#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
GPR112	139378	genome.wustl.edu	37	X	135427620	135427620	+	Silent	SNP	T	T	C			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chrX:135427620T>C	ENST00000394143.1	+	6	2046	c.1755T>C	c.(1753-1755)acT>acC	p.T585T	GPR112_ENST00000287534.4_Silent_p.T522T|GPR112_ENST00000412101.1_Silent_p.T380T|GPR112_ENST00000370652.1_Silent_p.T585T|GPR112_ENST00000394141.1_Silent_p.T380T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	585					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T585T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGCCTTAACTCCTGAAATCA	0.433																																							0											1	Substitution - coding silent(1)	lung(1)											107.0	83.0	91.0					X																	135427620		2203	4300	6503	SO:0001819	synonymous_variant	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1755T>C	X.37:g.135427620T>C			A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.T585	ENST00000394143.1	37	c.1755	CCDS35409.1	X																																																																																			0	NULL		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	33	98	0	0.00	0	0	T		0	0		135427620	1	no_errors	ENST00000370652	ensembl	human	known	74_37	silent	20	66	25.93	31.96	7	31	SNP	0	C
SCN2A	6326	genome.wustl.edu	37	2	166188030	166188030	+	Silent	SNP	C	C	T			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr2:166188030C>T	ENST00000375437.2	+	14	2630	c.2340C>T	c.(2338-2340)caC>caT	p.H780H	SCN2A_ENST00000283256.6_Silent_p.H780H|SCN2A_ENST00000357398.3_Silent_p.H780H|SCN2A_ENST00000375427.2_Silent_p.H780H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	780					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTATGGAGCACTATCCCATGA	0.448																																							0											0													133.0	113.0	120.0					2																	166188030		2203	4300	6503	SO:0001819	synonymous_variant	0			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2340C>T	2.37:g.166188030C>T			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.H780	ENST00000375437.2	37	c.2340	CCDS33314.1	2																																																																																			0	NULL		0.448	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	73	211	0	0.00	0	0	C	NM_021007	0	0		166188030	1	no_errors	ENST00000283256	ensembl	human	known	74_37	silent	34	126	12.82	11.27	5	16	SNP	0.999	T
ADAMTS9	56999	genome.wustl.edu	37	3	64592729	64592729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr3:64592729G>T	ENST00000498707.1	-	23	3723	c.3381C>A	c.(3379-3381)taC>taA	p.Y1127*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Y1099*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1127	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCTTAGCTGGTATCCCTGTC	0.418																																							0											0													196.0	167.0	177.0					3																	64592729		2203	4300	6503	SO:0001587	stop_gained	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.3381C>A	3.37:g.64592729G>T	ENSP00000418735:p.Tyr1127*		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Nonsense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Y1127*	ENST00000498707.1	37	c.3381	CCDS2903.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.673008|5.673008	0.96754|0.96754	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000481060|ENST00000295903;ENST00000498707	.|.	.|.	.|.	5.73|5.73	4.85|4.85	0.62838|0.62838	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.34861|.	0.0912|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17379|.	-1.0371|.	4|.	.|0.02654	.|T	.|1	.|.	12.3576|12.3576	0.55184|0.55184	0.1375:0.0:0.8625:0.0|0.1375:0.0:0.8625:0.0	.|.	.|.	.|.	.|.	N|X	183|1099;1127	.|.	.|ENSP00000295903:Y1099X	T|Y	-|-	2|3	0|2	ADAMTS9|ADAMTS9	64567769|64567769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	2.487000|2.487000	0.45268|0.45268	1.528000|1.528000	0.49103|0.49103	0.655000|0.655000	0.94253|0.94253	ACC|TAC	0	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.418	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	59	150	0	0.00	0	0	G		0	0		64592729	-1	no_errors	ENST00000498707	ensembl	human	known	74_37	nonsense	43	133	20.37	12.34	11	19	SNP	1	T
FGA	2243	genome.wustl.edu	37	4	155506807	155506807	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr4:155506807C>T	ENST00000302053.3	-	5	1852	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R	FGA_ENST00000403106.3_Missense_Mutation_p.G592R	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	592					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTGGAGTCTCCTCTGTTGTAA	0.453																																					NSCLC(143;340 1922 20892 22370 48145)		0											0													135.0	130.0	131.0					4																	155506807		2203	4300	6503	SO:0001583	missense	0				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1774G>A	4.37:g.155506807C>T	ENSP00000306361:p.Gly592Arg		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G592R	ENST00000302053.3	37	c.1774	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843385	0.51057	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.59638	0.25;2.26	5.73	3.96	0.45880	.	4.861610	0.00166	N	0.000009	T	0.71821	0.3385	L	0.61218	1.895	0.09310	N	0.999995	P;P	0.48162	0.906;0.804	P;P	0.55713	0.782;0.661	T	0.50065	-0.8871	10	0.35671	T	0.21	.	11.427	0.50015	0.1378:0.7216:0.1406:0.0	.	592;592	P02671-2;P02671	.;FIBA_HUMAN	R	592	ENSP00000306361:G592R;ENSP00000385981:G592R	ENSP00000306361:G592R	G	-	1	0	FGA	155726257	1.000000	0.71417	0.010000	0.14722	0.006000	0.05464	4.295000	0.59049	0.833000	0.34828	0.655000	0.94253	GGA	0	NULL		0.453	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	protein_coding	OTTHUMT00000317593.1	53	218	0	0.00	0	0	C	NM_000508	0	0		155506807	-1	no_errors	ENST00000302053	ensembl	human	known	74_37	missense	34	142	19.05	15.38	8	26	SNP	0.59	T
NIPBL	25836	genome.wustl.edu	37	5	37059083	37059083	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr5:37059083C>T	ENST00000282516.8	+	44	8000	c.7501C>T	c.(7501-7503)Cgg>Tgg	p.R2501W	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2501W	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2501					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCCAGGCCTCGGAAGTCACG	0.378																																							0											0													120.0	123.0	122.0					5																	37059083		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7501C>T	5.37:g.37059083C>T	ENSP00000282516:p.Arg2501Trp		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R2501W	ENST00000282516.8	37	c.7501	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533071	0.85812	.	.	ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819	D;D;D	0.93488	-3.23;-3.22;-1.54	5.85	5.85	0.93711	.	0.056069	0.64402	D	0.000002	D	0.93187	0.7830	L	0.43152	1.355	0.49915	D	0.999838	D;D;D	0.69078	0.992;0.992;0.997	P;P;P	0.53006	0.522;0.522;0.715	D	0.93474	0.6821	10	0.72032	D	0.01	-7.0137	14.9345	0.70944	0.143:0.857:0.0:0.0	.	2501;2501;2501	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	W	2501;2501;27	ENSP00000282516:R2501W;ENSP00000406266:R2501W;ENSP00000421504:R27W	ENSP00000282516:R2501W	R	+	1	2	NIPBL	37094840	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.456000	0.44997	2.767000	0.95098	0.563000	0.77884	CGG	0	NULL		0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	82	200	0	0.00	0	0	C	NM_015384	0	0		37059083	1	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	89	186	15.24	13.08	16	28	SNP	1	T
OFCC1	266553	genome.wustl.edu	37	6	9977791	9977791	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr6:9977791G>A	ENST00000316020.6	-	1	10	c.11C>T	c.(10-12)aCc>aTc	p.T4I	OFCC1_ENST00000472329.1_Intron			Q8IZS5	OFCC1_HUMAN	orofacial cleft 1 candidate 1	197										endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				GATGAGACTGGTGATCCACAT	0.473																																							0											0																																										SO:0001583	missense	0			AF548113		6p24.3	2010-11-23			ENSG00000181355	ENSG00000181355			21017	protein-coding gene	gene with protein product		614287					Standard	XM_003119969		Approved	MRDS1	uc003myh.1	Q8IZS5	OTTHUMG00000159104	ENST00000316020.6:c.11C>T	6.37:g.9977791G>A	ENSP00000325053:p.Thr4Ile		Q7Z2X5|Q8IUL6|Q8IUM1|Q8IZR9|Q8IZS1|Q8IZS3	Missense_Mutation	SNP	NULL	p.T4I	ENST00000316020.6	37	c.11		6	.	.	.	.	.	.	.	.	.	.	G	14.35	2.509053	0.44660	.	.	ENSG00000181355	ENST00000316020;ENST00000491508	T;T	0.34667	1.36;1.35	3.18	3.18	0.36537	.	.	.	.	.	T	0.28034	0.0691	.	.	.	0.09310	N	1	P	0.51791	0.948	P	0.52481	0.7	T	0.02484	-1.1152	7	.	.	.	.	10.1292	0.42669	0.0:0.0:1.0:0.0	.	4	Q8IZS5-2	.	I	4	ENSP00000325053:T4I;ENSP00000418251:T4I	.	T	-	2	0	OFCC1	10085777	0.402000	0.25311	0.314000	0.25224	0.795000	0.44927	3.072000	0.50049	2.092000	0.63282	0.561000	0.74099	ACC	0	NULL		0.473	OFCC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	OFCC1	protein_coding		33	176	0	0.00	0	0	G	NM_153003	0	0		9977791	-1	no_errors	ENST00000316020	ensembl	human	known	74_37	missense	37	143	17.78	13.33	8	22	SNP	0.385	A
MDN1	23195	genome.wustl.edu	37	6	90405582	90405582	+	Silent	SNP	C	C	T			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr6:90405582C>T	ENST00000369393.3	-	61	9628	c.9513G>A	c.(9511-9513)caG>caA	p.Q3171Q	MDN1_ENST00000428876.1_Silent_p.Q3171Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3171					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCTGGAAGGCCTGGCTGCTCC	0.627																																							0											0													40.0	41.0	41.0					6																	90405582		2203	4300	6503	SO:0001819	synonymous_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.9513G>A	6.37:g.90405582C>T			O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.Q3171	ENST00000369393.3	37	c.9513	CCDS5024.1	6																																																																																			0	pirsf_Midasin		0.627	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	protein_coding	OTTHUMT00000041514.2	25	34	0	0.00	0	0	C		0	0		90405582	-1	no_errors	ENST00000369393	ensembl	human	known	74_37	silent	22	40	15.38	6.98	4	3	SNP	0.72	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	380	104	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	270	85	16.41	16.67	53	17	SNP	1	A
ESCO2	157570	genome.wustl.edu	37	8	27634549	27634549	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr8:27634549G>A	ENST00000305188.8	+	3	962	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	242					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		AGAAGTCATTGAAGATTCTGA	0.388									SC Phocomelia syndrome																														0											0													53.0	57.0	56.0					8																	27634549		2203	4299	6502	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.724G>A	8.37:g.27634549G>A	ENSP00000306999:p.Glu242Lys		B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.E242K	ENST00000305188.8	37	c.724	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	G	0.743	-0.775579	0.02951	.	.	ENSG00000171320	ENST00000305188	T	0.63913	-0.07	5.83	1.58	0.23477	.	1.608370	0.03118	N	0.163317	T	0.50000	0.1590	L	0.35723	1.085	0.09310	N	0.999998	B;B	0.16396	0.017;0.002	B;B	0.14578	0.011;0.002	T	0.25082	-1.0142	10	0.07175	T	0.84	-2.1249	8.366	0.32387	0.3629:0.0:0.6371:0.0	.	242;242	E5RFE4;Q56NI9	.;ESCO2_HUMAN	K	242	ENSP00000306999:E242K	ENSP00000306999:E242K	E	+	1	0	ESCO2	27690468	0.137000	0.22531	0.126000	0.21872	0.137000	0.21094	0.390000	0.20768	0.400000	0.25396	0.591000	0.81541	GAA	0	NULL		0.388	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	protein_coding	OTTHUMT00000376276.1	74	156	0	0.00	0	0	G	NM_001017420	0	0		27634549	1	no_errors	ENST00000305188	ensembl	human	known	74_37	missense	59	127	22.37	17.95	17	28	SNP	0.008	A
ADHFE1	137872	genome.wustl.edu	37	8	67357602	67357602	+	Missense_Mutation	SNP	T	T	C			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr8:67357602T>C	ENST00000396623.3	+	6	534	c.503T>C	c.(502-504)aTt>aCt	p.I168T	ADHFE1_ENST00000415254.1_Missense_Mutation_p.I120T|ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.I168T	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	168					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|molecular hydrogen transport (GO:0015993)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacid-oxoacid transhydrogenase activity (GO:0047988)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AGTGCCCCCATTGGCAAGGGA	0.448																																							0											0													257.0	234.0	242.0					8																	67357602		2203	4300	6503	SO:0001583	missense	0			AK056992	CCDS6190.2	8q12.3	2013-05-21			ENSG00000147576	ENSG00000147576	1.1.99.24	"""Alcohol dehydrogenases"""	16354	protein-coding gene	gene with protein product	"""hydroxyacid-oxoacid transhydrogenase"""	611083				12592711	Standard	NM_144650		Approved	ADHFe1, FLJ32430	uc003xwb.4	Q8IWW8	OTTHUMG00000150215	ENST00000396623.3:c.503T>C	8.37:g.67357602T>C	ENSP00000379865:p.Ile168Thr		B4DTJ8|Q49A19|Q68CI7|Q6P2B6|Q96MF9	Missense_Mutation	SNP	pfam_ADH_Fe	p.I168T	ENST00000396623.3	37	c.503	CCDS6190.2	8	.	.	.	.	.	.	.	.	.	.	T	25.5	4.647833	0.87958	.	.	ENSG00000147576	ENST00000379385;ENST00000396623;ENST00000415254	T;T	0.48836	0.8;0.81	5.85	5.85	0.93711	Alcohol dehydrogenase, iron-type (1);	0.141387	0.64402	D	0.000010	T	0.73009	0.3532	M	0.88031	2.925	0.80722	D	1	D	0.63046	0.992	D	0.68039	0.955	T	0.77968	-0.2388	9	.	.	.	1.0093	16.2421	0.82418	0.0:0.0:0.0:1.0	.	168	Q8IWW8	HOT_HUMAN	T	168;168;120	ENSP00000379865:I168T;ENSP00000407115:I120T	.	I	+	2	0	ADHFE1	67520156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.707000	0.84623	2.234000	0.73211	0.533000	0.62120	ATT	0	pfam_ADH_Fe		0.448	ADHFE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADHFE1	protein_coding	OTTHUMT00000316867.3	41	172	0	0.00	0	0	T	NM_144650	0	0		67357602	1	no_errors	ENST00000396623	ensembl	human	known	74_37	missense	43	147	12.24	16.00	6	28	SNP	1	C
PRICKLE1	144165	genome.wustl.edu	37	12	42864131	42864131	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr12:42864131C>T	ENST00000455697.1	-	3	448	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E55K|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E55K|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E55K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E55K	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	55	PET. {ECO:0000255|PROSITE- ProRule:PRU00636}.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell myoblast differentiation (GO:2000691)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGAACTTTTTCCTCTGGTAAG	0.408																																							0											0													111.0	100.0	104.0					12																	42864131		2203	4300	6503	SO:0001583	missense	0			AK056499	CCDS8742.1	12p11-q12	2010-08-13	2006-09-12			ENSG00000139174			17019	protein-coding gene	gene with protein product		608500	"""prickle-like 1 (Drosophila)"""			12525887, 18976727	Standard	NM_153026		Approved	FLJ31937, EPM1B	uc010skv.2	Q96MT3		ENST00000455697.1:c.163G>A	12.37:g.42864131C>T	ENSP00000401060:p.Glu55Lys		Q14C83|Q71QF8|Q96N00	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E55K	ENST00000455697.1	37	c.163	CCDS8742.1	12	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870271	0.72065	.	.	ENSG00000139174	ENST00000455697;ENST00000445766;ENST00000548696;ENST00000345127;ENST00000552240;ENST00000552108;ENST00000551050;ENST00000547113	D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.38	5.38	0.77491	PET domain (2);	0.335739	0.38548	N	0.001658	D	0.85915	0.5808	L	0.49640	1.575	0.80722	D	1	B	0.12013	0.005	B	0.21151	0.033	T	0.81686	-0.0820	10	0.59425	D	0.04	-4.6857	19.5701	0.95409	0.0:1.0:0.0:0.0	.	55	Q96MT3	PRIC1_HUMAN	K	55	ENSP00000401060:E55K;ENSP00000398947:E55K;ENSP00000448359:E55K;ENSP00000345064:E55K;ENSP00000449819:E55K;ENSP00000447870:E55K;ENSP00000446970:E55K;ENSP00000446699:E55K	ENSP00000345064:E55K	E	-	1	0	PRICKLE1	41150398	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.773000	0.85462	2.702000	0.92279	0.556000	0.70494	GAA	0	pfam_PET_domain		0.408	PRICKLE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRICKLE1	protein_coding	OTTHUMT00000404069.1	33	226	0	0.00	0	0	C		0	0		42864131	-1	no_errors	ENST00000345127	ensembl	human	known	74_37	missense	34	208	8.11	15.79	3	39	SNP	1	T
ATP2C2	9914	genome.wustl.edu	37	16	84456271	84456271	+	Missense_Mutation	SNP	G	G	A	rs201615601		TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr16:84456271G>A	ENST00000262429.4	+	9	900	c.811G>A	c.(811-813)Gga>Aga	p.G271R	ATP2C2_ENST00000416219.2_Missense_Mutation_p.G271R|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	271					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTCTCAGTTCGGAGAAGTGTT	0.502																																							0											0								G	ARG/GLY	4,3762		0,4,1879	196.0	196.0	196.0		811	5.2	1.0	16		196	0,8224		0,0,4112	yes	missense	ATP2C2	NM_014861.2	125	0,4,5991	AA,AG,GG		0.0,0.1062,0.0334	probably-damaging	271/947	84456271	4,11986	1883	4112	5995	SO:0001583	missense	0			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.811G>A	16.37:g.84456271G>A	ENSP00000262429:p.Gly271Arg		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.G271R	ENST00000262429.4	37	c.811	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992945	0.93167	0.001062	0.0	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.93189	-3.18;-3.18	5.16	5.16	0.70880	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.64402	D	0.000004	D	0.98648	0.9547	H	0.99944	5.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99445	1.0939	10	0.87932	D	0	.	17.1945	0.86888	0.0:0.0:1.0:0.0	.	271;120;288;271	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	R	271;271;120	ENSP00000397925:G271R;ENSP00000262429:G271R	ENSP00000262429:G271R	G	+	1	0	ATP2C2	83013772	1.000000	0.71417	0.971000	0.41717	0.905000	0.53344	9.201000	0.95017	2.381000	0.81170	0.650000	0.86243	GGA	0	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1		0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	protein_coding	OTTHUMT00000433404.1	33	153	0	0.00	0	0	G	NM_014861	rs201615601	G->A		84456271	1	no_errors	ENST00000262429	ensembl	human	known	74_37	missense	22	141	18.52	9.62	5	15	SNP	1	A
CACTIN	58509	genome.wustl.edu	37	19	3620801	3620801	+	Splice_Site	SNP	C	C	G			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr19:3620801C>G	ENST00000429344.2	-	3	695		c.e3-1		CACTIN_ENST00000221899.3_Splice_Site|CACTIN_ENST00000248420.5_Splice_Site	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit						cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCTCCAGGGCCTGGAAGCACC	0.622																																							0											0													72.0	80.0	77.0					19																	3620801		2066	4177	6243	SO:0001630	splice_region_variant	0			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.643-1G>C	19.37:g.3620801C>G			A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Splice_Site	SNP	0	e2-1	ENST00000429344.2	37	c.439-1	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	c	14.87	2.663273	0.47572	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000221899	.	.	.	3.3	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7571	0.62943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf29	3571801	1.000000	0.71417	0.996000	0.52242	0.477000	0.33069	6.955000	0.76007	1.689000	0.51079	0.457000	0.33378	.	0	0		0.622	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	protein_coding	OTTHUMT00000457370.2	10	139	0	0.00	0	0	C		0	0	Intron	3620801	-1	no_errors	ENST00000221899	ensembl	human	known	74_37	splice_site	19	81	9.52	8.99	2	8	SNP	1	G
ARHGAP21	57584	genome.wustl.edu	37	10	24883930	24883931	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	-	-	-	A	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr10:24883930_24883931insA	ENST00000396432.2	-	21	4310_4311	c.3824_3825insT	c.(3823-3825)aagfs	p.K1275fs	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Frame_Shift_Ins_p.K1062fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1274	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGAAAGGAACTTAAGTGTTTC	0.322																																							0											0																																										SO:0001589	frameshift_variant	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3824_3825insT	10.37:g.24883930_24883931insA	ENSP00000379709:p.Lys1275fs		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.K1275fs	ENST00000396432.2	37	c.3825_3824	CCDS7144.2	10																																																																																			0	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.322	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	120	82	0	0.00	0	0	0	NM_020824	0	0		24883931	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	frame_shift_ins	76	96	20	6.80	19	7	INS	1.000:1.000	A
ARHGAP21	57584	genome.wustl.edu	37	10	24883931	24883932	+	Frame_Shift_Ins	INS	-	-	C			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr10:24883931_24883932insC	ENST00000396432.2	-	21	4309_4310	c.3823_3824insG	c.(3823-3825)aagfs	p.K1275fs	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Frame_Shift_Ins_p.K1062fs	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1274	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGAAAGGAACTTAAGTGTTTCA	0.322																																							0											0																																										SO:0001589	frameshift_variant	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3823_3824insG	10.37:g.24883931_24883932insC	ENSP00000379709:p.Lys1275fs		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Frame_Shift_Ins	INS	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.K1275fs	ENST00000396432.2	37	c.3824_3823	CCDS7144.2	10																																																																																			0	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.322	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	121	84	0	0.00	0	0	0	NM_020824	0	0		24883932	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	frame_shift_ins	75	98	20.21	6.67	19	7	INS	1.000:1.000	C
MT-ND6	4541	genome.wustl.edu	37	M	14339	14339	+	Missense_Mutation	SNP	A	A	G			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chrM:14339A>G	ENST00000361681.2	-	1	334	c.335T>C	c.(334-336)gTg>gCg	p.V112A	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	112					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCACAACCACCACCCCATCAT	0.502																																							0											0																																										SO:0001583	missense	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.335T>C	M.37:g.14339A>G	ENSP00000354665:p.Val112Ala		Q34774|Q8HG30	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.V112A	ENST00000361681.2	37	c.335		MT																																																																																			0	pfam_NADH_UbQ/plastoQ_OxRdtase_su6		0.502	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	protein_coding		53	5	0	0.00	0	0	A	YP_003024037	0	0		14339	-1	no_errors	ENST00000361681	ensembl	human	known	74_37	missense	48	2	28.36	0.00	19	0	SNP	NULL	G
RIC3	79608	genome.wustl.edu	37	11	8190532	8190532	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr11:8190532G>A	ENST00000309737.6	-	1	4	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RIC3_ENST00000343202.4_Missense_Mutation_p.A2V|RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000425599.2_Missense_Mutation_p.A2V|RIC3_ENST00000335425.7_Missense_Mutation_p.A2V|RIC3_ENST00000419822.2_Missense_Mutation_p.A2V|RP11-379P15.1_ENST00000499752.2_lincRNA			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	2					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		TGTGGAGTACGCCATGACTGC	0.697																																							0											0													38.0	32.0	34.0					11																	8190532		2201	4296	6497	SO:0001583	missense	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.5C>T	11.37:g.8190532G>A	ENSP00000308820:p.Ala2Val		B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	NULL	p.A2V	ENST00000309737.6	37	c.5	CCDS55742.1	11	.	.	.	.	.	.	.	.	.	.	g	13.41	2.229361	0.39399	.	.	ENSG00000166405	ENST00000335425;ENST00000343202;ENST00000309737;ENST00000543346;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T	0.54866	1.11;1.11;1.12;1.14;0.55	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000013	T	0.71550	0.3353	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.997;0.981;0.996;0.998;0.998;0.998	T	0.70498	-0.4855	10	0.37606	T	0.19	-11.8787	17.3187	0.87230	0.0:0.0:1.0:0.0	.	2;2;2;2;2;2	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4-3;Q7Z5B4;Q7Z5B4-5	.;.;.;.;RIC3_HUMAN;.	V	2	ENSP00000344904:A2V;ENSP00000308820:A2V;ENSP00000395320:A2V;ENSP00000431658:A2V;ENSP00000404415:A2V	ENSP00000308820:A2V	A	-	2	0	RIC3	8147108	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	4.961000	0.63681	2.428000	0.82296	0.486000	0.48141	GCG	0	NULL		0.697	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	protein_coding	OTTHUMT00000385900.1	22	18	0	0.00	0	0	G	NM_024557	0	0		8190532	-1	no_errors	ENST00000309737	ensembl	human	known	74_37	missense	27	8	12.9	0.00	4	0	SNP	1	A
EVI5L	115704	genome.wustl.edu	37	19	7927379	7927379	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr19:7927379C>T	ENST00000270530.4	+	16	2069	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	EVI5L_ENST00000538904.2_Missense_Mutation_p.L636F	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	625					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCAGACGCAGCTCAGCGAAAG	0.711																																							0											0													9.0	12.0	11.0					19																	7927379		2161	4244	6405	SO:0001583	missense	0			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1873C>T	19.37:g.7927379C>T	ENSP00000270530:p.Leu625Phe		B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L636F	ENST00000270530.4	37	c.1906	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	c	21.4	4.145730	0.77888	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.30714	1.52;1.52	4.43	4.43	0.53597	.	0.152547	0.45126	D	0.000390	T	0.48187	0.1486	M	0.71206	2.165	0.44562	D	0.997528	D;P	0.56287	0.975;0.955	P;P	0.58210	0.835;0.835	T	0.51772	-0.8663	10	0.72032	D	0.01	-18.5448	12.4372	0.55606	0.0:1.0:0.0:0.0	.	636;625	B9A6I9;Q96CN4	.;EVI5L_HUMAN	F	625;636	ENSP00000270530:L625F;ENSP00000445905:L636F	ENSP00000270530:L625F	L	+	1	0	EVI5L	7833379	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.808000	0.55598	2.315000	0.78130	0.550000	0.68814	CTC	0	NULL		0.711	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	protein_coding	OTTHUMT00000461347.1	19	19	0	0.00	0	0	C	NM_145245	0	0		7927379	1	no_errors	ENST00000538904	ensembl	human	known	74_37	missense	15	10	21.05	0.00	4	0	SNP	1	T
LOC100996415	100996415	genome.wustl.edu	37	22	20343332	20343332	+	RNA	SNP	A	A	G			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr22:20343332A>G	ENST00000454636.1	+	0	2025				XXbac-B33L19.6_ENST00000429995.1_lincRNA	NR_038388.1																						TGTACACAACATCGCTAATGA	0.458																																							0											0																																												0																															22.37:g.20343332A>G				RNA	SNP	0	NULL	ENST00000454636.1	37	NULL		22																																																																																			0	0		0.458	XXbac-B33L19.3-001	KNOWN	not_best_in_genome_evidence|basic	antisense	LOC100996415	antisense	OTTHUMT00000319010.2	25	6	0	0.00	0	0	A		0	0		20343332	1	no_errors	ENST00000454636	ensembl	human	known	74_37	rna	32	10	8.57	0.00	3	0	SNP	0.12	G
SAP30L	79685	genome.wustl.edu	37	5	153826204	153826204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZB-A96Q-01A-11D-A428-09	TCGA-ZB-A96Q-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3db163fe-386d-4492-a269-6288aa6cba9f	4d446598-e198-464c-b665-589a2857cedf	g.chr5:153826204delC	ENST00000297109.6	+	1	688	c.40delC	c.(40-42)cccfs	p.P15fs	SAP30L_ENST00000440364.2_Frame_Shift_Del_p.P15fs|SAP30L-AS1_ENST00000501280.3_RNA|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000522312.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L_ENST00000426761.2_Frame_Shift_Del_p.P15fs|SAP30L_ENST00000523198.1_3'UTR	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCGCGAAgggccccccgccgc	0.776																																							0											0													2.0	3.0	3.0					5																	153826204		1487	3110	4597	SO:0001589	frameshift_variant	0			AY341060	CCDS4326.1, CCDS47321.1, CCDS47322.1	5q33.2	2008-02-05			ENSG00000164576	ENSG00000164576			25663	protein-coding gene	gene with protein product		610398				14680513	Standard	NM_001131062		Approved	FLJ11526, NS4ATP2	uc003lvk.3	Q9HAJ7	OTTHUMG00000130146	ENST00000297109.6:c.40delC	5.37:g.153826204delC	ENSP00000297109:p.Pro15fs		E9PAU7|E9PAY2	Frame_Shift_Del	DEL	NULL	p.A16fs	ENST00000297109.6	37	c.40	CCDS4326.1	5																																																																																			0	NULL		0.776	SAP30L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30L	protein_coding	OTTHUMT00000252454.3	9	16	0	0.00	0	0	C	NM_024632	0	0		153826204	1	no_errors	ENST00000297109	ensembl	human	known	74_37	frame_shift_del	5	9	28.57	0.00	2	0	DEL	1	0
