#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
PACRG	135138	genome.wustl.edu	37	6	163483279	163483279	+	Missense_Mutation	SNP	G	G	T	rs374040289		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:163483279G>T	ENST00000337019.3	+	4	613	c.389G>T	c.(388-390)gGa>gTa	p.G130V	PACRG_ENST00000366889.2_Missense_Mutation_p.G130V|PACRG_ENST00000366888.2_Missense_Mutation_p.G130V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	130					spermatid development (GO:0007286)	cell body (GO:0044297)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm midpiece (GO:0097225)				endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		GCTCGGCAAGGAATCCACGAC	0.433													ENSG00000112530																																					0								G	VAL/GLY,VAL/GLY,VAL/GLY	0,4406		0,0,2203	101.0	96.0	98.0		389,389,389	4.8	1.0	6		98	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	PACRG	NM_001080378.1,NM_001080379.1,NM_152410.2	109,109,109	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	130/258,130/258,130/297	163483279	2,13004	2203	4300	6503	SO:0001583	missense	0			-	AK057286	CCDS5284.1, CCDS43524.1	6q26	2004-07-01			ENSG00000112530	ENSG00000112530			19152	protein-coding gene	gene with protein product		608427				12547187	Standard	NM_001080378		Approved	PARK2CRG, FLJ32724, Glup, HAK005771	uc003qua.3	Q96M98	OTTHUMG00000016116	ENST00000337019.3:c.389G>T	6.37:g.163483279G>T	ENSP00000337946:p.Gly130Val		E1P5B5|Q6IMB8|Q8IZM1|Q8NHP5|Q9H1V9	Missense_Mutation	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.G130V	ENST00000337019.3	37	c.389	CCDS5284.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.430739|4.430739	0.83776|0.83776	0.0|0.0	2.33E-4|2.33E-4	ENSG00000112530|ENSG00000112530	ENST00000337019;ENST00000366889;ENST00000366888|ENST00000534958	T;T;T|.	0.66280|.	-0.13;-0.2;-0.2|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84520|0.84520	0.5490|0.5490	M|M	0.92691|0.92691	3.335|3.335	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.998;1.0|.	D|D	0.88560|0.88560	0.3122|0.3122	10|5	0.87932|.	D|.	0|.	-11.5199|-11.5199	18.3664|18.3664	0.90392|0.90392	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;130|.	Q96M98-2;Q96M98|.	.;PACRG_HUMAN|.	V|S	130|45	ENSP00000337946:G130V;ENSP00000355855:G130V;ENSP00000355854:G130V|.	ENSP00000337946:G130V|.	G|R	+|+	2|3	0|2	PACRG|PACRG	163403269|163403269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.366000|9.366000	0.97143|0.97143	2.401000|2.401000	0.81631|0.81631	0.609000|0.609000	0.83330|0.83330	GGA|AGG	-	PACRG	-	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold		0.433	PACRG-003	KNOWN	basic|CCDS	protein_coding	PACRG	HGNC	protein_coding	OTTHUMT00000400424.1	0	0	0	47	47	106	0.00	0.00	G	NM_152410		163483279	+1	5	24	17	58	tier1	no_errors	ENST00000337019	ensembl	human	known	74_37	missense	22.73	29.27	SNP	1.000	T	5	17
INTS1	26173	genome.wustl.edu	37	7	1538144	1538144	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:1538144C>A	ENST00000404767.3	-	10	1414	c.1329G>T	c.(1327-1329)aaG>aaT	p.K443N	INTS1_ENST00000389470.4_Missense_Mutation_p.K571N|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	443					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGATCACCAACTTGATGGTGG	0.622													ENSG00000164880																																					0													96.0	110.0	105.0					7																	1538144		2139	4239	6378	SO:0001583	missense	0			-	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1329G>T	7.37:g.1538144C>A	ENSP00000385722:p.Lys443Asn		A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.K571N	ENST00000404767.3	37	c.1713	CCDS47526.1	7	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448908	0.63178	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.54675	2.43;0.56	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.73477	-0.3970	10	0.87932	D	0	.	12.4065	0.55443	0.0:0.9175:0.0:0.0825	.	571;443	A4D212;Q8N201	.;INT1_HUMAN	N	443;571	ENSP00000385722:K443N;ENSP00000374121:K571N	ENSP00000374121:K571N	K	-	3	2	INTS1	1504670	1.000000	0.71417	0.999000	0.59377	0.378000	0.30076	2.044000	0.41241	2.216000	0.71823	0.591000	0.81541	AAG	-	INTS1	-	NULL		0.622	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	0	0	0	80	80	93	0.00	0.00	C			1538144	-1	5	12	47	102	tier1	no_errors	ENST00000389470	ensembl	human	known	74_37	missense	9.62	10.53	SNP	1.000	A	5	47
GOLGB1	2804	genome.wustl.edu	37	3	121413302	121413302	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr3:121413302T>A	ENST00000340645.5	-	13	6178	c.6053A>T	c.(6052-6054)cAa>cTa	p.Q2018L	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q2023L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2018					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TACTTCTTGTTGTTTTTCTTT	0.368													ENSG00000173230																																					0													149.0	153.0	152.0					3																	121413302		2203	4299	6502	SO:0001583	missense	0			-	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6053A>T	3.37:g.121413302T>A	ENSP00000341848:p.Gln2018Leu		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Q2018L	ENST00000340645.5	37	c.6053	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387279	0.42308	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.22134	1.97;1.97	5.21	5.21	0.72293	.	0.000000	0.48767	D	0.000178	T	0.44582	0.1300	M	0.71581	2.175	0.54753	D	0.999987	D;D;D;D	0.89917	0.996;0.996;1.0;1.0	D;D;D;D	0.87578	0.99;0.99;0.997;0.998	T	0.33777	-0.9855	10	0.46703	T	0.11	.	13.0741	0.59077	0.0:0.0:0.0:1.0	.	1943;2023;2023;2018	F1T0J2;E7EP74;B2ZZ91;Q14789	.;.;.;GOGB1_HUMAN	L	2018;2023	ENSP00000341848:Q2018L;ENSP00000377275:Q2023L	ENSP00000341848:Q2018L	Q	-	2	0	GOLGB1	122895992	1.000000	0.71417	0.935000	0.37517	0.989000	0.77384	7.778000	0.85637	2.174000	0.68829	0.533000	0.62120	CAA	-	GOLGB1	-	superfamily_Prefoldin		0.368	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	0	0	0	14	14	90	0.00	0.00	T	NM_004487		121413302	-1	7	14	4	83	tier1	no_errors	ENST00000340645	ensembl	human	known	74_37	missense	63.64	14.43	SNP	1.000	A	7	4
NPTXR	23467	genome.wustl.edu	37	22	39222586	39222586	+	Silent	SNP	G	G	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:39222586G>A	ENST00000333039.2	-	3	1140	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	339	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCACTGAGTAGGAGAAGGGGG	0.667													ENSG00000221890																									Pancreas(139;2521 3281 36965)												0													67.0	64.0	65.0					22																	39222586		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1017C>T	22.37:g.39222586G>A				Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.S339	ENST00000333039.2	37	c.1017	CCDS33647.1	22																																																																																			-	NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.667	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2	0	0	0	75	75	34	0.00	0.00	G	NM_014293		39222586	-1	11	3	39	17	tier1	no_errors	ENST00000333039	ensembl	human	known	74_37	silent	22.00	15.00	SNP	1.000	A	11	39
LAMA4	3910	genome.wustl.edu	37	6	112476928	112476928	+	Intron	SNP	G	G	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:112476928G>T	ENST00000230538.7	-	15	2215				LAMA4_ENST00000522006.1_Intron|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Intron|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Intron|RP1-142L7.5_ENST00000588689.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AACAAACATTGTTATTTCTCC	0.363													ENSG00000237234																																					0													97.0	97.0	97.0					6																	112476928		2203	4300	6503	SO:0001627	intron_variant	0			-		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1818-20C>A	6.37:g.112476928G>T			Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	R	SNP	-	NULL	ENST00000230538.7	37	NULL	CCDS43491.1	6																																																																																			-	RP1-142L7.5	-	-		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000237234	Clone_based_vega_gene	protein_coding	OTTHUMT00000041876.2	0	0	0	59	59	117	0.00	0.00	G	NM_001105206		112476928	+1	7	27	25	118	tier1	no_errors	ENST00000588689	ensembl	human	known	74_37	rna	21.88	18.62	SNP	0.000	T	7	25
ANHX	647589	genome.wustl.edu	37	12	133803696	133803696	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr12:133803696A>G	ENST00000545940.1	-	4	2282	c.544T>C	c.(544-546)Tac>Cac	p.Y182H	ANHX_ENST00000419717.1_Missense_Mutation_p.Y182H			E9PGG2	ANHX_HUMAN	anomalous homeobox	182					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)										AACCAGTTGTACACCTGCTCA	0.592													ENSG00000227059																																					0																																										SO:0001583	missense	0			-		CCDS53855.1	12q24.33	2012-05-18			ENSG00000227059	ENSG00000227059			40024	protein-coding gene	gene with protein product							Standard	NM_001191054		Approved		uc010tci.2	E9PGG2	OTTHUMG00000167949	ENST00000545940.1:c.544T>C	12.37:g.133803696A>G	ENSP00000439513:p.Tyr182His		Q96MC1	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.Y182H	ENST00000545940.1	37	c.544	CCDS53855.1	12	.	.	.	.	.	.	.	.	.	.	.	11.35	1.613294	0.28712	.	.	ENSG00000227059	ENST00000545940;ENST00000419717	D;D	0.96136	-3.92;-3.92	4.4	1.79	0.24919	.	.	.	.	.	D	0.88507	0.6455	N	0.16743	0.435	0.22401	N	0.999133	P	0.38922	0.651	B	0.40066	0.318	T	0.80917	-0.1168	8	.	.	.	.	3.2746	0.06894	0.6826:0.0:0.1138:0.2036	.	182	E9PGG2	.	H	182	ENSP00000439513:Y182H;ENSP00000409950:Y182H	.	Y	-	1	0	AC226150.2	.	0.972000	0.33761	0.637000	0.29366	0.650000	0.38633	1.545000	0.36169	0.665000	0.31066	0.455000	0.32223	TAC	-	ANHX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom		0.592	ANHX-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ANHX	HGNC	protein_coding	OTTHUMT00000397203.1	0	0	0	99	99	75	0.00	0.00	A			133803696	-1	36	41	40	51	tier1	no_errors	ENST00000419717	ensembl	human	known	74_37	missense	47.37	44.57	SNP	0.746	G	36	40
FOXRED2	80020	genome.wustl.edu	37	22	36894076	36894076	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:36894076C>G	ENST00000397224.4	-	6	1437	c.1344G>C	c.(1342-1344)caG>caC	p.Q448H	FOXRED2_ENST00000216187.6_Missense_Mutation_p.Q448H|FOXRED2_ENST00000366463.3_5'UTR|FOXRED2_ENST00000397223.4_Missense_Mutation_p.Q448H	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	448					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACCGAACATCTGGTAGAGCC	0.637													ENSG00000100350																																					0													88.0	82.0	84.0					22																	36894076		2203	4300	6503	SO:0001583	missense	0			-	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.1344G>C	22.37:g.36894076C>G	ENSP00000380401:p.Gln448His		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/D	p.Q448H	ENST00000397224.4	37	c.1344	CCDS13929.1	22	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039313	0.75617	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.23552	1.9;1.9;1.9	5.07	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	M	0.84846	2.72	0.58432	D	0.999997	D	0.54772	0.968	P	0.55087	0.768	T	0.49542	-0.8929	10	0.56958	D	0.05	-33.2634	10.203	0.43097	0.0:0.8447:0.0:0.1553	.	448	Q8IWF2	FXRD2_HUMAN	H	448	ENSP00000380401:Q448H;ENSP00000216187:Q448H;ENSP00000380400:Q448H	ENSP00000216187:Q448H	Q	-	3	2	FOXRED2	35224022	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.640000	0.37186	1.105000	0.41606	0.650000	0.86243	CAG	-	FOXRED2	-	NULL		0.637	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2	0	0	0	127	127	82	0.00	0.00	C	NM_024955		36894076	-1	22	11	53	48	tier1	no_errors	ENST00000216187	ensembl	human	known	74_37	missense	29.33	18.64	SNP	1.000	G	22	53
DMXL1	1657	genome.wustl.edu	37	5	118533525	118533525	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr5:118533525G>A	ENST00000311085.8	+	32	7699	c.7619G>A	c.(7618-7620)cGa>cAa	p.R2540Q	DMXL1_ENST00000539542.1_Missense_Mutation_p.R2540Q	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2540										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTCTCCGACGACTTGAAATC	0.433													ENSG00000172869																																					0													136.0	135.0	135.0					5																	118533525		2202	4300	6502	SO:0001583	missense	0			-	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7619G>A	5.37:g.118533525G>A	ENSP00000309690:p.Arg2540Gln			Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2540Q	ENST00000311085.8	37	c.7619	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989586	0.93106	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09723	2.96;2.95	5.41	5.41	0.78517	.	0.051242	0.85682	D	0.000000	T	0.17450	0.0419	L	0.47190	1.495	0.58432	D	0.999999	D;P	0.58268	0.982;0.895	P;B	0.48227	0.571;0.295	T	0.00857	-1.1538	10	0.30854	T	0.27	-8.6847	19.5578	0.95358	0.0:0.0:1.0:0.0	.	2540;2540	F5H269;Q9Y485	.;DMXL1_HUMAN	Q	2540	ENSP00000309690:R2540Q;ENSP00000439479:R2540Q	ENSP00000309690:R2540Q	R	+	2	0	DMXL1	118561424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.173000	0.77612	2.695000	0.91970	0.563000	0.77884	CGA	-	DMXL1	-	NULL		0.433	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	0	0	0	99	99	129	0.00	0.00	G	NM_005509		118533525	+1	17	29	77	122	tier1	no_errors	ENST00000539542	ensembl	human	known	74_37	missense	18.09	19.21	SNP	1.000	A	17	77
SOX6	55553	genome.wustl.edu	37	11	16119196	16119196	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:16119196C>A	ENST00000352083.6	-	8	1014	c.937G>T	c.(937-939)Gca>Tca	p.A313S	SOX6_ENST00000528252.1_Missense_Mutation_p.A313S|SOX6_ENST00000396356.3_Missense_Mutation_p.A313S|SOX6_ENST00000528429.1_Missense_Mutation_p.A313S|SOX6_ENST00000527619.1_Missense_Mutation_p.A316S|SOX6_ENST00000316399.6_Missense_Mutation_p.A313S			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	313	Poly-Ala.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GCAGCAGCTGCCATTGTTGAT	0.453													ENSG00000110693																																					0													99.0	99.0	99.0					11																	16119196		2200	4294	6494	SO:0001583	missense	0			-	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.937G>T	11.37:g.16119196C>A	ENSP00000339876:p.Ala313Ser		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.A313S	ENST00000352083.6	37	c.937		11	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858267	0.71834	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.98849	-5.08;-5.06;-5.08;-5.18;-5.17;-5.06	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	L	0.49126	1.545	0.80722	D	1	D;D;D	0.71674	0.982;0.998;0.996	P;D;D	0.76071	0.885;0.979;0.987	D	0.98600	1.0658	10	0.31617	T	0.26	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	313;313;316	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	S	313;313;313;313;316;313	ENSP00000324948:A313S;ENSP00000339876:A313S;ENSP00000379644:A313S;ENSP00000432134:A313S;ENSP00000434455:A316S;ENSP00000433233:A313S	ENSP00000324948:A313S	A	-	1	0	SOX6	16075772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.873000	0.98535	0.563000	0.77884	GCA	-	SOX6	-	NULL		0.453	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	0	0	1	55	55	92	0.00	1.08	C	NM_033326		16119196	-1	7	20	27	61	tier1	no_errors	ENST00000352083	ensembl	human	known	74_37	missense	20.59	24.69	SNP	1.000	A	7	27
SEMA4G	57715	genome.wustl.edu	37	10	102744515	102744515	+	3'UTR	SNP	T	T	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr10:102744515T>A	ENST00000370250.4	+	0	3517				MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000493646.1_5'Flank|SEMA4G_ENST00000210633.3_3'UTR|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000342071.1_Intron|SEMA4G_ENST00000517724.1_Nonsense_Mutation_p.C658*|MRPL43_ENST00000318325.2_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CAGCCCCATGTGGTGACCTCT	0.567													ENSG00000095539																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.*627T>A	10.37:g.102744515T>A			A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Nonsense_Mutation	SNP	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.C658*	ENST00000370250.4	37	c.1974		10	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	t|t|t	33|33|33	5.207230|5.207230|5.207230	0.95033|0.95033|0.95033	.|.|.	.|.|.	ENSG00000095539|ENSG00000095539|ENSG00000095539	ENST00000517724|ENST00000457585|ENST00000476171	.|.|.	.|.|.	.|.|.	4.51|4.51|4.51	3.3|3.3|3.3	0.37823|0.37823|0.37823	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.33847|0.33847	.|0.0877|0.0877	.|.|.	.|.|.	.|.|.	0.19300|0.19300|0.19300	N|N|N	0.999975|0.999975|0.999975	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.15607|0.15607	.|-1.0431|-1.0431	.|5|4	.|0.31617|.	.|T|.	.|0.26|.	.|.|.	7.3118|7.3118|7.3118	0.26479|0.26479|0.26479	0.1946:0.0:0.0:0.8054|0.1946:0.0:0.0:0.8054|0.1946:0.0:0.0:0.8054	.|.|.	.|.|.	.|.|.	.|.|.	X|E|R	658|537|121	.|.|.	.|ENSP00000405616:V537E|.	C|V|W	+|+|+	3|2|1	2|0|0	SEMA4G|SEMA4G|SEMA4G	102734505|102734505|102734505	0.824000|0.824000|0.824000	0.29247|0.29247|0.29247	0.042000|0.042000|0.042000	0.18584|0.18584|0.18584	0.960000|0.960000|0.960000	0.62799|0.62799|0.62799	1.046000|1.046000|1.046000	0.30354|0.30354|0.30354	1.891000|1.891000|1.891000	0.54761|0.54761|0.54761	0.375000|0.375000|0.375000	0.23000|0.23000|0.23000	TGT|GTG|TGG	-	SEMA4G	-	NULL		0.567	SEMA4G-002	KNOWN	basic	protein_coding	SEMA4G	HGNC	protein_coding	OTTHUMT00000049920.2	0	0	0	34	34	92	0.00	0.00	T			102744515	+1	9	31	23	74	tier1	no_errors	ENST00000517724	ensembl	human	putative	74_37	nonsense	28.12	29.52	SNP	0.005	A	9	23
SIDT2	51092	genome.wustl.edu	37	11	117064673	117064673	+	Silent	SNP	C	C	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:117064673C>T	ENST00000324225.4	+	24	2847	c.2316C>T	c.(2314-2316)acC>acT	p.T772T	SIDT2_ENST00000431081.2_Silent_p.T769T|SIDT2_ENST00000532062.1_Silent_p.T64T	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	772					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GACTCAGCACCTGGCAGGTGA	0.572													ENSG00000149577																																					0													72.0	66.0	68.0					11																	117064673		2201	4296	6497	SO:0001819	synonymous_variant	0			-	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2316C>T	11.37:g.117064673C>T			Q8NBY7|Q9Y357	Silent	SNP	NULL	p.T793	ENST00000324225.4	37	c.2379	CCDS31682.1	11																																																																																			-	SIDT2	-	NULL		0.572	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	0	0	0	25	25	50	0.00	0.00	C	NM_015996		117064673	+1	9	19	8	30	tier1	no_errors	ENST00000278951	ensembl	human	known	74_37	silent	52.94	38.78	SNP	1.000	T	9	8
ZNF879	345462	genome.wustl.edu	37	5	178459892	178459892	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr5:178459892C>A	ENST00000444149.2	+	5	1131	c.943C>A	c.(943-945)Ccc>Acc	p.P315T		NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AGGAGAGAAGCCCTATAAGTG	0.418													ENSG00000234284																																					0													51.0	47.0	48.0					5																	178459892		692	1591	2283	SO:0001583	missense	0			-	AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.943C>A	5.37:g.178459892C>A	ENSP00000414887:p.Pro315Thr			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P315T	ENST00000444149.2	37	c.943	CCDS47352.1	5	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213480	0.39102	.	.	ENSG00000234284	ENST00000444149	T	0.56275	0.47	4.36	3.48	0.39840	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63046	0.2478	L	0.58302	1.8	0.80722	D	1	D	0.64830	0.994	D	0.64237	0.923	T	0.63589	-0.6603	9	0.54805	T	0.06	-9.8943	9.9944	0.41891	0.0:0.8967:0.0:0.1033	.	315	B4DU55	ZN879_HUMAN	T	315	ENSP00000414887:P315T	ENSP00000414887:P315T	P	+	1	0	ZNF879	178392498	0.988000	0.35896	1.000000	0.80357	0.449000	0.32228	2.920000	0.48844	2.393000	0.81446	0.591000	0.81541	CCC	-	ZNF879	-	pfscan_Znf_C2H2		0.418	ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF879	HGNC	protein_coding	OTTHUMT00000374447.1	0	0	0	56	56	55	0.00	0.00	C	NM_001136116		178459892	+1	16	14	58	103	tier1	no_errors	ENST00000444149	ensembl	human	known	74_37	missense	21.62	11.97	SNP	1.000	A	16	58
USP28	57646	genome.wustl.edu	37	11	113711441	113711441	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:113711441T>G	ENST00000003302.4	-	5	481	c.413A>C	c.(412-414)aAg>aCg	p.K138T	USP28_ENST00000260188.5_Missense_Mutation_p.K138T|USP28_ENST00000545540.1_Missense_Mutation_p.K13T|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.K138T	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	138					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCGTTTTCTCTTTGAGCGTTT	0.423													ENSG00000048028																									Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													117.0	100.0	106.0					11																	113711441		2201	4296	6497	SO:0001583	missense	0			-	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.413A>C	11.37:g.113711441T>G	ENSP00000003302:p.Lys138Thr		B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67	p.K138T	ENST00000003302.4	37	c.413	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009498	0.75046	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	T;T;T;T	0.43294	1.25;1.26;0.95;1.67	5.75	5.75	0.90469	.	0.244071	0.46442	D	0.000297	T	0.65291	0.2677	M	0.73962	2.25	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;1.0;0.983;0.971	D;D;P;P	0.87578	0.917;0.998;0.883;0.862	T	0.67681	-0.5608	10	0.54805	T	0.06	-28.7226	15.7118	0.77635	0.0:0.0:0.0:1.0	.	138;13;138;138	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	T	138;138;13;138;66	ENSP00000003302:K138T;ENSP00000260188:K138T;ENSP00000444991:K13T;ENSP00000445743:K138T	ENSP00000003302:K138T	K	-	2	0	USP28	113216651	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.181000	0.69327	0.477000	0.44152	AAG	-	USP28	-	NULL		0.423	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	0	0	0	61	61	109	0.00	0.00	T			113711441	-1	16	43	33	80	tier1	no_errors	ENST00000003302	ensembl	human	known	74_37	missense	32.65	34.96	SNP	1.000	G	16	33
NAGLU	4669	genome.wustl.edu	37	17	40695606	40695606	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:40695606A>G	ENST00000225927.2	+	6	1683	c.1582A>G	c.(1582-1584)Agc>Ggc	p.S528G	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	528					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GATGAATACCAGCATCTGGTA	0.632													ENSG00000108784																																					0													25.0	23.0	24.0					17																	40695606		2191	4285	6476	SO:0001583	missense	0			-		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.1582A>G	17.37:g.40695606A>G	ENSP00000225927:p.Ser528Gly			Missense_Mutation	SNP	pfam_GLU_tim-barrel,superfamily_Glycoside_hydrolase_SF	p.S528G	ENST00000225927.2	37	c.1582	CCDS11427.1	17	.	.	.	.	.	.	.	.	.	.	A	1.312	-0.601787	0.03744	.	.	ENSG00000108784	ENST00000225927;ENST00000377405	D	0.98649	-5.05	4.69	-1.85	0.07784	Alpha-N-acetylglucosaminidase, C-terminal (1);	0.733388	0.14074	N	0.343180	D	0.94719	0.8296	L	0.33245	0.995	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	D	0.88217	0.2894	10	0.20046	T	0.44	-0.7028	7.0095	0.24855	0.3119:0.0:0.5377:0.1504	.	528	P54802	ANAG_HUMAN	G	528;204	ENSP00000225927:S528G	ENSP00000225927:S528G	S	+	1	0	NAGLU	37949132	0.021000	0.18746	0.018000	0.16275	0.306000	0.27790	0.899000	0.28417	-0.143000	0.11334	0.459000	0.35465	AGC	-	GLU	-	pfam_GLU_tim-barrel		0.632	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLU	HGNC	protein_coding	OTTHUMT00000450385.1	0	0	0	42	42	62	0.00	0.00	A	NM_000263		40695606	+1	5	13	20	30	tier1	no_errors	ENST00000225927	ensembl	human	known	74_37	missense	20.00	30.23	SNP	0.010	G	5	20
RASGEF1C	255426	genome.wustl.edu	37	5	179542375	179542375	+	Intron	SNP	C	C	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr5:179542375C>A	ENST00000393371.2	-	10	1380				RASGEF1C_ENST00000361132.4_Intron|RASGEF1C_ENST00000522500.1_Intron			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACTGTTAGACCAAAAGCAAT	0.478													ENSG00000146090																																					0																																										SO:0001627	intron_variant	0			-	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.1084-834G>T	5.37:g.179542375C>A			D3DWQ7|Q7Z4T0|Q8NA49	R	SNP	-	NULL	ENST00000393371.2	37	NULL	CCDS4452.1	5																																																																																			-	RASGEF1C	-	-		0.478	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	0	0	0	34	34	65	0.00	0.00	C	NM_175062		179542375	-1	6	17	42	116	tier1	no_errors	ENST00000519456	ensembl	human	known	74_37	rna	12.50	12.69	SNP	0.008	A	6	42
FANCM	57697	genome.wustl.edu	37	14	45633722	45633722	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr14:45633722G>C	ENST00000267430.5	+	10	1827	c.1742G>C	c.(1741-1743)cGt>cCt	p.R581P	FANCM_ENST00000556036.1_Missense_Mutation_p.R581P|FANCM_ENST00000542564.2_Missense_Mutation_p.R555P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	581	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GGCCGTAAACGTCAAGGCAGG	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				ENSG00000187790																																					0													68.0	63.0	65.0					14																	45633722		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	-	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1742G>C	14.37:g.45633722G>C	ENSP00000267430:p.Arg581Pro		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R581P	ENST00000267430.5	37	c.1742	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.116284	0.94339	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.04758	3.56;3.56;3.56	6.07	6.07	0.98685	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.991	T	0.02477	-1.1153	10	0.87932	D	0	.	20.2544	0.98414	0.0:0.0:1.0:0.0	.	555;581;581	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	P	581;581;555	ENSP00000450596:R581P;ENSP00000267430:R581P;ENSP00000442493:R555P	ENSP00000267430:R581P	R	+	2	0	FANCM	44703472	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.432000	0.97498	2.885000	0.99019	0.655000	0.94253	CGT	-	FANCM	-	superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C		0.403	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	0	0	0	91	91	129	0.00	0.00	G	XM_048128		45633722	+1	25	30	84	118	tier1	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	22.94	20.27	SNP	1.000	C	25	84
DPYSL5	56896	genome.wustl.edu	37	2	27167529	27167529	+	Silent	SNP	A	A	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:27167529A>G	ENST00000288699.6	+	12	1604	c.1446A>G	c.(1444-1446)ttA>ttG	p.L482L	DPYSL5_ENST00000401478.1_Silent_p.L482L	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	482					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAGACTTTAAAGGTTAGAG	0.547													ENSG00000157851																																					0													76.0	71.0	73.0					2																	27167529		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1446A>G	2.37:g.27167529A>G			Q8TCL6|Q9NQC4|Q9NRY9	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L482	ENST00000288699.6	37	c.1446	CCDS1730.1	2																																																																																			-	DPYSL5	-	superfamily_Metal-dep_hydrolase_composite		0.547	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYSL5	HGNC	protein_coding	OTTHUMT00000214187.2	0	0	0	95	95	58	0.00	0.00	A	NM_020134		27167529	+1	15	14	37	44	tier1	no_errors	ENST00000288699	ensembl	human	known	74_37	silent	28.85	24.14	SNP	0.995	G	15	37
ZNF512	84450	genome.wustl.edu	37	2	27822468	27822468	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:27822468C>G	ENST00000355467.4	+	4	379	c.296C>G	c.(295-297)gCc>gGc	p.A99G	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_Missense_Mutation_p.A98G|ZNF512_ENST00000556601.1_Missense_Mutation_p.P10A|ZNF512_ENST00000379717.1_Missense_Mutation_p.A98G|ZNF512_ENST00000413371.2_Missense_Mutation_p.A22G|ZNF512_ENST00000494548.1_3'UTR	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GGAGTATCAGCCAAGGGGAAA	0.403													ENSG00000243943																																					0													110.0	111.0	111.0					2																	27822468		2203	4300	6503	SO:0001583	missense	0			-	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.296C>G	2.37:g.27822468C>G	ENSP00000347648:p.Ala99Gly		B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A99G	ENST00000355467.4	37	c.296	CCDS1758.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.77|13.77	2.336738|2.336738	0.41398|0.41398	.|.	.|.	ENSG00000243943|ENSG00000243943	ENST00000379717;ENST00000355467;ENST00000416005;ENST00000413371|ENST00000556601	.|.	.|.	.|.	5.65|5.65	3.71|3.71	0.42584|0.42584	.|.	1.287310|.	0.05013|.	N|.	0.471236|.	T|T	0.22666|0.22666	0.0547|0.0547	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.15983|0.15983	-1.0418|-1.0418	9|5	0.19147|.	T|.	0.46|.	1.3249|1.3249	5.2301|5.2301	0.15416|0.15416	0.1409:0.6182:0.1558:0.085|0.1409:0.6182:0.1558:0.085	.|.	22;98;99|.	B4DES6;B4DSM5;Q96ME7|.	.;.;ZN512_HUMAN|.	G|A	98;99;98;22|10	.|.	ENSP00000347648:A99G|.	A|P	+|+	2|1	0|0	ZNF512|ZNF512	27675972|27675972	0.933000|0.933000	0.31639|0.31639	0.824000|0.824000	0.32777|0.32777	0.885000|0.885000	0.51271|0.51271	1.135000|1.135000	0.31454|0.31454	1.356000|1.356000	0.45884|0.45884	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	ZNF512	-	NULL		0.403	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF512	HGNC	protein_coding	OTTHUMT00000215029.2	0	0	0	97	97	124	0.00	0.00	C	NM_032434		27822468	+1	10	14	39	70	tier1	no_errors	ENST00000355467	ensembl	human	known	74_37	missense	20.41	16.47	SNP	0.235	G	10	39
ZC3H15	55854	genome.wustl.edu	37	2	187370520	187370520	+	Silent	SNP	T	T	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:187370520T>C	ENST00000337859.6	+	8	1145	c.918T>C	c.(916-918)gaT>gaC	p.D306D	ZC3H15_ENST00000544130.1_Silent_p.D101D	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	306					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ATGATGATGATGAGGAAGCAG	0.403													ENSG00000065548																																					0													126.0	121.0	123.0					2																	187370520		2009	4171	6180	SO:0001819	synonymous_variant	0			-		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.918T>C	2.37:g.187370520T>C			B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D306	ENST00000337859.6	37	c.918	CCDS42791.1	2																																																																																			-	ZC3H15	-	NULL		0.403	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	0	0	0	87	87	111	0.00	0.00	T	NM_018471		187370520	+1	25	24	42	73	tier1	no_errors	ENST00000337859	ensembl	human	known	74_37	silent	37.31	24.74	SNP	0.998	C	25	42
MOV10L1	54456	genome.wustl.edu	37	22	50558966	50558966	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:50558966A>G	ENST00000262794.5	+	10	1573	c.1490A>G	c.(1489-1491)cAa>cGa	p.Q497R	MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Missense_Mutation_p.Q497R|MOV10L1_ENST00000395858.3_Missense_Mutation_p.Q497R|MOV10L1_ENST00000540615.1_Missense_Mutation_p.Q477R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	497					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTTCTTCCCCAATATCCAATC	0.368													ENSG00000073146																																					0													113.0	115.0	114.0					22																	50558966		2203	4300	6503	SO:0001583	missense	0			-	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1490A>G	22.37:g.50558966A>G	ENSP00000262794:p.Gln497Arg		A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_-bd_OB-fold	p.Q497R	ENST00000262794.5	37	c.1490	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808939	0.31961	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;T;D	0.85773	-1.84;-1.84;-1.43;-2.03	5.68	5.68	0.88126	.	0.562734	0.19264	N	0.118591	D	0.84674	0.5524	M	0.70275	2.135	0.80722	D	1	P;P;P;B	0.43094	0.799;0.682;0.554;0.411	P;B;B;B	0.45138	0.471;0.168;0.118;0.118	T	0.81200	-0.1041	10	0.18710	T	0.47	-21.3345	10.1935	0.43041	0.8514:0.0:0.0:0.1486	.	258;477;497;497	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	R	497;497;497;477	ENSP00000438978:Q497R;ENSP00000262794:Q497R;ENSP00000379199:Q497R;ENSP00000438542:Q477R	ENSP00000262794:Q497R	Q	+	2	0	MOV10L1	48901093	0.942000	0.31987	0.949000	0.38748	0.887000	0.51463	3.734000	0.55037	2.159000	0.67721	0.528000	0.53228	CAA	-	MOV10L1	-	NULL		0.368	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	0	0	0	100	100	163	0.00	0.00	A	NM_018995		50558966	+1	16	37	38	110	tier1	no_errors	ENST00000262794	ensembl	human	known	74_37	missense	29.63	25.17	SNP	0.868	G	16	38
GATA1	2623	genome.wustl.edu	37	X	48651599	48651599	+	Silent	SNP	T	T	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chrX:48651599T>C	ENST00000376670.3	+	5	876	c.765T>C	c.(763-765)ggT>ggC	p.G255G	GATA1_ENST00000376665.3_Silent_p.G255G	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	255					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AACGGGCAGGTACTCAGTGCA	0.587			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome								ENSG00000102145																									Pancreas(9;429 505 11287 29617)			Dom	yes		X	Xp11.23	2623	GATA binding protein 1 (globin transcription factor 1)		L	0													162.0	110.0	128.0					X																	48651599		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.765T>C	X.37:g.48651599T>C			Q96GB8	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.G255	ENST00000376670.3	37	c.765	CCDS14305.1	X	.	.	.	.	.	.	.	.	.	.	t	9.883	1.202121	0.22121	.	.	ENSG00000102145	ENST00000447551	.	.	.	4.01	-0.008	0.14007	.	.	.	.	.	T	0.39517	0.1081	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22591	-1.0212	4	.	.	.	-9.2994	0.3754	0.00386	0.1869:0.2486:0.1882:0.3763	.	.	.	.	A	20	.	.	V	+	2	0	GATA1	48536543	0.037000	0.19845	0.997000	0.53966	0.920000	0.55202	-1.020000	0.03618	-0.156000	0.11079	0.237000	0.17872	GTA	-	GATA1	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA		0.587	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA1	HGNC	protein_coding	OTTHUMT00000056517.1	0	0	1	86	86	69	0.00	1.43	T	NM_002049		48651599	+1	7	22	37	47	tier1	no_errors	ENST00000376670	ensembl	human	known	74_37	silent	15.91	31.88	SNP	0.957	C	7	37
TOR1A	1861	genome.wustl.edu	37	9	132580862	132580862	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr9:132580862C>T	ENST00000351698.4	-	4	733	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	TOR1A_ENST00000473084.1_5'Flank	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	229	Interaction with SNAPIN.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTGATGTCTTCCCTCTGCTTT	0.488													ENSG00000136827																																					0													189.0	175.0	180.0					9																	132580862		2203	4300	6503	SO:0001583	missense	0			-	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.685G>A	9.37:g.132580862C>T	ENSP00000345719:p.Glu229Lys		B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.E229K	ENST00000351698.4	37	c.685	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.335992	0.95758	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.40476	1.03	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.71204	0.3312	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.73216	-0.4053	10	0.62326	D	0.03	-10.2461	19.8676	0.96824	0.0:1.0:0.0:0.0	.	229	O14656	TOR1A_HUMAN	K	198;229	ENSP00000345719:E229K	ENSP00000345719:E229K	E	-	1	0	TOR1A	131620683	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.664000	0.68045	2.941000	0.99782	0.655000	0.94253	GAA	-	TOR1A	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr		0.488	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	HGNC	protein_coding	OTTHUMT00000054611.1	0	0	0	92	92	112	0.00	0.00	C	NM_000113		132580862	-1	23	42	51	79	tier1	no_errors	ENST00000351698	ensembl	human	known	74_37	missense	31.08	34.71	SNP	1.000	T	23	51
CYP4F11	57834	genome.wustl.edu	37	19	16024597	16024597	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr19:16024597C>T	ENST00000402119.4	-	12	1946	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	CYP4F11_ENST00000326742.8_3'UTR|CYP4F11_ENST00000591841.1_Missense_Mutation_p.R182H|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R507H	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ACCCTCTGCGCGCAATATCAG	0.612													ENSG00000171903																																					0													61.0	55.0	57.0					19																	16024597		2203	4300	6503	SO:0001583	missense	0			-	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.1520G>A	19.37:g.16024597C>T	ENSP00000384588:p.Arg507His			Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.R507H	ENST00000402119.4	37	c.1520	CCDS12337.1	19	.	.	.	.	.	.	.	.	.	.	c	12.70	2.017687	0.35606	.	.	ENSG00000171903	ENST00000402119;ENST00000248041	T;T	0.79845	-1.31;-1.31	2.74	0.475	0.16774	.	0.000000	0.64402	U	0.000011	D	0.86108	0.5854	M	0.86028	2.79	0.44719	D	0.997717	D	0.61697	0.99	P	0.60949	0.881	D	0.83488	0.0068	10	0.66056	D	0.02	.	6.7411	0.23437	0.0:0.742:0.0:0.258	.	507	Q9HBI6	CP4FB_HUMAN	H	507	ENSP00000384588:R507H;ENSP00000248041:R507H	ENSP00000248041:R507H	R	-	2	0	CYP4F11	15885597	1.000000	0.71417	0.056000	0.19401	0.001000	0.01503	5.003000	0.63959	0.052000	0.16007	-0.369000	0.07265	CGC	-	CYP4F11	-	superfamily_Cyt_P450		0.612	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP4F11	HGNC	protein_coding	OTTHUMT00000460385.2	0	0	0	79	79	39	0.00	0.00	C	NM_021187		16024597	-1	12	10	27	33	tier1	no_errors	ENST00000248041	ensembl	human	known	74_37	missense	30.77	23.26	SNP	0.800	T	12	27
FBLN2	2199	genome.wustl.edu	37	3	13611824	13611824	+	5'UTR	SNP	G	G	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr3:13611824G>C	ENST00000295760.7	+	0	38				FBLN2_ENST00000535798.1_Missense_Mutation_p.R16T|FBLN2_ENST00000404922.3_5'UTR|FBLN2_ENST00000492059.1_5'UTR	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGGTCTTACAGGAGAGGGGAC	0.682													ENSG00000163520																																					0													4.0	5.0	5.0					3																	13611824		1989	4091	6080	SO:0001623	5_prime_UTR_variant	0			-	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.-32G>C	3.37:g.13611824G>C			B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.R16T	ENST00000295760.7	37	c.47	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	G	2.436	-0.329709	0.05314	.	.	ENSG00000163520	ENST00000535798	T	0.79454	-1.27	2.26	-0.669	0.11388	.	.	.	.	.	T	0.63510	0.2517	.	.	.	0.09310	N	1	B	0.30281	0.275	B	0.24269	0.052	T	0.53507	-0.8429	8	0.87932	D	0	.	6.3974	0.21620	0.3811:0.0:0.6189:0.0	.	16	F5H1F3	.	T	16	ENSP00000445705:R16T	ENSP00000445705:R16T	R	+	2	0	FBLN2	13586824	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.361000	0.20267	-0.199000	0.10317	-1.012000	0.02466	AGG	-	FBLN2	-	NULL		0.682	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	0	0	0	35	35	96	0.00	0.00	G	NM_001004019		13611824	+1	6	24	19	66	tier1	no_errors	ENST00000535798	ensembl	human	known	74_37	missense	24.00	26.37	SNP	0.004	C	6	19
STT3A	3703	genome.wustl.edu	37	11	125472725	125472725	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:125472725A>C	ENST00000529196.1	+	6	505	c.299A>C	c.(298-300)tAc>tCc	p.Y100S	STT3A_ENST00000392708.4_Missense_Mutation_p.Y100S|STT3A_ENST00000531491.1_Missense_Mutation_p.Y8S			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	100					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GCTGCAATCTACCATGTACTC	0.453													ENSG00000134910																																					0													239.0	208.0	219.0					11																	125472725		2201	4299	6500	SO:0001583	missense	0			-	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.299A>C	11.37:g.125472725A>C	ENSP00000436962:p.Tyr100Ser		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	pfam_Oligo_trans_STT3	p.Y100S	ENST00000529196.1	37	c.299	CCDS8458.1	11	.	.	.	.	.	.	.	.	.	.	A	26.9	4.784945	0.90282	.	.	ENSG00000134910	ENST00000527606;ENST00000392708;ENST00000529196;ENST00000531491;ENST00000525652;ENST00000529886	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.85066	0.5612	M	0.92923	3.36	0.80722	D	1	D;D	0.53885	0.963;0.963	D;P	0.64321	0.924;0.906	D	0.88548	0.3114	9	0.72032	D	0.01	-13.2495	15.9216	0.79580	1.0:0.0:0.0:0.0	.	8;100	E9PNQ1;P46977	.;STT3A_HUMAN	S	100;100;100;8;100;100	.	ENSP00000376472:Y100S	Y	+	2	0	STT3A	124977935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.291000	0.77112	0.533000	0.62120	TAC	-	STT3A	-	pfam_Oligo_trans_STT3		0.453	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	STT3A	HGNC	protein_coding	OTTHUMT00000386691.1	0	0	0	59	59	83	0.00	0.00	A	NM_152713		125472725	+1	8	26	32	75	tier1	no_errors	ENST00000392708	ensembl	human	known	74_37	missense	20.00	25.74	SNP	1.000	C	8	32
LZTR1	8216	genome.wustl.edu	37	22	21336825	21336825	+	Silent	SNP	G	G	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:21336825G>C	ENST00000215739.8	+	1	524	c.165G>C	c.(163-165)cgG>cgC	p.R55R	XXbac-B135H6.18_ENST00000610278.1_lincRNA|LZTR1_ENST00000479606.1_Intron|LZTR1_ENST00000389355.3_Silent_p.R55R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	55					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATCGCTGGCGGCGCCTCCCGC	0.662													ENSG00000099949																																					0													27.0	25.0	25.0					22																	21336825		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.165G>C	22.37:g.21336825G>C			Q14776|Q20WK0	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R55	ENST00000215739.8	37	c.165	CCDS33606.1	22																																																																																			-	LZTR1	-	NULL		0.662	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	0	0	0	141	141	51	0.00	0.00	G	NM_006767		21336825	+1	24	15	76	25	tier1	no_errors	ENST00000215739	ensembl	human	known	74_37	silent	24.00	37.50	SNP	0.999	C	24	76
CPT2	1376	genome.wustl.edu	37	1	53668131	53668131	+	Intron	SNP	C	C	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:53668131C>A	ENST00000371486.3	+	3	855				CPT2_ENST00000468572.1_3'UTR	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2						carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTATGATTTCTCCCAGAGCC	0.438													ENSG00000157184																																					0													66.0	64.0	65.0					1																	53668131		2203	4300	6503	SO:0001627	intron_variant	0			-	BC002445	CCDS575.1	1p32.3	2014-01-09	2009-03-04		ENSG00000157184	ENSG00000157184	2.3.1.21		2330	protein-coding gene	gene with protein product		600650	"""carnitine palmitoyltransferase II"""	CPT1		1339389	Standard	NM_000098		Approved	CPTASE	uc001cvb.4	P23786	OTTHUMG00000008942	ENST00000371486.3:c.340+30C>A	1.37:g.53668131C>A			B2R6S0|Q5SW68|Q9BQ26	R	SNP	-	NULL	ENST00000371486.3	37	NULL	CCDS575.1	1																																																																																			-	CPT2	-	-		0.438	CPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT2	HGNC	protein_coding	OTTHUMT00000024757.1	0	0	0	75	75	109	0.00	0.00	C	NM_000098		53668131	+1	7	19	20	68	tier1	no_errors	ENST00000468572	ensembl	human	known	74_37	rna	25.93	21.84	SNP	0.000	A	7	20
SEC24A	10802	genome.wustl.edu	37	5	134050773	134050773	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr5:134050773A>T	ENST00000398844.2	+	19	3075	c.2787A>T	c.(2785-2787)caA>caT	p.Q929H	RNU6-757P_ENST00000410334.1_RNA	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	929					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATGTGTCAAGTGAAAAACC	0.393													ENSG00000113615																																					0													159.0	144.0	149.0					5																	134050773		1872	4110	5982	SO:0001583	missense	0			-	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.2787A>T	5.37:g.134050773A>T	ENSP00000381823:p.Gln929His		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.Q929H	ENST00000398844.2	37	c.2787	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	A	20.5	3.995446	0.74703	.	.	ENSG00000113615	ENST00000398844	D	0.89746	-2.56	5.93	5.93	0.95920	Sec23/Sec24, helical domain (2);	0.000000	0.85682	D	0.000000	D	0.93858	0.8035	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.995;0.999	P;D	0.68192	0.817;0.956	D	0.92476	0.5989	10	0.18710	T	0.47	-12.4558	12.1777	0.54194	0.932:0.0:0.068:0.0	.	693;929	B4E205;O95486	.;SC24A_HUMAN	H	929	ENSP00000381823:Q929H	ENSP00000381823:Q929H	Q	+	3	2	SEC24A	134078672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.270000	0.75569	0.460000	0.39030	CAA	-	SEC24A	-	pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom		0.393	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	0	0	0	77	77	119	0.00	0.00	A			134050773	+1	29	47	38	145	tier1	no_errors	ENST00000398844	ensembl	human	known	74_37	missense	43.28	24.35	SNP	1.000	T	29	38
SCN7A	6332	genome.wustl.edu	37	2	167263047	167263047	+	Silent	SNP	C	C	T	rs370436682		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:167263047C>T	ENST00000409855.1	-	25	4218	c.4092G>A	c.(4090-4092)aaG>aaA	p.K1364K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1364					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TATGAAACACCTTTGGTCCTT	0.443													ENSG00000136546																																					0								C		0,3950		0,0,1975	112.0	106.0	108.0		4092	4.4	1.0	2		108	2,8314		0,2,4156	no	coding-synonymous	SCN7A	NM_002976.3		0,2,6131	TT,TC,CC		0.0241,0.0,0.0163		1364/1683	167263047	2,12264	1975	4158	6133	SO:0001819	synonymous_variant	0			-	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4092G>A	2.37:g.167263047C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.K1364	ENST00000409855.1	37	c.4092	CCDS46442.1	2																																																																																			-	SCN7A	-	pfam_Ion_trans_dom		0.443	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	0	0	0	70	70	78	0.00	0.00	C			167263047	-1	17	19	25	70	tier1	no_errors	ENST00000409855	ensembl	human	known	74_37	silent	40.48	21.11	SNP	1.000	T	17	25
GVINP1	387751	genome.wustl.edu	37	11	6739019	6739019	+	RNA	SNP	T	T	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:6739019T>C	ENST00000526769.3	-	0	4185					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TCTCATGCAGTTCTTCCAAGT	0.418													ENSG00000254838																																					0																																												0			-	BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6739019T>C			A6NFL2|Q9H8N5	R	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			-	GVINP1	-	-		0.418	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	0	0	0	21	21	108	0.00	0.00	T	NR_003945		6739019	-1	3	29	8	73	tier1	no_errors	ENST00000526769	ensembl	human	known	74_37	rna	27.27	28.43	SNP	0.013	C	3	8
GRIK3	2899	genome.wustl.edu	37	1	37267481	37267481	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:37267481T>G	ENST00000373091.3	-	16	2747	c.2731A>C	c.(2731-2733)Agc>Cgc	p.S911R		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	911					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				AAGGATGTGCTGCAGGCCATG	0.602													ENSG00000163873																																					0													93.0	75.0	81.0					1																	37267481		2203	4300	6503	SO:0001583	missense	0			-	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2731A>C	1.37:g.37267481T>G	ENSP00000362183:p.Ser911Arg		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S911R	ENST00000373091.3	37	c.2731	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143042	0.57044	.	.	ENSG00000163873	ENST00000373091	T	0.12039	2.72	5.86	4.73	0.59995	.	0.115971	0.56097	D	0.000024	T	0.09247	0.0228	N	0.14661	0.345	0.80722	D	1	B	0.19583	0.037	B	0.18263	0.021	T	0.10917	-1.0609	10	0.59425	D	0.04	.	11.604	0.51020	0.0:0.0692:0.0:0.9308	.	911	Q13003	GRIK3_HUMAN	R	911	ENSP00000362183:S911R	ENSP00000362183:S911R	S	-	1	0	GRIK3	37040068	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.615000	0.83006	1.050000	0.40346	0.523000	0.50628	AGC	-	GRIK3	-	NULL		0.602	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	HGNC	protein_coding	OTTHUMT00000012053.1	0	0	0	30	30	16	0.00	0.00	T	NM_000831		37267481	-1	4	11	13	30	tier1	no_errors	ENST00000373091	ensembl	human	known	74_37	missense	23.53	26.83	SNP	1.000	G	4	13
IL37	27178	genome.wustl.edu	37	2	113676368	113676368	+	Silent	SNP	C	C	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr2:113676368C>A	ENST00000263326.3	+	5	681	c.639C>A	c.(637-639)ccC>ccA	p.P213P	IL37_ENST00000349806.3_Silent_p.P152P|IL37_ENST00000311328.2_Silent_p.P187P|IL37_ENST00000353225.3_Silent_p.P173P|IL37_ENST00000352179.3_Silent_p.P192P	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	213					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAATGAGCCCCAGTGAGGTCA	0.413													ENSG00000125571																																					0													63.0	67.0	66.0					2																	113676368		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.639C>A	2.37:g.113676368C>A			B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Silent	SNP	pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36	p.P213	ENST00000263326.3	37	c.639	CCDS2103.1	2																																																																																			-	IL37	-	NULL		0.413	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	0	0	0	25	25	140	0.00	0.00	C	NM_014439		113676368	+1	9	41	13	84	tier1	no_errors	ENST00000263326	ensembl	human	known	74_37	silent	40.91	32.80	SNP	0.000	A	9	13
CTDSPL2	51496	genome.wustl.edu	37	15	44811494	44811494	+	Splice_Site	SNP	G	G	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr15:44811494G>T	ENST00000260327.4	+	11	1802		c.e11+1		CTDSPL2_ENST00000396780.1_Splice_Site|CTDSPL2_ENST00000558373.1_Splice_Site|CTD-2329K10.1_ENST00000561324.1_RNA|CTDSPL2_ENST00000558966.1_Splice_Site	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2								phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		TGCATATCAGGTAGGAAGAAA	0.328													ENSG00000137770																																					0													57.0	64.0	61.0					15																	44811494		2198	4296	6494	SO:0001630	splice_region_variant	0			-	AF161478	CCDS10110.1	15q15.3-q21.1	2010-06-21			ENSG00000137770	ENSG00000137770		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	26936	protein-coding gene	gene with protein product							Standard	NM_016396		Approved	HSPC129, FLJ10523	uc001ztr.3	Q05D32	OTTHUMG00000131159	ENST00000260327.4:c.1239+1G>T	15.37:g.44811494G>T			Q3ZTU1|Q6AI06|Q8IYI9|Q9NVT2|Q9NZX8|Q9P030	Splice_Site	SNP	-	e10+1	ENST00000260327.4	37	c.1239+1	CCDS10110.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088020	0.76642	.	.	ENSG00000137770	ENST00000260327;ENST00000396780	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9306	0.97117	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTDSPL2	42598786	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.841000	0.99482	2.728000	0.93425	0.650000	0.86243	.	-	CTDSPL2	-	-		0.328	CTDSPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSPL2	HGNC	protein_coding	OTTHUMT00000253851.1	0	0	0	114	114	67	0.00	0.00	G	NM_016396	Intron	44811494	+1	24	14	46	34	tier1	no_errors	ENST00000260327	ensembl	human	known	74_37	splice_site	34.29	29.17	SNP	1.000	T	24	46
CD81	975	genome.wustl.edu	37	11	2417894	2417894	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr11:2417894G>C	ENST00000263645.5	+	7	854	c.598G>C	c.(598-600)Ggg>Cgg	p.G200R	CD81_ENST00000492627.1_Missense_Mutation_p.G129R|CD81_ENST00000526072.1_Missense_Mutation_p.G129R|CD81_ENST00000481687.1_Missense_Mutation_p.G206R|CD81_ENST00000381036.3_Missense_Mutation_p.G238R	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	200					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of 1-phosphatidylinositol 4-kinase activity (GO:0043128)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization (GO:0008104)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of immune response (GO:0050776)|viral entry into host cell (GO:0046718)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	MHC class II protein complex binding (GO:0023026)			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTCTTCTCCGGGAAGCTGTA	0.677													ENSG00000110651																																					0													94.0	89.0	91.0					11																	2417894		2202	4298	6500	SO:0001583	missense	0			-		CCDS7734.1, CCDS73240.1	11p15.5	2014-09-17	2006-03-28		ENSG00000110651	ENSG00000110651		"""CD molecules"", ""Tetraspanins"""	1701	protein-coding gene	gene with protein product		186845	"""CD81 antigen (target of antiproliferative antibody 1)"""	TAPA1		1650385	Standard	XM_005253260		Approved	TAPA-1, TSPAN28	uc001lwf.1	P60033	OTTHUMG00000009892	ENST00000263645.5:c.598G>C	11.37:g.2417894G>C	ENSP00000263645:p.Gly200Arg		P18582|Q5U0J6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.G200R	ENST00000263645.5	37	c.598	CCDS7734.1	11	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672820	0.47781	.	.	ENSG00000110651	ENST00000263645;ENST00000492627;ENST00000527343;ENST00000381036;ENST00000492252;ENST00000526072;ENST00000481687	D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	3.39	3.39	0.38822	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.779778	0.12008	N	0.508137	D	0.86192	0.5874	N	0.25647	0.755	0.18873	N	0.999986	D;D	0.71674	0.998;0.973	D;P	0.65684	0.937;0.687	T	0.74411	-0.3674	10	0.33940	T	0.23	.	6.7103	0.23274	0.1299:0.0:0.8701:0.0	.	238;200	A6NMH8;P60033	.;CD81_HUMAN	R	200;129;189;238;193;129;206	ENSP00000263645:G200R;ENSP00000437242:G129R;ENSP00000433767:G189R;ENSP00000370424:G238R;ENSP00000432249:G193R;ENSP00000431780:G129R;ENSP00000432033:G206R	ENSP00000263645:G200R	G	+	1	0	CD81	2374470	0.984000	0.35163	0.975000	0.42487	0.952000	0.60782	2.994000	0.49433	1.919000	0.55581	0.462000	0.41574	GGG	-	CD81	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.677	CD81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD81	HGNC	protein_coding	OTTHUMT00000027357.4	0	0	0	49	49	36	0.00	0.00	G	NM_004356		2417894	+1	11	7	26	13	tier1	no_errors	ENST00000263645	ensembl	human	known	74_37	missense	29.73	35.00	SNP	0.081	C	11	26
ARHGAP10	79658	genome.wustl.edu	37	4	148876500	148876500	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr4:148876500A>T	ENST00000336498.3	+	16	1664	c.1425A>T	c.(1423-1425)ttA>ttT	p.L475F	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.L124F	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1238					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)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCTATGAGTTACATGGAGATT	0.348													ENSG00000071205																																					0													155.0	173.0	167.0					4																	148876500		2203	4299	6502	SO:0001583	missense	0			-	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1425A>T	4.37:g.148876500A>T	ENSP00000336923:p.Leu475Phe		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.L475F	ENST00000336498.3	37	c.1425	CCDS34075.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.98|14.98	2.697793|2.697793	0.48307|0.48307	.|.	.|.	ENSG00000071205|ENSG00000071205	ENST00000336498;ENST00000414545|ENST00000507661	T;T|.	0.24538|.	1.85;1.85|.	5.26|5.26	2.81|2.81	0.32909|0.32909	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);|.	0.145380|.	0.44688|.	D|.	0.000424|.	T|T	0.56077|0.56077	0.1961|0.1961	L|L	0.49778|0.49778	1.585|1.585	0.54753|0.54753	D|D	0.999987|0.999987	P;D;D|.	0.63880|.	0.605;0.993;0.958|.	B;P;P|.	0.61070|.	0.264;0.883;0.77|.	T|T	0.47262|0.47262	-0.9131|-0.9131	10|5	0.28530|.	T|.	0.3|.	.|.	8.1991|8.1991	0.31413|0.31413	0.6796:0.0:0.3204:0.0|0.6796:0.0:0.3204:0.0	.|.	56;124;475|.	Q86T21;E7EUW5;A1A4S6|.	.;.;RHG10_HUMAN|.	F|S	475;124|153	ENSP00000336923:L475F;ENSP00000406624:L124F|.	ENSP00000336923:L475F|.	L|T	+|+	3|1	2|0	ARHGAP10|ARHGAP10	149095950|149095950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	1.709000|1.709000	0.37909|0.37909	0.404000|0.404000	0.25506|0.25506	-0.290000|-0.290000	0.09829|0.09829	TTA|ACA	-	ARHGAP10	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.348	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP10	HGNC	protein_coding	OTTHUMT00000365005.1	0	0	0	51	51	138	0.00	0.00	A	NM_024605		148876500	+1	9	23	68	136	tier1	no_errors	ENST00000336498	ensembl	human	known	74_37	missense	11.69	14.47	SNP	1.000	T	9	68
ITPR3	3710	genome.wustl.edu	37	6	33646250	33646250	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:33646250A>G	ENST00000374316.5	+	30	4761	c.3701A>G	c.(3700-3702)aAg>aGg	p.K1234R	ITPR3_ENST00000605930.1_Missense_Mutation_p.K1234R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1234					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TTCCTGCAGAAGTTCTGTGCA	0.632													ENSG00000096433																																					0													71.0	64.0	66.0					6																	33646250		2203	4300	6503	SO:0001583	missense	0			-	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.3701A>G	6.37:g.33646250A>G	ENSP00000363435:p.Lys1234Arg		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.K1234R	ENST00000374316.5	37	c.3701	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	A	34	5.364374	0.95877	.	.	ENSG00000096433	ENST00000374316	D	0.95377	-3.69	5.65	5.65	0.86999	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.94696	0.8289	L	0.50333	1.59	0.58432	D	0.999997	P	0.48294	0.908	P	0.52386	0.697	D	0.95422	0.8508	10	0.72032	D	0.01	-41.5509	15.8765	0.79166	1.0:0.0:0.0:0.0	.	1234	Q14573	ITPR3_HUMAN	R	1234	ENSP00000363435:K1234R	ENSP00000363435:K1234R	K	+	2	0	ITPR3	33754228	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.332000	0.96446	2.154000	0.67381	0.459000	0.35465	AAG	-	ITPR3	-	pfam_Ca-rel_channel		0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	0	0	0	37	37	30	0.00	0.00	A	NM_002224		33646250	+1	16	15	22	20	tier1	no_errors	ENST00000374316	ensembl	human	known	74_37	missense	42.11	42.86	SNP	1.000	G	16	22
ELAC2	60528	genome.wustl.edu	37	17	12906831	12906832	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	CA	CA	CA	-	CA	CA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:12906831_12906832delCA	ENST00000338034.4	-	12	1282_1283	c.1043_1044delTG	c.(1042-1044)gtgfs	p.V348fs	ELAC2_ENST00000395962.2_Frame_Shift_Del_p.V329fs|ELAC2_ENST00000426905.3_Frame_Shift_Del_p.V308fs|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	348					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TGTCCACAAGCACAGATGCTGG	0.579											OREG0024189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000006744																																					0																																										SO:0001589	frameshift_variant	0				AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1043_1044delTG	17.37:g.12906833_12906834delCA	ENSP00000337445:p.Val348fs	683	B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Frame_Shift_Del	DEL	pfam_Beta-lactamas-like	p.V348fs	ENST00000338034.4	37	c.1044_1043	CCDS11164.1	17																																																																																				ELAC2	-	NULL		0.579	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAC2	HGNC	protein_coding	OTTHUMT00000129934.5	0	0	0	85	85	56	0.00	0.00	CA			12906832	-1	30	41	45	50	tier1	no_errors	ENST00000338034	ensembl	human	known	74_37	frame_shift_del	40.00	45.05	DEL	0.933:0.932	-	30	45
CPAMD8	27151	genome.wustl.edu	37	19	17120142	17120143	+	Intron	DEL	AC	AC	-			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr19:17120142_17120143delAC	ENST00000443236.1	-	6	659				CPAMD8_ENST00000388925.4_Intron|CTD-2528A14.1_ENST00000595134.1_RNA	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8							extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTAATGAAGACACAGATGCAG	0.554													ENSG00000268985																																					0																																										SO:0001627	intron_variant	0				AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.628-12GT>-	19.37:g.17120144_17120145delAC			Q8NC09|Q9ULD7	R	DEL	-	NULL	ENST00000443236.1	37	NULL	CCDS42519.1	19																																																																																				CTD-2528A14.1	-	-		0.554	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268985	Clone_based_vega_gene	protein_coding	OTTHUMT00000257531.2	0	0	0	76	76	102	0.00	0.00	AC	NM_015692		17120143	+1	12	16	38	74	tier1	no_errors	ENST00000595134	ensembl	human	known	74_37	rna	24.00	17.78	DEL	0.991:0.989	-	12	38
MORC3	23515	genome.wustl.edu	37	21	37741363	37741363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr21:37741363delC	ENST00000400485.1	+	15	1773	c.1697delC	c.(1696-1698)tcafs	p.S566fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	566					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTGAAAATTCAGTTTATAAA	0.333													ENSG00000159256																																					0													86.0	77.0	80.0					21																	37741363		1877	4117	5994	SO:0001589	frameshift_variant	0				AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1697delC	21.37:g.37741363delC	ENSP00000383333:p.Ser566fs		A8KA92|Q9UEZ2	Frame_Shift_Del	DEL	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.S566fs	ENST00000400485.1	37	c.1697	CCDS42924.1	21																																																																																				MORC3	-	NULL		0.333	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	0	0	0	42	42	57	0.00	0.00	C	NM_015358		37741363	+1	4	7	35	55	tier1	no_errors	ENST00000400485	ensembl	human	known	74_37	frame_shift_del	10.26	11.29	DEL	0.728	-	4	35
COL11A2	1302	genome.wustl.edu	37	6	33156189	33156189	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:33156189G>C	ENST00000374708.4	-	4	814	c.556C>G	c.(556-558)Cat>Gat	p.H186D	COL11A2_ENST00000341947.2_Missense_Mutation_p.H186D|COL11A2_ENST00000357486.1_Missense_Mutation_p.H186D|COL11A2_ENST00000374712.1_Missense_Mutation_p.H186D|COL11A2_ENST00000374713.1_Missense_Mutation_p.H186D|COL11A2_ENST00000374714.1_Missense_Mutation_p.H186D|COL11A2_ENST00000361917.1_Missense_Mutation_p.H186D|COL11A2_ENST00000395194.1_Missense_Mutation_p.H186D|COL11A2_ENST00000395197.1_Missense_Mutation_p.H186D	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	186	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCACTCCATGGGTGTCCAAT	0.537													ENSG00000204248																									Melanoma(1;90 116 3946 5341 17093)												0													119.0	125.0	123.0					6																	33156189		1511	2709	4220	SO:0001583	missense	0			-	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.556C>G	6.37:g.33156189G>C	ENSP00000363840:p.His186Asp		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.H186D	ENST00000374708.4	37	c.556	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	G	6.518	0.463885	0.12402	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.01871	4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59;4.59	3.72	2.81	0.32909	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.461581	0.19473	U	0.113388	T	0.00300	0.0009	N	0.00268	-1.735	0.29351	N	0.865314	P;B;B;P	0.43287	0.583;0.001;0.003;0.802	B;B;B;B	0.42771	0.397;0.003;0.003;0.333	T	0.34428	-0.9829	10	0.25751	T	0.34	.	8.5253	0.33302	0.0:0.0:0.58:0.42	.	186;186;186;186	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	D	186	ENSP00000363840:H186D;ENSP00000339915:H186D;ENSP00000350079:H186D;ENSP00000363846:H186D;ENSP00000363845:H186D;ENSP00000378623:H186D;ENSP00000363844:H186D;ENSP00000355123:H186D;ENSP00000405520:H186D;ENSP00000378620:H186D	ENSP00000339915:H186D	H	-	1	0	COL11A2	33264167	0.646000	0.27295	0.914000	0.36105	0.687000	0.40016	1.095000	0.30964	0.852000	0.35287	0.453000	0.30009	CAT	-	COL11A2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.537	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	0	0	0	55	55	67	0.00	0.00	G			33156189	-1	11	4	20	61	tier1	no_errors	ENST00000341947	ensembl	human	known	74_37	missense	35.48	6.15	SNP	0.941	C	11	20
BRDT	676	genome.wustl.edu	37	1	92470012	92470012	+	Silent	SNP	C	C	G			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:92470012C>G	ENST00000362005.3	+	18	2848	c.2430C>G	c.(2428-2430)ggC>ggG	p.G810G	BRDT_ENST00000370389.2_Silent_p.G737G|BRDT_ENST00000394530.3_Silent_p.G764G|BRDT_ENST00000399546.2_Silent_p.G810G|BRDT_ENST00000402388.1_Silent_p.G810G	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	810					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAGTTTAGGCAAACCAGTGA	0.358													ENSG00000137948																																					0													81.0	88.0	86.0					1																	92470012		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2430C>G	1.37:g.92470012C>G			A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.G810	ENST00000362005.3	37	c.2430	CCDS735.1	1																																																																																			-	BRDT	-	NULL		0.358	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	0	0	1	65	65	75	0.00	1.30	C	NM_207189		92470012	+1	4	4	39	47	tier1	no_errors	ENST00000362005	ensembl	human	known	74_37	silent	9.30	7.84	SNP	1.000	G	4	39
ZIC4	84107	genome.wustl.edu	37	3	147124340	147124340	+	5'UTR	SNP	A	A	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr3:147124340A>C	ENST00000383075.3	-	0	307				ZIC4_ENST00000425731.3_5'Flank|ZIC4_ENST00000525172.2_5'Flank|ZIC1_ENST00000282928.4_5'Flank|ZIC4_ENST00000484399.1_5'Flank|ZIC4_ENST00000473123.1_5'Flank|ZIC4_ENST00000491672.1_5'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGTCAGGATGATATTTTAATG	0.478													ENSG00000174963																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.-206T>G	3.37:g.147124340A>C			A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	R	SNP	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			-	ZIC4	-	-		0.478	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	0	0	0	103	103	111	0.00	0.00	A			147124340	-1	7	14	61	140	tier1	no_errors	ENST00000464144	ensembl	human	putative	74_37	rna	10.29	9.09	SNP	1.000	C	7	61
TACSTD2	4070	genome.wustl.edu	37	1	59041881	59041898	+	In_Frame_Del	DEL	CTCCCCCAGTTCCTTGAT	CTCCCCCAGTTCCTTGAT	-	rs529900062|rs376943593	byFrequency	TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	CTCCCCCAGTTCCTTGAT	CTCCCCCAGTTCCTTGAT	CTCCCCCAGTTCCTTGAT	-	CTCCCCCAGTTCCTTGAT	CTCCCCCAGTTCCTTGAT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:59041881_59041898delCTCCCCCAGTTCCTTGAT	ENST00000371225.2	-	1	1268_1285	c.931_948delATCAAGGAACTGGGGGAG	c.(931-948)atcaaggaactgggggagdel	p.IKELGE311del		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	311					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					CCTTTCTCAACTCCCCCAGTTCCTTGATCTCCACCTTC	0.61													ENSG00000184292																																					0																																										SO:0001651	inframe_deletion	0				X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.931_948delATCAAGGAACTGGGGGAG	1.37:g.59041881_59041898delCTCCCCCAGTTCCTTGAT	ENSP00000360269:p.Ile311_Glu316del		Q15658|Q6FG48|Q7Z7Q4|Q96QD2	In_Frame_Del	DEL	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.IKELGE311in_frame_del	ENST00000371225.2	37	c.948_931	CCDS609.1	1																																																																																				TACSTD2	-	NULL		0.610	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACSTD2	HGNC	protein_coding	OTTHUMT00000027818.1	0	0	0	105	105	105	0.00	0.00	CTCCCCCAGTTCCTTGAT	NM_002353		59041898	-1	7	7	94	94	tier1	no_errors	ENST00000371225	ensembl	human	known	74_37	in_frame_del	6.93	6.93	DEL	0.999:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.935:0.910:0.989:0.996:0.994:0.999:0.999:0.998:0.997:0.993	-	7	94
AL441988.1	0	genome.wustl.edu	37	20	29637246	29637247	+	RNA	DEL	TA	TA	-			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr20:29637246_29637247delTA	ENST00000408392.1	+	0	85_86																											gggacatgcttatactaaaata	0.277													ENSG00000221319																																					0																																												0																																20.37:g.29637248_29637249delTA				R	DEL	-	NULL	ENST00000408392.1	37	NULL		20																																																																																				AL441988.1	-	-		0.277	AL441988.1-201	NOVEL	basic	miRNA	ENSG00000221319	Clone_based_ensembl_gene	miRNA		0	0	0	128	128	17	0.00	0.00	TA			29637247	+1	24	0	71	3	tier1	no_errors	ENST00000408392	ensembl	human	novel	74_37	rna	25.26	0.00	DEL	0.029:0.028	-	24	71
CTAGE9	643854	genome.wustl.edu	37	6	132031121	132031121	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr6:132031121T>C	ENST00000314099.8	-	1	1085	c.1037A>G	c.(1036-1038)gAc>gGc	p.D346G	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	346						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						CTTTGTTTTGTCCACTTCAGA	0.323													ENSG00000236761																																					0													1.0	1.0	1.0					6																	132031121		209	555	764	SO:0001583	missense	0			-		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1037A>G	6.37:g.132031121T>C	ENSP00000395587:p.Asp346Gly			Missense_Mutation	SNP	NULL	p.D346G	ENST00000314099.8	37	c.1037	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	7.453	0.643095	0.14451	.	.	ENSG00000236761	ENST00000314099	T	0.38401	1.14	.	.	.	.	.	.	.	.	T	0.35422	0.0931	M	0.88450	2.955	0.23855	N	0.996659	D	0.58970	0.984	P	0.59171	0.853	T	0.12293	-1.0553	8	0.35671	T	0.21	.	2.1243	0.03734	0.4998:2.0E-4:2.0E-4:0.4998	.	346	A4FU28	CTGE9_HUMAN	G	346	ENSP00000395587:D346G	ENSP00000395587:D346G	D	-	2	0	CTAGE9	132072814	0.875000	0.30112	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	0.000000	0.14550	0.000000	0.15137	GAC	-	CTAGE9	-	NULL		0.323	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	0	0	0	55	55	0	0.00	0.00	T	NM_001145659		132031121	-1	7	1	32	0	tier1	no_errors	ENST00000314099	ensembl	human	known	74_37	missense	17.95	100.00	SNP	0.942	C	7	32
DNM1P47	100216544	genome.wustl.edu	37	15	102294602	102294602	+	RNA	SNP	C	C	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr15:102294602C>T	ENST00000561463.1	+	0	2648									DNM1 pseudogene 47																		GTGGAGGAGTCGGCAGAGCAG	0.602													ENSG00000259660																																					0																																												0			-	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294602C>T				R	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			-	DNM1P47	-	-		0.602	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	0	0	0	61	61	0	0.00	0.00	C	NG_009149		102294602	+1	5	0	40	0	tier1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	11.11	0.00	SNP	0.997	T	5	40
CR381670.1	0	genome.wustl.edu	37	21	9683195	9683195	+	RNA	SNP	G	G	A	rs372098410		TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr21:9683195G>A	ENST00000459169.1	+	0	5																											ttagaccctcgcagcagtgtt	0.468													ENSG00000238411																																					0																																												0			-																													21.37:g.9683195G>A				R	SNP	-	NULL	ENST00000459169.1	37	NULL		21																																																																																			-	CR381670.1	-	-		0.468	CR381670.1-201	NOVEL	basic	miRNA	ENSG00000238411	Clone_based_ensembl_gene	miRNA		0	0	0	14	14	0	0.00	0.00	G			9683195	+1	6	0	11	0	tier1	no_errors	ENST00000459169	ensembl	human	novel	74_37	rna	35.29	0.00	SNP	0.002	A	6	11
GOLGA6L4	643707	genome.wustl.edu	37	15	82932257	82932288	+	5'UTR	DEL	ACACAAATAAATTTAAACTATAAATTAGAAAC	ACACAAATAAATTTAAACTATAAATTAGAAAC	-	rs555363824	byFrequency	TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	ACACAAATAAATTTAAACTATAAATTAGAAAC	ACACAAATAAATTTAAACTATAAATTAGAAAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr15:82932257_82932288delACACAAATAAATTTAAACTATAAATTAGAAAC	ENST00000560844.1	-	0	2502_2533																				NS(1)	1						taaattagaaacacaaataaatttaaactataaattagaaacacaaataaat	0.207													ENSG00000215749																																					0																																										SO:0001623	5_prime_UTR_variant	0																															ENST00000560844.1:c.-1851GTTTCTAATTTATAGTTTAAATTTATTTGTGT>-	15.37:g.82932257_82932288delACACAAATAAATTTAAACTATAAATTAGAAAC				R	DEL	-	NULL	ENST00000560844.1	37	NULL		15																																																																																				RP13-996F3.5	-	-		0.207	RP13-996F3.5-002	KNOWN	basic	processed_transcript	GOLGA6L4	Clone_based_vega_gene	protein_coding	OTTHUMT00000419267.1	0	0	0	0	0	0	0.00	0.00	ACACAAATAAATTTAAACTATAAATTAGAAAC			82932288	-1	0	0	0	0	tier1	no_errors	ENST00000560844	ensembl	human	known	74_37	rna	0.00	0.00	DEL	0.140:0.148:0.154:0.160:0.165:0.169:0.172:0.175:0.177:0.178:0.179:0.179:0.180:0.179:0.135:0.131:0.126:0.121:0.112:0.097:0.077:0.050:0.041:0.040:0.045:0.047:0.048:0.046:0.049:0.052:0.050:0.046	-	0	0
LDLRAD4	753	genome.wustl.edu	37	18	13387561	13387561	+	5'UTR	SNP	C	C	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr18:13387561C>A	ENST00000359446.5	+	0	308				LDLRAD4_ENST00000399848.3_5'UTR|LDLRAD4_ENST00000361205.4_5'UTR	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										ACCGCCCGCCCGCGCGAGAGC	0.741													ENSG00000168675																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.-161C>A	18.37:g.13387561C>A			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	R	SNP	-	NULL	ENST00000359446.5	37	NULL	CCDS32793.1	18																																																																																			-	LDLRAD4	-	-		0.741	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	0	0	0	41	41	2	0.00	0.00	C	NM_181481		13387561	+1	3	0	13	0	tier1	no_errors	ENST00000590371	ensembl	human	putative	74_37	rna	18.75	0.00	SNP	0.925	A	3	13
MN1	4330	genome.wustl.edu	37	22	28194945	28194945	+	Silent	SNP	C	C	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgctgctgct	0.647			T	ETV6	"""AML, meningioma"""								ENSG00000169184																												Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0													3.0	5.0	4.0					22																	28194945		1291	2827	4118	SO:0001819	synonymous_variant	0			-	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1587G>A	22.37:g.28194945C>T			A9Z1V9	Silent	SNP	NULL	p.Q529	ENST00000302326.4	37	c.1587	CCDS42998.1	22																																																																																			-	MN1	-	NULL		0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MN1	HGNC	protein_coding	OTTHUMT00000320737.1	0	0	0	61	61	0	0.00	0.00	C	NM_002430		28194945	-1	9	0	18	6	tier1	no_errors	ENST00000302326	ensembl	human	known	74_37	silent	33.33	0.00	SNP	0.972	T	9	18
SSX1	6756	genome.wustl.edu	37	X	48125797	48125797	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chrX:48125797G>T	ENST00000376919.3	+	7	678	c.542G>T	c.(541-543)aGt>aTt	p.S181I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GAAGAGATCAGTGACCCTGAG	0.493			T	SS18	synovial sarcoma								ENSG00000126752																									Esophageal Squamous(175;994 1982 2214 6527 18857)			Dom	yes		X	Xp11.23-p11.22	6756	"""synovial sarcoma, X breakpoint 1"""		M	0													319.0	297.0	305.0					X																	48125797		1511	2706	4217	SO:0001583	missense	0			-	BC001003	CCDS14290.1	Xp11.23	2009-03-12			ENSG00000126752	ENSG00000126752			11335	protein-coding gene	gene with protein product	"""cancer/testis antigen family 5, member 1"""	312820				7655467	Standard	NM_005635		Approved	CT5.1	uc004djb.1	Q16384	OTTHUMG00000021488	ENST00000376919.3:c.542G>T	X.37:g.48125797G>T	ENSP00000366118:p.Ser181Ile		A3KN76|Q08AJ2|Q5JQ64	Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.S181I	ENST00000376919.3	37	c.542	CCDS14290.1	X	.	.	.	.	.	.	.	.	.	.	N	14.28	2.489388	0.44249	.	.	ENSG00000126752	ENST00000376919	T	0.15487	2.42	2.39	2.39	0.29439	SSXRD motif (1);	0.249770	0.28971	N	0.013550	T	0.20820	0.0501	L	0.61218	1.895	0.24345	N	0.994946	P	0.36789	0.57	B	0.42386	0.386	T	0.09314	-1.0680	10	0.87932	D	0	.	7.6005	0.28073	0.0:0.0:1.0:0.0	.	181	Q16384	SSX1_HUMAN	I	181	ENSP00000366118:S181I	ENSP00000366118:S181I	S	+	2	0	SSX1	48010741	0.992000	0.36948	0.743000	0.31040	0.157000	0.22087	2.968000	0.49224	1.493000	0.48517	0.380000	0.24917	AGT	-	SSX1	-	pfam_SSXRD_motif		0.493	SSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSX1	HGNC	protein_coding	OTTHUMT00000056485.1	0	0	0	353	353	2	0.00	0.00	G	NM_005635		48125797	+1	81	1	140	6	tier1	no_errors	ENST00000376919	ensembl	human	known	74_37	missense	36.65	14.29	SNP	0.735	T	81	140
UMODL1	89766	genome.wustl.edu	37	21	43531405	43531405	+	Intron	SNP	G	G	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr21:43531405G>T	ENST00000408910.2	+	11	1899				UMODL1_ENST00000400424.2_Intron|UMODL1_ENST00000400427.1_Silent_p.R619R|UMODL1_ENST00000408989.2_Silent_p.R691R|C21orf128_ENST00000329015.2_5'Flank	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1						adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCAGCCAGCGGAGCACCAGCC	0.731													ENSG00000177398																									Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													5.0	7.0	6.0					21																	43531405		1792	3896	5688	SO:0001627	intron_variant	0			-		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1899+174G>T	21.37:g.43531405G>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.R691	ENST00000408910.2	37	c.2073	CCDS42936.1	21																																																																																			-	UMODL1	-	NULL		0.731	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	0	0	0	24	24	3	0.00	0.00	G			43531405	+1	4	1	16	0	tier1	no_errors	ENST00000408989	ensembl	human	known	74_37	silent	20.00	100.00	SNP	0.000	T	4	16
SUGCT	79783	genome.wustl.edu	37	7	40277290	40277290	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr7:40277290G>A	ENST00000335693.4	+	7	585	c.562G>A	c.(562-564)Gct>Act	p.A188T	C7orf10_ENST00000309930.5_Missense_Mutation_p.A188T|C7orf10_ENST00000401647.2_Missense_Mutation_p.A188T	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		188					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TGTTGCCTCGGCTGTTTCTGG	0.423													ENSG00000175600																																					0													173.0	161.0	165.0					7																	40277290		1961	4168	6129	SO:0001583	missense	0			-																												ENST00000335693.4:c.562G>A	7.37:g.40277290G>A	ENSP00000338475:p.Ala188Thr		A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.A188T	ENST00000335693.4	37	c.562	CCDS55105.1	7	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771011	0.90108	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.92446	-3.04;-0.4;-0.4	5.35	5.35	0.76521	CoA-transferase family III domain (2);	0.093782	0.64402	N	0.000001	D	0.97377	0.9142	H	0.95365	3.66	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.997	D;D;D	0.70227	0.968;0.964;0.947	D	0.98274	1.0505	10	0.87932	D	0	-8.1766	19.0288	0.92946	0.0:0.0:1.0:0.0	.	188;188;151	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	T	188	ENSP00000312054:A188T;ENSP00000385222:A188T;ENSP00000338475:A188T	ENSP00000312054:A188T	A	+	1	0	C7orf10	40243815	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	6.243000	0.72384	2.675000	0.91044	0.655000	0.94253	GCT	-	C7orf10	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.423	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	HGNC	protein_coding	OTTHUMT00000338388.1	0	0	0	47	47	109	0.00	0.00	G			40277290	+1	4	2	26	111	tier1	no_errors	ENST00000309930	ensembl	human	known	74_37	missense	12.90	1.77	SNP	1.000	A	4	26
TEKT3	64518	genome.wustl.edu	37	17	15215789	15215789	+	Silent	SNP	C	C	T			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr17:15215789C>T	ENST00000395930.1	-	7	1074	c.888G>A	c.(886-888)gtG>gtA	p.V296V	TEKT3_ENST00000338696.2_Silent_p.V296V|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	296			V -> A (in dbSNP:rs6502446).		cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGGACTCAGGCACTGAGACAC	0.473													ENSG00000125409																																					0													46.0	48.0	47.0					17																	15215789		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.888G>A	17.37:g.15215789C>T			B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	pfam_Tektin,prints_Tektin	p.V296	ENST00000395930.1	37	c.888	CCDS11169.1	17																																																																																			-	TEKT3	-	pfam_Tektin		0.473	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	HGNC	protein_coding	OTTHUMT00000130385.2	0	0	0	40	40	62	0.00	0.00	C	NM_031898		15215789	-1	7	2	32	74	tier1	no_errors	ENST00000338696	ensembl	human	known	74_37	silent	17.95	2.63	SNP	1.000	T	7	32
RNPC3	55599	genome.wustl.edu	37	1	104076466	104076467	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DX-A7EL-01A-12D-A36J-09	TCGA-DX-A7EL-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	ac690007-d6de-4a5c-b7fc-72c128815ebe	26b5714d-b99a-4e34-9e74-e7746a0bd867	g.chr1:104076466_104076467insA	ENST00000533099.1	+	4	582_583	c.346_347insA	c.(346-348)gaafs	p.E116fs	RNPC3_ENST00000524631.1_Frame_Shift_Ins_p.E116fs|RNPC3_ENST00000423855.2_Frame_Shift_Ins_p.E116fs			Q96LT9	RBM40_HUMAN	RNA-binding region (RNP1, RRM) containing 3	116	Necessary for interaction with PDCD7.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Lung(183;0.111)|Epithelial(280;0.122)|all cancers(265;0.125)|Colorectal(144;0.163)		TTCAGGCTCTGAAAAAAAAAAA	0.322													ENSG00000185946																																					0																																										SO:0001589	frameshift_variant	0				AB058742, AY099329	CCDS781.1	1p21.1	2013-07-16			ENSG00000185946	ENSG00000185946		"""RNA binding motif (RRM) containing"""	18666	protein-coding gene	gene with protein product	"""U11/U12 snRNP 65K"""					14974681, 15146077	Standard	NM_017619		Approved	KIAA1839, FLJ20008, RBM40, SNRNP65	uc010oun.2	Q96LT9	OTTHUMG00000166613	ENST00000533099.1:c.358dupA	1.37:g.104076477_104076477dupA	ENSP00000432886:p.Glu116fs		A8K1C9|D3DT74|Q5TZ87|Q96FK7|Q96JI8|Q9NSU7|Q9NXX2	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K120fs	ENST00000533099.1	37	c.346_347	CCDS781.1	1																																																																																				RNPC3	-	NULL		0.322	RNPC3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNPC3	HGNC	protein_coding	OTTHUMT00000390812.1	0	0	0	46	46	23	0.00	0.00	-	NM_017619		104076467	+1	6	2	31	22	tier1	no_errors	ENST00000423855	ensembl	human	known	74_37	frame_shift_ins	16.22	8.33	INS	0.748:0.784	A	6	31
