00000259241:R371H	.	R	-	2	0	HS6ST1	128742330	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.243000	0.78219	2.099000	0.63709	0.462000	0.41574	CGC	HS6ST1	-	NULL	ENSG00000136720		0.677	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	14	0.00	0	C	NM_004807		129025860	129025860	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	1.000	T
HS6ST1	9394	genome.wustl.edu	37	2	129075961	129075961	+	Silent	SNP	T	T	C	rs61732881	byFrequency	TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr2:129075961T>C	ENST00000259241.6	-	1	190	c.177A>G	c.(175-177)acA>acG	p.T59T	HS6ST1_ENST00000494089.1_5'UTR	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	59					angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GGGGGTCGGGTGTGGGGAACA	0.667													C|||	3623	0.723442	0.8971	0.7839	5008	,	,		8563	0.8304		0.6044	False		,,,				2504	0.4581					dbGAP											0													7.0	15.0	12.0					2																	129075961		1621	3941	5562	-	-	-	SO:0001819	synonymous_variant	0			AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.177A>G	2.37:g.129075961T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Silent	SNP	pfam_Sulfotransferase	p.T59	ENST00000259241.6	37	c.177	CCDS42748.1	2																																																																																			HS6ST1	-	NULL	ENSG00000136720		0.667	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS6ST1	HGNC	protein_coding	OTTHUMT00000331572.1	12	0.00	0	T	NM_004807		129075961	129075961	-1	no_errors	ENST00000259241	ensembl	human	known	69_37n	silent	6	53.85	7	SNP	1.000	C
NWD2	57495	genome.wustl.edu	37	4	37446047	37446047	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr4:37446047C>A	ENST00000309447.5	+	7	3285	c.2437C>A	c.(2437-2439)Cag>Aag	p.Q813K		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		813										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						GGCTCCAGACCAGCCCTGGGT	0.488																																						dbGAP											0													42.0	34.0	36.0					4																	37446047		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000309447.5:c.2437C>A	4.37:g.37446047C>A	ENSP00000309501:p.Gln813Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.Q813K	ENST00000309447.5	37	c.2437	CCDS47040.1	4	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910732	0.72983	.	.	ENSG00000174145	ENST00000309447	D	0.87887	-2.31	6.05	6.05	0.98169	.	0.123210	0.56097	D	0.000028	D	0.93058	0.7790	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.91958	0.5576	10	0.49607	T	0.09	.	20.1963	0.98243	0.0:1.0:0.0:0.0	.	813	Q9ULI1	K1239_HUMAN	K	813	ENSP00000309501:Q813K	ENSP00000309501:Q813K	Q	+	1	0	KIAA1239	37122442	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.463000	0.80869	2.878000	0.98634	0.650000	0.86243	CAG	KIAA1239	-	NULL	ENSG00000174145		0.488	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	27	0.00	0	C			37446047	37446047	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	missense	15	53.12	17	SNP	1.000	A
KRT31	3881	genome.wustl.edu	37	17	39551243	39551243	+	Silent	SNP	G	G	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr17:39551243G>T	ENST00000251645.2	-	6	1006	c.954C>A	c.(952-954)atC>atA	p.I318I		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	318	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCACGTTGGTGATCAGGCTCT	0.612																																						dbGAP											0													76.0	72.0	73.0					17																	39551243		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.954C>A	17.37:g.39551243G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UE12	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.I318	ENST00000251645.2	37	c.954	CCDS11391.1	17																																																																																			KRT31	-	pfam_F,prints_Keratin_I	ENSG00000094796		0.612	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	110	0.00	0	G	NM_002277		39551243	39551243	-1	no_errors	ENST00000251645	ensembl	human	known	69_37n	silent	99	46.77	87	SNP	0.997	T
LPPR2	64748	genome.wustl.edu	37	19	11475316	11475316	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr19:11475316C>T	ENST00000591608.1	+	10	1498	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	DKFZP761J1410_ENST00000251473.5_3'UTR																							CCCCTTCCACCGGGACAACTT	0.662																																						dbGAP											0													88.0	88.0	88.0					19																	11475316		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000591608.1:c.1234C>T	19.37:g.11475316C>T	ENSP00000466898:p.Arg412Trp	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.R412W	ENST00000591608.1	37	c.1234	CCDS59352.1	19																																																																																			LPPR2	-	NULL	ENSG00000105520		0.662	DKFZP761J1410-002	KNOWN	basic|CCDS	protein_coding	LPPR2	Clone_based_vega_gene	protein_coding	OTTHUMT00000458784.1	42	0.00	0	C			11475316	11475316	+1	no_errors	ENST00000591608	ensembl	human	known	69_37n	missense	15	19.05	4	SNP	1.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56177035	56177035	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr5:56177035C>T	ENST00000399503.3	+	13	2305	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	769					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)		GTTGGAATTTCCTGCTGAATT	0.338																																						dbGAP											0													167.0	149.0	154.0					5																	56177035		1837	4081	5918	-	-	-	SO:0001583	missense	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.2305C>T	5.37:g.56177035C>T	ENSP00000382423:p.Pro769Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	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.P769S	ENST00000399503.3	37	c.2305	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441867	0.43326	.	.	ENSG00000095015	ENST00000399503	T	0.63580	-0.05	5.87	5.01	0.66863	.	0.056664	0.64402	D	0.000001	T	0.58278	0.2111	L	0.56769	1.78	0.80722	D	1	P	0.38020	0.615	B	0.33121	0.158	T	0.63778	-0.6560	10	0.62326	D	0.03	.	15.5374	0.76013	0.0:0.9336:0.0:0.0664	.	769	Q13233	M3K1_HUMAN	S	769	ENSP00000382423:P769S	ENSP00000382423:P769S	P	+	1	0	MAP3K1	56212792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.407000	0.73280	1.626000	0.50381	0.655000	0.94253	CCT	MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.338	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	139	0.00	0	C	XM_042066		56177035	56177035	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	missense	81	15.62	15	SNP	1.000	T
MCAM	4162	genome.wustl.edu	37	11	119185262	119185262	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr11:119185262C>T	ENST00000264036.4	-	5	510	c.496G>A	c.(496-498)Ggg>Agg	p.G166R	MCAM_ENST00000530144.2_5'Flank|MCAM_ENST00000392814.1_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	166	Ig-like V-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGGGGTACCCGTTCCTCCCT	0.597																																						dbGAP											0													85.0	79.0	81.0					11																	119185262		2199	4295	6494	-	-	-	SO:0001583	missense	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.496G>A	11.37:g.119185262C>T	ENSP00000264036:p.Gly166Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O95812|Q59E86|Q6PHR3|Q6ZTR2	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G166R	ENST00000264036.4	37	c.496	CCDS31690.1	11	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455718	0.63401	.	.	ENSG00000076706	ENST00000264036	D	0.81908	-1.55	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89853	0.6835	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90342	0.4360	9	0.87932	D	0	-33.9512	9.9436	0.41596	0.0:0.9033:0.0:0.0967	.	166	P43121	MUC18_HUMAN	R	166	ENSP00000264036:G166R	ENSP00000264036:G166R	G	-	1	0	MCAM	118690472	0.452000	0.25713	0.943000	0.38184	0.218000	0.24690	0.859000	0.27858	2.625000	0.88918	0.561000	0.74099	GGG	MCAM	-	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000076706		0.597	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2	29	0.00	0	C			119185262	119185262	-1	no_errors	ENST00000264036	ensembl	human	known	69_37n	missense	12	50.00	12	SNP	0.981	T
MOCOS	55034	genome.wustl.edu	37	18	33785062	33785062	+	Silent	SNP	G	G	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr18:33785062G>A	ENST00000261326.5	+	6	1062	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATATAAAGCAGCACACCTTCA	0.413																																						dbGAP											0													92.0	85.0	88.0					18																	33785062		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1041G>A	18.37:g.33785062G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.Q347	ENST00000261326.5	37	c.1041	CCDS11919.1	18																																																																																			MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000075643		0.413	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	50	0.00	0	G			33785062	33785062	+1	no_errors	ENST00000261326	ensembl	human	known	69_37n	silent	34	24.44	11	SNP	0.656	A
MRPS7	51081	genome.wustl.edu	37	17	73259535	73259536	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr17:73259535_73259536delTG	ENST00000245539.6	+	4	681_682	c.454_455delTG	c.(454-456)tgtfs	p.C152fs	GGA3_ENST00000538886.1_5'Flank|GGA3_ENST00000245541.6_5'Flank|GGA3_ENST00000578348.1_5'Flank|MRPS7_ENST00000579761.1_Frame_Shift_Del_p.C152fs|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000582717.1_5'Flank|MRPS7_ENST00000579002.1_Frame_Shift_Del_p.C181fs|GGA3_ENST00000351904.7_5'Flank|GGA3_ENST00000582486.1_5'Flank|GGA3_ENST00000537686.1_5'Flank	NM_015971.3	NP_057055.2	Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	152					translation (GO:0006412)	cytosolic small ribosomal subunit (GO:0022627)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACTGAAAAACTGTGAGCCTATG	0.52																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB051348	CCDS11718.1	17q25.1	2012-09-13				ENSG00000125445		"""Mitochondrial ribosomal proteins / small subunits"""	14499	protein-coding gene	gene with protein product		611974					Standard	NM_015971		Approved	MRP-S, RP-S7, RPMS7	uc002jnm.4	Q9Y2R9		ENST00000245539.6:c.454_455delTG	17.37:g.73259537_73259538delTG	ENSP00000245539:p.Cys152fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9N5|Q53GD6	Frame_Shift_Del	DEL	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom	p.C152fs	ENST00000245539.6	37	c.454_455	CCDS11718.1	17																																																																																			MRPS7	-	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom	ENSG00000125445		0.520	MRPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS7	HGNC	protein_coding	OTTHUMT00000446666.1	67	0.00	0	TG	NM_015971		73259535	73259536	+1	no_errors	ENST00000245539	ensembl	human	known	69_37n	frame_shift_del	47	21.31	13	DEL	1.000:1.000	-
MUC4	4585	genome.wustl.edu	37	3	195506940	195506940	+	Missense_Mutation	SNP	G	G	C	rs201483428	byFrequency	TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr3:195506940G>C	ENST00000463781.3	-	2	11970	c.11511C>G	c.(11509-11511)caC>caG	p.H3837Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H3837Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.587													.|||	209	0.0417332	0.1059	0.0346	5008	,	,		8776	0.006		0.0368	False		,,,				2504	0.002					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11511C>G	3.37:g.195506940G>C	ENSP00000417498:p.His3837Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.H3837Q	ENST00000463781.3	37	c.11511	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	3.250	-0.153373	0.06585	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.54;1.49	.	.	.	.	.	.	.	.	T	0.15782	0.0380	N	0.19112	0.55	0.09310	N	1	B	0.18610	0.029	B	0.04013	0.001	T	0.28933	-1.0028	7	.	.	.	.	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	rs2911269	3709	E7ESK3	.	Q	3837	ENSP00000417498:H3837Q;ENSP00000420243:H3837Q	.	H	-	3	2	MUC4	196991719	0.000000	0.05858	0.116000	0.21606	0.116000	0.19942	-1.654000	0.01984	0.064000	0.16427	0.064000	0.15345	CAC	MUC4	-	NULL	ENSG00000145113		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	36	0.00	0	G	NM_018406		195506940	195506940	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	40	11.11	5	SNP	0.197	C
MXRA5	25878	genome.wustl.edu	37	X	3242907	3242907	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chrX:3242907C>A	ENST00000217939.6	-	5	973	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	273	LRRCT.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCAGACAAGTCATGTCCTTCA	0.468																																						dbGAP											0													90.0	83.0	85.0					X																	3242907		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.819G>T	X.37:g.3242907C>A	ENSP00000217939:p.Met273Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,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.M273I	ENST00000217939.6	37	c.819	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.470490	0.00011	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.60920	0.15	3.41	-5.96	0.02234	Cysteine-rich flanking region, C-terminal (1);	0.951547	0.08553	N	0.928646	T	0.20251	0.0487	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	10	0.02654	T	1	.	6.9466	0.24522	0.4671:0.3364:0.1966:0.0	.	273	Q9NR99	MXRA5_HUMAN	I	273	ENSP00000217939:M273I	ENSP00000217939:M273I	M	-	3	0	MXRA5	3252907	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.020000	0.03618	-1.603000	0.01597	-1.730000	0.00700	ATG	MXRA5	-	smart_Cys-rich_flank_reg_C	ENSG00000101825		0.468	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	70	0.00	0	C	NM_015419		3242907	3242907	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.000	A
NFIB	4781	genome.wustl.edu	37	9	14307139	14307139	+	Silent	SNP	C	C	G			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr9:14307139C>G	ENST00000380959.3	-	2	884	c.411G>C	c.(409-411)ctG>ctC	p.L137L	NFIB_ENST00000380934.4_Silent_p.L163L|NFIB_ENST00000380953.1_Silent_p.L137L|NFIB_ENST00000397575.3_Silent_p.L137L|NFIB_ENST00000397581.2_Silent_p.L137L|NFIB_ENST00000397579.2_Silent_p.L137L|NFIB_ENST00000380921.3_Silent_p.L137L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	137					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TGCCTTTGAACAGGATCACCA	0.507			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	dbGAP		Dom	yes		9	9p24.1	4781	nuclear factor I/B		E	0													125.0	126.0	126.0					9																	14307139		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.411G>C	9.37:g.14307139C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Silent	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.L137	ENST00000380959.3	37	c.411	CCDS6474.1	9																																																																																			NFIB	-	pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	ENSG00000147862		0.507	NFIB-001	KNOWN	basic|CCDS	protein_coding	NFIB	HGNC	protein_coding	OTTHUMT00000055468.1	85	0.00	0	C	NM_005596		14307139	14307139	-1	no_errors	ENST00000397581	ensembl	human	known	69_37n	silent	42	16.00	8	SNP	1.000	G
PHKA2	5256	genome.wustl.edu	37	X	18911702	18911702	+	Missense_Mutation	SNP	G	G	T	rs141588752		TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chrX:18911702G>T	ENST00000379942.4	-	33	4274	c.3609C>A	c.(3607-3609)agC>agA	p.S1203R	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1203					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CACTCGGAGCGCTGTCATAAA	0.517																																						dbGAP											0													184.0	179.0	181.0					X																	18911702		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3609C>A	X.37:g.18911702G>T	ENSP00000369274:p.Ser1203Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.S1203R	ENST00000379942.4	37	c.3609	CCDS14190.1	X	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936710	0.52972	.	.	ENSG00000044446	ENST00000379942	T	0.79352	-1.26	6.07	-6.27	0.02026	.	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.88450	2.955	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.88474	0.3064	10	0.87932	D	0	-15.7945	17.9403	0.89024	0.3762:0.0:0.6238:0.0	.	1203	P46019	KPB2_HUMAN	R	1203	ENSP00000369274:S1203R	ENSP00000369274:S1203R	S	-	3	2	PHKA2	18821623	0.034000	0.19679	0.620000	0.29132	0.300000	0.27592	-0.540000	0.06106	-1.173000	0.02758	-0.296000	0.09543	AGC	PHKA2	-	NULL	ENSG00000044446		0.517	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	86	0.00	0	G	NM_000292		18911702	18911702	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	0.755	T
PTPRZ1	5803	genome.wustl.edu	37	7	121659196	121659196	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr7:121659196A>G	ENST00000393386.2	+	13	5273	c.4862A>G	c.(4861-4863)cAt>cGt	p.H1621R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.H761R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1621					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AATAGTAGCCATGAGTCTCGT	0.418																																						dbGAP											0													151.0	136.0	141.0					7																	121659196		2203	4299	6502	-	-	-	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4862A>G	7.37:g.121659196A>G	ENSP00000377047:p.His1621Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.H1621R	ENST00000393386.2	37	c.4862	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704668	0.68615	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.75938	0.85;-0.98	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.79816	0.4511	M	0.66939	2.045	0.47949	D	0.999559	D;P;D	0.67145	0.98;0.645;0.996	P;B;P	0.56216	0.773;0.196;0.794	T	0.79713	-0.1688	10	0.40728	T	0.16	.	11.1688	0.48558	0.8623:0.0:0.0:0.1377	.	760;761;1621	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	R	1621;761	ENSP00000377047:H1621R;ENSP00000410000:H761R	ENSP00000377047:H1621R	H	+	2	0	PTPRZ1	121446432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.452000	0.73485	2.053000	0.61076	0.477000	0.44152	CAT	PTPRZ1	-	NULL	ENSG00000106278		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	138	0.00	0	A	NM_002851		121659196	121659196	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	missense	78	13.33	12	SNP	1.000	G
LINC01410	103352539	genome.wustl.edu	37	9	66458151	66458151	+	lincRNA	DEL	G	G	-	rs540325937	byFrequency	TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr9:66458151delG	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							Aaaagcctacggtaccgctat	0.622																																						dbGAP											0																																										-	-	-			0																															9.37:g.66458151delG		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RNA5SP283	-	-	ENSG00000202474		0.622	RP11-262H14.1-001	KNOWN	basic	lincRNA	RNA5SP283	HGNC	lincRNA	OTTHUMT00000128851.1	15	0.00	0	G			66458151	66458151	-1	no_errors	ENST00000365604	ensembl	human	known	69_37n	rna	3	40.00	2	DEL	0.033	-
SEPHS1	22929	genome.wustl.edu	37	10	13378339	13378339	+	Silent	SNP	C	C	T	rs201414633		TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr10:13378339C>T	ENST00000327347.5	-	4	684	c.309G>A	c.(307-309)gcG>gcA	p.A103A	SEPHS1_ENST00000545675.1_Silent_p.A103A|SEPHS1_ENST00000494329.1_5'Flank|SEPHS1_ENST00000378614.4_Silent_p.A103A|SEPHS1_ENST00000537130.1_Silent_p.A36A	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	103					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CATTGGCACACGCTATCCTGC	0.507																																						dbGAP											0													77.0	62.0	67.0					10																	13378339		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.309G>A	10.37:g.13378339C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_AIR_synth_C,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	p.A103	ENST00000327347.5	37	c.309	CCDS7098.1	10																																																																																			SEPHS1	-	pfam_AIR_synth,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD	ENSG00000086475		0.507	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPHS1	HGNC	protein_coding	OTTHUMT00000046856.1	59	0.00	0	C	NM_012247		13378339	13378339	-1	no_errors	ENST00000327347	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.756	T
SF3B2	10992	genome.wustl.edu	37	11	65826508	65826508	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr11:65826508G>A	ENST00000322535.6	+	10	1223	c.1174G>A	c.(1174-1176)Gct>Act	p.A392T	SF3B2_ENST00000528302.1_Missense_Mutation_p.A375T	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	392					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GATCTTTGAGGCTTTTAAGGT	0.483																																						dbGAP											0													69.0	70.0	70.0					11																	65826508		2201	4295	6496	-	-	-	SO:0001583	missense	0			U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1174G>A	11.37:g.65826508G>A	ENSP00000318861:p.Ala392Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd	p.A392T	ENST00000322535.6	37	c.1174	CCDS31612.1	11	.	.	.	.	.	.	.	.	.	.	G	25.0	4.587692	0.86851	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456;ENST00000530322	.	.	.	5.45	5.45	0.79879	.	0.054186	0.64402	D	0.000001	T	0.54565	0.1866	L	0.54323	1.7	0.80722	D	1	P	0.46064	0.872	B	0.40165	0.321	T	0.57470	-0.7806	9	0.40728	T	0.16	-11.6744	16.7843	0.85570	0.0:0.0:1.0:0.0	.	392	Q13435	SF3B2_HUMAN	T	375;392;296;386	.	ENSP00000318861:A392T	A	+	1	0	SF3B2	65583084	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	8.780000	0.91799	2.571000	0.86741	0.561000	0.74099	GCT	SF3B2	-	NULL	ENSG00000087365		0.483	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B2	HGNC	protein_coding	OTTHUMT00000391352.2	52	0.00	0	G			65826508	65826508	+1	no_errors	ENST00000322535	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	A
SLC41A3	54946	genome.wustl.edu	37	3	125727702	125727702	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr3:125727702C>T	ENST00000315891.6	-	10	1365	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q	SLC41A3_ENST00000360370.4_Missense_Mutation_p.R376Q|SLC41A3_ENST00000508835.1_Missense_Mutation_p.R259Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.R340Q|SLC41A3_ENST00000383598.2_Missense_Mutation_p.R350Q	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	376						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GAGCAGGACTCGAGCTGACAT	0.498																																						dbGAP											0													99.0	89.0	92.0					3																	125727702		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.1127G>A	3.37:g.125727702C>T	ENSP00000326070:p.Arg376Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr,superfamily_Acyl_Trfase/lysoPLipase	p.R376Q	ENST00000315891.6	37	c.1127	CCDS33843.1	3	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656807	0.67586	.	.	ENSG00000114544	ENST00000360370;ENST00000346785;ENST00000383598;ENST00000458524;ENST00000315891;ENST00000508835	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	4.89	4.89	0.63831	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	L	0.58302	1.8	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.989;0.996;0.993;0.996;0.98	T	0.43653	-0.9378	10	0.34782	T	0.22	-11.5881	15.5159	0.75826	0.0:1.0:0.0:0.0	.	259;376;340;376;350	B7Z4Y2;E7ENY4;Q96GZ6-3;Q96GZ6;Q96GZ6-7	.;.;.;S41A3_HUMAN;.	Q	376;340;350;367;376;259	ENSP00000353533:R376Q;ENSP00000264471:R340Q;ENSP00000373092:R350Q;ENSP00000326070:R376Q;ENSP00000427409:R259Q	ENSP00000326070:R376Q	R	-	2	0	SLC41A3	127210392	1.000000	0.71417	0.998000	0.56505	0.887000	0.51463	2.535000	0.45685	2.256000	0.74724	0.591000	0.81541	CGA	SLC41A3	-	pfam_MgtE_Mg_transptr_membr	ENSG00000114544		0.498	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	SLC41A3	HGNC	protein_coding	OTTHUMT00000370886.1	28	0.00	0	C	NM_017836		125727702	125727702	-1	no_errors	ENST00000315891	ensembl	human	known	69_37n	missense	11	52.17	12	SNP	1.000	T
SLC7A8	23428	genome.wustl.edu	37	14	23609736	23609736	+	Silent	SNP	G	G	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr14:23609736G>T	ENST00000316902.7	-	5	1457	c.732C>A	c.(730-732)gcC>gcA	p.A244A	SLC7A8_ENST00000529705.2_Silent_p.A139A|SLC7A8_ENST00000422941.2_Intron|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000469263.1_Silent_p.A244A|SLC7A8_ENST00000453702.1_Silent_p.A41A	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	244					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AGCCTCCATAGGCAAAGGAGC	0.512																																						dbGAP											0													164.0	164.0	164.0					14																	23609736		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.732C>A	14.37:g.23609736G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	pfam_AA-permease_dom	p.P123H	ENST00000316902.7	37	c.368	CCDS9590.1	14																																																																																			SLC7A8	-	pfam_AA-permease_dom	ENSG00000092068		0.512	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A8	HGNC	protein_coding	OTTHUMT00000071718.3	59	0.00	0	G			23609736	23609736	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000339733	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr17:7577609C>T	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGAGCCAACCTAGGAGATAA	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	GRCh37	CS011061	TP53	S							89.0	75.0	80.0					17																	7577609		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-1G>A	17.37:g.7577609C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6-1	ENST00000269305.4	37	c.673-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808655	0.70797	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.	TP53	-	-	ENSG00000141510		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	63	0.00	0	C	NM_000546	Intron	7577609	7577609	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	17	50.00	17	SNP	1.000	T
TRIB2	28951	genome.wustl.edu	37	2	12880637	12880637	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr2:12880637G>A	ENST00000155926.4	+	3	2168	c.749G>A	c.(748-750)gGg>gAg	p.G250E	TRIB2_ENST00000381465.2_Missense_Mutation_p.G114E	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGTTGGTGGGGCGGTACCCT	0.577																																						dbGAP											0													105.0	75.0	85.0					2																	12880637		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.749G>A	2.37:g.12880637G>A	ENSP00000155926:p.Gly250Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G250E	ENST00000155926.4	37	c.749	CCDS1683.1	2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422289	0.83559	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	D;D	0.82081	-1.57;-1.57	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97070	0.9777	10	0.87932	D	0	-16.3064	19.354	0.94404	0.0:0.0:1.0:0.0	.	250	Q92519	TRIB2_HUMAN	E	250;114	ENSP00000155926:G250E;ENSP00000370874:G114E	ENSP00000155926:G250E	G	+	2	0	TRIB2	12798088	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GGG	TRIB2	-	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	ENSG00000071575		0.577	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2	40	0.00	0	G	NM_021643		12880637	12880637	+1	no_errors	ENST00000155926	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	A
TSPAN12	23554	genome.wustl.edu	37	7	120446741	120446741	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr7:120446741C>A	ENST00000222747.3	-	7	1081	c.474G>T	c.(472-474)aaG>aaT	p.K158N	TSPAN12_ENST00000415871.1_Missense_Mutation_p.K158N	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	158					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTCCACAGCACTTAAACTGCA	0.373																																						dbGAP											0													64.0	60.0	61.0					7																	120446741		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.474G>T	7.37:g.120446741C>A	ENSP00000222747:p.Lys158Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.K158N	ENST00000222747.3	37	c.474	CCDS5777.1	7	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184780	0.57909	.	.	ENSG00000106025	ENST00000222747;ENST00000415871	T;T	0.80123	-1.34;-1.34	5.83	3.1	0.35709	Tetraspanin, EC2 domain (1);	0.045571	0.85682	D	0.000000	D	0.83774	0.5327	L	0.47716	1.5	0.48395	D	0.999644	D	0.69078	0.997	D	0.72625	0.978	T	0.80384	-0.1405	10	0.39692	T	0.17	-30.5263	9.9748	0.41777	0.0:0.7101:0.0:0.2899	.	158	O95859	TSN12_HUMAN	N	158	ENSP00000222747:K158N;ENSP00000397699:K158N	ENSP00000222747:K158N	K	-	3	2	TSPAN12	120233977	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	0.265000	0.18515	0.407000	0.25591	-0.136000	0.14681	AAG	TSPAN12	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000106025		0.373	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN12	HGNC	protein_coding	OTTHUMT00000346951.1	47	0.00	0	C	NM_012338		120446741	120446741	-1	no_errors	ENST00000222747	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	168102346	168102346	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr2:168102346G>T	ENST00000409195.1	+	9	4533	c.4444G>T	c.(4444-4446)Gtg>Ttg	p.V1482L	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V1260L|XIRP2_ENST00000295237.9_Missense_Mutation_p.V1482L	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1307					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCAGGAAGATGTGCAGAAAGG	0.378																																						dbGAP											0													106.0	96.0	99.0					2																	168102346		1965	4155	6120	-	-	-	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4444G>T	2.37:g.168102346G>T	ENSP00000386840:p.Val1482Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.V1482L	ENST00000409195.1	37	c.4444	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434872	0.25813	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02837	4.14;4.14;4.14	5.56	-0.256	0.12984	.	0.348813	0.29493	N	0.011985	T	0.02848	0.0085	L	0.55481	1.735	0.40720	D	0.982657	B;B;B	0.28350	0.062;0.103;0.208	B;B;B	0.26770	0.017;0.037;0.073	T	0.49744	-0.8907	10	0.30854	T	0.27	-0.1191	5.5032	0.16840	0.3869:0.0:0.4806:0.1325	.	1307;1307;1260	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	1482;1482;1260	ENSP00000386840:V1482L;ENSP00000295237:V1482L;ENSP00000387255:V1260L	ENSP00000295237:V1482L	V	+	1	0	XIRP2	167810592	0.420000	0.25457	0.912000	0.35992	0.964000	0.63967	1.358000	0.34102	0.210000	0.20664	0.563000	0.77884	GTG	XIRP2	-	NULL	ENSG00000163092		0.378	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	40	0.00	0	G	NM_152381		168102346	168102346	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.656	T
TTN	7273	genome.wustl.edu	37	2	179469435	179469435	+	Splice_Site	SNP	C	C	G			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr2:179469435C>G	ENST00000591111.1	-	231	49682	c.49458G>C	c.(49456-49458)ggG>ggC	p.G16486G	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.G9187G|TTN_ENST00000460472.2_Splice_Site_p.G9062G|TTN_ENST00000589042.1_Splice_Site_p.G18127G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.G9254G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.G15559G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16486	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAGTTTACCCCATATCTTT	0.343																																						dbGAP											0													103.0	99.0	100.0					2																	179469435		1853	4091	5944	-	-	-	SO:0001630	splice_region_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49458+1G>C	2.37:g.179469435C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G15559	ENST00000591111.1	37	c.46677		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	85	0.00	0	C	NM_133378	Silent	179469435	179469435	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	53	29.33	22	SNP	1.000	G
ZBTB38	253461	genome.wustl.edu	37	3	141161656	141161656	+	Silent	SNP	A	A	C			TCGA-A2-A1G1-01A-21D-A13L-09	TCGA-A2-A1G1-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	afe70076-1044-4fdd-bebc-14a97b1a8363	24968a8a-5969-4b98-9d06-f286f771fb53	g.chr3:141161656A>C	ENST00000514251.1	+	4	705	c.426A>C	c.(424-426)ggA>ggC	p.G142G	ZBTB38_ENST00000441582.2_Silent_p.G142G|ZBTB38_ENST00000321464.5_Silent_p.G143G					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTGAAAAGGGAGTGGTTAAAG	0.398																																						dbGAP											0													64.0	60.0	61.0					3																	141161656		1837	4088	5925	-	-	-	SO:0001819	synonymous_variant	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.426A>C	3.37:g.141161656A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G143	ENST00000514251.1	37	c.429	CCDS43157.1	3																																																																																			ZBTB38	-	NULL	ENSG00000177311		0.398	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	47	0.00	0	A			141161656	141161656	+1	no_errors	ENST00000321464	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	0.000	C
