#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Confidence	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_dbSNPPopFreq	i_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
WDR64	128025	hgsc.bcm.edu	37	1	241959614	241959614	+	Missense_Mutation	SNP	A	A	G			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr1:241959614A>G	ENST00000366552.2	+	26	3311	c.3104A>G	c.(3103-3105)aAg>aGg	p.K1035R	WDR64_ENST00000437684.2_Missense_Mutation_p.K868R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	1035										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGCCCAAAAGGACTCTTCA	0.408																																					p.K1035R		Atlas-SNP	.											.	WDR64	234	.	0			c.A3104G						PASS	.						107.0	99.0	101.0					1																	241959614		2203	4300	6503	SO:0001583	missense	128025	exon26			CCCAAAAGGACTC	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.3104A>G	chr1.hg19:g.241959614A>G	ENSP00000355510:p.Lys1035Arg	77.0	0.0	.		87.0	4.0	.	NM_144625	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.601|4.601	0.111704|0.111704	0.08831|0.08831	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635|ENST00000425826	T;T;T|.	0.39406|.	1.2;1.08;1.08|.	5.22|5.22	-5.72|-5.72	0.02406|0.02406	.|.	0.578909|.	0.16512|.	N|.	0.211202|.	T|T	0.15176|0.15176	0.0366|0.0366	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.08055|.	0.003;0.0|.	T|T	0.33266|0.33266	-0.9875|-0.9875	10|5	0.11794|.	T|.	0.64|.	-0.7601|-0.7601	8.4526|8.4526	0.32880|0.32880	0.6919:0.0:0.1815:0.1266|0.6919:0.0:0.1815:0.1266	.|.	1035;588|.	B1ANS9;D1MPS4|.	WDR64_HUMAN;.|.	R|G	1035;868;639|514	ENSP00000355510:K1035R;ENSP00000402446:K868R;ENSP00000406656:K639R|.	ENSP00000355510:K1035R|.	K|R	+|+	2|1	0|2	WDR64|WDR64	240026237|240026237	0.540000|0.540000	0.26410|0.26410	0.074000|0.074000	0.20217|0.20217	0.023000|0.023000	0.10783|0.10783	-0.383000|-0.383000	0.07398|0.07398	-0.978000|-0.978000	0.03533|0.03533	-0.376000|-0.376000	0.06991|0.06991	AAG|AGG	.	.	.	none		0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625	
MARCO	8685	hgsc.bcm.edu	37	2	119727691	119727691	+	Splice_Site	SNP	T	T	A			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr2:119727691T>A	ENST00000327097.4	+	3	336	c.201T>A	c.(199-201)gtT>gtA	p.V67V	MARCO_ENST00000541757.1_De_novo_Start_InFrame	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	67					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGCCCAGTTCTGAATCTGC	0.542																																					p.V67V	GBM(8;18 374 7467 11269 32796)	Atlas-SNP	.											.	MARCO	120	.	0			c.T201A						PASS	.						57.0	67.0	63.0					2																	119727691		2201	4300	6501	SO:0001630	splice_region_variant	8685	exon3			CCCAGTTCTGAAT	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.200-1T>A	chr2.hg19:g.119727691T>A		24.0	0.0	.		64.0	12.0	.	NM_006770	B4DW79|Q9Y5S3	Silent	SNP	ENST00000327097.4	hg19	CCDS2124.1																																																																																			.	.	.	none		0.542	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770	Silent
KIF1A	547	hgsc.bcm.edu	37	2	241696843	241696843	+	Intron	SNP	C	C	A	rs537608637|rs10594016|rs533559120		TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr2:241696843C>A	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.E917D	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		cctcctcatcctcctcctcct	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		8551	0.0		0.0	False		,,,				2504	0.0				p.E917D		Atlas-SNP	.											.	KIF1A	152	.	0			c.G2751T						PASS	.																																			SO:0001627	intron_variant	547	exon27			CTCATCCTCCTCC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+933G>T	chr2.hg19:g.241696843C>A		177.0	0.0	.		132.0	6.0	.	NM_001244008	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	hg19	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825706	0.16749	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.73047	-0.63;-0.71	4.04	3.16	0.36331	.	.	.	.	.	T	0.50429	0.1615	.	.	.	0.27599	N	0.949023	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.21690	-1.0238	8	0.08381	T	0.77	.	12.6857	0.56946	0.1669:0.833:0.0:0.0	.	917;917	F5H045;Q12756-2	.;.	D	917	ENSP00000438388:E917D;ENSP00000384231:E917D	ENSP00000362405:E917D	E	-	3	2	KIF1A	241345516	0.997000	0.39634	0.999000	0.59377	0.888000	0.51559	0.203000	0.17315	0.685000	0.31468	-0.372000	0.07161	GAG	.	.	.	none		0.682	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
EIF4G1	1981	hgsc.bcm.edu	37	3	184035257	184035257	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr3:184035257C>T	ENST00000346169.2	+	5	567	c.296C>T	c.(295-297)tCc>tTc	p.S99F	EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S106F|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S59F|EIF4G1_ENST00000342981.4_Missense_Mutation_p.S99F|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S12F|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S99F|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S12F|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S106F|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S59F|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S106F|EIF4G1_ENST00000441154.1_5'Flank	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	99					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCCAGCCTCCCAGGGGGCC	0.612																																					p.S106F		Atlas-SNP	.											.	EIF4G1	151	.	0			c.C317T						PASS	.						47.0	53.0	51.0					3																	184035257		2203	4300	6503	SO:0001583	missense	1981	exon6			CAGCCTCCCAGGG	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.296C>T	chr3.hg19:g.184035257C>T	ENSP00000316879:p.Ser99Phe	145.0	0.0	.		98.0	23.0	.	NM_001194946	D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	hg19	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539596	0.85917	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37411	1.98;1.98;1.2;1.98;1.98;1.98;1.2;1.2;1.98;1.2;1.2;1.98;1.98;1.98;1.2;1.98	5.08	4.16	0.48862	.	0.514295	0.20823	N	0.085028	T	0.31702	0.0805	L	0.43152	1.355	0.54753	D	0.999989	P;P;P	0.41947	0.766;0.766;0.766	B;B;B	0.37198	0.243;0.243;0.243	T	0.28808	-1.0032	10	0.56958	D	0.05	-13.2414	15.7036	0.77560	0.0:0.8635:0.1365:0.0	.	106;99;99	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	F	99;59;12;99;106;106;59;99;106;66;12;99;99;106;59;59	ENSP00000316879:S99F;ENSP00000391935:S59F;ENSP00000376320:S12F;ENSP00000391412:S99F;ENSP00000413159:S106F;ENSP00000371767:S106F;ENSP00000415842:S59F;ENSP00000407240:S99F;ENSP00000338020:S106F;ENSP00000411214:S66F;ENSP00000407682:S12F;ENSP00000343450:S99F;ENSP00000323737:S99F;ENSP00000416255:S106F;ENSP00000415943:S59F;ENSP00000395974:S59F	ENSP00000323737:S99F	S	+	2	0	EIF4G1	185517951	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.833000	0.55790	2.640000	0.89533	0.655000	0.94253	TCC	.	.	.	none		0.612	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
MUC4	4585	hgsc.bcm.edu	37	3	195510011	195510011	+	Missense_Mutation	SNP	C	C	T	rs28375716		TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr3:195510011C>T	ENST00000463781.3	-	2	8899	c.8440G>A	c.(8440-8442)Gcc>Acc	p.A2814T	MUC4_ENST00000475231.1_Missense_Mutation_p.A2814T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGAGGTGGCGTGACCTGTG	0.587																																					p.A2814T		Atlas-SNP	.											.	MUC4	1505	.	0			c.G8440A						PASS	.						70.0	44.0	52.0					3																	195510011		685	1518	2203	SO:0001583	missense	4585	exon2			AGGTGGCGTGACC	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8440G>A	chr3.hg19:g.195510011C>T	ENSP00000417498:p.Ala2814Thr	10.0	0.0	.		43.0	9.0	.	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	8.082	0.772585	0.16051	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34472	1.37;1.36	.	.	.	.	.	.	.	.	T	0.23330	0.0564	N	0.19112	0.55	0.09310	N	0.999993	D	0.53312	0.959	P	0.45971	0.499	T	0.13575	-1.0504	7	.	.	.	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	2686	E7ESK3	.	T	2814	ENSP00000417498:A2814T;ENSP00000420243:A2814T	.	A	-	1	0	MUC4	196994790	0.001000	0.12720	0.022000	0.16811	0.020000	0.10135	-2.830000	0.00744	-0.000000	0.14550	0.000000	0.15137	GCC	.	.	.	none		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ETV1	2115	hgsc.bcm.edu	37	7	13946127	13946127	+	Silent	SNP	A	A	G			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr7:13946127A>G	ENST00000430479.1	-	12	1705	c.1038T>C	c.(1036-1038)gaT>gaC	p.D346D	ETV1_ENST00000242066.5_Silent_p.D328D|ETV1_ENST00000405358.4_Silent_p.D360D|ETV1_ENST00000405218.2_Silent_p.D346D|ETV1_ENST00000399357.3_Silent_p.D243D|ETV1_ENST00000403685.1_Silent_p.D328D|ETV1_ENST00000403527.1_Silent_p.D306D|ETV1_ENST00000343495.5_Silent_p.D328D|ETV1_ENST00000420159.2_Silent_p.D288D|ETV1_ENST00000405192.2_Silent_p.D323D	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	346					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGAAGGGTCATCCAGAAGAG	0.433			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																p.D346D		Atlas-SNP	.		Dom	yes		7	7p22	2115	ets variant gene 1		"""M, E"""	.	ETV1	138	.	0			c.T1038C						PASS	.						69.0	70.0	69.0					7																	13946127		1894	4131	6025	SO:0001819	synonymous_variant	2115	exon12			AGGGTCATCCAGA		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1038T>C	chr7.hg19:g.13946127A>G		156.0	0.0	.		217.0	31.0	.	NM_004956	A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	hg19	CCDS55088.1																																																																																			.	.	.	none		0.433	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956	
AP3M1	26985	hgsc.bcm.edu	37	10	75889698	75889698	+	Silent	SNP	T	T	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr10:75889698T>C	ENST00000355264.4	-	5	947	c.636A>G	c.(634-636)ctA>ctG	p.L212L	AP3M1_ENST00000372745.1_Silent_p.L212L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	212	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|protein targeting to lysosome (GO:0006622)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	Rab GTPase binding (GO:0017137)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GCATTCCAGATAGTTTAATGC	0.358																																					p.L212L		Atlas-SNP	.											.	AP3M1	28	.	0			c.A636G						PASS	.						133.0	125.0	128.0					10																	75889698		2203	4300	6503	SO:0001819	synonymous_variant	26985	exon6			TCCAGATAGTTTA	AF092092	CCDS7342.1	10q22.1-q22.3	2008-07-07			ENSG00000185009	ENSG00000185009			569	protein-coding gene	gene with protein product		610366				10024875	Standard	NM_207012		Approved		uc001jwh.3	Q9Y2T2	OTTHUMG00000018497	ENST00000355264.4:c.636A>G	chr10.hg19:g.75889698T>C		64.0	0.0	.		55.0	18.0	.	NM_207012	Q5JQ12|Q9H5L2	Silent	SNP	ENST00000355264.4	hg19	CCDS7342.1																																																																																			.	.	.	none		0.358	AP3M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048747.1		
IFITM3	10410	hgsc.bcm.edu	37	11	320733	320733	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr11:320733G>C	ENST00000399808.4	-	1	317	c.81C>G	c.(79-81)caC>caG	p.H27Q	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.H6Q|RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.H6Q|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	27					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCCACCTCGTGCTCCTCCT	0.617																																					p.H27Q		Atlas-SNP	.											IFITM3,brain,glioma,0,1	IFITM3	132	.	0			c.C81G						PASS	.						92.0	104.0	100.0					11																	320733		1948	4127	6075	SO:0001583	missense	10410	exon1			CACCTCGTGCTCC	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.81C>G	chr11.hg19:g.320733G>C	ENSP00000382707:p.His27Gln	44.0	2.0	.		47.0	3.0	.	NM_021034	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	hg19	CCDS41585.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973443	0.34848	.	.	ENSG00000142089	ENST00000399808;ENST00000270031;ENST00000526811	T;T	0.77877	-0.81;-1.13	4.61	-4.17	0.03857	.	0.761271	0.10830	U	0.629401	T	0.59985	0.2234	L	0.46885	1.475	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.47315	-0.9127	10	0.09590	T	0.72	-2.442	3.6745	0.08287	0.4606:0.0:0.2595:0.2799	.	27	Q01628	IFM3_HUMAN	Q	27;11;6	ENSP00000382707:H27Q;ENSP00000432108:H6Q	ENSP00000372047:H11Q	H	-	3	2	IFITM3	310733	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-3.370000	0.00494	-0.556000	0.06134	0.461000	0.40582	CAC	.	.	.	weak		0.617	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
RNF10	9921	hgsc.bcm.edu	37	12	121013657	121013657	+	Missense_Mutation	SNP	C	C	T			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr12:121013657C>T	ENST00000325954.4	+	16	2724	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	RNF10_ENST00000413266.2_Missense_Mutation_p.R760C|RNF10_ENST00000542701.1_3'UTR	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	755					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATTCAGACCGTGTTCCTGT	0.453																																					p.R755C		Atlas-SNP	.											.	RNF10	75	.	0			c.C2263T						PASS	.						183.0	188.0	186.0					12																	121013657		2203	4300	6503	SO:0001583	missense	9921	exon16			TCAGACCGTGTTC	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.2263C>T	chr12.hg19:g.121013657C>T	ENSP00000322242:p.Arg755Cys	53.0	0.0	.		72.0	4.0	.	NM_014868	Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	hg19	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.691846	0.68271	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000538254	D;D	0.89810	-2.57;-2.56	5.39	5.39	0.77823	.	0.219513	0.48767	D	0.000176	D	0.91002	0.7170	L	0.55481	1.735	0.80722	D	1	D;D	0.62365	0.991;0.979	P;B	0.52424	0.698;0.42	D	0.91486	0.5208	10	0.59425	D	0.04	.	19.1841	0.93635	0.0:1.0:0.0:0.0	.	760;755	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	C	755;755;760;90	ENSP00000322242:R755C;ENSP00000415682:R760C	ENSP00000322242:R755C	R	+	1	0	RNF10	119498040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.590000	0.67530	2.537000	0.85549	0.655000	0.94253	CGT	.	.	.	none		0.453	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4		
ZNF268	10795	hgsc.bcm.edu	37	12	133764464	133764464	+	Missense_Mutation	SNP	C	C	T	rs200829573		TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr12:133764464C>T	ENST00000536435.2	+	3	370	c.40C>T	c.(40-42)Cct>Tct	p.P14S	ZNF268_ENST00000228289.5_Missense_Mutation_p.P14S|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000539248.2_Missense_Mutation_p.P14S|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000541009.2_Missense_Mutation_p.P14S|ZNF268_ENST00000536899.2_Intron|ZNF268_ENST00000541211.2_Missense_Mutation_p.P14S|ZNF268_ENST00000542986.2_Missense_Mutation_p.P14S|ZNF268_ENST00000416488.1_Missense_Mutation_p.P179S|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.P179S|ZNF268_ENST00000542711.2_Intron	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	14					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACAGGTCCCACCTCTCCAAGA	0.478																																					p.P14S		Atlas-SNP	.											ZNF268,NS,carcinoma,0,1	ZNF268	71	.	0			c.C40T						PASS	.	C	SER/PRO,,SER/PRO,,SER/PRO,,,SER/PRO,SER/PRO	0,3738		0,0,1869	28.0	27.0	27.0		40,,40,,40,,,40,40	1.3	1.0	12		27	6,8220		0,6,4107	yes	missense,utr-5,missense,intron,missense,intron,intron,missense,missense	ZNF268	NM_001165881.2,NM_001165882.2,NM_001165883.1,NM_001165884.2,NM_001165885.1,NM_001165886.1,NM_001165887.1,NM_003415.2,NM_152943.2	74,,74,,74,,,74,74	0,6,5976	TT,TC,CC		0.0729,0.0,0.0502	probably-damaging,,probably-damaging,,probably-damaging,,,probably-damaging,probably-damaging	14/948,,14/136,,14/168,,,14/948,14/194	133764464	6,11958	1869	4113	5982	SO:0001583	missense	10795	exon3			GTCCCACCTCTCC	X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.40C>T	chr12.hg19:g.133764464C>T	ENSP00000444412:p.Pro14Ser	60.0	0.0	.		105.0	23.0	.	NM_152943	Q8TDG8|Q96RH4|Q9BZJ9	Missense_Mutation	SNP	ENST00000536435.2	hg19	CCDS45012.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070813	0.36566	0.0	7.29E-4	ENSG00000090612	ENST00000416488;ENST00000541009;ENST00000536435;ENST00000228289;ENST00000541211;ENST00000541975	T;T;T;T	0.08282	4.89;4.79;3.11;3.11	3.37	1.33	0.21861	.	.	.	.	.	T	0.04318	0.0119	N	0.19112	0.55	0.80722	D	1	B	0.20368	0.044	B	0.13407	0.009	T	0.40289	-0.9571	8	.	.	.	.	4.2438	0.10662	0.0:0.6255:0.2396:0.1349	.	14	Q14587	ZN268_HUMAN	S	179;14;14;14;14;14	ENSP00000409295:P179S;ENSP00000439539:P14S;ENSP00000444412:P14S;ENSP00000228289:P14S	.	P	+	1	0	ZNF268	132274537	0.791000	0.28800	0.974000	0.42286	0.365000	0.29674	0.980000	0.29513	0.779000	0.33543	-0.258000	0.10820	CCT	.	C|0.998;T|0.002	0.002	weak		0.478	ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943	
KRT24	192666	hgsc.bcm.edu	37	17	38855731	38855731	+	Missense_Mutation	SNP	G	G	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr17:38855731G>C	ENST00000264651.2	-	6	1382	c.1326C>G	c.(1324-1326)atC>atG	p.I442M		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	442	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGTAGGTCTCGATCTCCACCT	0.473																																					p.I442M	GBM(61;380 1051 14702 23642 31441)	Atlas-SNP	.											.	KRT24	60	.	0			c.C1326G						PASS	.						156.0	154.0	154.0					17																	38855731		2203	4300	6503	SO:0001583	missense	192666	exon6			GGTCTCGATCTCC		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1326C>G	chr17.hg19:g.38855731G>C	ENSP00000264651:p.Ile442Met	74.0	0.0	.		78.0	22.0	.	NM_019016	Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	hg19	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511147	0.64522	.	.	ENSG00000167916	ENST00000264651	D	0.95518	-3.73	5.62	-1.6	0.08426	Filament (1);Intermediate filament protein, conserved site (1);	.	.	.	.	D	0.98178	0.9398	H	0.98295	4.195	0.42436	D	0.992697	D	0.89917	1.0	D	0.97110	1.0	D	0.96395	0.9292	9	0.87932	D	0	.	8.0643	0.30651	0.5304:0.0:0.3664:0.1033	.	442	Q2M2I5	K1C24_HUMAN	M	442	ENSP00000264651:I442M	ENSP00000264651:I442M	I	-	3	3	KRT24	36109257	0.845000	0.29573	0.994000	0.49952	0.971000	0.66376	-0.007000	0.12810	-0.225000	0.09913	0.591000	0.81541	ATC	.	.	.	none		0.473	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
RBM10	8241	hgsc.bcm.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					p.E184D	Melanoma(171;120 2705 19495 39241)	Atlas-SNP	.											.	RBM10	117	.	0			c.G552T						PASS	.						20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241	exon4			GGAGGAGGATGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	chrX.hg19:g.47030582G>T	ENSP00000366829:p.Glu119Asp	90.0	0.0	.		65.0	5.0	.	NM_001204468	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	hg19	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG	.	.	.	none		0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676	
KRTAP5-4	387267	hgsc.bcm.edu	37	11	1643084	1643085	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr11:1643084_1643085insC	ENST00000399682.1	-	1	283_284	c.239_240insG	c.(238-240)ggcfs	p.G80fs		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCATAGCCCCCCTTGGA	0.658																																					p.G80fs		Atlas-INDEL	.											KRTAP5-4,right_lower_lobe,carcinoma,0,1	KRTAP5-4	78	.	0			c.240_241insG						PASS	.																																			SO:0001589	frameshift_variant	387267	exon1			.	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.240dupG	chr11.hg19:g.1643090_1643090dupC	ENSP00000382590:p.Gly80fs	228.0	0.0	0		256.0	19.0	0.0742188	NM_001012709		Frame_Shift_Ins	INS	ENST00000399682.1	hg19																																																																																				.	.	.	none		0.658	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
RIMBP3B	440804	hgsc.bcm.edu	37	22	21741340	21741341	+	In_Frame_Ins	INS	-	-	TGCAGG	rs555102406	byFrequency	TCGA-2Z-A9JI-01A-11D-A42J-10	TCGA-2Z-A9JI-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	5bfd6e6f-8fab-42fd-a989-337b66a1d899	df9506ba-fa32-4644-b582-2207bd0595fc	g.chr22:21741340_21741341insTGCAGG	ENST00000434111.1	+	1	3678_3679	c.3193_3194insTGCAGG	c.(3193-3195)ctg>cTGCAGGtg	p.1067_1068insQV	RN7SKP63_ENST00000363187.1_RNA|SCARNA17_ENST00000516211.1_RNA|SCARNA18_ENST00000516505.1_RNA	NM_001128635.1	NP_001122107.1	A6NNM3	RIM3B_HUMAN	RIMS binding protein 3B	1067	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.																ATGGGACTTGCTGCAGGTGTAT	0.663																																					p.L1065delinsLQV		Pindel	.											.	RIMBP3C	6	.	0			c.3193_3194insTGCAGG						PASS	.			6,24		3,0,12						-2.0	0.0			1	7,131		3,1,65	no	coding	RIMBP3B	NM_001128635.1		6,1,77	A1A1,A1R,RR		5.0725,20.0,7.7381				13,155				SO:0001652	inframe_insertion	150221	exon1			.		CCDS46668.1	22q11.21	2008-10-23			ENSG00000196934	ENSG00000274600			33891	protein-coding gene	gene with protein product		612700				17855024	Standard	NM_001128635		Approved			A6NNM3	OTTHUMG00000150819	ENST00000434111.1:c.3194_3199dupTGCAGG	chr22.hg19:g.21741341_21741346dupTGCAGG	ENSP00000407925:p.Gln1066_Val1067dup	15.0	0.0	.		7.0	23.0	3.286	NM_001128633		In_Frame_Ins	INS	ENST00000434111.1	hg19	CCDS46668.1																																																																																			.	.	.	none		0.663	RIMBP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320196.2	XM_036936	
