#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_Chromosome_hg18	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_End_position_hg18	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_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
CHIT1	1118	genome.wustl.edu	37	1	203186123	203186123	+	Missense_Mutation	SNP	C	C	T	rs202003206		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr1:203186123C>T	ENST00000367229.1	-	11	1329	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	CHIT1_ENST00000255427.3_Missense_Mutation_p.R413Q|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.R423Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	432	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.R432Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGACCGTTCCCGAGGATTGGG	0.602											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18789	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											98.0	101.0	100.0					1																	203186123		2203	4300	6503	201452746	SO:0001583	missense	0			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1295G>A	1.37:g.203186123C>T	ENSP00000356198:p.Arg432Gln	542	2.16	12	2135	0	0.00	0	201452746	461	44.62	373	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_18,PatternScan_CHITINASE_18,HMMPfam_CBM_14,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain	p.R432Q	ENST00000367229.1	37	c.1295	CCDS1436.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.092	-0.408161	0.04832	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.29655	1.56;1.56;1.56	4.95	-9.9	0.00461	Chitin binding domain (5);	3.388700	0.00868	N	0.001985	T	0.09686	0.0238	N	0.03983	-0.305	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.14924	-1.0455	10	0.13470	T	0.59	-9.276	3.8643	0.09010	0.192:0.5452:0.0924:0.1703	.	403;423;432	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	Q	432;413;423	ENSP00000356198:R432Q;ENSP00000255427:R413Q;ENSP00000438078:R423Q	ENSP00000255427:R413Q	R	-	2	0	CHIT1	201452746	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.461000	0.00463	-2.215000	0.00733	-0.355000	0.07637	CGG	-	HMMPfam_CBM_14,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	protein_coding	OTTHUMT00000100275.2	C	NM_003465		201452746	-1	no_errors	NM_003465.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
STRN	6801	genome.wustl.edu	37	2	37143244	37143244	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr2:37143244A>T	ENST00000263918.4	-	3	397	c.389T>A	c.(388-390)aTg>aAg	p.M130K	STRN_ENST00000379213.2_Missense_Mutation_p.M118K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	130					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.M130K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGAGGCTTCATATCTCCCTG	0.313																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											72.0	65.0	67.0					2																	37143244		2203	4300	6503	36996748	SO:0001583	missense	0			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.389T>A	2.37:g.37143244A>T	ENSP00000263918:p.Met130Lys	706	1.12	8		6	14.29	1	36996748	708	43.23	540	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_Striatin,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.M130K	ENST00000263918.4	37	c.389	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942519	0.34283	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.63580	-0.05;-0.04	5.65	5.65	0.86999	Striatin, N-terminal (1);	0.154030	0.64402	D	0.000001	T	0.32763	0.0840	N	0.02158	-0.66	0.54753	D	0.999983	B;B	0.20988	0.05;0.009	B;B	0.18561	0.022;0.017	T	0.39742	-0.9599	10	0.05620	T	0.96	-17.9997	15.1403	0.72607	1.0:0.0:0.0:0.0	.	118;130	O43815-2;O43815	.;STRN_HUMAN	K	130;105;118	ENSP00000263918:M130K;ENSP00000368513:M118K	ENSP00000263918:M130K	M	-	2	0	STRN	36996748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.526000	0.90588	2.279000	0.76181	0.402000	0.26972	ATG	-	HMMPfam_Striatin		0.313	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	protein_coding	OTTHUMT00000218568.1	A			36996748	-1	no_errors	NM_003162.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
MAP2	4133	genome.wustl.edu	37	2	210559334	210559334	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr2:210559334G>A	ENST00000360351.4	+	7	2946	c.2440G>A	c.(2440-2442)Ggc>Agc	p.G814S	MAP2_ENST00000447185.1_Missense_Mutation_p.G810S|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	814					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.G814S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGATCTGGCAGGCACAAGGTC	0.473																																					Pancreas(27;423 979 28787 29963)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											131.0	131.0	131.0					2																	210559334		2203	4300	6503	210267579	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2440G>A	2.37:g.210559334G>A	ENSP00000353508:p.Gly814Ser	1054	1.86	20		NA	NA	NA	210267579	764	40.42	519	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1	p.G814S	ENST00000360351.4	37	c.2440	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686463	0.88639	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.30714	1.52;1.52	5.7	5.7	0.88788	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000009	T	0.56441	0.1985	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56559	-0.7959	10	0.87932	D	0	-13.9281	19.8212	0.96595	0.0:0.0:1.0:0.0	.	810;814	P11137-3;P11137	.;MAP2_HUMAN	S	814;810	ENSP00000353508:G814S;ENSP00000392164:G810S	ENSP00000353508:G814S	G	+	1	0	MAP2	210267579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.229000	0.95273	2.694000	0.91930	0.650000	0.86243	GGC	-	HMMPfam_MAP2_projctn		0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210267579	+1	no_errors	NM_002374.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NAT8L	339983	genome.wustl.edu	37	4	2065507	2065507	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr4:2065507G>A	ENST00000423729.2	+	3	562	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	NAT8L_ENST00000331662.3_Missense_Mutation_p.V20M	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	188	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)	p.V20M(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGGGTGGCCGTGCTGGATGG	0.667																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											63.0	55.0	58.0					4																	2065507		2203	4299	6502	2035305	SO:0001583	missense	0			AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"""N-acetyltransferase 8-like"""			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.562G>A	4.37:g.2065507G>A	ENSP00000413064:p.Val188Met	68	5.56	4		NA	NA	NA	2035305	57	47.71	52		Missense_Mutation	SNP	HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat)	p.V20M	ENST00000423729.2	37	c.58	CCDS3359.2	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542498	0.85917	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.32515	1.45;1.46	5.54	5.54	0.83059	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.084010	0.47852	U	0.000217	T	0.47192	0.1432	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33189	-0.9878	10	0.44086	T	0.13	-0.0025	19.0909	0.93227	0.0:0.0:1.0:0.0	.	188	Q8N9F0	NAT8L_HUMAN	M	188;20	ENSP00000413064:V188M;ENSP00000328464:V20M	ENSP00000328464:V20M	V	+	1	0	NAT8L	2035305	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.553000	0.67287	2.604000	0.88044	0.450000	0.29827	GTG	-	HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat)		0.667	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8L	protein_coding		G	NM_178557		2035305	+1	no_errors	NM_178557.2	genbank	human	provisional	54_36p	missense	SNP	1.000	A
PCDHB11	56125	genome.wustl.edu	37	5	140580470	140580470	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr5:140580470T>C	ENST00000354757.3	+	1	1123	c.1123T>C	c.(1123-1125)Tct>Cct	p.S375P	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S10P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S375P(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATATAGACTCTGGGGACAA	0.428																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											124.0	122.0	123.0					5																	140580470		2203	4300	6503	140560654	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1123T>C	5.37:g.140580470T>C	ENSP00000346802:p.Ser375Pro	692	1.42	10		NA	NA	NA	140560654	520	42.05	378	B4DSF7|Q2M223	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.S375P	ENST00000354757.3	37	c.1123	CCDS4253.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|T	16.41|16.41	3.115611|3.115611	0.56505|0.56505	.|.	.|.	ENSG00000197479|ENSG00000197479	ENST00000536825|ENST00000536699;ENST00000354757	.|T;T	.|0.53640	.|0.61;4.59	2.52|2.52	1.23|1.23	0.21249|0.21249	.|Cadherin (4);Cadherin-like (1);	.|.	.|.	.|.	.|.	.|T	.|0.75817	.|0.3901	H|H	0.97962|0.97962	4.115|4.115	0.23712|0.23712	N|N	0.997041|0.997041	.|P	.|0.39862	.|0.692	.|P	.|0.58210	.|0.835	.|T	.|0.65957	.|-0.6042	.|9	.|0.87932	.|D	.|0	.|.	8.1517|8.1517	0.31145|0.31145	0.0:0.0:0.2048:0.7952|0.0:0.0:0.2048:0.7952	.|.	.|375	.|Q9Y5F2	.|PCDBB_HUMAN	.|P	-1|10;375	.|ENSP00000440344:S10P;ENSP00000346802:S375P	.|ENSP00000346802:S375P	.|S	+|+	.|1	.|0	PCDHB11|PCDHB11	140560654|140560654	0.056000|0.056000	0.20664|0.20664	0.298000|0.298000	0.25002|0.25002	0.824000|0.824000	0.46624|0.46624	0.981000|0.981000	0.29526|0.29526	0.187000|0.187000	0.20147|0.20147	0.254000|0.254000	0.18369|0.18369	.|TCT	-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.428	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	protein_coding	OTTHUMT00000251813.1	T	NM_018931		140560654	+1	no_errors	NM_018931.2	genbank	human	reviewed	54_36p	missense	SNP	0.965	C
SEMA3A	10371	genome.wustl.edu	37	7	83636712	83636712	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr7:83636712C>G	ENST00000265362.4	-	10	1411	c.1097G>C	c.(1096-1098)tGg>tCg	p.W366S	SEMA3A_ENST00000436949.1_Missense_Mutation_p.W366S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	366	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.W366S(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATAAGGCACCCATTGATAGTT	0.433																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											147.0	128.0	135.0					7																	83636712		2203	4300	6503	83474648	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1097G>C	7.37:g.83636712C>G	ENSP00000265362:p.Trp366Ser	842	2.99	26		NA	NA	NA	83474648	571	45.11	470		Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMSmart_IG,HMMSmart_PSI,HMMPfam_ig,superfamily_Plexin-like_fold,superfamily_SSF48726	p.W366S	ENST00000265362.4	37	c.1097	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730772	0.69074	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.26223	1.75;1.75	4.4	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	10	0.87932	D	0	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	366	Q14563	SEM3A_HUMAN	S	366	ENSP00000265362:W366S;ENSP00000415260:W366S	ENSP00000265362:W366S	W	-	2	0	SEMA3A	83474648	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.050000	0.71063	2.154000	0.67381	0.561000	0.74099	TGG	-	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema		0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	protein_coding	OTTHUMT00000253355.2	C	NM_006080		83474648	-1	no_errors	NM_006080.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
RPL27A	6157	genome.wustl.edu	37	11	8705620	8705620	+	Silent	SNP	C	C	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr11:8705620C>T	ENST00000314138.6	+	3	538	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RPL27A_ENST00000530022.1_5'UTR|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000524496.1_5'UTR|RPL27A_ENST00000530913.1_5'Flank|RPL27A_ENST00000526562.1_5'UTR|RPL27A_ENST00000531978.1_Silent_p.F45F|SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000532359.1_Silent_p.F45F	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	45					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F45F(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGATCAACTTCGACAAATAGT	0.537																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											125.0	117.0	120.0					11																	8705620		2201	4296	6497	8662196	SO:0001819	synonymous_variant	0			U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.135C>T	11.37:g.8705620C>T		684	2.84	20		1	98.21	55	8662196	126	84.95	711	B2R4B3	Silent	SNP	HMMPfam_L15,PatternScan_RIBOSOMAL_L15,superfamily_Ribosomal proteins L15p and L18e	p.F45	ENST00000314138.6	37	c.135	CCDS7790.1	11	.	.	.	.	.	.	.	.	.	.	C	9.332	1.060727	0.19987	.	.	ENSG00000166441	ENST00000525981	.	.	.	5.56	-7.11	0.01542	.	.	.	.	.	T	0.58366	0.2117	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61811	-0.6986	4	.	.	.	-6.286	12.4122	0.55473	0.084:0.2588:0.0:0.6571	.	.	.	.	L	40	.	.	S	+	2	0	RPL27A	8662196	0.005000	0.15991	0.464000	0.27143	0.851000	0.48451	-1.276000	0.02815	-1.757000	0.01316	-0.817000	0.03123	TCG	-	superfamily_Ribosomal proteins L15p and L18e		0.537	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL27A	protein_coding	OTTHUMT00000386506.1	C	NM_000990		8662196	+1	no_errors	NM_000990.4	genbank	human	reviewed	54_36p	silent	SNP	0.790	T
COL2A1	1280	genome.wustl.edu	37	12	48380136	48380136	+	Missense_Mutation	SNP	C	C	A	rs121912880		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr12:48380136C>A	ENST00000380518.3	-	23	1674	c.1510G>T	c.(1510-1512)Ggt>Tgt	p.G504C	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G435C	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	504	Triple-helical region.		G -> C (in SEMDSTWK). {ECO:0000269|PubMed:7550321}.		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G435C(1)|p.G504C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGGGGGACCGATGGGCCCA	0.637																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	12	GRCh37	CM052182|CX952212	COL2A1	M|X	rs121912880						29.0	28.0	29.0					12																	48380136		2191	4286	6477	46666403	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1510G>T	12.37:g.48380136C>A	ENSP00000369889:p.Gly504Cys	317	2.76	9		NA	NA	NA	46666403	222	43.94	174	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen	p.G504C	ENST00000380518.3	37	c.1510	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510546	0.64522	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99637	-6.29;-6.29	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97427	1.0013	10	0.87932	D	0	.	16.9549	0.86256	0.0:1.0:0.0:0.0	.	435;504	P02458-1;P02458	.;CO2A1_HUMAN	C	504;435;435	ENSP00000369889:G504C;ENSP00000338213:G435C	ENSP00000338213:G435C	G	-	1	0	COL2A1	46666403	1.000000	0.71417	0.734000	0.30879	0.316000	0.28119	5.887000	0.69751	2.537000	0.85549	0.561000	0.74099	GGT	-	HMMPfam_Collagen		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	protein_coding	OTTHUMT00000313810.2	C	NM_001844		46666403	-1	no_errors	NM_001844.4	genbank	human	reviewed	54_36p	missense	SNP	0.990	A
SMARCC2	6601	genome.wustl.edu	37	12	56581079	56581079	+	Silent	SNP	A	A	G	rs375920566		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr12:56581079A>G	ENST00000267064.4	-	2	209	c.123T>C	c.(121-123)gcT>gcC	p.A41A	SMARCC2_ENST00000550164.1_Silent_p.A41A|SMARCC2_ENST00000394023.3_Silent_p.A41A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Silent_p.A41A	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	41					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A41A(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGGTGGTTCAGCTTGTATAT	0.438																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12						A	,,	2,4404	4.2+/-10.8	0,2,2201	129.0	132.0	131.0		123,123,123	-0.6	1.0	12		131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SMARCC2	NM_001130420.1,NM_003075.3,NM_139067.2	,,	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	,,	41/1153,41/1215,41/1131	56581079	2,13004	2203	4300	6503	54867346	SO:0001819	synonymous_variant	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.123T>C	12.37:g.56581079A>G		456	3.18	15		62	38.00	38	54867346	454	42.04	330	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	HMMSmart_SM00298,HMMSmart_SM00717,superfamily_BRCT domain,HMMPfam_SWIRM,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding	p.A41	ENST00000267064.4	37	c.123	CCDS8907.1	12																																																																																			-	NULL		0.438	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	protein_coding	OTTHUMT00000408370.1	A			54867346	-1	no_errors	NM_003075.1	genbank	human	reviewed	54_36p	silent	SNP	0.915	G
ELF1	1997	genome.wustl.edu	37	13	41508066	41508066	+	Missense_Mutation	SNP	A	A	G	rs540284464		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr13:41508066A>G	ENST00000239882.3	-	9	1669	c.1355T>C	c.(1354-1356)aTa>aCa	p.I452T	ELF1_ENST00000442101.1_Missense_Mutation_p.I428T|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	452					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I452T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGTGCTGGCTATAACTGTTGT	0.448																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											197.0	180.0	186.0					13																	41508066		2203	4300	6503	40406066	SO:0001583	missense	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1355T>C	13.37:g.41508066A>G	ENSP00000239882:p.Ile452Thr	1404	2.02	29		121	47.41	110	40406066	942	43.19	717	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785	p.I452T	ENST00000239882.3	37	c.1355	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655987	0.47467	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.48522	0.81;0.81	5.44	5.44	0.79542	.	0.106792	0.64402	D	0.000011	T	0.50377	0.1612	L	0.34521	1.04	0.44024	D	0.996746	P;D	0.56035	0.945;0.974	P;P	0.52514	0.625;0.701	T	0.54918	-0.8221	10	0.87932	D	0	.	15.5037	0.75722	1.0:0.0:0.0:0.0	.	428;452	E9PDQ9;P32519	.;ELF1_HUMAN	T	428;194;452	ENSP00000405580:I428T;ENSP00000239882:I452T	ENSP00000239882:I452T	I	-	2	0	ELF1	40406066	1.000000	0.71417	0.942000	0.38095	0.977000	0.68977	7.165000	0.77544	2.053000	0.61076	0.533000	0.62120	ATA	-	NULL		0.448	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	protein_coding	OTTHUMT00000044654.3	A	NM_172373		40406066	-1	no_errors	NM_172373.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
METTL3	56339	genome.wustl.edu	37	14	21979283	21979283	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr14:21979283T>C	ENST00000298717.4	-	1	234	c.83A>G	c.(82-84)cAg>cGg	p.Q28R	METTL3_ENST00000545319.1_5'UTR|METTL3_ENST00000538267.1_Missense_Mutation_p.Q28R	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	28					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.Q28R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CCCCGAGTCCTGCTTCCGCCT	0.647																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											43.0	40.0	41.0					14																	21979283		2203	4300	6503	21049123	SO:0001583	missense	0			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.83A>G	14.37:g.21979283T>C	ENSP00000298717:p.Gln28Arg	414	1.89	8		21	53.33	24	21049123	239	34.16	124	O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	HMMPfam_MT-A70	p.Q28R	ENST00000298717.4	37	c.83	CCDS32044.1	14	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028060	0.75390	.	.	ENSG00000165819	ENST00000298717;ENST00000538267;ENST00000440691	T;T	0.30981	1.51;1.51	5.3	5.3	0.74995	.	0.198578	0.35378	N	0.003244	T	0.20129	0.0484	N	0.14661	0.345	0.40464	D	0.980278	P;P;B	0.46512	0.531;0.879;0.213	B;B;B	0.39660	0.201;0.306;0.049	T	0.05954	-1.0854	10	0.51188	T	0.08	-34.6537	14.369	0.66826	0.0:0.0:0.0:1.0	.	28;28;28	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	R	28	ENSP00000298717:Q28R;ENSP00000442316:Q28R	ENSP00000298717:Q28R	Q	-	2	0	METTL3	21049123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.427000	0.59888	2.226000	0.72624	0.533000	0.62120	CAG	-	NULL		0.647	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	protein_coding	OTTHUMT00000401227.1	T	NM_019852		21049123	-1	no_errors	NM_019852.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DYNC1H1	1778	genome.wustl.edu	37	14	102453065	102453065	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr14:102453065C>T	ENST00000360184.4	+	8	2667	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	835	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R835C(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATATGTACAGCGCTTAGCAGA	0.483																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											104.0	95.0	98.0					14																	102453065		2203	4300	6503	101522818	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2503C>T	14.37:g.102453065C>T	ENSP00000348965:p.Arg835Cys	1623	1.69	28		28	41.67	20	101522818	1212	35.44	666	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540	p.R835C	ENST00000360184.4	37	c.2503	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237846	0.79800	.	.	ENSG00000197102	ENST00000360184	T	0.31769	1.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	P	0.56216	0.794	T	0.55173	-0.8182	10	0.66056	D	0.02	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	835	Q14204	DYHC1_HUMAN	C	835	ENSP00000348965:R835C	ENSP00000348965:R835C	R	+	1	0	DYNC1H1	101522818	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.771000	0.68881	2.767000	0.95098	0.655000	0.94253	CGC	-	NULL		0.483	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376		101522818	+1	no_errors	NM_001376.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KDM8	79831	genome.wustl.edu	37	16	27221818	27221818	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr16:27221818T>G	ENST00000286096.4	+	2	547	c.374T>G	c.(373-375)aTg>aGg	p.M125R	KDM8_ENST00000441782.2_Missense_Mutation_p.M163R|KDM8_ENST00000568965.1_Missense_Mutation_p.M125R|KDM8_ENST00000380948.2_Missense_Mutation_p.M125R|CTD-3203P2.1_ENST00000567108.1_RNA	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	125					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)	p.M125R(1)|p.M163R(1)									GTCTGTGACATGGGCCTGCTG	0.647																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											27.0	30.0	29.0					16																	27221818		2197	4300	6497	27129319	SO:0001583	missense	0			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"""Chromatin-modifying enzymes / K-demethylases"""	25840	protein-coding gene	gene with protein product		611917	"""jumonji domain containing 5"""	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.374T>G	16.37:g.27221818T>G	ENSP00000286096:p.Met125Arg	382	2.05	8		5	16.67	1	27129319	251	41.30	178	B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	HMMSmart_SM00558,superfamily_Clavaminate synthase-like	p.M125R	ENST00000286096.4	37	c.374	CCDS10627.1	16	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415590	0.62511	.	.	ENSG00000155666	ENST00000380948;ENST00000286096;ENST00000441782	T;T	0.25579	1.83;1.79	5.62	5.62	0.85841	.	0.034361	0.85682	D	0.000000	T	0.50086	0.1595	M	0.82323	2.585	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.966	P;P;P	0.61201	0.885;0.885;0.543	T	0.50931	-0.8769	10	0.31617	T	0.26	-38.3461	14.6624	0.68882	0.0:0.0:0.0:1.0	.	163;125;125	Q8N371-3;Q8N371-2;Q8N371	.;.;KDM8_HUMAN	R	125;125;163	ENSP00000286096:M125R;ENSP00000398410:M163R	ENSP00000286096:M125R	M	+	2	0	JMJD5	27129319	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.593000	0.82686	2.137000	0.66172	0.459000	0.35465	ATG	-	NULL		0.647	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD5	protein_coding	OTTHUMT00000254580.3	T	NM_024773		27129319	+1	no_errors	NM_024773.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
NANOS2	339345	genome.wustl.edu	37	19	46417670	46417670	+	Silent	SNP	C	C	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr19:46417670C>T	ENST00000341294.2	-	1	366	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	94					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)	p.R94R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		ACACGTAGTGCCTCAGGATGG	0.642																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	19											72.0	63.0	66.0					19																	46417670		2203	4300	6503	51109510	SO:0001819	synonymous_variant	0			BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.282G>A	19.37:g.46417670C>T		812	2.75	23		NA	NA	NA	51109510	339	46.37	294	Q17R30|Q4G0P8	Silent	SNP	HMMPfam_zf-nanos	p.R94	ENST00000341294.2	37	c.282	CCDS33056.1	19																																																																																			-	HMMPfam_zf-nanos		0.642	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOS2	protein_coding	OTTHUMT00000461685.1	C			51109510	-1	no_errors	NM_001029861.2	genbank	human	validated	54_36p	silent	SNP	0.998	T
RUNX1	861	genome.wustl.edu	37	21	36252917	36252917	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr21:36252917C>G	ENST00000344691.4	-	2	1941	c.364G>C	c.(364-366)Gca>Cca	p.A122P	RUNX1_ENST00000358356.5_Missense_Mutation_p.A122P|RUNX1_ENST00000437180.1_Missense_Mutation_p.A149P|RUNX1_ENST00000399240.1_Missense_Mutation_p.A122P|RUNX1_ENST00000486278.2_Missense_Mutation_p.A125P|RUNX1_ENST00000325074.5_Missense_Mutation_p.A137P|RUNX1_ENST00000300305.3_Missense_Mutation_p.A149P	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	122	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A149fs*2(3)|p.A149P(1)|p.A149T(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TTCATGGCTGCGGTAGCATTT	0.478			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	5	Insertion - Frameshift(3)|Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(5)	21											107.0	94.0	98.0					21																	36252917		2203	4300	6503	35174787	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.364G>C	21.37:g.36252917C>G	ENSP00000340690:p.Ala122Pro	761	2.05	16		346	48.66	328	35174787	450	40.78	312	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.A149P	ENST00000344691.4	37	c.445	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.372209	0.95923	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99574	-6.2;-6.2;-6.2;-6.2;-6.2;-6.2;-6.2;-6.2;-6.2	5.31	5.31	0.75309	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99701	0.9886	M	0.90082	3.085	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.992;0.981;0.999;1.0;1.0;1.0	D	0.97729	1.0201	10	0.87932	D	0	-22.9205	19.3355	0.94316	0.0:1.0:0.0:0.0	.	149;122;122;125;149;137;122	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	P	122;149;149;137;122;125;122;137;125;136	ENSP00000340690:A122P;ENSP00000300305:A149P;ENSP00000409227:A149P;ENSP00000319459:A137P;ENSP00000382184:A122P;ENSP00000351123:A122P;ENSP00000382182:A137P;ENSP00000438019:A125P;ENSP00000388189:A136P	ENSP00000300305:A149P	A	-	1	0	RUNX1	35174787	1.000000	0.71417	0.592000	0.28758	0.939000	0.58152	5.732000	0.68563	2.652000	0.90054	0.655000	0.94253	GCA	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.478	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	C			35174787	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	0.988	G
