#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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
PLXNA3	55558	genome.wustl.edu	37	X	153691781	153691781	+	Silent	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chrX:153691781C>T	ENST00000369682.3	+	5	1540	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	455	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.P455P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACAGTCCCCGTGGTGGATG	0.632																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											123.0	106.0	112.0					X																	153691781		2203	4300	6503	153344975	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1365C>T	X.37:g.153691781C>T		Somatic	93	3.12	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	153344975	23	80.00	92	Q5HY36	Silent	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_IPT,HMMSmart_PSI,superfamily_Rho_GAP,HMMPfam_Plexin_cytopl,superfamily_Ig_E-set,superfamily_Plexin-like_fold	p.P455	ENST00000369682.3	37	c.1365	CCDS14752.1	X																																																																																			-	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153344975	+1	no_errors	NM_017514.3	genbank	human	validated	54_36p	silent	SNP	0.183	T
ZNF687	57592	genome.wustl.edu	37	1	151259855	151259855	+	Missense_Mutation	SNP	C	C	G	rs199776443		TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr1:151259855C>G	ENST00000368879.2	+	2	1186	c.1088C>G	c.(1087-1089)gCc>gGc	p.A363G		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A363G(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGGGGGCCTTCTTGGCT	0.552																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											66.0	60.0	62.0					1																	151259855		2203	4300	6503	149526479	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1088C>G	1.37:g.151259855C>G	ENSP00000357874:p.Ala363Gly	Somatic	235	4.08	10		31	53.03	35	WXS	Illumina HiSeq	Phase_IV	149526479	231	43.10	175	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A363G	ENST00000368879.2	37	c.1088		1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241292	0.22711	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.93	5.17	4.25	0.50352	.	0.795267	0.10193	N	0.704364	T	0.00271	0.0008	N	0.13098	0.295	0.27372	N	0.955673	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.003	T	0.38779	-0.9645	9	.	.	.	.	8.0447	0.30542	0.2778:0.5635:0.1587:0.0	.	363;363;363	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	G	363	ENSP00000336620:A363G;ENSP00000319829:A363G;ENSP00000357874:A363G	.	A	+	2	0	ZNF687	149526479	0.001000	0.12720	0.903000	0.35520	0.945000	0.59286	1.085000	0.30840	1.411000	0.46957	0.561000	0.74099	GCC	-	NULL		0.552	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	protein_coding		C	NM_020832		149526479	+1	no_errors	NM_020832.1	genbank	human	provisional	54_36p	missense	SNP	0.478	G
DDR2	4921	genome.wustl.edu	37	1	162725552	162725552	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr1:162725552G>A	ENST00000367922.3	+	8	1102	c.664G>A	c.(664-666)Gga>Aga	p.G222R	DDR2_ENST00000367921.3_Missense_Mutation_p.G222R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	222					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G222R(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TGGAGCTGTTGGATACAGGTA	0.393																																					NSCLC(161;314 2006 8283 19651 23192)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											121.0	118.0	119.0					1																	162725552		2203	4300	6503	160992176	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.664G>A	1.37:g.162725552G>A	ENSP00000356899:p.Gly222Arg	Somatic	283	1.74	5		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	160992176	198	36.13	112	Q7Z730	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,PatternScan_PROTEIN_KINASE_TYR,superfamily_Gal_bind_like,superfamily_Kinase_like	p.G222R	ENST00000367922.3	37	c.664	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571558	0.65765	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.21361	2.01;2.01	5.81	5.81	0.92471	.	0.217067	0.48286	D	0.000187	T	0.14399	0.0348	L	0.54323	1.7	0.36390	D	0.862434	B	0.02656	0.0	B	0.01281	0.0	T	0.01972	-1.1237	9	0.44086	T	0.13	.	18.6534	0.91439	0.0:0.0:1.0:0.0	.	222	Q16832	DDR2_HUMAN	R	222	ENSP00000356899:G222R;ENSP00000356898:G222R	ENSP00000356898:G222R	G	+	1	0	DDR2	160992176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.789000	0.69029	2.741000	0.93983	0.650000	0.86243	GGA	-	NULL		0.393	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	G	NM_006182		160992176	+1	no_errors	NM_001014796.1	genbank	human	reviewed	54_36p	missense	SNP	0.972	A
CAPG	822	genome.wustl.edu	37	2	85628972	85628972	+	Silent	SNP	C	C	G	rs138976851	byFrequency	TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr2:85628972C>G	ENST00000409921.1	-	3	198	c.132G>C	c.(130-132)tcG>tcC	p.S44S	CAPG_ENST00000409670.1_Silent_p.S44S|CAPG_ENST00000409724.1_Silent_p.S44S|CAPG_ENST00000263867.4_Silent_p.S44S|CAPG_ENST00000483659.1_5'Flank			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S44S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGGAGTCCCCCGAGAAGAAGA	0.607																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											116.0	113.0	114.0					2																	85628972		2203	4300	6503	85482483	SO:0001819	synonymous_variant	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.132G>C	2.37:g.85628972C>G		Somatic	246	5.02	13		3	80.00	12	WXS	Illumina HiSeq	Phase_IV	85482483	171	40.00	114	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins	p.S44	ENST00000409921.1	37	c.132	CCDS58715.1	2																																																																																			-	HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins		0.607	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	protein_coding	OTTHUMT00000329383.1	C	NM_001747		85482483	-1	no_errors	NM_001747.2	genbank	human	reviewed	54_36p	silent	SNP	0.472	G
SULT1C2	6819	genome.wustl.edu	37	2	108917366	108917366	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr2:108917366C>T	ENST00000437390.2	+	4	569	c.392C>T	c.(391-393)cCg>cTg	p.P131L	SULT1C2_ENST00000251481.6_Missense_Mutation_p.P117L|SULT1C2_ENST00000326853.5_Missense_Mutation_p.P128L|SULT1C2_ENST00000409880.1_Intron			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	123					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P117L(1)|p.P128L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTGCTGCCACCGTCTTTCTGG	0.488																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	2											152.0	166.0	161.0					2																	108917366		2203	4300	6503	108283798	SO:0001583	missense	0			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.392C>T	2.37:g.108917366C>T	ENSP00000399651:p.Pro131Leu	Somatic	334	3.74	13		3	57.14	4	WXS	Illumina HiSeq	Phase_IV	108283798	290	38.03	178	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P128L	ENST00000437390.2	37	c.383		2	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060934	0.36373	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000437390	D;D;D	0.82344	-1.6;-1.6;-1.6	4.31	3.42	0.39159	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000007	D	0.85635	0.5742	M	0.71920	2.185	0.33269	D	0.560782	P;D;P;P	0.65815	0.916;0.995;0.916;0.939	B;P;B;B	0.51657	0.222;0.676;0.222;0.213	D	0.89839	0.4001	10	0.66056	D	0.02	.	12.5731	0.56349	0.1674:0.8326:0.0:0.0	.	131;32;117;128	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	L	117;128;131	ENSP00000251481:P117L;ENSP00000319622:P128L;ENSP00000399651:P131L	ENSP00000251481:P117L	P	+	2	0	SULT1C2	108283798	0.000000	0.05858	0.263000	0.24496	0.772000	0.43724	0.468000	0.22051	0.995000	0.38917	0.591000	0.81541	CCG	-	HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.488	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	protein_coding	OTTHUMT00000329969.2	C	NM_176825		108283798	+1	no_errors	NM_176825.3	genbank	human	reviewed	54_36p	missense	SNP	0.728	T
PTPRN	5798	genome.wustl.edu	37	2	220166388	220166388	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr2:220166388G>A	ENST00000295718.2	-	7	1288	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	PTPRN_ENST00000409251.3_Missense_Mutation_p.R350C|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.R260C	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	350					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R350C(2)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCAGCTGACGCAGCTCTACC	0.622																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	2											39.0	40.0	39.0					2																	220166388		2203	4300	6503	219874632	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1048C>T	2.37:g.220166388G>A	ENSP00000295718:p.Arg350Cys	Somatic	274	4.53	13		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	219874632	355	42.09	258	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.R350C	ENST00000295718.2	37	c.1048	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854688	0.51376	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.25414	1.8;1.8;1.8	4.69	3.74	0.42951	.	0.919524	0.09028	N	0.859106	T	0.21186	0.0510	N	0.19112	0.55	0.43841	D	0.996422	D;D	0.67145	0.991;0.996	B;B	0.43623	0.328;0.425	T	0.17228	-1.0376	10	0.87932	D	0	.	13.2505	0.60050	0.0:0.0:0.8307:0.1693	.	350;350	Q6NSL1;Q16849	.;PTPRN_HUMAN	C	350;350;350;260	ENSP00000386638:R350C;ENSP00000295718:R350C;ENSP00000444244:R260C	ENSP00000295718:R350C	R	-	1	0	PTPRN	219874632	0.998000	0.40836	0.998000	0.56505	0.461000	0.32589	4.405000	0.59741	2.421000	0.82119	0.561000	0.74099	CGT	-	NULL		0.622	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	G			219874632	-1	no_errors	NM_002846.2	genbank	human	reviewed	54_36p	missense	SNP	0.966	A
TRPC1	7220	genome.wustl.edu	37	3	142503880	142503880	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr3:142503880T>C	ENST00000476941.1	+	7	1781	c.1295T>C	c.(1294-1296)aTt>aCt	p.I432T	TRPC1_ENST00000273482.6_Missense_Mutation_p.I398T	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	432					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.I398T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTGTGGATTATTGGTAAGTAT	0.343																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											47.0	49.0	48.0					3																	142503880		2199	4300	6499	143986570	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1295T>C	3.37:g.142503880T>C	ENSP00000419313:p.Ile432Thr	Somatic	91	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	143986570	80	41.61	57	Q14CE4	Missense_Mutation	SNP	HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2	p.I398T	ENST00000476941.1	37	c.1193	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089614	0.76756	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.98633	-5.04;-5.04	5.68	5.68	0.88126	Ion transport (1);	0.087723	0.85682	D	0.000000	D	0.97028	0.9029	L	0.45285	1.41	0.80722	D	1	P;B	0.35208	0.49;0.34	B;B	0.36959	0.212;0.237	D	0.96947	0.9692	10	0.36615	T	0.2	-3.7424	15.9332	0.79683	0.0:0.0:0.0:1.0	.	432;398	P48995;P48995-2	TRPC1_HUMAN;.	T	432;398	ENSP00000419313:I432T;ENSP00000273482:I398T	ENSP00000273482:I398T	I	+	2	0	TRPC1	143986570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.662000	0.83803	2.164000	0.68074	0.477000	0.44152	ATT	-	NULL		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	protein_coding	OTTHUMT00000354520.1	T	NM_003304		143986570	+1	no_errors	NM_003304.4	genbank	human	validated	54_36p	missense	SNP	1.000	C
TET2	54790	genome.wustl.edu	37	4	106193892	106193892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr4:106193892C>T	ENST00000540549.1	+	10	5214	c.4354C>T	c.(4354-4356)Cga>Tga	p.R1452*	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Nonsense_Mutation_p.R1452*|TET2_ENST00000513237.1_Nonsense_Mutation_p.R1473*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1452					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R1452*(7)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCTTTTCGGCGAAAAGTCAG	0.483			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	7	Substitution - Nonsense(7)	haematopoietic_and_lymphoid_tissue(7)	4											139.0	131.0	133.0					4																	106193892		692	1591	2283	106413341	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4354C>T	4.37:g.106193892C>T	ENSP00000442788:p.Arg1452*	Somatic	191	3.03	6		38	39.68	25	WXS	Illumina HiSeq	Phase_IV	106413341	249	38.82	158	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.R254*	ENST00000540549.1	37	c.760	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	48	14.764615	0.99809	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.23	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.009	13.0569	0.58986	0.3017:0.6983:0.0:0.0	.	.	.	.	X	1452;1473;1452	.	ENSP00000369351:R1452X	R	+	1	2	TET2	106413341	0.939000	0.31865	0.347000	0.25668	0.507000	0.33981	1.979000	0.40608	1.513000	0.48852	0.655000	0.94253	CGA	-	NULL		0.483	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106413341	+1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	nonsense	SNP	0.839	T
TRAM1L1	133022	genome.wustl.edu	37	4	118006248	118006248	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr4:118006248A>T	ENST00000310754.4	-	1	488	c.302T>A	c.(301-303)gTg>gAg	p.V101E		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	101					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V101E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTTATCCAACACATATTCCTG	0.368																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											85.0	76.0	79.0					4																	118006248		2203	4300	6503	118225696	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.302T>A	4.37:g.118006248A>T	ENSP00000309402:p.Val101Glu	Somatic	113	1.74	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	118225696	187	42.11	136	Q8N2L7	Missense_Mutation	SNP	HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC,HMMPfam_TRAM1	p.V101E	ENST00000310754.4	37	c.302	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	15.92	2.976057	0.53720	.	.	ENSG00000174599	ENST00000310754	T	0.53857	0.6	4.29	4.29	0.51040	TRAM1-like protein (1);	0.062819	0.64402	D	0.000005	T	0.70307	0.3209	M	0.77313	2.365	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	T	0.74691	-0.3580	10	0.87932	D	0	-6.0031	12.0381	0.53438	1.0:0.0:0.0:0.0	.	101	Q8N609	TR1L1_HUMAN	E	101	ENSP00000309402:V101E	ENSP00000309402:V101E	V	-	2	0	TRAM1L1	118225696	1.000000	0.71417	0.801000	0.32222	0.088000	0.18126	8.114000	0.89570	2.152000	0.67230	0.533000	0.62120	GTG	-	HMMPfam_TRAM1		0.368	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	protein_coding	OTTHUMT00000256513.1	A	NM_152402		118225696	-1	no_errors	NM_152402.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
MIER3	166968	genome.wustl.edu	37	5	56224656	56224656	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr5:56224656G>C	ENST00000381199.3	-	10	872	c.862C>G	c.(862-864)Cga>Gga	p.R288G	MIER3_ENST00000409421.1_Missense_Mutation_p.R225G|CTD-2310F14.1_ENST00000606813.1_RNA|MIER3_ENST00000381213.3_Missense_Mutation_p.R287G|MIER3_ENST00000381226.3_Missense_Mutation_p.R293G			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	288	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R287G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCAAAGCTTCGGCATTCTTCT	0.318																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											82.0	81.0	81.0					5																	56224656		2203	4299	6502	56260413	SO:0001583	missense	0			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.862C>G	5.37:g.56224656G>C	ENSP00000370596:p.Arg288Gly	Somatic	258	2.64	7		13	48.00	12	WXS	Illumina HiSeq	Phase_IV	56260413	182	32.34	87	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	HMMPfam_ELM2,HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding,PatternScan_EF_HAND_1	p.R287G	ENST00000381199.3	37	c.859		5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032791	0.75504	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.64	4.69	0.59074	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.148612	0.64402	D	0.000017	T	0.40645	0.1125	M	0.82923	2.615	0.47737	D	0.999502	P;P;B	0.48998	0.918;0.897;0.252	P;P;B	0.44477	0.451;0.451;0.229	T	0.49093	-0.8975	10	0.87932	D	0	-0.4052	11.2264	0.48886	0.0:0.0:0.5983:0.4017	.	288;293;287	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	G	293;287;288;225	ENSP00000370624:R293G;ENSP00000370611:R287G;ENSP00000370596:R288G;ENSP00000386584:R225G	ENSP00000370596:R288G	R	-	1	2	MIER3	56260413	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.365000	0.52335	2.647000	0.89833	0.467000	0.42956	CGA	-	HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding		0.318	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	protein_coding	OTTHUMT00000132523.2	G	NM_152622		56260413	-1	no_errors	NM_152622.3	genbank	human	validated	54_36p	missense	SNP	1.000	C
MAP1B	4131	genome.wustl.edu	37	5	71491958	71491958	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr5:71491958T>C	ENST00000296755.7	+	5	3074	c.2776T>C	c.(2776-2778)Ttt>Ctt	p.F926L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	926					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.F926L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTGAAAAATTTGAAGATGA	0.507																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											52.0	58.0	56.0					5																	71491958		2203	4300	6503	71527714	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2776T>C	5.37:g.71491958T>C	ENSP00000296755:p.Phe926Leu	Somatic	464	3.52	17		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	71527714	471	42.41	349	A2BDK5	Missense_Mutation	SNP	HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN	p.F926L	ENST00000296755.7	37	c.2776	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336893	0.41398	.	.	ENSG00000131711	ENST00000296755	T	0.03242	4.0	5.6	5.6	0.85130	.	0.189671	0.37761	N	0.001956	T	0.04770	0.0129	L	0.43923	1.385	0.58432	D	0.999991	B;B	0.18968	0.032;0.032	B;B	0.22152	0.038;0.023	T	0.36890	-0.9729	10	0.09590	T	0.72	-8.5011	15.7834	0.78281	0.0:0.0:0.0:1.0	.	800;926	A2BDK6;P46821	.;MAP1B_HUMAN	L	926	ENSP00000296755:F926L	ENSP00000296755:F926L	F	+	1	0	MAP1B	71527714	1.000000	0.71417	0.573000	0.28510	0.061000	0.15899	4.263000	0.58853	2.133000	0.65898	0.482000	0.46254	TTT	-	NULL		0.507	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	T	NM_005909		71527714	+1	no_errors	NM_005909.3	genbank	human	validated	54_36p	missense	SNP	1.000	C
PCDHA4	56144	genome.wustl.edu	37	5	140188067	140188067	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr5:140188067C>T	ENST00000530339.1	+	1	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S432L|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S432L	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S432L(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.617																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	5											105.0	105.0	105.0					5																	140188067		2203	4300	6503	140168251	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1295C>T	5.37:g.140188067C>T	ENSP00000435300:p.Ser432Leu	Somatic	44	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	140168251	127	44.10	101	O75285|Q2M253	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.S432L	ENST00000530339.1	37	c.1295	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	10.03	1.237673	0.22711	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54675	0.56;0.56;0.56	4.5	0.142	0.14816	Cadherin (5);Cadherin-like (1);	0.942549	0.08589	N	0.923331	T	0.48169	0.1485	M	0.77103	2.36	0.09310	N	1	P;B;B	0.40731	0.728;0.178;0.143	B;B;B	0.37422	0.249;0.1;0.068	T	0.45026	-0.9289	10	0.54805	T	0.06	.	3.2126	0.06687	0.1188:0.5495:0.1159:0.2158	.	432;432;432	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	432	ENSP00000423470:S432L;ENSP00000349344:S432L;ENSP00000435300:S432L	ENSP00000349344:S432L	S	+	2	0	PCDHA4	140168251	0.000000	0.05858	0.425000	0.26659	0.600000	0.36913	-0.599000	0.05700	0.098000	0.17522	-0.232000	0.12228	TCG	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.617	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	C	NM_018907		140168251	+1	no_errors	NM_018907.2	genbank	human	reviewed	54_36p	missense	SNP	0.781	T
GRM8	2918	genome.wustl.edu	37	7	126173251	126173251	+	Missense_Mutation	SNP	G	G	A	rs553468202	byFrequency	TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr7:126173251G>A	ENST00000339582.2	-	9	2993	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	GRM8_ENST00000444921.2_Missense_Mutation_p.R729W|GRM8_ENST00000358373.3_Missense_Mutation_p.R729W|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	729					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R729W(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TCTAGTGTCCGCTGCTCTCCA	0.502										HNSCC(24;0.065)			G|||	2	0.000399361	0.0	0.0	5008	,	,		11976	0.0		0.0	False		,,,				2504	0.002					dbGAP											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	7											87.0	73.0	78.0					7																	126173251		2203	4300	6503	125960487	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2185C>T	7.37:g.126173251G>A	ENSP00000344173:p.Arg729Trp	Somatic	378	0.79	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	125960487	187	40.69	129	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.R729W	ENST00000339582.2	37	c.2185	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159054	0.57368	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88896	-2.44;-2.44;-2.44	5.61	1.15	0.20763	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.94015	0.7287	10	0.87932	D	0	.	14.4817	0.67587	0.0:0.0:0.2529:0.7471	.	729;729	O00222-2;O00222	.;GRM8_HUMAN	W	729	ENSP00000344173:R729W;ENSP00000409790:R729W;ENSP00000351142:R729W	ENSP00000344173:R729W	R	-	1	2	GRM8	125960487	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	0.411000	0.21115	0.283000	0.22279	0.655000	0.94253	CGG	-	HMMPfam_7tm_3		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	protein_coding	OTTHUMT00000059209.4	G			125960487	-1	no_errors	NM_000845.2	genbank	human	reviewed	54_36p	missense	SNP	0.995	A
ZNF485	220992	genome.wustl.edu	37	10	44112535	44112535	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr10:44112535C>G	ENST00000361807.3	+	5	1238	c.1044C>G	c.(1042-1044)caC>caG	p.H348Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.H348Q|ZNF485_ENST00000374437.2_Missense_Mutation_p.H257Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H309Q(1)|p.H348Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGAAAACTCACAGTGGAAATA	0.433																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	10											119.0	111.0	114.0					10																	44112535		2203	4300	6503	43432541	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1044C>G	10.37:g.44112535C>G	ENSP00000354694:p.His348Gln	Somatic	165	0.00	0		6	60.00	9	WXS	Illumina HiSeq	Phase_IV	43432541	143	41.15	100	B4DSE6|Q96CL0	Missense_Mutation	SNP	HMMSmart_KRAB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.H309Q	ENST00000361807.3	37	c.927	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191639	0.21954	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.66995	-0.24;-0.24;-0.24	1.59	0.423	0.16463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83161	0.5194	H	0.95745	3.715	0.26969	N	0.965635	D	0.89917	1.0	D	0.97110	1.0	T	0.70004	-0.4991	9	0.87932	D	0	.	4.0477	0.09781	0.0:0.4108:0.0:0.5892	.	348	Q8NCK3	ZN485_HUMAN	Q	348;257;348	ENSP00000354694:H348Q;ENSP00000363560:H257Q;ENSP00000363558:H348Q	ENSP00000354694:H348Q	H	+	3	2	ZNF485	43432541	0.001000	0.12720	0.922000	0.36590	0.881000	0.50899	-0.472000	0.06623	0.108000	0.17862	-0.752000	0.03492	CAC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.433	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	protein_coding	OTTHUMT00000047719.2	C	NM_145312		43432541	+1	no_errors	NM_145312.3	genbank	human	validated	54_36p	missense	SNP	0.995	G
B4GALNT1	2583	genome.wustl.edu	37	12	58025850	58025850	+	Silent	SNP	G	G	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr12:58025850G>A	ENST00000341156.4	-	2	650	c.66C>T	c.(64-66)ctC>ctT	p.L22L	B4GALNT1_ENST00000449184.3_Silent_p.L22L|B4GALNT1_ENST00000552350.1_Silent_p.L22L|B4GALNT1_ENST00000550764.1_Silent_p.L22L|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Silent_p.L22L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	22					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.L22L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCGCGTACAGGAGCCCCAGCG	0.726																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12											5.0	8.0	7.0					12																	58025850		2078	4043	6121	56312117	SO:0001819	synonymous_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.66C>T	12.37:g.58025850G>A		Somatic	216	1.82	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	56312117	118	41.58	84	B4DE26|Q8N636	Silent	SNP	HMMPfam_Glycos_transf_2,superfamily_SSF53448	p.L22	ENST00000341156.4	37	c.66	CCDS8950.1	12																																																																																			-	NULL		0.726	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478		56312117	-1	no_errors	NM_001478.3	genbank	human	reviewed	54_36p	silent	SNP	0.988	A
USP44	84101	genome.wustl.edu	37	12	95926872	95926872	+	Silent	SNP	A	A	G			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr12:95926872A>G	ENST00000258499.3	-	2	1449	c.1161T>C	c.(1159-1161)acT>acC	p.T387T	USP44_ENST00000552440.1_Silent_p.T387T|USP44_ENST00000393091.2_Silent_p.T387T|USP44_ENST00000537435.2_Silent_p.T387T	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	387	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T387T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTTGGAACAAAGTATGCAATT	0.458																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12											144.0	130.0	135.0					12																	95926872		2203	4300	6503	94451003	SO:0001819	synonymous_variant	0			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1161T>C	12.37:g.95926872A>G		Somatic	172	2.82	5		12	42.86	9	WXS	Illumina HiSeq	Phase_IV	94451003	258	37.98	158	B2RDW3	Silent	SNP	HMMPfam_UCH,HMMPfam_zf-UBP,HMMSmart_SM00290,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases	p.T387	ENST00000258499.3	37	c.1161	CCDS9053.1	12																																																																																			-	HMMPfam_UCH,superfamily_Cysteine proteinases		0.458	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP44	protein_coding	OTTHUMT00000408312.1	A	NM_032147		94451003	-1	no_errors	NM_001042403.1	genbank	human	validated	54_36p	silent	SNP	0.997	G
CACNA1G	8913	genome.wustl.edu	37	17	48667949	48667949	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr17:48667949T>C	ENST00000359106.5	+	10	2419	c.2419T>C	c.(2419-2421)Tac>Cac	p.Y807H	CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y807H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y807H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y807H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y807H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y807H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y807H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	807					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAAGAATCCCTACAACATCTT	0.537																																						dbGAP											0			17											111.0	108.0	109.0					17																	48667949		2027	4173	6200	46022948	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2419T>C	17.37:g.48667949T>C	ENSP00000352011:p.Tyr807His	Somatic	383	0.26	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	46022948	425	41.02	297	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels	p.Y807H	ENST00000359106.5	37	c.2419	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	t	29.8	5.034415	0.93575	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	L	0.58101	1.795	0.80722	D	1	P;D;P;P;P;P;P;P;P;P;D;P;P;D;P;P;D;D;P;P;D;D;P;B;D;D	0.89917	0.785;0.966;0.839;0.71;0.821;0.905;0.817;0.903;0.817;0.869;0.984;0.948;0.883;0.963;0.888;0.893;0.98;0.96;0.946;0.762;1.0;0.988;0.944;0.015;1.0;0.975	P;D;P;P;P;P;P;D;P;P;D;D;D;D;P;D;D;P;D;P;D;D;D;B;D;D	0.91635	0.721;0.953;0.874;0.841;0.841;0.874;0.8;0.932;0.8;0.841;0.946;0.945;0.953;0.957;0.724;0.949;0.957;0.857;0.949;0.861;0.999;0.967;0.912;0.05;0.999;0.927	D	0.99890	1.1133	10	0.87932	D	0	.	15.8337	0.78782	0.0:0.0:0.0:1.0	.	807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	807	ENSP00000353990:Y807H;ENSP00000339302:Y807H;ENSP00000392390:Y807H;ENSP00000347078:Y807H;ENSP00000409759:Y807H;ENSP00000425522:Y807H;ENSP00000426261:Y807H;ENSP00000425451:Y807H;ENSP00000422407:Y807H;ENSP00000426814:Y807H;ENSP00000427238:Y807H;ENSP00000423112:Y807H;ENSP00000420918:Y807H;ENSP00000426172:Y807H;ENSP00000423045:Y807H;ENSP00000427173:Y807H;ENSP00000426098:Y807H;ENSP00000425698:Y807H;ENSP00000426232:Y807H;ENSP00000423317:Y807H;ENSP00000350979:Y807H;ENSP00000352011:Y807H;ENSP00000414388:Y807H;ENSP00000423155:Y807H;ENSP00000422268:Y807H;ENSP00000421518:Y807H	ENSP00000339302:Y807H	Y	+	1	0	CACNA1G	46022948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.152000	0.67230	0.459000	0.35465	TAC	-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.537	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	T	NM_018896		46022948	+1	no_errors	NM_018896.3	genbank	human	validated	54_36p	missense	SNP	1.000	C
ATP9B	374868	genome.wustl.edu	37	18	77013482	77013482	+	Silent	SNP	T	T	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr18:77013482T>A	ENST00000426216.2	+	12	1226	c.1209T>A	c.(1207-1209)ggT>ggA	p.G403G	ATP9B_ENST00000307671.7_Silent_p.G403G|RP11-1136J12.1_ENST00000591742.1_RNA	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	403					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G403G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GATTTGTGGGTCCATGGTACC	0.378																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	18											241.0	220.0	227.0					18																	77013482		2203	4300	6503	75114470	SO:0001819	synonymous_variant	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1209T>A	18.37:g.77013482T>A		Somatic	75	3.85	3		21	50.00	21	WXS	Illumina HiSeq	Phase_IV	75114470	168	41.11	118	O60872|Q08AD8|Q08AD9	Silent	SNP	HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.G403	ENST00000426216.2	37	c.1209	CCDS12014.1	18																																																																																			-	HMMPfam_E1-E2_ATPase		0.378	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	protein_coding	OTTHUMT00000256402.3	T	NM_198531		75114470	+1	no_errors	NM_198531.3	genbank	human	validated	54_36p	silent	SNP	0.999	A
NDUFA13	51079	genome.wustl.edu	37	19	19626967	19626967	+	5'UTR	SNP	T	T	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr19:19626967T>C	ENST00000507754.4	+	0	404				NDUFA13_ENST00000428459.2_5'Flank|TSSK6_ENST00000360913.3_5'Flank|TSSK6_ENST00000585580.3_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S57P|YJEFN3_ENST00000608404.1_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.S57P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GCGGACCATCTCAAGTGCTTC	0.622																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											47.0	47.0	47.0					19																	19626967		2203	4300	6503	19487967	SO:0001623	5_prime_UTR_variant	0			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.-81T>C	19.37:g.19626967T>C		Somatic	250	1.96	5		2	60.00	3	WXS	Illumina HiSeq	Phase_IV	19487967	186	42.59	138	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	HMMPfam_GRIM-19	p.S57P	ENST00000507754.4	37	c.169	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261732	0.39995	.	.	ENSG00000186010	ENST00000252576	T	0.81247	-1.47	4.18	-3.13	0.05266	.	.	.	.	.	T	0.68072	0.2961	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.59010	-0.7534	6	0.40728	T	0.16	.	2.6166	0.04906	0.0996:0.1443:0.2806:0.4756	.	.	.	.	P	57	ENSP00000252576:S57P	ENSP00000252576:S57P	S	+	1	0	NDUFA13	19487967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.240000	0.08952	-0.212000	0.10109	-0.219000	0.12488	TCA	-	NULL		0.622	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	NDUFA13	protein_coding	OTTHUMT00000367916.6	T	NM_015965		19487967	+1	no_errors	NM_015965.5	genbank	human	validated	54_36p	missense	SNP	0.000	C
FLT3	2322	genome.wustl.edu	37	13	28608262	28608263	+	In_Frame_Ins	INS	-	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCA			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	-	-	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCA	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr13:28608262_28608263insTCATATTCTCTGAAATCAACGTAGAAGTACTCA	ENST00000241453.7	-	14	1874_1875	c.1793_1794insTGAGTACTTCTACGTTGATTTCAGAGAATATGA	c.(1792-1794)gaa>gaTGAGTACTTCTACGTTGATTTCAGAGAATATGAa	p.597_598insDEYFYVDFREY	FLT3_ENST00000380982.4_In_Frame_Ins_p.597_598insDEYFYVDFREY|FLT3_ENST00000537084.1_In_Frame_Ins_p.597_598insDEYFYVDFREY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.597_598>DYVDFREY(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599ins14(1)|p.E598>DMISPEDMK(1)|p.E598_Y599insFYVDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGATCATATTCATATTCTCT	0.376			"""Mis, O"""		"""AML, ALL"""																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	6	Insertion - In frame(4)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(6)	13																																								27506263	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1761_1793dupTGAGTACTTCTACGTTGATTTCAGAGAATATGA	13.37:g.28608262_28608263insTCATATTCTCTGAAATCAACGTAGAAGTACTCA	ENSP00000241453:p.Tyr597_Glu598insAspGluTyrPheTyrValAspPheArgGluTyr	Somatic	NA	NA	NA		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	27506262	NA	NA	NA	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.598in_frame_insDEYFYVDFREY	ENST00000241453.7	37	c.1793	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506263	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.821	TCATATTCTCTGAAATCAACGTAGAAGTACTCA
