#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
REG1A	5967	genome.wustl.edu	37	2	79349973	79349973	+	Missense_Mutation	SNP	C	C	T	rs374824380		TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr2:79349973C>T	ENST00000233735.1	+	5	431	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.R110C(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTAGAACCGCCGCTGGCACTG	0.552																																							0											1	Substitution - Missense(1)	endometrium(1)						C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	103.0	103.0		328	0.2	0.9	2		103	0,8600		0,0,4300	no	missense	REG1A	NM_002909.4	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	110/167	79349973	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.328C>T	2.37:g.79349973C>T	ENSP00000233735:p.Arg110Cys		P11379|Q4ZG28	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.R110C	ENST00000233735.1	37	c.328	CCDS1964.1	2	.	.	.	.	.	.	.	.	.	.	c	9.947	1.219017	0.22373	2.27E-4	0.0	ENSG00000115386	ENST00000233735	T	0.19394	2.15	2.4	0.179	0.15063	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.391148	0.18799	N	0.130853	T	0.20700	0.0498	M	0.81497	2.545	0.36615	D	0.875424	B	0.11235	0.004	B	0.04013	0.001	T	0.11494	-1.0585	10	0.52906	T	0.07	.	2.4197	0.04445	0.2926:0.5242:0.0:0.1832	.	110	P05451	REG1A_HUMAN	C	110	ENSP00000233735:R110C	ENSP00000233735:R110C	R	+	1	0	REG1A	79203481	0.001000	0.12720	0.904000	0.35570	0.785000	0.44390	-0.144000	0.10280	0.329000	0.23460	0.557000	0.71058	CGC	0	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.552	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	protein_coding	OTTHUMT00000252289.1	37	197	0	0.00	0	0	C	NM_002909	rs374824380	C->T		79349973	1	no_errors	ENST00000233735	ensembl	human	known	74_37	missense	53	144	7.02	15.79	4	27	SNP	0.88	T
FMNL2	114793	genome.wustl.edu	37	2	153493018	153493018	+	Missense_Mutation	SNP	C	C	T			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr2:153493018C>T	ENST00000475377.2	+	9	1083	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	FMNL2_ENST00000288670.9_Missense_Mutation_p.H920Y			Q96PY5	FMNL2_HUMAN	formin-like 2	920	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GTACACCATGCATGACCATAA	0.493																																							0											0													79.0	79.0	79.0					2																	153493018		2076	4224	6300	SO:0001583	missense	0			AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000475377.2:c.883C>T	2.37:g.153493018C>T	ENSP00000418959:p.His295Tyr		B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.H920Y	ENST00000475377.2	37	c.2758		2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254465	0.80135	.	.	ENSG00000157827	ENST00000288670;ENST00000421344;ENST00000475377	T;T	0.63255	-0.03;-0.03	5.67	5.67	0.87782	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.81559	0.4848	M	0.84683	2.71	0.80722	D	1	P;D;D	0.65815	0.925;0.995;0.975	D;D;P	0.67900	0.954;0.943;0.836	T	0.81854	-0.0741	10	0.46703	T	0.11	.	19.7694	0.96356	0.0:1.0:0.0:0.0	.	920;401;920	Q96PY5;Q6ZN96;Q96PY5-3	FMNL2_HUMAN;.;.	Y	920;401;295	ENSP00000288670:H920Y;ENSP00000418959:H295Y	ENSP00000288670:H920Y	H	+	1	0	FMNL2	153201264	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.818000	0.86416	2.689000	0.91719	0.563000	0.77884	CAT	0	pfam_FH2_Formin,smart_FH2_Formin		0.493	FMNL2-002	NOVEL	basic|exp_conf	protein_coding	FMNL2	protein_coding	OTTHUMT00000333583.3	36	173	0	0.00	0	0	C	NM_052905	0	0		153493018	1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	48	142	11.11	7.19	6	11	SNP	1	T
DNAH7	56171	genome.wustl.edu	37	2	196912090	196912090	+	Silent	SNP	A	A	G			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr2:196912090A>G	ENST00000312428.6	-	5	484	c.384T>C	c.(382-384)ctT>ctC	p.L128L	DNAH7_ENST00000410072.1_Silent_p.L128L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	128	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACATTAACAAGAGTACTTC	0.368																																							0											0													150.0	144.0	146.0					2																	196912090		1847	4089	5936	SO:0001819	synonymous_variant	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.384T>C	2.37:g.196912090A>G			B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L128	ENST00000312428.6	37	c.384	CCDS42794.1	2																																																																																			0	NULL		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	48	277	0	0.00	0	0	A	NM_018897	0	0		196912090	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	silent	80	309	8.99	5.50	8	18	SNP	0.966	G
FAM105A	54491	genome.wustl.edu	37	5	14608872	14608872	+	Missense_Mutation	SNP	G	G	T			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr5:14608872G>T	ENST00000274217.3	+	7	763	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	215	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGAATTTAATGGCATTAGAGA	0.303																																							0											0													60.0	60.0	60.0					5																	14608872		2203	4300	6503	SO:0001583	missense	0				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.643G>T	5.37:g.14608872G>T	ENSP00000274217:p.Gly215Cys		Q53H50|Q9H037	Missense_Mutation	SNP	prints_FAM105,prints_FAM105A	p.G215C	ENST00000274217.3	37	c.643	CCDS3884.1	5	.	.	.	.	.	.	.	.	.	.	G	15.01	2.707398	0.48412	.	.	ENSG00000145569	ENST00000274217	T	0.19806	2.12	4.51	3.64	0.41730	.	0.414462	0.23176	N	0.051068	T	0.34774	0.0909	L	0.60455	1.87	0.32701	N	0.512905	D	0.69078	0.997	P	0.60473	0.875	T	0.48433	-0.9036	10	0.72032	D	0.01	-6.6011	8.2907	0.31956	0.2542:0.0:0.7458:0.0	.	215	Q9NUU6	F105A_HUMAN	C	215	ENSP00000274217:G215C	ENSP00000274217:G215C	G	+	1	0	FAM105A	14661872	1.000000	0.71417	0.713000	0.30519	0.980000	0.70556	2.250000	0.43178	0.885000	0.36088	0.484000	0.47621	GGC	0	prints_FAM105,prints_FAM105A		0.303	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	protein_coding	OTTHUMT00000253710.1	24	292	0	0.00	0	0	G	NM_019018	0	0		14608872	1	no_errors	ENST00000274217	ensembl	human	known	74_37	missense	35	253	10.26	12.07	4	35	SNP	0.719	T
ARHGEF28	64283	genome.wustl.edu	37	5	73183500	73183500	+	Missense_Mutation	SNP	C	C	G			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr5:73183500C>G	ENST00000426542.2	+	25	3403	c.3383C>G	c.(3382-3384)gCc>gGc	p.A1128G	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A815G|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.A92G|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A1128G|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A1128G			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1128	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ATCTTTGCAGCCGTTGTAAGT	0.294																																							0											0													71.0	64.0	66.0					5																	73183500		1808	4076	5884	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3383C>G	5.37:g.73183500C>G	ENSP00000412175:p.Ala1128Gly		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A1128G	ENST00000426542.2	37	c.3383	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880782	0.91740	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.32868	U	0.005552	T	0.75110	0.3805	L	0.47716	1.5	0.46336	D	0.998997	D;D;D;D;D	0.76494	0.999;0.998;0.991;0.998;0.994	D;D;P;D;D	0.71184	0.969;0.952;0.884;0.972;0.92	T	0.76219	-0.3039	10	0.72032	D	0.01	.	19.6948	0.96021	0.0:1.0:0.0:0.0	.	815;1128;1128;92;1128	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	G	1128;1128;1128;1128;1128;1128;815;92	ENSP00000296794:A1128G;ENSP00000441913:A1128G;ENSP00000441436:A1128G;ENSP00000287898:A1128G;ENSP00000411459:A1128G;ENSP00000412175:A1128G;ENSP00000296799:A815G;ENSP00000421081:A92G	ENSP00000287898:A1128G	A	+	2	0	RP11-428C6.1	73219256	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	4.512000	0.60469	2.723000	0.93209	0.655000	0.94253	GCC	0	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.294	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	protein_coding	OTTHUMT00000368975.1	58	289	0	0.00	0	0	C		0	0		73183500	1	no_errors	ENST00000545377	ensembl	human	known	74_37	missense	74	333	10.84	7.48	9	27	SNP	1	G
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	243	140	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	355	133	8.48	11.84	33	18	SNP	1	A
UBN2	254048	genome.wustl.edu	37	7	138968003	138968003	+	Silent	SNP	T	T	A			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr7:138968003T>A	ENST00000473989.3	+	15	2352	c.2352T>A	c.(2350-2352)ccT>ccA	p.P784P	UBN2_ENST00000288561.8_Silent_p.P701P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	784						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACAAGGGCCCTCCAGTTGGCT	0.468																																							0											0													112.0	110.0	111.0					7																	138968003		1918	4128	6046	SO:0001819	synonymous_variant	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2352T>A	7.37:g.138968003T>A			A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	NULL	p.P784	ENST00000473989.3	37	c.2352	CCDS43655.2	7																																																																																			0	NULL		0.468	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	38	208	0	0.00	0	0	T	NM_173569	0	0		138968003	1	no_errors	ENST00000473989	ensembl	human	known	74_37	silent	44	182	10.2	6.19	5	12	SNP	0.866	A
GPR158	57512	genome.wustl.edu	37	10	25891104	25891104	+	3'UTR	SNP	G	G	T			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr10:25891104G>T	ENST00000376351.3	+	0	6908				GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158						protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTTGTGACGTGTTGCAGCATG	0.318																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.*2901G>T	10.37:g.25891104G>T			Q6QR81|Q9ULT3	RNA	SNP	0	NULL	ENST00000376351.3	37	NULL	CCDS31166.1	10																																																																																			0	0		0.318	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR158	protein_coding	OTTHUMT00000047248.2	65	267	0	0.00	0	0	G	XM_166110	0	0		25891104	1	no_errors	ENST00000490549	ensembl	human	known	74_37	rna	76	308	8.43	4.94	7	16	SNP	1	T
MUC6	4588	genome.wustl.edu	37	11	1018111	1018111	+	Missense_Mutation	SNP	C	C	A			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr11:1018111C>A	ENST00000421673.2	-	31	4740	c.4690G>T	c.(4690-4692)Gcc>Tcc	p.A1564S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1564	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCTGGTGGCTGAGTTGGTG	0.577																																							0											0													249.0	260.0	256.0					11																	1018111		2182	4272	6454	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4690G>T	11.37:g.1018111C>A	ENSP00000406861:p.Ala1564Ser		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.A1564S	ENST00000421673.2	37	c.4690	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	C	6.618	0.482480	0.12581	.	.	ENSG00000184956	ENST00000421673	T	0.20463	2.07	1.67	-0.699	0.11277	.	.	.	.	.	T	0.15392	0.0371	L	0.58101	1.795	0.09310	N	1	B	0.25486	0.127	B	0.23275	0.045	T	0.34576	-0.9823	9	0.18276	T	0.48	.	2.7357	0.05239	0.0:0.3663:0.2514:0.3823	.	1564	Q6W4X9	MUC6_HUMAN	S	1564	ENSP00000406861:A1564S	ENSP00000406861:A1564S	A	-	1	0	MUC6	1008111	0.997000	0.39634	0.000000	0.03702	0.065000	0.16274	-0.235000	0.09016	-0.169000	0.10834	0.313000	0.20887	GCC	0	NULL		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	54	119	0	0.00	0	0	C	XM_290540	0	0		1018111	-1	no_errors	ENST00000421673	ensembl	human	known	74_37	missense	67	124	8.22	4.58	6	6	SNP	0	A
NCAPD3	23310	genome.wustl.edu	37	11	134028286	134028286	+	Silent	SNP	A	A	G			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr11:134028286A>G	ENST00000534548.2	-	30	4036	c.3972T>C	c.(3970-3972)caT>caC	p.H1324H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1324					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATACTGCTACATGGCCAGCAC	0.577																																							0											0													90.0	87.0	88.0					11																	134028286		2201	4297	6498	SO:0001819	synonymous_variant	0			AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3972T>C	11.37:g.134028286A>G			A6NFS2|Q4KMQ9	Silent	SNP	superfamily_ARM-type_fold,pirsf_NCAPD3	p.H1324	ENST00000534548.2	37	c.3972	CCDS31723.1	11																																																																																			0	pirsf_NCAPD3		0.577	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD3	protein_coding	OTTHUMT00000393575.2	43	68	0	0.00	0	0	A	NM_015261	0	0		134028286	-1	no_errors	ENST00000534548	ensembl	human	known	74_37	silent	40	64	14.89	8.57	7	6	SNP	0	G
CDH11	1009	genome.wustl.edu	37	16	65038702	65038702	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr16:65038702G>A	ENST00000268603.4	-	3	686	c.71C>T	c.(70-72)gCc>gTc	p.A24V	CDH11_ENST00000394156.3_Missense_Mutation_p.A24V|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000566827.1_Intron	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	24					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCGCTCTGGGGCAAAGGCATG	0.617			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													0		Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													20.0	23.0	22.0					16																	65038702		2202	4298	6500	SO:0001583	missense	0			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.71C>T	16.37:g.65038702G>A	ENSP00000268603:p.Ala24Val		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A24V	ENST00000268603.4	37	c.71	CCDS10803.1	16	.	.	.	.	.	.	.	.	.	.	G	4.973	0.180714	0.09443	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000536902	T;T	0.56611	0.45;0.45	5.47	3.46	0.39613	.	1.339510	0.04496	N	0.380433	T	0.44519	0.1297	N	0.19112	0.55	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.40270	-0.9572	10	0.35671	T	0.21	.	14.8823	0.70542	0.0:0.2958:0.7042:0.0	.	24;24	P55287-2;P55287	.;CAD11_HUMAN	V	24	ENSP00000268603:A24V;ENSP00000377711:A24V	ENSP00000268603:A24V	A	-	2	0	CDH11	63596203	0.048000	0.20356	0.001000	0.08648	0.226000	0.24999	2.437000	0.44828	0.635000	0.30488	0.591000	0.81541	GCC	0	NULL		0.617	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	protein_coding	OTTHUMT00000268755.1	35	46	0	0.00	0	0	G	NM_033664	0	0		65038702	-1	no_errors	ENST00000268603	ensembl	human	known	74_37	missense	16	42	15.79	10.64	3	5	SNP	0.001	A
HP	3240	genome.wustl.edu	37	16	72094699	72094699	+	Missense_Mutation	SNP	T	T	A			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr16:72094699T>A	ENST00000355906.5	+	7	1189	c.1131T>A	c.(1129-1131)ttT>ttA	p.F377L	HP_ENST00000357763.4_Missense_Mutation_p.F413L|HPR_ENST00000561690.1_5'Flank|HP_ENST00000398131.2_Missense_Mutation_p.F318L|HPR_ENST00000540303.2_5'Flank|HP_ENST00000565574.1_Missense_Mutation_p.F318L|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron|HP_ENST00000570083.1_Missense_Mutation_p.F318L	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	377	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TCTTAAGCTTTGATAAGAGCT	0.517																																							0											0													215.0	211.0	212.0					16																	72094699		2114	4230	6344	SO:0001583	missense	0				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.1131T>A	16.37:g.72094699T>A	ENSP00000348170:p.Phe377Leu		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.F377L	ENST00000355906.5	37	c.1131	CCDS45524.1	16	.	.	.	.	.	.	.	.	.	.	T	12.59	1.984002	0.35036	.	.	ENSG00000257017	ENST00000355906;ENST00000398131;ENST00000405951;ENST00000357763	D;D	0.93604	-3.25;-3.25	5.21	2.97	0.34412	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.208559	0.42548	D	0.000688	D	0.94371	0.8190	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.997;0.987	D;D;D;D	0.66196	0.942;0.934;0.934;0.929	D	0.92492	0.6001	10	0.72032	D	0.01	.	6.4656	0.21980	0.0:0.1898:0.0:0.8102	.	199;252;318;377	Q6PEJ8;Q6NSB4;Q0VAC5;P00738	.;.;.;HPT_HUMAN	L	377;318;252;353	ENSP00000348170:F377L;ENSP00000381199:F318L	ENSP00000348170:F377L	F	+	3	2	HP	70652200	0.163000	0.22920	1.000000	0.80357	0.879000	0.50718	-0.818000	0.04467	0.454000	0.26884	0.529000	0.55759	TTT	0	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.517	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	protein_coding	OTTHUMT00000421680.1	87	98	0	0.00	0	0	T	NM_005143	0	0		72094699	1	no_errors	ENST00000355906	ensembl	human	known	74_37	missense	71	77	7.79	8.33	6	7	SNP	0.999	A
FAM187A	100528020	genome.wustl.edu	37	17	42982079	42982079	+	Silent	SNP	A	A	G			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr17:42982079A>G	ENST00000331733.4	+	4	2718	c.882A>G	c.(880-882)ccA>ccG	p.P294P	AC015936.3_ENST00000441312.1_RNA|CCDC103_ENST00000417826.2_3'UTR|FAM187A_ENST00000412523.2_Silent_p.P294P	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	A6NFU0	F187A_HUMAN	family with sequence similarity 187, member A	294	Ig-like V-type.					integral component of membrane (GO:0016021)											GGGCCCGGCCAGAGCATGCAG	0.622																																							0											0																																										SO:0001819	synonymous_variant	0					17q21.31	2013-01-11			ENSG00000214447	ENSG00000214447		"""Immunoglobulin superfamily / V-set domain containing"""	35153	protein-coding gene	gene with protein product							Standard			Approved		uc002ihp.1	A6NFU0	OTTHUMG00000154266	ENST00000331733.4:c.882A>G	17.37:g.42982079A>G				Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.P294	ENST00000331733.4	37	c.882		17																																																																																			0	pfscan_Ig-like_dom		0.622	FAM187A-001	KNOWN	basic|appris_principal	protein_coding	FAM187A	protein_coding	OTTHUMT00000334584.1	35	167	0	0.00	0	0	A		0	0		42982079	1	no_errors	ENST00000331733	ensembl	human	known	74_37	silent	24	146	14.29	12.50	4	21	SNP	0.015	G
KPNB1	3837	genome.wustl.edu	37	17	45747113	45747113	+	Missense_Mutation	SNP	G	G	A			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr17:45747113G>A	ENST00000290158.4	+	11	1701	c.1294G>A	c.(1294-1296)Gta>Ata	p.V432I	KPNB1_ENST00000535458.2_Missense_Mutation_p.V287I|KPNB1_ENST00000537679.1_Missense_Mutation_p.V216I|KPNB1_ENST00000540627.1_Missense_Mutation_p.V287I	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	432					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						TGCATGGACTGTAGGCAGAAT	0.453																																							0											0													155.0	143.0	147.0					17																	45747113		2203	4300	6503	SO:0001583	missense	0			L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1294G>A	17.37:g.45747113G>A	ENSP00000290158:p.Val432Ile		B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.V432I	ENST00000290158.4	37	c.1294	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589214	0.46110	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.137579	0.49305	D	0.000143	T	0.12263	0.0298	N	0.01522	-0.82	0.27941	N	0.937515	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17048	-1.0382	9	0.31617	T	0.26	-8.3712	19.1057	0.93294	0.0:0.0:1.0:0.0	.	216;432	F5H4R7;Q14974	.;IMB1_HUMAN	I	287;432;287;216	ENSP00000438253:V287I;ENSP00000290158:V432I;ENSP00000438964:V287I;ENSP00000445006:V216I	ENSP00000290158:V432I	V	+	1	0	KPNB1	43102112	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.566000	0.73978	2.531000	0.85337	0.650000	0.86243	GTA	0	pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_HEAT_type_2		0.453	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	protein_coding	OTTHUMT00000089755.2	69	157	0	0.00	0	0	G	NM_002265	0	0		45747113	1	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	73	135	9.88	7.53	8	11	SNP	0.998	A
ARMCX4	100131755	genome.wustl.edu	37	X	100748785	100748785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chrX:100748785delC	ENST00000423738.3	+	2	5411	c.5209delC	c.(5209-5211)cctfs	p.P1737fs		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	0						integral component of membrane (GO:0016021)				lung(1)	1						CTGGTTTGGGCCTGGAGCTGA	0.542																																							0											0																																										SO:0001589	frameshift_variant	0			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.5209delC	X.37:g.100748785delC	ENSP00000404304:p.Pro1737fs		A8K928|B3KXA4|Q5H9K8|Q8N8D6	Frame_Shift_Del	DEL	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.P1737fs	ENST00000423738.3	37	c.5209	CCDS59170.1	X																																																																																			0	NULL		0.542	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	protein_coding	OTTHUMT00000370455.2	37	113	0	0.00	0	0	C	NM_001256155	0	0		100748785	1	no_errors	ENST00000423738	ensembl	human	putative	74_37	frame_shift_del	25	94	30.56	13.76	11	15	DEL	0.003	0
MT-ND5	4540	genome.wustl.edu	37	M	12430	12430	+	Missense_Mutation	SNP	T	T	C			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chrM:12430T>C	ENST00000361567.2	+	1	94	c.94T>C	c.(94-96)Tac>Cac	p.Y32H	MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	32					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AAAAAAACTCATACCCCCATT	0.403																																							0											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.94T>C	M.37:g.12430T>C	ENSP00000354813:p.Tyr32His		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.Y32H	ENST00000361567.2	37	c.94		MT																																																																																			0	tigrfam_NADHpl_OxRdtase_5		0.403	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	protein_coding		20	0	0	0.00	0	0	T	YP_003024036	0	0		12430	1	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	11	0	35.29	0.00	6	0	SNP	NULL	C
CROCCP3	114819	genome.wustl.edu	37	1	16802417	16802417	+	RNA	SNP	C	C	T			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr1:16802417C>T	ENST00000263511.4	-	0	2578					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCATAGGGAGCCCTCCAGGCC	0.701																																							0											0																																												0			AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16802417C>T			Q96PW6	RNA	SNP	0	NULL	ENST00000263511.4	37	NULL		1																																																																																			0	0		0.701	CROCCP3-002	KNOWN	basic	processed_transcript	CROCCP3	pseudogene	OTTHUMT00000458172.1	14	9	0	0.00	0	0	C	XM_057040	0	0		16802417	-1	no_errors	ENST00000263511	ensembl	human	known	74_37	rna	14	7	22.22	0.00	4	0	SNP	0.999	T
PTPRG	5793	genome.wustl.edu	37	3	61547552	61547552	+	5'Flank	DEL	C	C	-			TCGA-XU-A92U-01A-11D-A423-09	TCGA-XU-A92U-10A-01D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	31558b0b-c02e-4e5c-8a8e-cae0e043b498	c159aac6-084e-4688-a28e-694a2f6b54b7	g.chr3:61547552delC	ENST00000474889.1	+	0	0				PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_5'Flank	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G						brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		cccgccgccgcccgccggcTC	0.761																																							0											0																																										SO:0001631	upstream_gene_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660		3.37:g.61547552delC	Exception_encountered		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	RNA	DEL	0	NULL	ENST00000474889.1	37	NULL	CCDS2895.1	3																																																																																			0	0		0.761	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	11	11	0	0.00	0	0	C	NM_002841	0	0		61547552	1	no_errors	ENST00000475527	ensembl	human	known	74_37	rna	4	10	33.33	0.00	2	0	DEL	1	0
