#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AXDND1	126859	genome.wustl.edu	37	1	179399655	179399655	+	Silent	SNP	A	A	G			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr1:179399655A>G	ENST00000367618.3	+	14	1788	c.1401A>G	c.(1399-1401)aaA>aaG	p.K467K	AXDND1_ENST00000457238.2_Silent_p.K467K|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	467										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATAAACTTAAACAAGAGGTAG	0.358																																						dbGAP											0													94.0	91.0	92.0					1																	179399655		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.1401A>G	1.37:g.179399655A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	pfam_Axonemal_dynein_light_chain	p.K467	ENST00000367618.3	37	c.1401	CCDS30948.1	1																																																																																			AXDND1	-	NULL	ENSG00000162779		0.358	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1	156	0.00	0	A	NM_144696		179399655	179399655	+1	no_errors	ENST00000367618	ensembl	human	known	69_37n	silent	192	43.40	148	SNP	0.938	G
C9orf170	401535	genome.wustl.edu	37	9	89771612	89771612	+	Missense_Mutation	SNP	G	G	T	rs374885744		TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr9:89771612G>T	ENST00000375941.2	+	2	380	c.293G>T	c.(292-294)cGg>cTg	p.R98L		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	98										large_intestine(3)|lung(2)|prostate(1)	6						GATGTCACTCGGGAAGACCAT	0.398																																						dbGAP											0													83.0	81.0	82.0					9																	89771612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.293G>T	9.37:g.89771612G>T	ENSP00000365108:p.Arg98Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.R98L	ENST00000375941.2	37	c.293	CCDS35058.1	9	.	.	.	.	.	.	.	.	.	.	G	2.018	-0.425341	0.04701	.	.	ENSG00000204446	ENST00000375941	.	.	.	1.93	0.753	0.18404	.	.	.	.	.	T	0.16599	0.0399	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.20174	-1.0283	8	0.87932	D	0	.	3.5524	0.07851	0.7812:0.0:0.2188:0.0	.	98	A2RU37	CI170_HUMAN	L	98	.	ENSP00000365108:R98L	R	+	2	0	C9orf170	88961432	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.270000	0.08584	0.199000	0.20427	-0.474000	0.04947	CGG	C9orf170	-	NULL	ENSG00000204446		0.398	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf170	HGNC	protein_coding	OTTHUMT00000356346.1	211	0.00	0	G	NM_001001709		89771612	89771612	+1	no_errors	ENST00000375941	ensembl	human	known	69_37n	missense	26	80.74	109	SNP	0.001	T
COL1A2	1278	genome.wustl.edu	37	7	94052368	94052368	+	Missense_Mutation	SNP	G	G	A	rs72658193		TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr7:94052368G>A	ENST00000297268.6	+	40	2974	c.2503G>A	c.(2503-2505)Ggt>Agt	p.G835S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	835			G -> C (in OI3). {ECO:0000269|PubMed:16879195}.|G -> S (in OI1). {ECO:0000269|PubMed:8829649}.|Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGAGAAGTAGGTGCAGTTGG	0.562										HNSCC(75;0.22)																												dbGAP											0			GRCh37	CM960328	COL1A2	M	rs72658193						152.0	140.0	144.0					7																	94052368		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2503G>A	7.37:g.94052368G>A	ENSP00000297268:p.Gly835Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.G835S	ENST00000297268.6	37	c.2503	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915145	0.92178	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99483	-5.99	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.99691	0.9883	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97588	1.0115	10	0.87932	D	0	.	19.1875	0.93649	0.0:0.0:1.0:0.0	.	835	P08123	CO1A2_HUMAN	S	835;836	ENSP00000297268:G835S	ENSP00000297268:G835S	G	+	1	0	COL1A2	93890304	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	8.011000	0.88624	2.614000	0.88457	0.563000	0.77884	GGT	COL1A2	-	NULL	ENSG00000164692		0.562	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	121	0.00	0	G	NM_000089		94052368	94052368	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	missense	11	81.03	47	SNP	1.000	A
EMC2	9694	genome.wustl.edu	37	8	109498777	109498777	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr8:109498777C>G	ENST00000220853.3	+	11	879	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	EMC2_ENST00000520294.1_3'UTR	NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	282						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CAAATATTCTCTTAAGGCTGT	0.338																																						dbGAP											0													77.0	76.0	77.0					8																	109498777		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.844C>G	8.37:g.109498777C>G	ENSP00000220853:p.Leu282Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUE1	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L282V	ENST00000220853.3	37	c.844	CCDS6309.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.244|2.244	-0.373223|-0.373223	0.05034|0.05034	.|.	.|.	ENSG00000104412|ENSG00000104412	ENST00000220853|ENST00000519642	.|.	.|.	.|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.123667|.	0.56097|.	D|.	0.000036|.	T|T	0.32010|0.32010	0.0815|0.0815	N|N	0.04043|0.04043	-0.29|-0.29	0.45118|0.45118	D|D	0.99813|0.99813	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.24368|0.24368	-1.0162|-1.0162	9|5	0.14656|.	T|.	0.56|.	-4.2472|-4.2472	9.9854|9.9854	0.41839|0.41839	0.0:0.8147:0.0:0.1853|0.0:0.8147:0.0:0.1853	.|.	282|.	Q15006|.	TTC35_HUMAN|.	V|C	282|130	.|.	ENSP00000220853:L282V|.	L|S	+|+	1|2	0|0	TTC35|TTC35	109567953|109567953	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.054000|1.054000	0.30455|0.30455	2.817000|2.817000	0.96982|0.96982	0.563000|0.563000	0.77884|0.77884	CTT|TCT	EMC2	-	NULL	ENSG00000104412		0.338	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC2	HGNC	protein_coding	OTTHUMT00000380717.1	162	0.61	1	C	NM_014673		109498777	109498777	+1	no_errors	ENST00000220853	ensembl	human	known	69_37n	missense	92	14.02	15	SNP	1.000	G
FAM227B	196951	genome.wustl.edu	37	15	49880251	49880251	+	Missense_Mutation	SNP	C	C	T	rs554720443		TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr15:49880251C>T	ENST00000299338.6	-	5	670	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	FAM227B_ENST00000558594.1_Missense_Mutation_p.E123K|FAM227B_ENST00000558862.1_5'Flank|FAM227B_ENST00000560246.1_Missense_Mutation_p.E123K|FAM227B_ENST00000561064.1_Missense_Mutation_p.E123K	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	123																	TTTAGAAATTCCCCATATCGT	0.249																																						dbGAP											0													60.0	63.0	62.0					15																	49880251		2193	4273	6466	-	-	-	SO:0001583	missense	0				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.367G>A	15.37:g.49880251C>T	ENSP00000299338:p.Glu123Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86WS2	Missense_Mutation	SNP	NULL	p.E123K	ENST00000299338.6	37	c.367	CCDS32237.1	15	.	.	.	.	.	.	.	.	.	.	C	0.675	-0.800574	0.02841	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	2.5	-0.458	0.12182	.	1.906300	0.02665	N	0.107939	T	0.12860	0.0312	N	0.01352	-0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16988	-1.0384	9	0.13853	T	0.58	-2.8429	5.1074	0.14790	0.0:0.5477:0.0:0.4523	.	123;123	Q96M60-2;Q96M60	.;CO033_HUMAN	K	123	.	ENSP00000299338:E123K	E	-	1	0	C15orf33	47667543	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.349000	0.07731	-0.106000	0.12110	-0.948000	0.02665	GAA	FAM227B	-	NULL	ENSG00000166262		0.249	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	515	0.00	0	C	NM_152647		49880251	49880251	-1	no_errors	ENST00000299338	ensembl	human	known	69_37n	missense	201	35.99	113	SNP	0.002	T
GANAB	23193	genome.wustl.edu	37	11	62396766	62396766	+	Splice_Site	SNP	T	T	C			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr11:62396766T>C	ENST00000356638.3	-	16	1852	c.1836A>G	c.(1834-1836)ggA>ggG	p.G612G	GANAB_ENST00000346178.4_Splice_Site_p.G634G|GANAB_ENST00000540933.1_Splice_Site_p.G515G|GANAB_ENST00000534779.1_Splice_Site_p.G520G	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	612					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TCCACACGGCTCCTGAGGAAG	0.552																																					Melanoma(23;1005 1074 15747 18937)	dbGAP											0													75.0	69.0	71.0					11																	62396766		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1835-1A>G	11.37:g.62396766T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.G634	ENST00000356638.3	37	c.1902	CCDS8026.1	11																																																																																			GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000089597		0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	41	0.00	0	T	NM_198334	Silent	62396766	62396766	-1	no_errors	ENST00000346178	ensembl	human	known	69_37n	silent	69	38.94	44	SNP	1.000	C
GJB6	10804	genome.wustl.edu	37	13	20797608	20797608	+	Silent	SNP	C	C	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr13:20797608C>A	ENST00000356192.6	-	5	632	c.12G>T	c.(10-12)ggG>ggT	p.G4G	GJB6_ENST00000400066.3_Silent_p.G4G|GJB6_ENST00000400065.3_Silent_p.G4G|GJB6_ENST00000241124.6_Silent_p.G4G	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	4					apoptotic process (GO:0006915)|cell communication (GO:0007154)|ear morphogenesis (GO:0042471)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|sensory perception of sound (GO:0007605)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TGTGCAGCGTCCCCCAATCCA	0.488																																						dbGAP											0													103.0	97.0	99.0					13																	20797608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ005585	CCDS9291.1	13q12	2010-01-06	2007-11-06		ENSG00000121742	ENSG00000121742		"""Ion channels / Gap junction proteins (connexins)"""	4288	protein-coding gene	gene with protein product	"""connexin 30"""	604418	"""ectodermal dysplasia 2, hidrotic (Clouston syndrome)"", ""gap junction protein, beta 6 (connexin 30)"", ""gap junction protein, beta 6"""	DFNA3, ED2		10471490, 8845850	Standard	NM_006783		Approved	EDH, HED, CX30	uc001und.4	O95452	OTTHUMG00000016515	ENST00000356192.6:c.12G>T	13.37:g.20797608C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN2|Q5Q1H9|Q5Q1I0|Q5Q1I1|Q5T5U0|Q8IUP0	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.G4	ENST00000356192.6	37	c.12	CCDS9291.1	13																																																																																			GJB6	-	pfam_Connexin_N	ENSG00000121742		0.488	GJB6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB6	HGNC	protein_coding	OTTHUMT00000272906.1	164	0.00	0	C			20797608	20797608	-1	no_errors	ENST00000241124	ensembl	human	known	69_37n	silent	135	19.16	32	SNP	0.000	A
HS6ST2	90161	genome.wustl.edu	37	X	131762771	131762771	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chrX:131762771A>C	ENST00000370836.2	-	4	1713	c.1298T>G	c.(1297-1299)cTc>cGc	p.L433R	HS6ST2_ENST00000521489.1_Missense_Mutation_p.L473R|HS6ST2_ENST00000370833.2_Missense_Mutation_p.L327R|HS6ST2_ENST00000406696.3_Missense_Mutation_p.L159R	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	433					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAACTCAGTGAGGCCGAAGAA	0.448																																						dbGAP											0													88.0	85.0	86.0					X																	131762771		1945	4138	6083	-	-	-	SO:0001583	missense	0			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1298T>G	X.37:g.131762771A>C	ENSP00000359873:p.Leu433Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L473R	ENST00000370836.2	37	c.1418	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510923	0.64522	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.90003	0.6879	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91905	0.5535	10	0.87932	D	0	-3.6371	14.5447	0.68020	1.0:0.0:0.0:0.0	.	433;473;159	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	R	287;433;473;159;327	ENSP00000359874:L287R;ENSP00000359873:L433R;ENSP00000429473:L473R;ENSP00000384013:L159R;ENSP00000359870:L327R	ENSP00000359870:L327R	L	-	2	0	HS6ST2	131590452	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.034000	0.60081	0.486000	0.48141	CTC	HS6ST2	-	pfam_Sulfotransferase	ENSG00000171004		0.448	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	310	0.00	0	A	NM_147174		131762771	131762771	-1	no_errors	ENST00000521489	ensembl	human	known	69_37n	missense	43	76.50	140	SNP	1.000	C
KCNQ2	3785	genome.wustl.edu	37	20	62073861	62073861	+	Silent	SNP	G	G	T	rs147882199	byFrequency	TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr20:62073861G>T	ENST00000359125.2	-	5	888	c.714C>A	c.(712-714)atC>atA	p.I238I	KCNQ2_ENST00000359689.1_Silent_p.I238I|KCNQ2_ENST00000360480.3_Silent_p.I238I|KCNQ2_ENST00000354587.3_Silent_p.I238I|KCNQ2_ENST00000344425.5_Silent_p.I238I|KCNQ2_ENST00000370224.1_Silent_p.I238I|KCNQ2_ENST00000344462.4_Silent_p.I238I|KCNQ2_ENST00000357249.2_Silent_p.I238I	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	238					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AAAGGAAGCCGATGTACCAGG	0.582																																						dbGAP											0													311.0	226.0	255.0					20																	62073861		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.714C>A	20.37:g.62073861G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.I238	ENST00000359125.2	37	c.714	CCDS13520.1	20																																																																																			KCNQ2	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000075043		0.582	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	63	0.00	0	G	NM_172109		62073861	62073861	-1	no_errors	ENST00000354587	ensembl	human	known	69_37n	silent	56	41.05	39	SNP	0.997	T
LPHN2	23266	genome.wustl.edu	37	1	82445611	82445611	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr1:82445611T>A	ENST00000370728.1	+	20	3713	c.3068T>A	c.(3067-3069)tTg>tAg	p.L1023*	LPHN2_ENST00000370715.1_Nonsense_Mutation_p.L1010*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.L1023*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.L1010*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.L948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.L1010*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.L1023*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.L1023*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.L1010*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.L1010*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.L1010*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.L1023*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.L1023*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.L1023*			O95490	LPHN2_HUMAN	latrophilin 2	1023					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAAACACTTTGAAACCAGAT	0.308																																						dbGAP											0													89.0	88.0	88.0					1																	82445611		2203	4294	6497	-	-	-	SO:0001587	stop_gained	0			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3068T>A	1.37:g.82445611T>A	ENSP00000359763:p.Leu1023*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.L1023*	ENST00000370728.1	37	c.3068		1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	49|49|49	15.198938|15.198938|15.198938	0.99826|0.99826|0.99826	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	.|.|.	.|.|.	.|.|.	5.98|5.98|5.98	5.98|5.98|5.98	0.97165|0.97165|0.97165	.|.|.	.|0.074926|.	.|0.56097|.	.|D|.	.|0.000037|.	T|.|.	0.66366|.|.	0.2782|.|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|.	0.66488|.|.	-0.5911|.|.	3|.|.	.|0.02654|.	.|T|.	.|1|.	.|.|.	16.4696|16.4696|16.4696	0.84102|0.84102|0.84102	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|.|.	.|.|.	.|.|.	L|X|R	13|948;1023;1023;1023;1023;1010;1010;1010;1010;1010;1023;1010;1023;1023|891	.|.|.	.|ENSP00000271029:L1023X|.	F|L|X	+|+|+	3|2|1	2|0|0	LPHN2|LPHN2|LPHN2	82218199|82218199|82218199	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.989000|0.989000|0.989000	0.77384|0.77384|0.77384	7.698000|7.698000|7.698000	0.84413|0.84413|0.84413	2.289000|2.289000|2.289000	0.77006|0.77006|0.77006	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	TTT|TTG|TGA	LPHN2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000117114		0.308	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	182	0.00	0	T	NM_012302		82445611	82445611	+1	no_errors	ENST00000370717	ensembl	human	known	69_37n	nonsense	13	74.55	41	SNP	1.000	A
LRRC37A6P	387646	genome.wustl.edu	37	10	27536596	27536596	+	lincRNA	SNP	T	T	C			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr10:27536596T>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTCCACCTCTTTGAAGTGCCT	0.532																																						dbGAP											0																																										-	-	-			0																															10.37:g.27536596T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-	ENSG00000230445		0.532	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	53	0.00	0	T			27536596	27536596	-1	no_errors	ENST00000284414	ensembl	human	known	69_37n	rna	42	38.24	26	SNP	0.016	C
MYNN	55892	genome.wustl.edu	37	3	169492273	169492273	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr3:169492273G>T	ENST00000349841.5	+	2	853	c.190G>T	c.(190-192)Gat>Tat	p.D64Y	MYNN_ENST00000356716.4_Missense_Mutation_p.D64Y|RP11-816J6.3_ENST00000602879.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.D64Y|MYNN_ENST00000392733.1_Missense_Mutation_p.D64Y|RP11-362K14.5_ENST00000602342.1_RNA	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TGTCTTTCTTGATCAGAGTCA	0.388																																						dbGAP											0													142.0	138.0	140.0					3																	169492273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.190G>T	3.37:g.169492273G>T	ENSP00000326240:p.Asp64Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D64Y	ENST00000349841.5	37	c.190	CCDS3207.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880606	0.91740	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.7	5.7	0.88788	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.82825	0.5121	M	0.73753	2.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.83914	0.0297	10	0.87932	D	0	.	19.8481	0.96728	0.0:0.0:1.0:0.0	.	64;64	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	Y	64	ENSP00000349150:D64Y;ENSP00000326240:D64Y;ENSP00000376492:D64Y;ENSP00000440637:D64Y	ENSP00000326240:D64Y	D	+	1	0	MYNN	170974967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.713000	0.74686	2.705000	0.92388	0.650000	0.86243	GAT	MYNN	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000085274		0.388	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYNN	HGNC	protein_coding	OTTHUMT00000467801.1	108	0.92	1	G	NM_018657		169492273	169492273	+1	no_errors	ENST00000349841	ensembl	human	known	69_37n	missense	56	41.84	41	SNP	1.000	T
NBEAL1	65065	genome.wustl.edu	37	2	204045211	204045211	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr2:204045211C>G	ENST00000449802.1	+	42	6817	c.6484C>G	c.(6484-6486)Cca>Gca	p.P2162A		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2162	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTCTATTTCCCAGAGTTTTT	0.368																																						dbGAP											0													64.0	60.0	62.0					2																	204045211		1804	4065	5869	-	-	-	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6484C>G	2.37:g.204045211C>G	ENSP00000399903:p.Pro2162Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P2162A	ENST00000449802.1	37	c.6484	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892255	0.91889	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.80824	-1.42;-1.42	5.85	5.85	0.93711	BEACH domain (4);	0.049448	0.85682	D	0.000000	D	0.93556	0.7943	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94867	0.8027	10	0.87932	D	0	.	19.7681	0.96350	0.0:1.0:0.0:0.0	.	2162;2151	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	A	2162;2162;177	ENSP00000399903:P2162A;ENSP00000388466:P177A	ENSP00000344985:P2162A	P	+	1	0	NBEAL1	203753456	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.776000	0.85560	2.768000	0.95171	0.655000	0.94253	CCA	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000144426		0.368	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	71	0.00	0	C			204045211	204045211	+1	no_errors	ENST00000449802	ensembl	human	known	69_37n	missense	33	40.00	22	SNP	1.000	G
NINL	22981	genome.wustl.edu	37	20	25493495	25493495	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr20:25493495C>T	ENST00000278886.6	-	4	498	c.425G>A	c.(424-426)cGc>cAc	p.R142H	NINL_ENST00000422516.1_Missense_Mutation_p.R142H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	142					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGACGCTGAGCGCCAGAGGTG	0.607																																						dbGAP											0													41.0	45.0	44.0					20																	25493495		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.425G>A	20.37:g.25493495C>T	ENSP00000278886:p.Arg142His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R142H	ENST00000278886.6	37	c.425	CCDS33452.1	20	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422100	0.25639	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.25250	1.81;1.81	5.17	1.93	0.25924	.	0.210963	0.40640	N	0.001052	T	0.18635	0.0447	L	0.46885	1.475	0.09310	N	1	B;B	0.31274	0.054;0.317	B;B	0.20955	0.007;0.032	T	0.10965	-1.0607	10	0.40728	T	0.16	-2.1027	9.4441	0.38686	0.0:0.7473:0.0:0.2527	.	142;142	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	H	142	ENSP00000278886:R142H;ENSP00000410431:R142H	ENSP00000278886:R142H	R	-	2	0	NINL	25441495	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.805000	0.27112	0.258000	0.21686	0.650000	0.86243	CGC	NINL	-	NULL	ENSG00000101004		0.607	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	18	0.00	0	C	NM_025176		25493495	25493495	-1	no_errors	ENST00000278886	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.003	T
PLA2G4F	255189	genome.wustl.edu	37	15	42438328	42438328	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr15:42438328C>A	ENST00000382396.4	-	14	1617	c.1531G>T	c.(1531-1533)Gca>Tca	p.A511S	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.A513S			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	511	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAGGCACCTGCAAAATCTTCC	0.592																																						dbGAP											0													89.0	73.0	78.0					15																	42438328		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1531G>T	15.37:g.42438328C>A	ENSP00000371833:p.Ala511Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMC8	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.A513S	ENST00000382396.4	37	c.1537	CCDS32204.1	15	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499165	0.64298	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.12569	2.67;2.67	5.08	5.08	0.68730	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.215035	0.32819	N	0.005618	T	0.18341	0.0440	L	0.50333	1.59	0.46927	D	0.999253	B;P	0.36974	0.433;0.576	B;B	0.38921	0.21;0.285	T	0.01557	-1.1325	10	0.35671	T	0.21	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	298;511	A2RRC4;Q68DD2	.;PA24F_HUMAN	S	507;513;511;511	ENSP00000380442:A513S;ENSP00000371833:A511S	ENSP00000290497:A507S	A	-	1	0	PLA2G4F	40225620	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	1.021000	0.30040	2.763000	0.94921	0.650000	0.86243	GCA	PLA2G4F	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000168907		0.592	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4F	HGNC	protein_coding	OTTHUMT00000420463.1	31	0.00	0	C	NM_213600		42438328	42438328	-1	no_errors	ENST00000397272	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	A
POLR3GL	84265	genome.wustl.edu	37	1	145457308	145457308	+	Splice_Site	SNP	C	C	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr1:145457308C>A	ENST00000369314.1	-	6	490	c.384G>T	c.(382-384)cgG>cgT	p.R128R	POLR3GL_ENST00000369313.3_Splice_Site_p.R105R	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	128					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAATTGTAATCCCTGGTGGAG	0.473																																						dbGAP											0													109.0	107.0	108.0					1																	145457308		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.383-1G>T	1.37:g.145457308C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1MVG5	Silent	SNP	pfam_RNA_pol_III_Rpc31	p.R128	ENST00000369314.1	37	c.384	CCDS914.1	1																																																																																			POLR3GL	-	pfam_RNA_pol_III_Rpc31	ENSG00000121851		0.473	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3GL	HGNC	protein_coding	OTTHUMT00000038510.1	101	0.00	0	C	NM_032305	Silent	145457308	145457308	-1	no_errors	ENST00000369314	ensembl	human	known	69_37n	silent	166	20.57	43	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48840380	48840380	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr8:48840380G>A	ENST00000314191.2	-	20	2266	c.2210C>T	c.(2209-2211)cCa>cTa	p.P737L	PRKDC_ENST00000338368.3_Missense_Mutation_p.P737L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	737					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GATGTTGTGTGGCAAGGACAG	0.433								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													131.0	138.0	136.0					8																	48840380		2003	4162	6165	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2210C>T	8.37:g.48840380G>A	ENSP00000313420:p.Pro737Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P737L	ENST00000314191.2	37	c.2210		8	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568395	0.65651	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.10860	2.86;2.83	5.35	5.35	0.76521	Armadillo-type fold (1);	0.070602	0.64402	D	0.000013	T	0.37156	0.0993	.	.	.	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.741	D;D;B	0.78314	0.991;0.965;0.354	T	0.11842	-1.0571	9	0.72032	D	0.01	.	19.4178	0.94709	0.0:0.0:1.0:0.0	.	737;737;737	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	L	737	ENSP00000313420:P737L;ENSP00000345182:P737L	ENSP00000313420:P737L	P	-	2	0	PRKDC	49002933	1.000000	0.71417	0.970000	0.41538	0.304000	0.27724	6.799000	0.75160	2.655000	0.90218	0.563000	0.77884	CCA	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.433	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		42	0.00	0	G	NM_001081640		48840380	48840380	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	7	73.08	19	SNP	1.000	A
RNF128	79589	genome.wustl.edu	37	X	105937248	105937248	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chrX:105937248A>G	ENST00000324342.3	+	1	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CCAGGAGAATAGGTCCAGTTT	0.348																																						dbGAP											0													66.0	70.0	69.0					X																	105937248		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.16A>G	X.37:g.105937248A>G	ENSP00000316127:p.Arg6Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R6G	ENST00000324342.3	37	c.16	CCDS14520.1	X	.	.	.	.	.	.	.	.	.	.	A	1.984	-0.433331	0.04669	.	.	ENSG00000133135	ENST00000324342	T	0.10573	2.86	6.03	6.03	0.97812	.	.	.	.	.	T	0.08935	0.0221	.	.	.	0.23449	N	0.997654	B	0.06786	0.001	B	0.09377	0.004	T	0.22487	-1.0215	8	0.39692	T	0.17	.	9.6281	0.39763	0.8422:0.0:0.0:0.1578	.	6	Q8TEB7-2	.	G	6	ENSP00000316127:R6G	ENSP00000316127:R6G	R	+	1	2	RNF128	105823904	0.902000	0.30710	0.006000	0.13384	0.006000	0.05464	3.053000	0.49901	2.038000	0.60285	0.486000	0.48141	AGG	RNF128	-	NULL	ENSG00000133135		0.348	RNF128-002	KNOWN	basic|CCDS	protein_coding	RNF128	HGNC	protein_coding	OTTHUMT00000057805.1	313	0.00	0	A	NM_024539		105937248	105937248	+1	no_errors	ENST00000324342	ensembl	human	known	69_37n	missense	35	76.35	113	SNP	0.005	G
RNF219	79596	genome.wustl.edu	37	13	79190282	79190282	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr13:79190282G>C	ENST00000282003.6	-	6	1672	c.1614C>G	c.(1612-1614)atC>atG	p.I538M	RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	538	Ser-rich.						zinc ion binding (GO:0008270)	p.I538I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CCAACTCAGAGATTTTGTCAA	0.398																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											138.0	139.0	139.0					13																	79190282		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1614C>G	13.37:g.79190282G>C	ENSP00000282003:p.Ile538Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.I538M	ENST00000282003.6	37	c.1614	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306229	0.40795	.	.	ENSG00000152193	ENST00000282003	T	0.14144	2.53	5.86	3.2	0.36748	.	0.000000	0.64402	D	0.000002	T	0.15825	0.0381	L	0.56769	1.78	0.34437	D	0.699161	D	0.53312	0.959	P	0.47044	0.535	T	0.24119	-1.0169	10	0.87932	D	0	-22.1876	3.9445	0.09343	0.349:0.1721:0.4789:0.0	.	538	Q5W0B1	RN219_HUMAN	M	538	ENSP00000282003:I538M	ENSP00000282003:I538M	I	-	3	3	RNF219	78088283	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.250000	0.32850	0.819000	0.34492	0.655000	0.94253	ATC	RNF219	-	NULL	ENSG00000152193		0.398	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	287	0.35	1	G	NM_024546		79190282	79190282	-1	no_errors	ENST00000282003	ensembl	human	known	69_37n	missense	48	70.00	112	SNP	1.000	C
SLC28A2	9153	genome.wustl.edu	37	15	45560544	45560544	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr15:45560544G>A	ENST00000347644.3	+	13	1401	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	446					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CTGGCTGGGGGAATTGGTGGA	0.512																																					NSCLC(92;493 1501 26361 28917 47116)	dbGAP											0													151.0	143.0	146.0					15																	45560544		2198	4298	6496	-	-	-	SO:0001583	missense	0			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1336G>A	15.37:g.45560544G>A	ENSP00000315006:p.Glu446Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.E446K	ENST00000347644.3	37	c.1336	CCDS10121.1	15	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432824	0.62844	.	.	ENSG00000137860	ENST00000347644	T	0.06687	3.27	5.8	2.83	0.33086	Na dependent nucleoside transporter, C-terminal (1);	0.195931	0.53938	D	0.000054	T	0.11580	0.0282	L	0.54908	1.71	0.37340	D	0.910363	P	0.47191	0.891	P	0.47346	0.544	T	0.16070	-1.0415	10	0.30854	T	0.27	-8.0261	9.5334	0.39207	0.0745:0.269:0.6565:0.0	.	446	O43868	S28A2_HUMAN	K	446	ENSP00000315006:E446K	ENSP00000315006:E446K	E	+	1	0	SLC28A2	43347836	1.000000	0.71417	0.460000	0.27093	0.611000	0.37282	3.908000	0.56355	0.345000	0.23873	-0.304000	0.09214	GAA	SLC28A2	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac	ENSG00000137860		0.512	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A2	HGNC	protein_coding	OTTHUMT00000254219.2	96	0.00	0	G	NM_004212		45560544	45560544	+1	no_errors	ENST00000347644	ensembl	human	known	69_37n	missense	85	45.51	71	SNP	0.891	A
TRIM60	166655	genome.wustl.edu	37	4	165961589	165961589	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr4:165961589C>A	ENST00000512596.1	+	3	581	c.365C>A	c.(364-366)tCc>tAc	p.S122Y	TRIM60_ENST00000508504.1_Missense_Mutation_p.S122Y|TRIM60_ENST00000341062.5_Missense_Mutation_p.S122Y	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	122						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TGCAGTTTCTCCACTAAACAC	0.403																																						dbGAP											0													70.0	69.0	70.0					4																	165961589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.365C>A	4.37:g.165961589C>A	ENSP00000421142:p.Ser122Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NA35	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S122Y	ENST00000512596.1	37	c.365	CCDS3808.1	4	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278929	0.40294	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.46063	0.88;0.88;0.88	2.49	2.49	0.30216	Zinc finger, B-box (3);	0.174720	0.26055	U	0.026608	T	0.68705	0.3030	M	0.93507	3.425	0.09310	N	1	D	0.59357	0.985	D	0.69142	0.962	T	0.61491	-0.7052	10	0.72032	D	0.01	.	11.105	0.48197	0.0:1.0:0.0:0.0	.	122	Q495X7	TRI60_HUMAN	Y	122	ENSP00000421142:S122Y;ENSP00000426496:S122Y;ENSP00000343765:S122Y	ENSP00000343765:S122Y	S	+	2	0	TRIM60	166181039	0.000000	0.05858	0.213000	0.23690	0.237000	0.25408	0.983000	0.29552	1.694000	0.51137	0.655000	0.94253	TCC	TRIM60	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000176979		0.403	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM60	HGNC	protein_coding	OTTHUMT00000364325.1	68	0.00	0	C	NM_152620		165961589	165961589	+1	no_errors	ENST00000341062	ensembl	human	known	69_37n	missense	46	48.31	43	SNP	0.032	A
WBSCR16	81554	genome.wustl.edu	37	7	74482534	74482534	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A099-01A-11W-A019-09	TCGA-A8-A099-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1066cb38-e051-42fa-a8bc-20b659c17a13	f683d650-e338-4347-a0a3-b7e28cb096f8	g.chr7:74482534C>A	ENST00000329959.4	-	3	581	c.526G>T	c.(526-528)Gtg>Ttg	p.V176L	WBSCR16_ENST00000543840.1_Missense_Mutation_p.V176L|WBSCR16_ENST00000503250.2_Missense_Mutation_p.V176L	NM_030798.3	NP_110425.2	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	176							poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACCTGCAGCACCCGTGTCTCC	0.577																																						dbGAP											0													81.0	68.0	72.0					7																	74482534		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF410455	CCDS5577.1, CCDS64683.1, CCDS64684.1	7q11.23	2008-08-14			ENSG00000174374	ENSG00000274523			14948	protein-coding gene	gene with protein product						12073013	Standard	NM_030798		Approved		uc003ubr.3	Q96I51	OTTHUMG00000130373	ENST00000329959.4:c.526G>T	7.37:g.74482534C>A	ENSP00000333799:p.Val176Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXK0|F5GX55|F5H6C7|Q548B1|Q8IW88|Q8N572|Q9H0G7	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V176L	ENST00000329959.4	37	c.526	CCDS5577.1	7	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949704	0.92660	.	.	ENSG00000174374	ENST00000503250;ENST00000329959;ENST00000543840;ENST00000455375	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.87	4.87	0.63330	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.93510	0.7929	M	0.72353	2.195	0.80722	D	1	D;D	0.65815	0.992;0.995	D;D	0.68039	0.911;0.955	D	0.93988	0.7264	10	0.66056	D	0.02	-29.9808	16.7698	0.85534	0.0:1.0:0.0:0.0	.	176;176	F5H6C7;Q96I51	.;WBS16_HUMAN	L	176;176;176;103	ENSP00000437702:V176L;ENSP00000333799:V176L;ENSP00000441127:V176L;ENSP00000407250:V103L	ENSP00000333799:V176L	V	-	1	0	WBSCR16	74120470	1.000000	0.71417	0.945000	0.38365	0.870000	0.49936	5.523000	0.67099	2.536000	0.85505	0.561000	0.74099	GTG	WBSCR16	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000174374		0.577	WBSCR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR16	HGNC	protein_coding	OTTHUMT00000252740.1	23	0.00	0	C	NM_030798		74482534	74482534	-1	no_errors	ENST00000329959	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	1.000	A
