#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	A	A	A	G	A	A	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			MT																																								11462	SO:0001628	intergenic_variant	0																															Unknown.37:g.0A>G		Somatic	1213	1.30	16		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	11462	2519	12.47	360		Silent	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.V234		37	c.702		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND4			A			11462	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	silent	SNP	NULL	G
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	A	G	G	Verified	Invalid:failed_liftOver	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																						dbGAP											0			NT_113923																																								88050	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A		Somatic	73	2.67	2		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	88049	21	46.15	18		Splice_Site	SNP	-	e6-1		37	c.733-1		NT_113923																																																																																			-	-	0	0					ENSG00000216522			G			88050	-1	no_errors	ENST00000402757	ensembl	human	known	54_36p	splice_site	SNP	NULL	A
KIT	3815	genome.wustl.edu	37	4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	rs121913507		TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	4	GRCh37	CM952169	KIT	M	rs121913507						145.0	146.0	145.0					4																	55599321		2203	4300	6503	55294078	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val	Somatic	54	3.57	2		44	52.69	49	WXS	Illumina HiSeq	Phase_IV	55294078	35	44.44	28	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D816V	ENST00000288135.5	37	c.2447	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	A			55294078	+1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
C2	717	genome.wustl.edu	37	6	31901543	31901543	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr6:31901543C>T	ENST00000299367.5	+	4	875	c.599C>T	c.(598-600)aCg>aTg	p.T200M	C2_ENST00000469372.1_Missense_Mutation_p.R32W|CFB_ENST00000456570.1_Missense_Mutation_p.T138M|CFB_ENST00000556679.1_Missense_Mutation_p.T138M|C2_ENST00000442278.2_Missense_Mutation_p.T68M|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.T77M|C2_ENST00000418949.2_Missense_Mutation_p.T200M	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	200	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGGAGTGGAACGGAGCCCATC	0.652																																						dbGAP											0			6											66.0	58.0	61.0					6																	31901543		1511	2709	4220	32009522	SO:0001583	missense	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.599C>T	6.37:g.31901543C>T	ENSP00000299367:p.Thr200Met	Somatic	99	1.98	2		5	0.00	0	WXS	Illumina HiSeq	Phase_IV	32009522	15	59.46	22	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_VWA,HMMSmart_SM00327,superfamily_Trypsin-like serine proteases,superfamily_Complement control module/SCR domain,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_vWA-like	p.T200M	ENST00000299367.5	37	c.599	CCDS4728.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.127851|2.127851	0.37533|0.37533	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	D;D|T;T;T;T;T;T;T;T;T	0.91237|0.65364	-2.64;-2.81|-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.67|5.67	4.8|4.8	0.61643|0.61643	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.191814	.|0.25807	.|N	.|0.028170	T|T	0.65196|0.65196	0.2668|0.2668	M|M	0.66297|0.66297	2.02|2.02	0.23704|0.23704	N|N	0.997061|0.997061	B;B|P;D;B;D;D;P;D	0.14012|0.89917	0.009;0.004|0.495;1.0;0.328;1.0;1.0;0.923;1.0	B;B|B;D;B;D;D;P;D	0.08055|0.70716	0.003;0.001|0.126;0.97;0.176;0.97;0.97;0.553;0.963	T|T	0.61257|0.61257	-0.7099|-0.7099	8|10	.|0.54805	.|T	.|0.06	-4.2844|-4.2844	10.9748|10.9748	0.47459|0.47459	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.	32;32|138;171;77;68;68;200;200	B4DQI1;E9PDZ0|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.;.|.;.;.;.;.;CO2_HUMAN;.	W|M	32;32;32;65|77;77;200;68;138;200;59;138;138	ENSP00000418923:R32W;ENSP00000417482:R32W|ENSP00000392322:T77M;ENSP00000406121:T77M;ENSP00000299367:T200M;ENSP00000395683:T68M;ENSP00000391354:T138M;ENSP00000406190:T200M;ENSP00000419048:T59M;ENSP00000451848:T138M;ENSP00000410815:T138M	.|ENSP00000299367:T200M	R|T	+|+	1|2	2|0	C2|CFB;C2;XXbac-BPG116M5.17	32009522|32009522	0.056000|0.056000	0.20664|0.20664	0.582000|0.582000	0.28627|0.28627	0.207000|0.207000	0.24258|0.24258	1.328000|1.328000	0.33758|0.33758	1.400000|1.400000	0.46741|0.46741	0.563000|0.563000	0.77884|0.77884	CGG|ACG	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.652	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	protein_coding	OTTHUMT00000076379.9	C			32009522	+1	no_errors	NM_000063.4	genbank	human	reviewed	54_36p	missense	SNP	0.933	T
GPR115	221393	genome.wustl.edu	37	6	47681801	47681801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr6:47681801C>T	ENST00000283303.2	+	6	1078	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.Q274*|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Nonsense_Mutation_p.Q331*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	274					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGGAATGGTACAGATTCCCAG	0.453																																					GBM(22;431 510 9010 26644 32828)	dbGAP											0			6											60.0	61.0	61.0					6																	47681801		2203	4300	6503	47789760	SO:0001587	stop_gained	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.820C>T	6.37:g.47681801C>T	ENSP00000283303:p.Gln274*	Somatic	156	4.29	7		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	47789760	36	40.00	24	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Nonsense_Mutation	SNP	HMMPfam_7tm_2	p.Q274*	ENST00000283303.2	37	c.820	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243162	0.58995	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.19	2.26	0.28386	.	0.419896	0.22925	N	0.053963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-18.6662	9.7384	0.40401	0.0:0.2893:0.5734:0.1373	.	.	.	.	X	331;274;274	.	ENSP00000283303:Q274X	Q	+	1	0	GPR115	47789760	1.000000	0.71417	0.891000	0.34965	0.025000	0.11179	1.046000	0.30354	1.314000	0.45095	-0.165000	0.13383	CAG	-	NULL		0.453	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	C	NM_153838		47789760	+1	no_errors	NM_153838.3	genbank	human	validated	54_36p	nonsense	SNP	0.042	T
WBSCR17	64409	genome.wustl.edu	37	7	71130529	71130529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr7:71130529G>A	ENST00000333538.5	+	7	1848	c.1214G>A	c.(1213-1215)tGg>tAg	p.W405*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	405					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTGAGGTCTGGATGGACGAT	0.527																																						dbGAP											0			7											122.0	101.0	108.0					7																	71130529		2203	4300	6503	70768465	SO:0001587	stop_gained	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1214G>A	7.37:g.71130529G>A	ENSP00000329654:p.Trp405*	Somatic	259	3.36	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	70768465	49	42.35	36	Q8NFV9|Q9NTA8	Nonsense_Mutation	SNP	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases	p.W405*	ENST00000333538.5	37	c.1214	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.334671	0.99548	.	.	ENSG00000185274	ENST00000333538	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	.	.	.	X	405	.	ENSP00000329654:W405X	W	+	2	0	WBSCR17	70768465	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	TGG	-	superfamily_Nucleotide-diphospho-sugar transferases		0.527	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	protein_coding	OTTHUMT00000252006.1	G	NM_022479		70768465	+1	no_errors	NM_022479.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
GSTK1	373156	genome.wustl.edu	37	7	142960614	142960614	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr7:142960614C>A	ENST00000358406.5	+	1	79	c.8C>A	c.(7-9)cCc>cAc	p.P3H	GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000409500.3_Missense_Mutation_p.P3H|GSTK1_ENST00000479303.1_Missense_Mutation_p.P3H|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.P3H	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	3					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AGCATGGGGCCCCTGCCGCGC	0.692																																						dbGAP											0			7											47.0	52.0	50.0					7																	142960614		2203	4299	6502	142670736	SO:0001583	missense	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"""Glutathione S-transferases / Mitochondrial (kappa)"""	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.8C>A	7.37:g.142960614C>A	ENSP00000351181:p.Pro3His	Somatic	103	1.90	2		156	39.77	103	WXS	Illumina HiSeq	Phase_IV	142670736	24	46.67	21	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	HMMPfam_DSBA,superfamily_Thioredoxin-like	p.P3H	ENST00000358406.5	37	c.8	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643001	0.29246	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.49	4.57	0.56435	Thioredoxin-like fold (1);	0.720502	0.13751	N	0.365258	T	0.47322	0.1439	N	0.25647	0.755	0.09310	N	1	P;P;D;B	0.63880	0.525;0.606;0.993;0.441	B;P;P;B	0.59171	0.301;0.519;0.853;0.15	T	0.36962	-0.9726	9	0.87932	D	0	-11.6129	13.1552	0.59514	0.0:0.8251:0.1749:0.0	.	3;3;3;3	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	H	3	.	ENSP00000351181:P3H	P	+	2	0	GSTK1	142670736	0.001000	0.12720	0.590000	0.28732	0.075000	0.17131	0.487000	0.22356	2.591000	0.87537	0.585000	0.79938	CCC	-	superfamily_Thioredoxin-like		0.692	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	protein_coding	OTTHUMT00000327091.1	C	NM_015917		142670736	+1	no_errors	NM_015917.1	genbank	human	reviewed	54_36p	missense	SNP	0.294	A
ZFHX4	79776	genome.wustl.edu	37	8	77764108	77764108	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr8:77764108G>C	ENST00000521891.2	+	10	5399	c.4951G>C	c.(4951-4953)Gat>Cat	p.D1651H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1606H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1606H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1625H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1606	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGGATGTTAGATTCCATGAG	0.473										HNSCC(33;0.089)																												dbGAP											0			8											76.0	75.0	75.0					8																	77764108		1928	4130	6058	77926663	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4951G>C	8.37:g.77764108G>C	ENSP00000430497:p.Asp1651His	Somatic	290	1.69	5		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	77926663	73	41.13	51	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers	p.D1606H	ENST00000521891.2	37	c.4816	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368006	0.24771	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50548	0.74;0.79;0.76;0.75	4.41	4.41	0.53225	.	0.700188	0.12164	U	0.493663	T	0.49932	0.1586	L	0.47716	1.5	0.58432	D	0.999999	P;P;P	0.40083	0.577;0.702;0.702	B;B;B	0.42798	0.224;0.398;0.398	T	0.51803	-0.8659	10	0.45353	T	0.12	.	17.537	0.87834	0.0:0.0:1.0:0.0	.	1606;1606;1651	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1651;1651;1606;1606;1625	ENSP00000430497:D1651H;ENSP00000399605:D1606H;ENSP00000050961:D1606H;ENSP00000430848:D1625H	ENSP00000050961:D1606H	D	+	1	0	ZFHX4	77926663	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	9.513000	0.98010	2.456000	0.83038	0.542000	0.68232	GAT	-	NULL		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77926663	+1	no_errors	NM_024721.3	genbank	human	validated	54_36p	missense	SNP	0.990	C
TMTC4	84899	genome.wustl.edu	37	13	101277848	101277848	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr13:101277848G>A	ENST00000376234.3	-	14	1909	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	TMTC4_ENST00000342624.5_Missense_Mutation_p.R593W|TMTC4_ENST00000328767.5_Missense_Mutation_p.R463W|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	574						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTGCTGTCCGGTAACTTTGC	0.512																																						dbGAP											0			13											136.0	115.0	122.0					13																	101277848		2203	4300	6503	100075849	SO:0001583	missense	0				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1720C>T	13.37:g.101277848G>A	ENSP00000365408:p.Arg574Trp	Somatic	282	5.69	17		9	50.00	9	WXS	Illumina HiSeq	Phase_IV	100075849	65	39.25	42	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_TPR_2,HMMPfam_DUF1736,HMMSmart_SM00028,superfamily_TPR-like	p.R593W	ENST00000376234.3	37	c.1777	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909053	0.52439	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.61274	0.12;0.12;0.12	5.6	3.49	0.39957	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.359311	0.34291	N	0.004097	T	0.59335	0.2186	M	0.90922	3.16	0.33634	D	0.606426	B;B;B;B	0.26483	0.014;0.021;0.003;0.15	B;B;B;B	0.25884	0.015;0.005;0.009;0.064	T	0.66555	-0.5894	10	0.40728	T	0.16	.	4.6205	0.12447	0.4176:0.0:0.5824:0.0	.	463;574;574;593	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	W	574;593;463	ENSP00000365408:R574W;ENSP00000343871:R593W;ENSP00000365409:R463W	ENSP00000365409:R463W	R	-	1	2	TMTC4	100075849	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.950000	0.56676	1.496000	0.48567	0.650000	0.86243	CGG	-	HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like		0.512	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	protein_coding	OTTHUMT00000045649.2	G	NM_032813		100075849	-1	no_errors	NM_032813.1	genbank	human	validated	54_36p	missense	SNP	1.000	A
DNAH9	1770	genome.wustl.edu	37	17	11554599	11554599	+	Missense_Mutation	SNP	C	C	T	rs137877445		TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr17:11554599C>T	ENST00000262442.4	+	13	2379	c.2311C>T	c.(2311-2313)Cgc>Tgc	p.R771C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R771C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	771	Stem. {ECO:0000250}.		R -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATTGATCTCCGCCTCAGAGC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.001					dbGAP											0			17						C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	62.0	67.0	65.0		2311	-10.7	0.0	17	dbSNP_134	65	0,8600		0,0,4300	yes	missense	DNAH9	NM_001372.3	180	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	771/4487	11554599	6,13000	2203	4300	6503	11495324	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2311C>T	17.37:g.11554599C>T	ENSP00000262442:p.Arg771Cys	Somatic	148	2.63	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	11495324	31	48.33	29	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R771C	ENST00000262442.4	37	c.2311	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	5.071	0.198725	0.09652	0.001362	0.0	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55760	0.5;0.5	5.34	-10.7	0.00240	Dynein heavy chain, domain-1 (1);	1.127050	0.06456	N	0.728642	T	0.23649	0.0572	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.30060	-0.9991	10	0.46703	T	0.11	.	6.9739	0.24664	0.0766:0.4566:0.0716:0.3952	.	771	Q9NYC9	DYH9_HUMAN	C	771	ENSP00000262442:R771C;ENSP00000414874:R771C	ENSP00000262442:R771C	R	+	1	0	DNAH9	11495324	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.337000	0.02657	-1.952000	0.01027	-0.743000	0.03520	CGC	-	HMMPfam_DHC_N1		0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11495324	+1	no_errors	NM_001372.3	genbank	human	reviewed	54_36p	missense	SNP	0.002	T
RNF213	57674	genome.wustl.edu	37	17	78321433	78321433	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr17:78321433G>C	ENST00000582970.1	+	29	9441	c.9298G>C	c.(9298-9300)Gtg>Ctg	p.V3100L	RNF213_ENST00000508628.2_Missense_Mutation_p.V3149L|RNF213_ENST00000336301.6_Missense_Mutation_p.V1173L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3100					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGCAAGATGGTGTTGCTTCT	0.517																																						dbGAP											0			17											94.0	91.0	92.0					17																	78321433		2203	4300	6503	75936028	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9298G>C	17.37:g.78321433G>C	ENSP00000464087:p.Val3100Leu	Somatic	65	2.99	2		40	43.66	31	WXS	Illumina HiSeq	Phase_IV	75936028	22	31.25	10	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box	p.V1173L	ENST00000582970.1	37	c.3517	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064904	0.36470	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.41065	1.01	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.49321	0.1550	M	0.62266	1.93	0.34149	D	0.667254	P	0.42827	0.791	P	0.44921	0.464	T	0.61372	-0.7076	10	0.37606	T	0.19	.	18.9568	0.92661	0.0:0.0:1.0:0.0	.	1173	Q63HN8	RN213_HUMAN	L	3100;3149;1173	ENSP00000338218:V1173L	ENSP00000338218:V1173L	V	+	1	0	RNF213	75936028	1.000000	0.71417	0.989000	0.46669	0.738000	0.42128	6.495000	0.73665	2.542000	0.85734	0.563000	0.77884	GTG	-	NULL		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914		75936028	+1	no_errors	NM_020914.3	genbank	human	validated	54_36p	missense	SNP	1.000	C
TET2	54790	genome.wustl.edu	37	4	106155474	106155474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr4:106155474delC	ENST00000540549.1	+	3	1235	c.375delC	c.(373-375)ttcfs	p.F125fs	TET2_ENST00000394764.1_Frame_Shift_Del_p.F125fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.F146fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.F125fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.F125fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.F125fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.F125fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	125					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.F125fs*3(1)		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)		GACGTAACTTCGGGGTAAGCC	0.418			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	4											58.0	57.0	58.0					4																	106155474		2203	4300	6503	106374923	SO:0001589	frameshift_variant	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.375delC	4.37:g.106155474delC	ENSP00000442788:p.Phe125fs	Somatic	0	0.00	0		0	75.00	12	WXS	Illumina HiSeq	Phase_IV	106374923	1	60.00	3	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.F125fs	ENST00000540549.1	37	c.375	CCDS47120.1	4																																																																																			-	NULL		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106374923	+1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_del	DEL	0.600	-
HNRNPK	3190	genome.wustl.edu	37	9	86591908	86591909	+	Splice_Site	INS	-	-	T			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr9:86591908_86591909insT	ENST00000376264.2	-	5	472		c.e5+1		RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Splice_Site|HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000376263.3_Splice_Site|HNRNPK_ENST00000360384.5_Splice_Site	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTAATACTTACGTCTGTACGG	0.347																																						dbGAP											0			9																																								85781729	SO:0001630	splice_region_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.213+1->A	9.37:g.86591908_86591909insT		Somatic	55	0.00	0		15	68.75	33	WXS	Illumina HiSeq	Phase_IV	85781728	36	35.71	20	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Splice_Site	INS	-	e3+1	ENST00000376264.2	37	c.213+1_213+1	CCDS6667.1	9																																																																																			-	-		0.347	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	protein_coding	OTTHUMT00000052846.2	-		Intron	85781729	-1	no_errors	NM_002140.3	genbank	human	reviewed	54_36p	splice_site_ins	INS	1.000:1.000	T
HNRNPK	3190	genome.wustl.edu	37	9	86591909	86591910	+	Splice_Site	INS	-	-	TA			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	-	-	-	TA	-	-	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr9:86591909_86591910insTA	ENST00000376264.2	-	5	471_472		c.e5+1		RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000376281.4_Splice_Site|HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000376263.3_Splice_Site|HNRNPK_ENST00000360384.5_Splice_Site	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTAATACTTACGTCTGTACGGA	0.342																																						dbGAP											0			9																																								85781730	SO:0001630	splice_region_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"""transformation upregulated nuclear protein"""	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.213+1->TA	9.37:g.86591909_86591910insTA		Somatic	56	0.00	0		52	0.00	0	WXS	Illumina HiSeq	Phase_IV	85781729	36	35.71	20	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Frame_Shift_Ins	INS	HMMSmart_SM00322,HMMPfam_ROKNT,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)	p.N72fs	ENST00000376264.2	37	c.214_213	CCDS6667.1	9																																																																																			-	HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)		0.342	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	protein_coding	OTTHUMT00000052846.2	-		Intron	85781730	-1	no_errors	NM_002140.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	TA
