#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
TTC23	64927	genome.wustl.edu	37	15	99759242	99759242	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr15:99759242G>T	ENST00000394132.2	-	7	1133	c.316C>A	c.(316-318)Caa>Aaa	p.Q106K	TTC23_ENST00000394129.2_Missense_Mutation_p.Q106K|TTC23_ENST00000394130.1_Missense_Mutation_p.Q106K|TTC23_ENST00000394135.3_Missense_Mutation_p.Q106K|TTC23_ENST00000262074.4_Missense_Mutation_p.Q106K|TTC23_ENST00000558663.1_Missense_Mutation_p.Q106K|TTC23_ENST00000558613.1_Missense_Mutation_p.Q106K|TTC23_ENST00000394136.1_Missense_Mutation_p.Q106K			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	106										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGTTTTGCTTGCAGTGACAGT	0.423													ENSG00000103852																																					0													210.0	201.0	204.0					15																	99759242		2197	4297	6494	SO:0001583	missense	0			-		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.316C>A	15.37:g.99759242G>T	ENSP00000377690:p.Gln106Lys		A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Missense_Mutation	SNP	smart_TPR_repeat	p.Q106K	ENST00000394132.2	37	c.316	CCDS10379.2	15	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118126	0.56505	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);	0.152963	0.44483	D	0.000460	T	0.41328	0.1154	M	0.83483	2.645	0.38641	D	0.951616	P;P	0.39282	0.573;0.666	B;B	0.32677	0.15;0.125	T	0.46190	-0.9209	10	0.11794	T	0.64	-18.6369	13.7281	0.62769	0.0:0.0:1.0:0.0	.	106;106	Q5W5X9-2;Q5W5X9	.;TTC23_HUMAN	K	106	ENSP00000377690:Q106K;ENSP00000377693:Q106K;ENSP00000262074:Q106K;ENSP00000377692:Q106K;ENSP00000377688:Q106K;ENSP00000457901:Q106K	ENSP00000262074:Q106K	Q	-	1	0	TTC23	97576765	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.456000	0.66665	2.618000	0.88619	0.655000	0.94253	CAA	-	TTC23	-	smart_TPR_repeat		0.423	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC23	HGNC	protein_coding	OTTHUMT00000303953.2	0	0	0	18	18	62	0.00	0.00	G	NM_022905		99759242	-1	15	31	46	114	tier1	no_errors	ENST00000262074	ensembl	human	known	74_37	missense	24.59	21.23	SNP	0.998	T	15	46
TRAF7	84231	genome.wustl.edu	37	16	2225556	2225556	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr16:2225556A>G	ENST00000326181.6	+	17	1691	c.1559A>G	c.(1558-1560)aAc>aGc	p.N520S		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	520					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						ACAGGCCTCAACCACTGGGTG	0.642													ENSG00000131653																																					0													78.0	77.0	77.0					16																	2225556		2198	4300	6498	SO:0001583	missense	0			-	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1559A>G	16.37:g.2225556A>G	ENSP00000318944:p.Asn520Ser		Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N520S	ENST00000326181.6	37	c.1559	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	A	21.0	4.075103	0.76415	.	.	ENSG00000131653	ENST00000326181	T	0.58652	0.32	4.49	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.47078	1.49	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61787	-0.6991	10	0.19590	T	0.45	-55.8238	13.3899	0.60818	1.0:0.0:0.0:0.0	.	520	Q6Q0C0	TRAF7_HUMAN	S	520	ENSP00000318944:N520S	ENSP00000318944:N520S	N	+	2	0	TRAF7	2165557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.237000	0.89807	2.026000	0.59711	0.459000	0.35465	AAC	-	TRAF7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.642	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	0	0	0	13	13	58	0.00	0.00	A	NM_032271		2225556	+1	6	7	17	49	tier1	no_errors	ENST00000326181	ensembl	human	known	74_37	missense	26.09	12.50	SNP	1.000	G	6	17
MON2	23041	genome.wustl.edu	37	12	62949949	62949949	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr12:62949949G>A	ENST00000393632.2	+	25	3777	c.3386G>A	c.(3385-3387)aGa>aAa	p.R1129K	MON2_ENST00000393629.2_Missense_Mutation_p.R1129K|MON2_ENST00000280379.6_Missense_Mutation_p.R1130K|MON2_ENST00000552738.1_Missense_Mutation_p.R1106K|MON2_ENST00000393630.3_Missense_Mutation_p.R1130K|MON2_ENST00000546600.1_Missense_Mutation_p.R1129K	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1129					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCAACACTAGAAGATATTTG	0.373													ENSG00000061987																																					0													71.0	67.0	68.0					12																	62949949		2203	4300	6503	SO:0001583	missense	0			-		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3386G>A	12.37:g.62949949G>A	ENSP00000377252:p.Arg1129Lys		A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold	p.R1130K	ENST00000393632.2	37	c.3389	CCDS31849.1	12	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336872	0.24253	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	N	0.01048	-1.04	0.58432	D	0.999997	B;B;B;B	0.17852	0.004;0.014;0.008;0.024	B;B;B;B	0.20955	0.014;0.025;0.032;0.025	T	0.43845	-0.9366	9	.	.	.	-13.2598	17.895	0.88885	0.0:0.0:1.0:0.0	.	1129;1106;1129;1129	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-4	.;.;.;.	K	1129;1130;1130;1129;1106;1129	ENSP00000377252:R1129K;ENSP00000377250:R1130K;ENSP00000280379:R1130K;ENSP00000447407:R1129K;ENSP00000449215:R1106K;ENSP00000377249:R1129K	.	R	+	2	0	MON2	61236216	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.536000	0.98067	2.305000	0.77605	0.462000	0.41574	AGA	-	MON2	-	superfamily_ARM-type_fold		0.373	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON2	HGNC	protein_coding	OTTHUMT00000406767.3	0	0	0	14	14	69	0.00	0.00	G	NM_015026		62949949	+1	68	151	34	86	tier1	no_errors	ENST00000393630	ensembl	human	known	74_37	missense	66.67	63.71	SNP	1.000	A	68	34
STAB2	55576	genome.wustl.edu	37	12	104092880	104092880	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr12:104092880G>A	ENST00000388887.2	+	34	3793	c.3589G>A	c.(3589-3591)Gac>Aac	p.D1197N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCAGGAGGAGGACGTCCTCCG	0.502													ENSG00000136011																																					0													131.0	106.0	114.0					12																	104092880		2203	4300	6503	SO:0001583	missense	0			-	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3589G>A	12.37:g.104092880G>A	ENSP00000373539:p.Asp1197Asn			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D1197N	ENST00000388887.2	37	c.3589	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401898	0.42613	.	.	ENSG00000136011	ENST00000388887	D	0.90004	-2.6	5.45	3.28	0.37604	FAS1 domain (5);Growth factor, receptor (1);	0.162209	0.52532	D	0.000063	T	0.79275	0.4418	N	0.13327	0.33	0.09310	N	1	B	0.29162	0.235	B	0.32465	0.146	T	0.67162	-0.5740	10	0.25106	T	0.35	.	11.8506	0.52410	0.213:0.0:0.787:0.0	.	1197	Q8WWQ8	STAB2_HUMAN	N	1197	ENSP00000373539:D1197N	ENSP00000373539:D1197N	D	+	1	0	STAB2	102617010	0.998000	0.40836	0.291000	0.24904	0.400000	0.30750	2.652000	0.46682	1.305000	0.44909	0.561000	0.74099	GAC	-	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_FAS1_domain,pfscan_FAS1_domain		0.502	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	0	0	0	36	36	60	0.00	0.00	G			104092880	+1	326	339	77	106	tier1	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	80.89	76.01	SNP	0.018	A	326	77
PLEKHG2	64857	genome.wustl.edu	37	19	39911414	39911414	+	Silent	SNP	C	C	T			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr19:39911414C>T	ENST00000409794.3	+	13	2171	c.1321C>T	c.(1321-1323)Cta>Tta	p.L441L	PLEKHG2_ENST00000458508.2_Silent_p.L382L|PLEKHG2_ENST00000378550.1_Silent_p.L441L|PLEKHG2_ENST00000425673.1_Silent_p.L441L|PLEKHG2_ENST00000409797.2_Silent_p.L441L	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	441					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAAGCCTGTCCTAGAGCCCCT	0.547													ENSG00000090924																																					0													78.0	88.0	85.0					19																	39911414		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1321C>T	19.37:g.39911414C>T			B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L441	ENST00000409794.3	37	c.1321	CCDS33022.2	19																																																																																			-	PLEKHG2	-	NULL		0.547	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	0	0	0	33	33	133	0.00	0.00	C	NM_022835		39911414	+1	5	18	36	131	tier1	no_errors	ENST00000409794	ensembl	human	known	74_37	silent	12.20	12.08	SNP	0.984	T	5	36
CACNA1G	8913	genome.wustl.edu	37	17	48646553	48646553	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr17:48646553T>C	ENST00000359106.5	+	3	382	c.382T>C	c.(382-384)Ttt>Ctt	p.F128L	CACNA1G_ENST00000442258.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.F128L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.F128L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.F128L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.F128L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.F128L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.F128L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.F128L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.F128L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	128					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTTGCCTTCTTTGCCGTGGA	0.517													ENSG00000006283																																					0													141.0	131.0	134.0					17																	48646553		1985	4164	6149	SO:0001583	missense	0			-	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.382T>C	17.37:g.48646553T>C	ENSP00000352011:p.Phe128Leu		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.F128L	ENST00000359106.5	37	c.382	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	t	30	5.053072	0.93793	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3	5.17	5.17	0.71159	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98027	4.13	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.988;0.997;0.999;0.983;0.999;0.995;0.991;0.999;0.991;1.0;0.999;1.0;1.0;0.999;0.995;0.971;0.989;0.999;0.999;1.0;0.985;1.0;0.999;1.0;0.997;0.987	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;P	0.91635	0.983;0.996;0.997;0.992;0.997;0.994;0.989;0.997;0.989;0.999;0.996;0.999;0.999;0.998;0.989;0.928;0.869;0.99;0.997;0.999;0.977;0.999;0.996;0.99;0.989;0.793	D	0.97737	1.0206	10	0.72032	D	0.01	.	15.0144	0.71573	0.0:0.0:0.0:1.0	.	128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128;128	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	L	128	ENSP00000353990:F128L;ENSP00000339302:F128L;ENSP00000392390:F128L;ENSP00000347078:F128L;ENSP00000409759:F128L;ENSP00000425522:F128L;ENSP00000426261:F128L;ENSP00000425451:F128L;ENSP00000422407:F128L;ENSP00000426814:F128L;ENSP00000427238:F128L;ENSP00000423112:F128L;ENSP00000420918:F128L;ENSP00000426172:F128L;ENSP00000423045:F128L;ENSP00000427173:F128L;ENSP00000426098:F128L;ENSP00000425698:F128L;ENSP00000426232:F128L;ENSP00000423317:F128L;ENSP00000350979:F128L;ENSP00000352011:F128L;ENSP00000414388:F128L;ENSP00000423155:F128L;ENSP00000422268:F128L;ENSP00000421518:F128L	ENSP00000339302:F128L	F	+	1	0	CACNA1G	46001552	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.026000	0.88783	1.959000	0.56917	0.334000	0.21626	TTT	-	CAC1G	-	pfam_Ion_trans_dom		0.517	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CAC1G	HGNC	protein_coding	OTTHUMT00000367895.1	0	0	0	103	103	115	0.00	0.00	T	NM_018896		48646553	+1	16	13	155	113	tier1	no_errors	ENST00000359106	ensembl	human	known	74_37	missense	9.36	10.24	SNP	1.000	C	16	155
HLA-F	3134	genome.wustl.edu	37	6	29692901	29692901	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr6:29692901C>T	ENST00000376861.1	+	5	1088	c.704C>T	c.(703-705)aCg>aTg	p.T235M	HLA-F_ENST00000440587.2_Missense_Mutation_p.T117M|HLA-F_ENST00000259951.7_Missense_Mutation_p.T235M|HLA-F_ENST00000334668.4_Missense_Mutation_p.T235M|HLA-F_ENST00000434407.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	235	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGAGATCACGCTGACCTGG	0.627													ENSG00000204642																																					0													54.0	50.0	51.0					6																	29692901		2203	4300	6503	SO:0001583	missense	0			-	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.704C>T	6.37:g.29692901C>T	ENSP00000366057:p.Thr235Met		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a	p.T235M	ENST00000376861.1	37	c.704	CCDS43438.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.352|8.352	0.831018|0.831018	0.16820|0.16820	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000429294|ENST00000376861;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000399258;ENST00000440587	.|T;T;T;T	.|0.03181	.|4.02;4.02;4.02;4.02	1.92|1.92	1.92|1.92	0.25849|0.25849	.|Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	.|1.013100	.|0.07958	.|U	.|0.981985	T|T	0.03739|0.03739	0.0106|0.0106	M|M	0.83692|0.83692	2.655|2.655	0.19575|0.19575	N|N	0.999965|0.999965	.|P;D;D	.|0.89917	.|0.943;0.982;1.0	.|B;B;P	.|0.45913	.|0.276;0.274;0.497	T|T	0.38156|0.38156	-0.9674|-0.9674	5|10	.|0.87932	.|D	.|0	.|.	7.2321|7.2321	0.26049|0.26049	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|235;235;235	.|A8MVU7;P30511;P30511-3	.|.;HLAF_HUMAN;.	C|M	114|235;212;235;235;149;117	.|ENSP00000366057:T235M;ENSP00000334263:T235M;ENSP00000259951:T235M;ENSP00000404130:T117M	.|ENSP00000259951:T235M	R|T	+|+	1|2	0|0	HLA-F|HLA-F	29800880|29800880	0.000000|0.000000	0.05858|0.05858	0.719000|0.719000	0.30619|0.30619	0.313000|0.313000	0.28021|0.28021	-0.045000|-0.045000	0.12003|0.12003	1.046000|1.046000	0.40249|0.40249	0.436000|0.436000	0.28706|0.28706	CGC|ACG	-	HLA-F	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.627	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	0	0	0	90	90	29	0.00	0.00	C	NM_018950		29692901	+1	26	4	144	29	tier1	no_errors	ENST00000259951	ensembl	human	known	74_37	missense	15.20	12.12	SNP	0.675	T	26	144
ALOX12B	242	genome.wustl.edu	37	17	7989357	7989357	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr17:7989357G>A	ENST00000319144.4	-	2	589	c.329C>T	c.(328-330)aCc>aTc	p.T110I	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	110	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GAGTGCCAGGGTCTCGTAGCC	0.612										Multiple Myeloma(8;0.094)			ENSG00000179477																																					0													106.0	92.0	97.0					17																	7989357		2203	4300	6503	SO:0001583	missense	0			-	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.329C>T	17.37:g.7989357G>A	ENSP00000315167:p.Thr110Ile			Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml	p.T110I	ENST00000319144.4	37	c.329	CCDS11129.1	17	.	.	.	.	.	.	.	.	.	.	G	17.31	3.356299	0.61293	.	.	ENSG00000179477	ENST00000319144	T	0.77877	-1.13	4.63	4.63	0.57726	Lipoxygenase, C-terminal (1);Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.331430	0.36815	N	0.002385	T	0.77232	0.4100	L	0.49455	1.56	0.36952	D	0.892912	P	0.46859	0.885	P	0.48089	0.566	T	0.79794	-0.1653	10	0.33940	T	0.23	-37.0103	14.56	0.68128	0.0:0.0:1.0:0.0	.	110	O75342	LX12B_HUMAN	I	110	ENSP00000315167:T110I	ENSP00000315167:T110I	T	-	2	0	ALOX12B	7930082	0.987000	0.35691	0.996000	0.52242	0.989000	0.77384	2.736000	0.47385	2.416000	0.81992	0.555000	0.69702	ACC	-	ALOX12B	-	pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom		0.612	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12B	HGNC	protein_coding	OTTHUMT00000226984.3	0	0	0	26	26	74	0.00	0.00	G			7989357	-1	5	4	52	69	tier1	no_errors	ENST00000319144	ensembl	human	known	74_37	missense	8.77	5.48	SNP	0.921	A	5	52
ADTRP	84830	genome.wustl.edu	37	6	11714728	11714728	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr6:11714728G>A	ENST00000414691.3	-	6	1086	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.R244W	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											CTCTTCTTCCGTGGCTGCCTC	0.413													ENSG00000111863																																					0													144.0	138.0	140.0					6																	11714728		2203	4300	6503	SO:0001583	missense	0			-	AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.676C>T	6.37:g.11714728G>A	ENSP00000404416:p.Arg226Trp		B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.R244W	ENST00000414691.3	37	c.730	CCDS4521.1	6	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835963	0.71373	.	.	ENSG00000111863	ENST00000414691;ENST00000229583	T;T	0.33216	1.43;1.42	6.15	-2.23	0.06930	.	.	.	.	.	T	0.12347	0.0300	L	0.53249	1.67	0.18873	N	0.999987	D;B	0.60160	0.987;0.005	P;B	0.46825	0.528;0.001	T	0.07385	-1.0775	9	0.66056	D	0.02	.	1.3421	0.02156	0.2376:0.0981:0.2128:0.4515	.	244;226	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	W	226;244	ENSP00000404416:R226W;ENSP00000229583:R244W	ENSP00000229583:R244W	R	-	1	2	C6orf105	11822714	0.000000	0.05858	0.000000	0.03702	0.624000	0.37722	-0.905000	0.04075	-0.388000	0.07797	-0.148000	0.13756	CGG	-	ADTRP	-	NULL		0.413	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADTRP	HGNC	protein_coding	OTTHUMT00000039864.3	0	0	0	77	77	96	0.00	0.00	G	NM_032744		11714728	-1	13	11	111	135	tier1	no_errors	ENST00000229583	ensembl	human	known	74_37	missense	10.48	7.53	SNP	0.000	A	13	111
CDC7	8317	genome.wustl.edu	37	1	91977217	91977217	+	Silent	SNP	T	T	A			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr1:91977217T>A	ENST00000428239.1	+	5	658	c.399T>A	c.(397-399)gcT>gcA	p.A133A	CDC7_ENST00000430031.2_Silent_p.A105A|CDC7_ENST00000234626.6_Silent_p.A133A	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		TAGTTATTGCTATGCCATATC	0.313													ENSG00000097046																																					0													205.0	206.0	206.0					1																	91977217		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.399T>A	1.37:g.91977217T>A			D3DT31|O00558|Q5T5U5	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A133	ENST00000428239.1	37	c.399	CCDS734.1	1																																																																																			-	CDC7	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.313	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC7	HGNC	protein_coding	OTTHUMT00000027928.1	0	0	0	43	43	106	0.00	0.00	T	NM_003503		91977217	+1	10	8	91	121	tier1	no_errors	ENST00000234626	ensembl	human	known	74_37	silent	9.90	6.20	SNP	0.984	A	10	91
NPVF	64111	genome.wustl.edu	37	7	25266594	25266594	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr7:25266594C>A	ENST00000222674.2	-	2	236	c.190G>T	c.(190-192)Gat>Tat	p.D64Y		NM_022150.3	NP_071433	Q9HCQ7	NPVF_HUMAN	neuropeptide VF precursor	64					negative regulation of gonadotropin secretion (GO:0032277)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GGTCCCCAATCTTTTAATTCC	0.378													ENSG00000105954																																					0													106.0	112.0	110.0					7																	25266594		2203	4300	6503	SO:0001583	missense	0			-	AB040290	CCDS5395.1	7p21-p15	2013-02-28	2006-10-06	2006-10-06	ENSG00000105954	ENSG00000105954		"""Endogenous ligands"""	13782	protein-coding gene	gene with protein product	"""RFamide-related peptide precursor"", ""FMRFamide-related peptide precursor"""		"""chromosome 7 open reading frame 9"""	C7orf9		11951088, 11173868	Standard	NM_022150		Approved	RFRP	uc003sxo.3	Q9HCQ7	OTTHUMG00000128509	ENST00000222674.2:c.190G>T	7.37:g.25266594C>A	ENSP00000222674:p.Asp64Tyr		A4D164|Q7LE27|Q96PI9	Missense_Mutation	SNP	NULL	p.D64Y	ENST00000222674.2	37	c.190	CCDS5395.1	7	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430040	0.43122	.	.	ENSG00000105954	ENST00000222674	T	0.27720	1.65	5.67	4.75	0.60458	.	0.088198	0.48767	D	0.000177	T	0.50684	0.1630	L	0.52905	1.665	0.44539	D	0.997491	D	0.89917	1.0	D	0.77004	0.989	T	0.49862	-0.8894	10	0.87932	D	0	-8.435	15.664	0.77213	0.0:0.8642:0.1358:0.0	.	64	Q9HCQ7	RFRP_HUMAN	Y	64	ENSP00000222674:D64Y	ENSP00000222674:D64Y	D	-	1	0	NPVF	25233119	1.000000	0.71417	1.000000	0.80357	0.653000	0.38743	1.850000	0.39328	2.836000	0.97738	0.655000	0.94253	GAT	-	NPVF	-	NULL		0.378	NPVF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPVF	HGNC	protein_coding	OTTHUMT00000250315.1	0	0	0	47	47	127	0.00	0.00	C	NM_022150		25266594	-1	11	11	75	129	tier1	no_errors	ENST00000222674	ensembl	human	known	74_37	missense	12.79	7.86	SNP	1.000	A	11	75
TRPM1	4308	genome.wustl.edu	37	15	31294794	31294797	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	TTCT	TTCT	TTCT	-	TTCT	TTCT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr15:31294794_31294797delTTCT	ENST00000256552.6	-	28	4253_4256	c.4106_4109delAGAA	c.(4105-4110)aagaacfs	p.KN1369fs	TRPM1_ENST00000542188.1_Frame_Shift_Del_p.KN1386fs|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Frame_Shift_Del_p.KN1347fs	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCTTCAGCGTTCTTTAAGTCATC	0.426													ENSG00000134160																																					0																																										SO:0001589	frameshift_variant	0				AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4106_4109delAGAA	15.37:g.31294794_31294797delTTCT	ENSP00000256552:p.Lys1369fs			Frame_Shift_Del	DEL	pfam_Ion_trans_dom	p.K1386fs	ENST00000256552.6	37	c.4160_4157	CCDS58346.1	15																																																																																				TRPM1	-	NULL		0.426	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	0	0	0	34	34	113	0.00	0.00	TTCT	NM_002420		31294797	-1	6	10	36	119	tier1	no_errors	ENST00000542188	ensembl	human	known	74_37	frame_shift_del	14.29	7.75	DEL	0.000:0.000:0.002:0.002	-	6	36
LOC101927209	101927209	genome.wustl.edu	37	1	142620676	142620678	+	lincRNA	DEL	ATA	ATA	-	rs375376320		TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	ATA	ATA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr1:142620676_142620678delATA	ENST00000610091.1	-	0	6805_6807				RP11-417J8.3_ENST00000426408.1_lincRNA																							TAGTGAACTTATAATGTTTCTTT	0.217													ENSG00000203849																																					0																																												0																																1.37:g.142620676_142620678delATA				R	DEL	-	NULL	ENST00000610091.1	37	NULL		1																																																																																				RP11-417J8.6	-	-		0.217	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2	0	0	0	19	19	0	0.00	0.00	ATA			142620678	-1	3	0	18	0	tier1	no_errors	ENST00000369381	ensembl	human	known	74_37	rna	14.29	0.00	DEL	0.222:0.217:0.212	-	3	18
MT-ND2	4536	genome.wustl.edu	37	M	2226	2226	+	5'Flank	SNP	T	T	C			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chrM:2226T>C	ENST00000361453.3	+	0	0				MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|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(2)|lung(1)	3						ACACCCACTACCTAAAAAATC	0.363													ENSG00000210082																																					0																																										SO:0001631	upstream_gene_variant	0			-			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2226T>C	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	R	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			-	MT-RNR2	-	-		0.363	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding		0	0	0	49	49	2	0.00	0.00	T	YP_003024027		2226	+1	8	0	75	0	tier1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	9.64	0.00	SNP	NULL	C	8	75
PCOLCE2	26577	genome.wustl.edu	37	3	142607822	142607823	+	5'UTR	INS	-	-	GCTCACACTGGCAGCAGCGCTG			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr3:142607822_142607823insGCTCACACTGGCAGCAGCGCTG	ENST00000295992.3	-	0	222_223				PCOLCE2_ENST00000461818.1_5'UTR|PCOLCE2_ENST00000485766.1_5'Flank	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2						positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCACACCGCCGCTCACACTGG	0.772													ENSG00000163710																																					0																																										SO:0001623	5_prime_UTR_variant	0				AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.-85->CAGCGCTGCTGCCAGTGTGAGC	3.37:g.142607822_142607823insGCTCACACTGGCAGCAGCGCTG			B2RCH9|D3DNG4|Q9BRH3	R	INS	-	NULL	ENST00000295992.3	37	NULL	CCDS3127.1	3																																																																																				PCOLCE2	-	-		0.772	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE2	HGNC	protein_coding	OTTHUMT00000354509.1	0	0	0	0	0	0	0.00	0.00	-	NM_013363		142607823	-1	0	0	0	0	tier1	no_errors	ENST00000461818	ensembl	human	known	74_37	rna	0.00	0.00	INS	0.000:0.000	GCTCACACTGGCAGCAGCGCTG	0	0
SRPX	8406	genome.wustl.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000101955		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053																2	Deletion - In frame(2)	prostate(2)																																								SO:0001651	inframe_deletion	0				U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del	875	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.L23in_frame_del	ENST00000378533.3	37	c.70_68	CCDS14245.1	X																																																																																				SRPX	-	NULL		0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	0	0	0	10	10	0	0.00	0.00	GCA	NM_006307		38079978	-1	2	0	20	0	tier1	no_errors	ENST00000378533	ensembl	human	known	74_37	in_frame_del	9.09	0.00	DEL	0.000:0.001:0.002	-	2	20
KLHL18	23276	genome.wustl.edu	37	3	47385390	47385390	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A1L4-01A-12D-A26G-09	TCGA-DX-A1L4-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6c1aa1b8-f02c-43e7-a410-cc0344f0107e	6c11585a-6ac8-4f59-90c4-cae54eb89e0e	g.chr3:47385390G>A	ENST00000232766.5	+	10	1704	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	KLHL18_ENST00000455924.2_Missense_Mutation_p.G450R	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	562										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GTGCCATGAGGGAGGGGTCGG	0.582													ENSG00000114648																																					0													98.0	96.0	96.0					3																	47385390		2203	4300	6503	SO:0001583	missense	0			-	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1684G>A	3.37:g.47385390G>A	ENSP00000232766:p.Gly562Arg		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G562R	ENST00000232766.5	37	c.1684	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615040	0.87359	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.74842	-0.73;-0.88	5.15	4.28	0.50868	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.82504	0.5051	M	0.62154	1.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80801	-0.1220	10	0.31617	T	0.26	.	12.7299	0.57193	0.0784:0.0:0.9216:0.0	.	562	O94889	KLH18_HUMAN	R	562;450	ENSP00000232766:G562R;ENSP00000405585:G450R	ENSP00000232766:G562R	G	+	1	0	KLHL18	47360394	1.000000	0.71417	0.977000	0.42913	0.978000	0.69477	9.587000	0.98229	1.412000	0.46977	0.561000	0.74099	GGA	-	KLHL18	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.582	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	0	0	0	12	12	48	0.00	0.00	G	NM_025010		47385390	+1	7	2	37	41	tier1	no_errors	ENST00000232766	ensembl	human	known	74_37	missense	15.91	4.65	SNP	1.000	A	7	37
