#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AAED1	195827	genome.wustl.edu	37	9	99417103	99417103	+	Intron	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:99417103C>G	ENST00000375234.3	-	2	192				AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1																		GCAGCACCCTCGGGCCCCGAA	0.627																																																	0													34.0	32.0	33.0					9																	99417103		2141	4170	6311	SO:0001627	intron_variant	195827			BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 21"""	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.193-48G>C	9.37:g.99417103C>G			B2RMW4|Q5JU02	RNA	SNP	-	NULL	ENST00000375234.3	37	NULL	CCDS35073.1	9																																																																																			AAED1	-	-		0.627	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AAED1	HGNC	protein_coding	OTTHUMT00000053273.1	C	NM_153698		99417103	-1	no_errors	ENST00000464512	ensembl	human	known	70_37	rna	SNP	0.000	G
ABHD12B	145447	genome.wustl.edu	37	14	51371087	51371087	+	3'UTR	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr14:51371087C>T	ENST00000337334.2	+	0	1107				ABHD12B_ENST00000395752.1_3'UTR|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B								hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GGTCATGAGTCTGGGAGGAGT	0.423																																																	0													162.0	165.0	164.0					14																	51371087		2203	4300	6503	SO:0001624	3_prime_UTR_variant	145447			BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.*3C>T	14.37:g.51371087C>T			Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	RNA	SNP	-	NULL	ENST00000337334.2	37	NULL	CCDS55916.1	14																																																																																			ABHD12B	-	-		0.423	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABHD12B	HGNC	protein_coding	OTTHUMT00000411030.1	C			51371087	+1	no_errors	ENST00000554566	ensembl	human	known	70_37	rna	SNP	0.000	T
ANGEL2	90806	genome.wustl.edu	37	1	213180441	213180442	+	Intron	INS	-	-	A	rs116147385|rs71147054|rs397982836|rs202124670	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:213180441_213180442insA	ENST00000366962.3	-	4	867				ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000544555.1_Intron|ANGEL2_ENST00000540642.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)											central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		tctcaaaaaagaaaaaaaaaaa	0.431																																																	0																																										SO:0001627	intron_variant	90806			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.712+28->T	1.37:g.213180452_213180452dupA			B7Z2U4|D3DTA3|Q86X13|Q8NHH3	RNA	INS	-	NULL	ENST00000366962.3	37	NULL	CCDS1512.1	1																																																																																			ANGEL2	-	-		0.431	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	-	NM_144567		213180442	-1	no_errors	ENST00000460337	ensembl	human	known	70_37	rna	INS	0.003:0.007	A
ANKRD13D	338692	genome.wustl.edu	37	11	67069645	67069645	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:67069645C>T	ENST00000447274.2	+	15	2574	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	ANKRD13D_ENST00000515828.1_Missense_Mutation_p.P204S|ANKRD13D_ENST00000504236.1_3'UTR|SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.P554S|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.P467S|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.P467S			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	467						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGATCCCCTCCCAGGACACC	0.697																																																	0													16.0	19.0	18.0					11																	67069645		2177	4287	6464	SO:0001583	missense	338692			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.1399C>T	11.37:g.67069645C>T	ENSP00000402616:p.Pro467Ser		D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.P554S	ENST00000447274.2	37	c.1660		11	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.959695	0.00465	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.42900	1.56;1.74;1.56;1.56;0.96	4.87	3.93	0.45458	.	1.142710	0.06529	N	0.741115	T	0.28167	0.0695	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.002;0.006;0.0	B;B;B	0.15870	0.008;0.014;0.002	T	0.09079	-1.0691	10	0.02654	T	1	0.3914	12.272	0.54712	0.0:0.8285:0.1715:0.0	.	204;554;467	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	S	467;554;467;467;204	ENSP00000402616:P467S;ENSP00000427130:P554S;ENSP00000310874:P467S;ENSP00000444404:P467S;ENSP00000443977:P204S	ENSP00000310874:P467S	P	+	1	0	ANKRD13D	66826221	0.001000	0.12720	0.005000	0.12908	0.053000	0.15095	1.369000	0.34227	1.247000	0.43917	0.561000	0.74099	CCC	ANKRD13D	-	NULL		0.697	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	C	NM_207354		67069645	+1	no_errors	ENST00000511455	ensembl	human	known	70_37	missense	SNP	0.011	T
ASGR1	432	genome.wustl.edu	37	17	7077286	7077286	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:7077286C>A	ENST00000269299.3	-	8	1094	c.695G>T	c.(694-696)gGc>gTc	p.G232V	ASGR1_ENST00000380920.4_Missense_Mutation_p.G131V|ASGR1_ENST00000572879.1_Missense_Mutation_p.G92V|ASGR1_ENST00000574388.1_Missense_Mutation_p.G193V	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	232	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTTGAAGCCCGTCTCGTA	0.672																																																	0													109.0	98.0	102.0					17																	7077286		2203	4300	6503	SO:0001583	missense	432				CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.695G>T	17.37:g.7077286C>A	ENSP00000269299:p.Gly232Val		I3L1X1	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.G232V	ENST00000269299.3	37	c.695	CCDS11089.1	17	.	.	.	.	.	.	.	.	.	.	C	17.73	3.462449	0.63513	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.16897	2.31	4.2	4.2	0.49525	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.248229	0.29009	N	0.013426	T	0.37999	0.1024	M	0.72576	2.205	0.50171	D	0.999857	D	0.89917	1.0	D	0.85130	0.997	T	0.09292	-1.0681	10	0.72032	D	0.01	.	10.4206	0.44348	0.0:0.8018:0.1982:0.0	.	232	P07306	ASGR1_HUMAN	V	232;193	ENSP00000269299:G232V	ENSP00000269299:G232V	G	-	2	0	ASGR1	7018010	0.953000	0.32496	0.998000	0.56505	0.957000	0.61999	1.797000	0.38804	2.646000	0.89796	0.537000	0.68136	GGC	ASGR1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.672	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASGR1	HGNC	protein_coding	OTTHUMT00000220004.3	C	NM_001671		7077286	-1	no_errors	ENST00000269299	ensembl	human	known	70_37	missense	SNP	0.995	A
ATP2B4	493	genome.wustl.edu	37	1	203708795	203708795	+	Missense_Mutation	SNP	G	G	A	rs567340474		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:203708795G>A	ENST00000357681.5	+	21	4554	c.3431G>A	c.(3430-3432)cGa>cAa	p.R1144Q	ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1180				K -> N (in Ref. 8; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGTTGCCACGAACACCACTC	0.507																																																	0													124.0	112.0	116.0					1																	203708795		2203	4300	6503	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3431G>A	1.37:g.203708795G>A	ENSP00000350310:p.Arg1144Gln		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.R1144Q	ENST00000357681.5	37	c.3431	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003876	0.54254	.	.	ENSG00000058668	ENST00000357681	T	0.78246	-1.16	5.46	0.342	0.15996	.	1.441180	0.04770	N	0.427848	T	0.68961	0.3058	L	0.38175	1.15	0.80722	D	1	B	0.19583	0.037	B	0.12156	0.007	T	0.43798	-0.9369	10	0.29301	T	0.29	2.2627	9.6176	0.39701	0.3409:0.0:0.6591:0.0	.	1144	P23634-6	.	Q	1144	ENSP00000350310:R1144Q	ENSP00000350310:R1144Q	R	+	2	0	ATP2B4	201975418	0.268000	0.24133	0.416000	0.26546	0.983000	0.72400	0.324000	0.19610	-0.189000	0.10482	0.655000	0.94253	CGA	ATP2B4	-	pfam_ATP_Ca_trans_C		0.507	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	G	NM_001001396		203708795	+1	no_errors	ENST00000357681	ensembl	human	known	70_37	missense	SNP	0.938	A
BPTF	2186	genome.wustl.edu	37	17	65907170	65907170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:65907170C>A	ENST00000321892.4	+	13	3609	c.3548C>A	c.(3547-3549)tCa>tAa	p.S1183*	BPTF_ENST00000335221.5_Nonsense_Mutation_p.S1183*|BPTF_ENST00000306378.6_Nonsense_Mutation_p.S1057*|BPTF_ENST00000424123.3_Nonsense_Mutation_p.S1044*			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1183					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAACAAAATCATCCAAACTA	0.368																																																	0													67.0	67.0	67.0					17																	65907170		2203	4300	6503	SO:0001587	stop_gained	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.3548C>A	17.37:g.65907170C>A	ENSP00000315454:p.Ser1183*		Q6NX67|Q7Z7D6|Q9UIG2	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1183*	ENST00000321892.4	37	c.3548		17	.	.	.	.	.	.	.	.	.	.	C	41	8.894610	0.98994	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2706	19.8184	0.96581	0.0:1.0:0.0:0.0	.	.	.	.	X	1057;1183;1183	.	ENSP00000307208:S1057X	S	+	2	0	BPTF	63337632	1.000000	0.71417	0.996000	0.52242	0.899000	0.52679	5.825000	0.69286	2.761000	0.94854	0.650000	0.86243	TCA	BPTF	-	NULL		0.368	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		C	NM_182641, NM_004459		65907170	+1	no_errors	ENST00000321892	ensembl	human	known	70_37	nonsense	SNP	1.000	A
C19orf26	255057	genome.wustl.edu	37	19	1233483	1233483	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:1233483G>C	ENST00000382477.2	-	8	1255	c.981C>G	c.(979-981)ttC>ttG	p.F327L	C19orf26_ENST00000215376.6_Missense_Mutation_p.F301L|C19orf26_ENST00000590083.1_Missense_Mutation_p.F307L			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	327						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTGACCTTGAAATAGGGGC	0.682										HNSCC(14;0.022)																																							0													16.0	15.0	16.0					19																	1233483		2172	4288	6460	SO:0001583	missense	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.981C>G	19.37:g.1233483G>C	ENSP00000371917:p.Phe327Leu		O43385	Missense_Mutation	SNP	NULL	p.F327L	ENST00000382477.2	37	c.981		19	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671821	0.67928	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	T;T	0.28454	1.61;1.61	4.19	4.19	0.49359	.	0.063966	0.64402	D	0.000006	T	0.28466	0.0704	L	0.52759	1.655	0.46981	D	0.999277	P	0.41393	0.748	B	0.40101	0.319	T	0.04481	-1.0948	10	0.44086	T	0.13	.	10.9292	0.47207	0.0:0.0:0.8121:0.1879	.	301	Q8N350-2	.	L	327;301	ENSP00000371917:F327L;ENSP00000215376:F301L	ENSP00000215376:F301L	F	-	3	2	C19orf26	1184483	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.967000	0.40491	2.329000	0.79093	0.511000	0.50034	TTC	C19orf26	-	NULL		0.682	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	C19orf26	HGNC	protein_coding		G	NM_152769		1233483	-1	no_errors	ENST00000382477	ensembl	human	known	70_37	missense	SNP	1.000	C
C8G	733	genome.wustl.edu	37	9	139840397	139840397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:139840397C>T	ENST00000224181.3	+	3	352	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	FBXW5_ENST00000325285.3_5'Flank|FBXW5_ENST00000483559.1_5'Flank	NM_000606.2	NP_000597.2	P07360	CO8G_HUMAN	complement component 8, gamma polypeptide	98					complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	retinol binding (GO:0019841)			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		GATCTGCTGGCAGGTGCGCCA	0.682																																																	0													12.0	14.0	14.0					9																	139840397		2176	4265	6441	SO:0001587	stop_gained	733			X06465	CCDS7017.1	9q	2011-11-15			ENSG00000176919	ENSG00000176919		"""Complement system"", ""Lipocalins"""	1354	protein-coding gene	gene with protein product		120930					Standard	NM_000606		Approved		uc004cka.2	P07360	OTTHUMG00000020955	ENST00000224181.3:c.292C>T	9.37:g.139840397C>T	ENSP00000224181:p.Gln98*		Q14CT8|Q14CU0|Q5SQ07	Nonsense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_A1-microglobln,prints_Lipocalin	p.Q98*	ENST00000224181.3	37	c.292	CCDS7017.1	9	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632560	0.87660	.	.	ENSG00000176919	ENST00000371634;ENST00000224181	.	.	.	4.79	0.0215	0.14129	.	0.945709	0.08852	N	0.884333	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.4293	12.3777	0.55289	0.1115:0.3688:0.5197:0.0	.	.	.	.	X	98	.	ENSP00000224181:Q98X	Q	+	1	0	C8G	138960218	0.999000	0.42202	0.972000	0.41901	0.870000	0.49936	0.300000	0.19156	0.105000	0.17753	0.555000	0.69702	CAG	C8G	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.682	C8G-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C8G	HGNC	protein_coding	OTTHUMT00000055178.1	C			139840397	+1	no_errors	ENST00000224181	ensembl	human	known	70_37	nonsense	SNP	0.330	T
CMKLR1	1240	genome.wustl.edu	37	12	108685872	108685872	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:108685872G>A	ENST00000312143.7	-	3	1231	c.868C>T	c.(868-870)Cct>Tct	p.P290S	CMKLR1_ENST00000397688.2_Missense_Mutation_p.P288S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.P290S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.P290S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.P288S	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	290					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.P288T(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACAGAGCCAGGCATGGCAGTG	0.532																																																	1	Substitution - Missense(1)	lung(1)											62.0	68.0	66.0					12																	108685872		2093	4229	6322	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.868C>T	12.37:g.108685872G>A	ENSP00000311733:p.Pro290Ser		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_Anphylx_rcpt,prints_ATII_rcpt	p.P290S	ENST00000312143.7	37	c.868	CCDS44965.1	12	.	.	.	.	.	.	.	.	.	.	g	1.872	-0.459916	0.04508	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.658399	0.15213	N	0.274400	T	0.71013	0.3290	L	0.52823	1.66	0.33725	D	0.617548	B	0.25904	0.137	B	0.34346	0.18	T	0.71649	-0.4529	10	0.21014	T	0.42	.	18.3233	0.90246	0.0:0.0:1.0:0.0	.	290	Q99788	CML1_HUMAN	S	290;290;288;288;290	ENSP00000311733:P290S;ENSP00000401293:P290S;ENSP00000380803:P288S;ENSP00000447579:P288S;ENSP00000449716:P290S	ENSP00000311733:P290S	P	-	1	0	CMKLR1	107210002	0.991000	0.36638	0.256000	0.24389	0.101000	0.19017	1.826000	0.39092	2.563000	0.86464	0.550000	0.68814	CCT	CMKLR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_DEZorph_rcpt,prints_ATII_rcpt		0.532	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CMKLR1	HGNC	protein_coding	OTTHUMT00000404867.1	G			108685872	-1	no_errors	ENST00000312143	ensembl	human	known	70_37	missense	SNP	0.668	A
COL9A1	1297	genome.wustl.edu	37	6	71003986	71003986	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:71003986G>C	ENST00000357250.6	-	5	738	c.580C>G	c.(580-582)Ctt>Gtt	p.L194V	COL9A1_ENST00000370496.3_Missense_Mutation_p.L194V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	194	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCAACAAAAAGAGTAGCACTA	0.443																																																	0													130.0	126.0	128.0					6																	71003986		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.580C>G	6.37:g.71003986G>C	ENSP00000349790:p.Leu194Val		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L194V	ENST00000357250.6	37	c.580	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486834	0.84854	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.06068	3.35;3.35	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.18509	0.0444	M	0.64567	1.98	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.00250	-1.1878	10	0.87932	D	0	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	194	P20849	CO9A1_HUMAN	V	194	ENSP00000349790:L194V;ENSP00000359527:L194V	ENSP00000349790:L194V	L	-	1	0	COL9A1	71060707	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.293000	0.78740	2.890000	0.99128	0.650000	0.86243	CTT	COL9A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.443	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	G			71003986	-1	no_errors	ENST00000357250	ensembl	human	known	70_37	missense	SNP	1.000	C
COPE	11316	genome.wustl.edu	37	19	19021651	19021651	+	Intron	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:19021651G>A	ENST00000262812.4	-	3	339				COPE_ENST00000349893.4_Intron|COPE_ENST00000600932.1_Intron|COPE_ENST00000351079.4_Intron|AC002985.3_ENST00000596918.1_Intron|COPE_ENST00000598969.1_5'UTR	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon						COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						CAGGGGAGCAGAGGGGAGAGG	0.622																																																	0																																										SO:0001627	intron_variant	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.290+128C>T	19.37:g.19021651G>A			A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	RNA	SNP	-	NULL	ENST00000262812.4	37	NULL	CCDS12387.1	19																																																																																			COPE	-	-		0.622	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	G	NM_007263		19021651	-1	no_errors	ENST00000597646	ensembl	human	known	70_37	rna	SNP	0.000	A
CPSF2	53981	genome.wustl.edu	37	14	92625343	92625343	+	Nonsense_Mutation	SNP	C	C	G	rs576542620		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr14:92625343C>G	ENST00000298875.4	+	14	2123	c.1838C>G	c.(1837-1839)tCa>tGa	p.S613*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	613					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TTAAAAGACTCACTTGTCAGC	0.368																																					Ovarian(78;28 1788 18702 44111)												0													80.0	80.0	80.0					14																	92625343		2203	4300	6503	SO:0001587	stop_gained	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1838C>G	14.37:g.92625343C>G	ENSP00000298875:p.Ser613*		B3KME1|Q6NSJ1|Q9H3W7	Nonsense_Mutation	SNP	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.S613*	ENST00000298875.4	37	c.1838	CCDS9902.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.5|29.5	5.011519|5.011519	0.93346|0.93346	.|.	.|.	ENSG00000165934|ENSG00000165934	ENST00000555244|ENST00000298875	.|.	.|.	.|.	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.77350|.	0.4117|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.79701|.	-0.1693|.	3|.	.|0.59425	.|D	.|0.04	.|.	18.5219|18.5219	0.90956|0.90956	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	130|613	.|.	.|ENSP00000298875:S613X	H|S	+|+	1|2	0|0	CPSF2|CPSF2	91695096|91695096	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	7.702000|7.702000	0.84576|0.84576	2.369000|2.369000	0.80426|0.80426	0.313000|0.313000	0.20887|0.20887	CAC|TCA	CPSF2	-	NULL		0.368	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1	C			92625343	+1	no_errors	ENST00000298875	ensembl	human	known	70_37	nonsense	SNP	1.000	G
CREB1	1385	genome.wustl.edu	37	2	208440097	208440097	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:208440097C>T	ENST00000432329.2	+	7	900	c.649C>T	c.(649-651)Ccg>Tcg	p.P217S	CREB1_ENST00000374397.4_Intron|CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000430624.1_Missense_Mutation_p.P203S|CREB1_ENST00000353267.3_Missense_Mutation_p.P203S|CREB1_ENST00000536726.1_Missense_Mutation_p.P203S	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	217					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	AGCCACTCAGCCGGGTACTAC	0.498			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																			Dom	yes		2	2q34	1385	cAMP responsive element binding protein 1		M	0													135.0	119.0	125.0					2																	208440097		2203	4300	6503	SO:0001583	missense	1385			M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.649C>T	2.37:g.208440097C>T	ENSP00000387699:p.Pro217Ser		P21934|Q6V963|Q9UMA7	Missense_Mutation	SNP	pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.P217S	ENST00000432329.2	37	c.649	CCDS2375.1	2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777042	0.49786	.	.	ENSG00000118260	ENST00000430624;ENST00000432329;ENST00000353267;ENST00000536726;ENST00000448277;ENST00000455757	T;T;T;T;T;T	0.77877	0.45;0.45;0.45;-1.13;0.49;1.48	5.87	4.95	0.65309	.	0.100236	0.64402	D	0.000001	T	0.75421	0.3847	N	0.24115	0.695	0.80722	D	1	P;B;B	0.46395	0.877;0.012;0.03	P;B;B	0.49999	0.628;0.012;0.008	T	0.77373	-0.2612	10	0.51188	T	0.08	-11.5668	18.6514	0.91431	0.0:0.8738:0.1262:0.0	.	203;203;217	F5H0V3;Q53X93;P16220	.;.;CREB1_HUMAN	S	203;217;203;203;163;30	ENSP00000405539:P203S;ENSP00000387699:P217S;ENSP00000236995:P203S;ENSP00000445892:P203S;ENSP00000405711:P163S;ENSP00000401803:P30S	ENSP00000236995:P203S	P	+	1	0	CREB1	208148342	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.042000	0.70996	2.785000	0.95823	0.655000	0.94253	CCG	CREB1	-	NULL		0.498	CREB1-001	KNOWN	basic|CCDS	protein_coding	CREB1	HGNC	protein_coding	OTTHUMT00000256467.3	C	NM_134442		208440097	+1	no_errors	ENST00000432329	ensembl	human	known	70_37	missense	SNP	1.000	T
CSF2RB	1439	genome.wustl.edu	37	22	37334480	37334480	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr22:37334480T>C	ENST00000403662.3	+	14	2852	c.2630T>C	c.(2629-2631)cTg>cCg	p.L877P	CSF2RB_ENST00000536485.1_Missense_Mutation_p.L824P|CSF2RB_ENST00000262825.5_Missense_Mutation_p.L883P|CSF2RB_ENST00000406230.1_Missense_Mutation_p.L883P			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	877					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TTCAAAGCCCTGAAGCAGCAG	0.602																																																	0													62.0	69.0	66.0					22																	37334480		2203	4300	6503	SO:0001583	missense	1439			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.2630T>C	22.37:g.37334480T>C	ENSP00000384053:p.Leu877Pro		Q5JZI1|Q6ICE0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_IL3_rcpt_beta,pfscan_Fibronectin_type3	p.L883P	ENST00000403662.3	37	c.2648	CCDS13936.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.41|13.41	2.230014|2.230014	0.39399|0.39399	.|.	.|.	ENSG00000100368|ENSG00000100368	ENST00000539104|ENST00000403662;ENST00000262825;ENST00000406230;ENST00000536485	.|D;D;D;D	.|0.95001	.|-3.06;-3.57;-3.57;-3.58	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|1.514340	.|0.04550	.|N	.|0.389750	.|D	.|0.96500	.|0.8858	L|L	0.52573|0.52573	1.65|1.65	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74348	.|0.983;0.936	.|D	.|0.89590	.|0.3827	.|10	.|0.87932	.|D	.|0	.|-15.5369	11.0406|11.0406	0.47829|0.47829	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|883;877	.|P32927-2;P32927	.|.;IL3RB_HUMAN	.|P	-1|877;883;883;824	.|ENSP00000384053:L877P;ENSP00000262825:L883P;ENSP00000385271:L883P;ENSP00000440003:L824P	.|ENSP00000262825:L883P	.|L	+|+	.|2	.|0	CSF2RB|CSF2RB	35664426|35664426	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.081000|0.081000	0.17604|0.17604	1.492000|1.492000	0.35594|0.35594	2.096000|2.096000	0.63516|0.63516	0.528000|0.528000	0.53228|0.53228	.|CTG	CSF2RB	-	pirsf_IL3_rcpt_beta		0.602	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF2RB	HGNC	protein_coding	OTTHUMT00000318854.1	T	NM_000395		37334480	+1	no_errors	ENST00000262825	ensembl	human	known	70_37	missense	SNP	1.000	C
DCAF7	10238	genome.wustl.edu	37	17	61670999	61670999	+	3'UTR	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:61670999G>A	ENST00000310827.4	+	0	5711				DCAF7_ENST00000577702.1_3'UTR	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7						multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						ACCTTGGGTTGATTGTGGTAT	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	10238			U94747	CCDS74127.1	17q23.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000136485		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30915	protein-coding gene	gene with protein product	"""seven-WD-repeat protein of the AN11 family-1"", ""human anthocyanin"""	605973	"""WD repeat domain 68"""	WDR68		9192870, 20940704	Standard	NM_005828		Approved	HAN11, SWAN-1	uc002jbc.4	P61962		ENST00000310827.4:c.*4465G>A	17.37:g.61670999G>A			B4E039|D3DU14|O15491|Q9DAE4	RNA	SNP	-	NULL	ENST00000310827.4	37	NULL		17																																																																																			DCAF7	-	-		0.378	DCAF7-201	KNOWN	basic|appris_principal	protein_coding	DCAF7	HGNC	protein_coding		G	NM_005828		61670999	+1	no_errors	ENST00000577702	ensembl	human	known	70_37	rna	SNP	0.988	A
DNAH1	25981	genome.wustl.edu	37	3	52397151	52397151	+	Silent	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:52397151C>G	ENST00000420323.2	+	32	5496	c.5235C>G	c.(5233-5235)ctC>ctG	p.L1745L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1745	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCAGCTCAGCTCCCAGG	0.557																																																	0													95.0	95.0	95.0					3																	52397151		2013	4184	6197	SO:0001819	synonymous_variant	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5235C>G	3.37:g.52397151C>G			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.L1745	ENST00000420323.2	37	c.5235	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	C	NM_015512		52397151	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.970	G
DNAH10	196385	genome.wustl.edu	37	12	124256189	124256189	+	Silent	SNP	C	C	T	rs532577289		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:124256189C>T	ENST00000409039.3	+	3	182	c.157C>T	c.(157-159)Cta>Tta	p.L53L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	53	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGGCCAACCTCTAAACAGAGA	0.423																																																	0													86.0	79.0	81.0					12																	124256189		1870	4095	5965	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.157C>T	12.37:g.124256189C>T			C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase	p.L53	ENST00000409039.3	37	c.157	CCDS9255.2	12																																																																																			DNAH10	-	NULL		0.423	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124256189	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.000	T
DOT1L	84444	genome.wustl.edu	37	19	2225393	2225393	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:2225393G>C	ENST00000398665.3	+	26	3639	c.3603G>C	c.(3601-3603)gaG>gaC	p.E1201D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1201					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAATTGAGAGAAAAATTG	0.458																																																	0													102.0	99.0	100.0					19																	2225393		1933	4138	6071	SO:0001583	missense	84444			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.3603G>C	19.37:g.2225393G>C	ENSP00000381657:p.Glu1201Asp		O60379|Q96JL1	Missense_Mutation	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.E1201D	ENST00000398665.3	37	c.3603	CCDS42460.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.78|14.78	2.637387|2.637387	0.47049|0.47049	.|.	.|.	ENSG00000104885|ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000457590|ENST00000440640	T;T|.	0.52754|.	0.85;0.65|.	4.9|4.9	1.31|1.31	0.21738|0.21738	.|.	0.232564|.	0.42294|.	D|.	0.000732|.	T|T	0.56307|0.56307	0.1976|0.1976	M|M	0.65498|0.65498	2.005|2.005	0.31811|0.31811	N|N	0.627083|0.627083	D;P|.	0.76494|.	0.999;0.493|.	D;B|.	0.76071|.	0.987;0.167|.	T|T	0.60924|0.60924	-0.7166|-0.7166	10|5	0.87932|.	D|.	0|.	-14.4349|-14.4349	9.0888|9.0888	0.36598|0.36598	0.3247:0.0:0.6753:0.0|0.3247:0.0:0.6753:0.0	.|.	1201;1201|.	Q8TEK3;Q8TEK3-2|.	DOT1L_HUMAN;.|.	D|T	1201;1201;81|988	ENSP00000381657:E1201D;ENSP00000407411:E81D|.	ENSP00000221482:E1201D|.	E|R	+|+	3|2	2|0	DOT1L|DOT1L	2176393|2176393	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.911000|0.911000	0.54048|0.54048	0.561000|0.561000	0.23515|0.23515	0.493000|0.493000	0.27837|0.27837	0.555000|0.555000	0.69702|0.69702	GAG|AGA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met		0.458	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1	G	NM_032482		2225393	+1	no_errors	ENST00000398665	ensembl	human	known	70_37	missense	SNP	1.000	C
SNORA11	677799	genome.wustl.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																																	0																																												0			AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT				RNA	DEL	-	NULL	ENST00000408133.1	37	NULL		14																																																																																			SNORA11	-	-		0.353	SNORA11.1-201	NOVEL	basic	snoRNA	ENSG00000221060	RFAM	snoRNA		T	NR_002953		70270922	-1	no_errors	ENST00000408133	ensembl	human	novel	70_37	rna	DEL	0.003	-
RP11-403I13.8	0	genome.wustl.edu	37	1	149291295	149291295	+	lincRNA	SNP	G	G	A	rs61789501		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:149291295G>A	ENST00000433084.1	+	0	1538																											tacacaagccgtaactactgc	0.458																																																	0																																												0																															1.37:g.149291295G>A				RNA	SNP	-	NULL	ENST00000433084.1	37	NULL		1																																																																																			RP11-403I13.8	-	-		0.458	RP11-403I13.8-001	KNOWN	basic	lincRNA	ENSG00000235999	Clone_based_vega_gene	lincRNA	OTTHUMT00000099633.1	G			149291295	+1	no_errors	ENST00000433084	ensembl	human	known	70_37	rna	SNP	0.029	A
AC004069.2	0	genome.wustl.edu	37	4	106058719	106058719	+	lincRNA	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr4:106058719C>T	ENST00000504082.1	-	0	266																											CCTGTAGCTTCCCTGTCATTC	0.428																																																	0																																												0																															4.37:g.106058719C>T				RNA	SNP	-	NULL	ENST00000504082.1	37	NULL		4																																																																																			AC004069.2	-	-		0.428	AC004069.2-001	KNOWN	basic	lincRNA	ENSG00000251259	Clone_based_vega_gene	lincRNA	OTTHUMT00000363314.1	C			106058719	-1	no_errors	ENST00000504082	ensembl	human	known	70_37	rna	SNP	0.000	T
TENM4	26011	genome.wustl.edu	37	11	78807960	78807961	+	Intron	INS	-	-	GC	rs376867043|rs66695606|rs369257696|rs398016808		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:78807960_78807961insGC	ENST00000278550.7	-	5	398				CTD-2337I7.1_ENST00000526091.1_lincRNA	NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4						cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGcacgcacatgcgcgcgcgcg	0.485																																																	0																																										SO:0001627	intron_variant	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.65-26906->GC	11.37:g.78807969_78807970dupGC			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	RNA	INS	-	NULL	ENST00000278550.7	37	NULL	CCDS44688.1	11																																																																																			CTD-2337I7.1	-	-		0.485	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255345	Clone_based_vega_gene	protein_coding	OTTHUMT00000391406.2	-			78807961	+1	no_errors	ENST00000526091	ensembl	human	known	70_37	rna	INS	0.000:0.000	GC
EXD3	54932	genome.wustl.edu	37	9	140242526	140242526	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:140242526G>A	ENST00000340951.4	-	17	2190	c.1995C>T	c.(1993-1995)gcC>gcT	p.A665A	EXD3_ENST00000342129.4_Silent_p.A316A	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AACTCACCTCGGCCGCCCTGC	0.642																																																	0													18.0	23.0	21.0					9																	140242526		2108	4211	6319	SO:0001819	synonymous_variant	54932				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1995C>T	9.37:g.140242526G>A			Q6P1M1|Q8IXT8	Silent	SNP	pfam_DUF82,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.A665	ENST00000340951.4	37	c.1995	CCDS48066.1	9																																																																																			EXD3	-	pfam_DUF82		0.642	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	G	NM_017820		140242526	-1	no_errors	ENST00000340951	ensembl	human	known	70_37	silent	SNP	0.886	A
FBXW7	55294	genome.wustl.edu	37	4	153247304	153247304	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr4:153247304G>C	ENST00000281708.4	-	10	2727	c.1498C>G	c.(1498-1500)Cat>Gat	p.H500D	FBXW7_ENST00000393956.3_Missense_Mutation_p.H324D|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420D|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500D|FBXW7_ENST00000603548.1_Missense_Mutation_p.H500D|FBXW7_ENST00000296555.5_Missense_Mutation_p.H382D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	500					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.H500N(1)|p.H420N(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTGCAACATGACCCATCAAA	0.463			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	3	Substitution - Missense(2)|Unknown(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)											155.0	145.0	149.0					4																	153247304		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1498C>G	4.37:g.153247304G>C	ENSP00000281708:p.His500Asp		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H500D	ENST00000281708.4	37	c.1498	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874594	0.72180	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.81247	-1.47;-1.47;-1.47;-1.47	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	H	0.95611	3.695	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.94587	0.7784	10	0.87932	D	0	-18.2384	19.956	0.97218	0.0:0.0:1.0:0.0	.	324;500;382;420	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	D	500;382;420;324	ENSP00000281708:H500D;ENSP00000296555:H382D;ENSP00000263981:H420D;ENSP00000377528:H324D	ENSP00000263981:H420D	H	-	1	0	FBXW7	153466754	1.000000	0.71417	0.997000	0.53966	0.437000	0.31866	9.772000	0.98984	2.788000	0.95919	0.557000	0.71058	CAT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.463	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247304	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C
FGD5	152273	genome.wustl.edu	37	3	14860691	14860691	+	Missense_Mutation	SNP	G	G	A	rs368711724	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:14860691G>A	ENST00000285046.5	+	1	223	c.113G>A	c.(112-114)cGg>cAg	p.R38Q	FGD5_ENST00000543601.1_5'Flank	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	38					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGCAACGGGCGGCTGCCCTGT	0.612													G|||	7	0.00139776	0.0045	0.0	5008	,	,		18182	0.0		0.0	False		,,,				2504	0.001																0								G	GLN/ARG	4,1380		0,4,688	29.0	31.0	30.0		113	1.2	0.9	3		30	0,3182		0,0,1591	no	missense	FGD5	NM_152536.3	43	0,4,2279	AA,AG,GG		0.0,0.289,0.0876	benign	38/1463	14860691	4,4562	692	1591	2283	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.113G>A	3.37:g.14860691G>A	ENSP00000285046:p.Arg38Gln		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.R38Q	ENST00000285046.5	37	c.113	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	14.22	2.469688	0.43839	0.00289	0.0	ENSG00000154783	ENST00000285046	T	0.74632	-0.86	5.76	1.25	0.21368	.	0.302725	0.27609	N	0.018607	T	0.50735	0.1633	N	0.14661	0.345	0.28045	N	0.933587	B	0.23650	0.089	B	0.09377	0.004	T	0.41822	-0.9487	10	0.59425	D	0.04	-15.0555	4.8283	0.13427	0.623:0.1655:0.2114:0.0	.	38	Q6ZNL6	FGD5_HUMAN	Q	38	ENSP00000285046:R38Q	ENSP00000285046:R38Q	R	+	2	0	FGD5	14835695	0.302000	0.24454	0.910000	0.35882	0.549000	0.35272	0.396000	0.20867	-0.002000	0.14469	0.591000	0.81541	CGG	FGD5	-	NULL		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	G	NM_152536		14860691	+1	no_errors	ENST00000285046	ensembl	human	known	70_37	missense	SNP	0.546	A
FGF9	2254	genome.wustl.edu	37	13	22275848	22275848	+	3'UTR	SNP	A	A	G	rs138451360|rs112896362|rs61706549|rs201279299|rs79021222|rs9796160|rs71093347|rs398037423	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr13:22275848A>G	ENST00000382353.5	+	0	1431				FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9						angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GAgtgtgtgtatgtgtgtgtg	0.527																																					Melanoma(195;1939 2127 12623 13963 52730)												0																																										SO:0001624	3_prime_UTR_variant	2254			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.*274A>G	13.37:g.22275848A>G			A8K427|Q3SY32	RNA	SNP	-	NULL	ENST00000382353.5	37	NULL	CCDS9298.1	13																																																																																			FGF9	-	-		0.527	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF9	HGNC	protein_coding	OTTHUMT00000046002.2	A			22275848	+1	no_errors	ENST00000478546	ensembl	human	known	70_37	rna	SNP	0.004	G
FOLR3	2352	genome.wustl.edu	37	11	71850074	71850074	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:71850074C>T	ENST00000445078.2	+	3	429	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	FOLR3_ENST00000456237.1_Missense_Mutation_p.P122S|FOLR3_ENST00000442948.2_Missense_Mutation_p.S79F			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	92					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGGACACCTCCCGCCTGTAC	0.567																																																	0													43.0	48.0	46.0					11																	71850074		2200	4293	6493	SO:0001583	missense	2352			U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.358C>T	11.37:g.71850074C>T	ENSP00000390338:p.Pro120Ser		J3KQ90|Q05C14	Missense_Mutation	SNP	pfam_Folate_rcpt-like	p.P122S	ENST00000445078.2	37	c.364		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	9.372|9.372	1.070744|1.070744	0.20147|0.20147	.|.	.|.	ENSG00000110203|ENSG00000110203	ENST00000445078;ENST00000456237|ENST00000442948	T;T|T	0.73363|0.78595	-0.74;-0.49|-1.19	3.21|3.21	2.29|2.29	0.28610|0.28610	.|Folate receptor-like (1);	.|0.000000	.|0.64402	.|U	.|0.000005	D|D	0.84973|0.84973	0.5591|0.5591	.|.	.|.	.|.	0.48696|0.48696	D|D	0.999698|0.999698	P|D	0.45768|0.57257	0.866|0.979	P|D	0.45998|0.65573	0.5|0.936	D|D	0.84718|0.84718	0.0738|0.0738	8|9	0.41790|0.72032	T|D	0.15|0.01	.|.	9.5691|9.5691	0.39416|0.39416	0.0:0.8909:0.0:0.1091|0.0:0.8909:0.0:0.1091	.|.	122|77	E9PGT2|P41439	.|FOLR3_HUMAN	S|F	120;122|79	ENSP00000390338:P120S;ENSP00000399235:P122S|ENSP00000411161:S79F	ENSP00000390338:P120S|ENSP00000325032:S77F	P|S	+|+	1|2	0|0	FOLR3|FOLR3	71527722|71527722	1.000000|1.000000	0.71417|0.71417	0.009000|0.009000	0.14445|0.14445	0.002000|0.002000	0.02628|0.02628	5.888000|5.888000	0.69758|0.69758	0.688000|0.688000	0.31529|0.31529	-0.189000|-0.189000	0.12847|0.12847	CCC|TCC	FOLR3	-	NULL		0.567	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	FOLR3	HGNC	protein_coding	OTTHUMT00000396739.1	C	NM_000804		71850074	+1	no_errors	ENST00000456237	ensembl	human	known	70_37	missense	SNP	0.964	T
FRA10AC1	118924	genome.wustl.edu	37	10	95431876	95431876	+	Intron	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr10:95431876G>A	ENST00000359204.4	-	13	1024				FRA10AC1_ENST00000460752.1_5'UTR|FRA10AC1_ENST00000536233.1_Intron|FRA10AC1_ENST00000371430.2_Intron	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						AATGTGGCCTGTCAATACAGA	0.348																																																	0																																										SO:0001627	intron_variant	118924			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.827-1271C>T	10.37:g.95431876G>A			C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	RNA	SNP	-	NULL	ENST00000359204.4	37	NULL	CCDS7430.1	10																																																																																			FRA10AC1	-	-		0.348	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	G	NM_145246		95431876	-1	no_errors	ENST00000460752	ensembl	human	known	70_37	rna	SNP	0.979	A
FSIP2	401024	genome.wustl.edu	37	2	186672655	186672655	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:186672655G>A	ENST00000424728.1	+	17	18622	c.18622G>A	c.(18622-18624)Gat>Aat	p.D6208N	FSIP2_ENST00000343098.5_Missense_Mutation_p.D6297N			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6208										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTAGAGACTGATATGCAAAA	0.289																																																	0													24.0	22.0	23.0					2																	186672655		1787	4044	5831	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.18622G>A	2.37:g.186672655G>A	ENSP00000401306:p.Asp6208Asn		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.D6297N	ENST00000424728.1	37	c.18889		2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889356	0.52014	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.46451	0.87;0.87	4.96	4.96	0.65561	.	0.354983	0.24147	N	0.041114	T	0.40743	0.1129	L	0.34521	1.04	0.26584	N	0.973316	.	.	.	.	.	.	T	0.32877	-0.9890	8	0.40728	T	0.16	.	13.5718	0.61851	0.0:0.0:1.0:0.0	.	.	.	.	N	6297;6208	ENSP00000344403:D6297N;ENSP00000401306:D6208N	ENSP00000344403:D6297N	D	+	1	0	FSIP2	186380900	0.996000	0.38824	0.929000	0.37066	0.327000	0.28475	3.097000	0.50251	2.580000	0.87095	0.484000	0.47621	GAT	FSIP2	-	NULL		0.289	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186672655	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.965	A
GANAB	23193	genome.wustl.edu	37	11	62398095	62398095	+	Missense_Mutation	SNP	C	C	T	rs377690186		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:62398095C>T	ENST00000356638.3	-	11	1380	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	GANAB_ENST00000534779.1_Missense_Mutation_p.R363H|GANAB_ENST00000534422.1_5'Flank|GANAB_ENST00000540933.1_Missense_Mutation_p.R358H|GANAB_ENST00000346178.4_Missense_Mutation_p.R477H	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	455					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AGAAGCCAAGCGCTCAAGCAT	0.547																																					Melanoma(23;1005 1074 15747 18937)												0								C	HIS/ARG,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	65.0	65.0	65.0		1364,1430	1.9	0.2	11		65	0,8598		0,0,4299	no	missense,missense	GANAB	NM_198334.1,NM_198335.2	29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	455/945,477/967	62398095	1,13001	2202	4299	6501	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.1364G>A	11.37:g.62398095C>T	ENSP00000349053:p.Arg455His		A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.R477H	ENST00000356638.3	37	c.1430	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334866	0.24253	2.27E-4	0.0	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87	5.44	1.9	0.25705	Glycoside hydrolase, superfamily (1);	0.666568	0.15967	N	0.235979	T	0.80954	0.4723	N	0.17594	0.5	0.09310	N	0.999998	B;B;B;B	0.10296	0.0;0.0;0.002;0.003	B;B;B;B	0.10450	0.001;0.001;0.003;0.005	T	0.67078	-0.5761	10	0.35671	T	0.21	-0.7405	8.4894	0.33091	0.0:0.2473:0.0:0.7527	.	341;363;455;477	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	H	477;455;363;358	ENSP00000340466:R477H;ENSP00000349053:R455H;ENSP00000435306:R363H;ENSP00000442962:R358H	ENSP00000340466:R477H	R	-	2	0	GANAB	62154671	0.000000	0.05858	0.193000	0.23327	0.896000	0.52359	-0.302000	0.08221	0.165000	0.19558	-1.074000	0.02243	CGC	GANAB	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	C	NM_198334		62398095	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	missense	SNP	0.351	T
ZFP41	286128	genome.wustl.edu	37	8	144356975	144356975	+	Intron	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr8:144356975G>A	ENST00000522452.1	+	3	2390				GLI4_ENST00000523522.1_Intron|GLI4_ENST00000340042.1_Intron|GLI4_ENST00000521682.1_Intron|GLI4_ENST00000344692.3_Missense_Mutation_p.E76K|GLI4_ENST00000517468.1_Intron|GLI4_ENST00000523812.1_3'UTR			Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CTGGCCCGGTGAGTGAGCAGA	0.637																																																	0													42.0	31.0	34.0					8																	144356975		2188	4277	6465	SO:0001627	intron_variant	2738				CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000522452.1:c.594+3G>A	8.37:g.144356975G>A			D3DWJ5	Missense_Mutation	SNP	NULL	p.E76K	ENST00000522452.1	37	c.226	CCDS6397.1	8	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442165	0.43326	.	.	ENSG00000250571	ENST00000344692	.	.	.	3.56	2.67	0.31697	.	.	.	.	.	T	0.44623	0.1302	.	.	.	0.19775	N	0.99996	.	.	.	.	.	.	T	0.36890	-0.9729	5	0.87932	D	0	.	9.176	0.37112	0.1159:0.0:0.8841:0.0	.	.	.	.	K	76	.	ENSP00000344727:E76K	E	+	1	0	GLI4	144428350	0.000000	0.05858	0.921000	0.36526	0.555000	0.35460	0.129000	0.15830	0.788000	0.33755	0.561000	0.74099	GAG	GLI4	-	NULL		0.637	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|readthrough_transcript|CCDS	protein_coding	GLI4	HGNC	protein_coding	OTTHUMT00000381125.2	G	NM_173832		144356975	+1	no_errors	ENST00000344692	ensembl	human	putative	70_37	missense	SNP	0.037	A
GRIA3	2892	genome.wustl.edu	37	X	122532563	122532563	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chrX:122532563A>G	ENST00000371251.1	+	7	1041	c.989A>G	c.(988-990)gAt>gGt	p.D330G	GRIA3_ENST00000541091.1_Missense_Mutation_p.D314G|GRIA3_ENST00000264357.5_Missense_Mutation_p.D330G|GRIA3_ENST00000542149.1_Missense_Mutation_p.D330G|GRIA3_ENST00000371256.5_Missense_Mutation_p.D330G			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	330					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CAGCGAGTAGATGTGTCCCGG	0.473																																																	0													114.0	89.0	97.0					X																	122532563		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.989A>G	X.37:g.122532563A>G	ENSP00000360297:p.Asp330Gly		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D330G	ENST00000371251.1	37	c.989	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	A	16.00	2.998820	0.54147	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.43166	0.1235	L	0.58101	1.795	0.80722	D	1	D;D;D	0.63046	0.987;0.992;0.99	D;D;D	0.74674	0.934;0.984;0.973	T	0.33574	-0.9863	10	0.87932	D	0	.	14.3681	0.66820	1.0:0.0:0.0:0.0	.	314;330;330	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	G	330;330;330;330;314	ENSP00000264357:D330G;ENSP00000446146:D330G;ENSP00000360302:D330G;ENSP00000360297:D330G;ENSP00000446440:D314G	ENSP00000264357:D330G	D	+	2	0	GRIA3	122360244	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.339000	0.96797	1.992000	0.58205	0.486000	0.48141	GAT	GRIA3	-	pfam_ANF_lig-bd_rcpt		0.473	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	A	NM_000828		122532563	+1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	G
HELZ2	85441	genome.wustl.edu	37	20	62202620	62202620	+	Intron	SNP	A	A	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:62202620A>C	ENST00000467148.1	-	2	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCCCCGCTCCAAGCTCCTGGG	0.701																																																	0																																										SO:0001627	intron_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.279-399T>G	20.37:g.62202620A>C			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			HELZ2	-	-		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	A	NM_001037335		62202620	-1	no_errors	ENST00000479540	ensembl	human	known	70_37	rna	SNP	0.503	C
HIST1H2AL	8332	genome.wustl.edu	37	6	27833221	27833221	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:27833221G>C	ENST00000357320.2	+	1	188	c.89G>C	c.(88-90)cGa>cCa	p.R30P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CCCGTGGGCCGAGTGCACCGA	0.672																																																	0													59.0	67.0	64.0					6																	27833221		2203	4300	6503	SO:0001583	missense	8332			X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.89G>C	6.37:g.27833221G>C	ENSP00000349873:p.Arg30Pro		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R30P	ENST00000357320.2	37	c.89	CCDS4634.1	6	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259562	0.39995	.	.	ENSG00000198374	ENST00000357320	D	0.85339	-1.97	4.79	3.92	0.45320	.	0.000000	0.29609	U	0.011678	D	0.85401	0.5688	.	.	.	0.35415	D	0.792737	.	.	.	.	.	.	D	0.87274	0.2288	7	0.87932	D	0	.	12.307	0.54908	0.0827:0.0:0.9173:0.0	.	.	.	.	P	30	ENSP00000349873:R30P	ENSP00000349873:R30P	R	+	2	0	HIST1H2AL	27941200	1.000000	0.71417	0.861000	0.33841	0.007000	0.05969	7.329000	0.79170	1.147000	0.42369	0.655000	0.94253	CGA	HIST1H2AL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.672	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AL	HGNC	protein_coding	OTTHUMT00000040160.1	G	NM_003511		27833221	+1	no_errors	ENST00000357320	ensembl	human	known	70_37	missense	SNP	0.999	C
KIAA1217	56243	genome.wustl.edu	37	10	24784015	24784015	+	Intron	DEL	A	A	-	rs570535110|rs398045908|rs533221743|rs78603449|rs550542591|rs71506836	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr10:24784015delA	ENST00000376454.3	+	8	1814				KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000458595.1_Intron	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217						embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATGGGCTTTAAAAAAAAAAA	0.383																																																	0													11.0	13.0	12.0					10																	24784015		691	1590	2281	SO:0001627	intron_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1785-61A>-	10.37:g.24784015delA			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	RNA	DEL	-	NULL	ENST00000376454.3	37	NULL	CCDS31165.1	10																																																																																			KIAA1217	-	-		0.383	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	A	NM_019590		24784015	+1	no_errors	ENST00000460373	ensembl	human	putative	70_37	rna	DEL	0.000	-
KRT6B	3854	genome.wustl.edu	37	12	52844261	52844261	+	Silent	SNP	G	G	A	rs370270393		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:52844261G>A	ENST00000252252.3	-	2	731	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	228	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GTTCCCCCACGATGTTGTCCA	0.582																																																	0								G		0,4406		0,0,2203	198.0	185.0	189.0		684	1.8	0.0	12		189	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT6B	NM_005555.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		228/565	52844261	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.684C>T	12.37:g.52844261G>A			P48669	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I228	ENST00000252252.3	37	c.684	CCDS8828.1	12																																																																																			KRT6B	-	pfam_F		0.582	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	G	NM_005555		52844261	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	silent	SNP	0.001	A
KRT6B	3854	genome.wustl.edu	37	12	52845362	52845362	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:52845362G>C	ENST00000252252.3	-	1	548	c.501C>G	c.(499-501)atC>atG	p.I167M		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	167	Coil 1A.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TGAGGGTCTTGATCTGCTCAC	0.587																																																	0													55.0	72.0	66.0					12																	52845362		2202	4278	6480	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.501C>G	12.37:g.52845362G>C	ENSP00000252252:p.Ile167Met		P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.I167M	ENST00000252252.3	37	c.501	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579057	0.46006	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.87103	-2.21	3.28	3.28	0.37604	Filament (1);	0.000000	0.64402	D	0.000009	D	0.91446	0.7300	M	0.74467	2.265	0.40944	D	0.984491	D	0.65815	0.995	D	0.70016	0.967	D	0.91761	0.5420	10	0.72032	D	0.01	.	9.7405	0.40416	0.0992:0.0:0.9008:0.0	.	167	P04259	K2C6B_HUMAN	M	167	ENSP00000252252:I167M	ENSP00000252252:I167M	I	-	3	3	KRT6B	51131629	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	3.106000	0.50322	2.160000	0.67779	0.298000	0.19748	ATC	KRT6B	-	pfam_F,prints_Keratin_II		0.587	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	G	NM_005555		52845362	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	1.000	C
LAMA5	3911	genome.wustl.edu	37	20	60904023	60904023	+	Missense_Mutation	SNP	C	C	T	rs139764752		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:60904023C>T	ENST00000252999.3	-	34	4390	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1442	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCACCTACTTCGTGGCAGCCA	0.622																																																	0								C	LYS/GLU	0,4404		0,0,2202	54.0	56.0	55.0		4324	2.4	1.0	20	dbSNP_134	55	1,8597	1.2+/-3.3	0,1,4298	yes	missense	LAMA5	NM_005560.3	56	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1442/3696	60904023	1,13001	2202	4299	6501	SO:0001583	missense	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.4324G>A	20.37:g.60904023C>T	ENSP00000252999:p.Glu1442Lys		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.E1442K	ENST00000252999.3	37	c.4324	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	15.11	2.736555	0.49045	0.0	1.16E-4	ENSG00000130702	ENST00000252999	T	0.61742	0.08	4.47	2.4	0.29515	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.57829	0.2080	L	0.37897	1.145	0.80722	D	1	D	0.67145	0.996	P	0.58130	0.833	T	0.49606	-0.8922	10	0.13470	T	0.59	.	14.0264	0.64588	0.0:0.7199:0.2801:0.0	.	1442	O15230	LAMA5_HUMAN	K	1442	ENSP00000252999:E1442K	ENSP00000252999:E1442K	E	-	1	0	LAMA5	60337418	1.000000	0.71417	0.996000	0.52242	0.700000	0.40528	5.549000	0.67261	0.267000	0.21916	0.455000	0.32223	GAA	LAMA5	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.622	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	C	NM_005560		60904023	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	missense	SNP	1.000	T
LAMA5	3911	genome.wustl.edu	37	20	60905569	60905569	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:60905569G>A	ENST00000252999.3	-	31	4020	c.3954C>T	c.(3952-3954)ctC>ctT	p.L1318L	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1318	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGGCGTTGATGAGGACTTCCA	0.672																																																	0													35.0	29.0	31.0					20																	60905569		2179	4268	6447	SO:0001819	synonymous_variant	3911			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.3954C>T	20.37:g.60905569G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.L1318	ENST00000252999.3	37	c.3954	CCDS33502.1	20																																																																																			LAMA5	-	NULL		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	G	NM_005560		60905569	-1	no_errors	ENST00000252999	ensembl	human	known	70_37	silent	SNP	0.015	A
FAM83A	84985	genome.wustl.edu	37	8	124214648	124214648	+	Intron	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr8:124214648C>T	ENST00000518448.1	+	5	2787				FAM83A_ENST00000536633.1_Intron|FAM83A-AS1_ENST00000517519.1_RNA|FAM83A_ENST00000522648.1_Intron|FAM83A-AS1_ENST00000523330.1_RNA|FAM83A_ENST00000318462.6_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A-AS1_ENST00000520576.1_RNA			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			atcattgcctcagagacctct	0.468																																																	0																																										SO:0001627	intron_variant	100131726			BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.774-4749C>T	8.37:g.124214648C>T			Q71HL2|Q8N7I1|Q96I47	RNA	SNP	-	NULL	ENST00000518448.1	37	NULL	CCDS6340.1	8																																																																																			RP11-539E17.4	-	-		0.468	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131726	Clone_based_vega_gene	protein_coding	OTTHUMT00000381737.1	C	NM_032899		124214648	-1	no_errors	ENST00000517519	ensembl	human	known	70_37	rna	SNP	0.099	T
LINC01410	103352539	genome.wustl.edu	37	9	66466650	66466650	+	lincRNA	SNP	G	G	C	rs1133399	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:66466650G>C	ENST00000424345.1	+	0	1283																											gctaataaaggactccttaat	0.478																																																	0																																												100996870																															9.37:g.66466650G>C				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.478	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	G			66466650	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.105	C
LRP4	4038	genome.wustl.edu	37	11	46884233	46884233	+	Missense_Mutation	SNP	C	C	T	rs150211735		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:46884233C>T	ENST00000378623.1	-	37	5551	c.5309G>A	c.(5308-5310)cGa>cAa	p.R1770Q	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1770					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTGGATGTTCGGTAGGAGGG	0.423																																																	0								C	GLN/ARG	3,4399	6.2+/-15.9	0,3,2198	274.0	256.0	262.0		5309	5.6	1.0	11	dbSNP_134	262	0,8598		0,0,4299	yes	missense	LRP4	NM_002334.3	43	0,3,6497	TT,TC,CC		0.0,0.0682,0.0231	possibly-damaging	1770/1906	46884233	3,12997	2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.5309G>A	11.37:g.46884233C>T	ENSP00000367888:p.Arg1770Gln		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R1770Q	ENST00000378623.1	37	c.5309	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.930182	0.97116	6.82E-4	0.0	ENSG00000134569	ENST00000378623	D	0.89875	-2.58	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000002	D	0.90283	0.6961	N	0.24115	0.695	0.80722	D	1	D	0.64830	0.994	D	0.64042	0.921	D	0.90224	0.4274	10	0.44086	T	0.13	.	19.7154	0.96115	0.0:1.0:0.0:0.0	.	1770	O75096	LRP4_HUMAN	Q	1770	ENSP00000367888:R1770Q	ENSP00000367888:R1770Q	R	-	2	0	LRP4	46840809	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.461000	0.80834	2.664000	0.90586	0.655000	0.94253	CGA	LRP4	-	NULL		0.423	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	C	NM_002334		46884233	-1	no_errors	ENST00000378623	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC1	55227	genome.wustl.edu	37	6	53784277	53784277	+	Intron	SNP	A	A	T	rs59865937		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:53784277A>T	ENST00000370888.1	+	12	1383				RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1							cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		TCtttttttaaaaaaaaaaaa	0.373																																																	0													12.0	11.0	11.0					6																	53784277		1772	3970	5742	SO:0001627	intron_variant	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1107-19A>T	6.37:g.53784277A>T			Q5TGN3|Q9HAC0|Q9NVF1	RNA	SNP	-	NULL	ENST00000370888.1	37	NULL	CCDS4953.2	6																																																																																			LRRC1	-	-		0.373	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	A	NM_025168		53784277	+1	no_errors	ENST00000490222	ensembl	human	known	70_37	rna	SNP	0.000	T
MAP2K3	5606	genome.wustl.edu	37	17	21201725	21201725	+	Splice_Site	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:21201725G>C	ENST00000342679.4	+	2	299	c.50G>C	c.(49-51)gGa>gCa	p.G17A	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	17					activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TCCATTCTAGGAAAATCCAAG	0.577																																																	0													223.0	225.0	224.0					17																	21201725		2203	4300	6503	SO:0001630	splice_region_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.50-1G>C	17.37:g.21201725G>C			B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.G17A	ENST00000342679.4	37	c.50	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942685	0.34283	.	.	ENSG00000034152	ENST00000342679;ENST00000316920	T	0.71698	-0.59	5.43	3.39	0.38822	.	0.275476	0.28996	N	0.013476	T	0.45013	0.1321	N	0.24115	0.695	0.80722	D	1	P	0.40578	0.722	B	0.21151	0.033	T	0.33189	-0.9878	10	0.25751	T	0.34	-6.9881	8.4887	0.33086	0.083:0.1546:0.7624:0.0	.	17	P46734	MP2K3_HUMAN	A	17;21	ENSP00000345083:G17A	ENSP00000319139:G21A	G	+	2	0	MAP2K3	21142318	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	1.487000	0.35540	0.749000	0.32854	0.655000	0.94253	GGA	MAP2K3	-	NULL		0.577	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	HGNC	protein_coding	OTTHUMT00000259374.2	G	NM_145109	Missense_Mutation	21201725	+1	no_errors	ENST00000342679	ensembl	human	known	70_37	missense	SNP	1.000	C
MIR205HG	642587	genome.wustl.edu	37	1	209605512	209605512	+	lincRNA	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:209605512C>T	ENST00000384891.1	+	0	35					NR_029622.1				MIR205 host gene (non-protein coding)																		CTTCTCTTGTCCTTCATTCCA	0.532																																																	0													163.0	118.0	133.0					1																	209605512		2203	4300	6503			406988					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605512C>T				RNA	SNP	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205	-	-		0.532	MIR205HG-202	KNOWN	basic	miRNA	MIR205	HGNC	lincRNA		C			209605512	+1	no_errors	ENST00000384891	ensembl	human	known	70_37	rna	SNP	1.000	T
MIR4477B	100616194	genome.wustl.edu	37	9	68415379	68415379	+	RNA	SNP	G	G	A	rs34379288		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:68415379G>A	ENST00000581659.1	+	0	72					NR_039688.1|NR_039689.1				microRNA 4477b																		tgtgattgatgggaggaggat	0.408																																																	0																																												100616194					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68415379G>A				RNA	SNP	-	NULL	ENST00000581659.1	37	NULL		9																																																																																			MIR4477B	-	-		0.408	MIR4477B-201	KNOWN	basic	miRNA	MIR4477B	HGNC	miRNA		G	NR_039689		68415379	+1	no_errors	ENST00000581659	ensembl	human	known	70_37	rna	SNP	0.197	A
MKI67	4288	genome.wustl.edu	37	10	129913804	129913804	+	Missense_Mutation	SNP	G	G	A	rs149160550		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr10:129913804G>A	ENST00000368654.3	-	7	1243	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	290					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTGACTTACGCGAGACCAAC	0.493																																																	0								G	,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	90.0	89.0		,868	-6.6	0.0	10	dbSNP_134	89	0,8600		0,0,4300	no	intron,missense	MKI67	NM_001145966.1,NM_002417.4	,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,benign	,290/3257	129913804	1,13005	2203	4300	6503	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.868C>T	10.37:g.129913804G>A	ENSP00000357643:p.Arg290Cys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R290C	ENST00000368654.3	37	c.868	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	4.062	0.009294	0.07912	2.27E-4	0.0	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.21191	2.02	3.29	-6.58	0.01836	.	3.730880	0.01095	N	0.005264	T	0.08044	0.0201	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32719	-0.9896	10	0.87932	D	0	.	4.4364	0.11552	0.1228:0.3638:0.4106:0.1027	.	290	P46013	KI67_HUMAN	C	290	ENSP00000357643:R290C	ENSP00000357643:R290C	R	-	1	0	MKI67	129803794	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.406000	0.02490	-2.635000	0.00432	-2.308000	0.00257	CGT	MKI67	-	NULL		0.493	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	G	NM_002417		129913804	-1	no_errors	ENST00000368654	ensembl	human	known	70_37	missense	SNP	0.000	A
MON1B	22879	genome.wustl.edu	37	16	77228297	77228297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr16:77228297C>T	ENST00000248248.3	+	4	891	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Nonsense_Mutation_p.Q35*|MON1B_ENST00000439557.2_Nonsense_Mutation_p.Q72*	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	181										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ACGGACTTCTCAGTCAGCAGC	0.597																																																	0													103.0	104.0	104.0					16																	77228297		2198	4300	6498	SO:0001587	stop_gained	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.541C>T	16.37:g.77228297C>T	ENSP00000248248:p.Gln181*		B4DDZ0|O94949	Nonsense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	p.Q181*	ENST00000248248.3	37	c.541	CCDS10925.1	16	.	.	.	.	.	.	.	.	.	.	C	38	7.101825	0.98063	.	.	ENSG00000103111	ENST00000248248;ENST00000439557;ENST00000545553	.	.	.	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.0379	0.71764	0.0:1.0:0.0:0.0	.	.	.	.	X	181;72;35	.	ENSP00000248248:Q181X	Q	+	1	0	MON1B	75785798	1.000000	0.71417	0.996000	0.52242	0.894000	0.52154	7.737000	0.84957	2.321000	0.78463	0.561000	0.74099	CAG	MON1B	-	pfam_Vacuolar_fusion_protein_MON1		0.597	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MON1B	HGNC	protein_coding	OTTHUMT00000269036.2	C	NM_014940		77228297	+1	no_errors	ENST00000248248	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MTL5	9633	genome.wustl.edu	37	11	68512505	68512505	+	Silent	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:68512505G>C	ENST00000255087.5	-	4	888	c.705C>G	c.(703-705)ctC>ctG	p.L235L	MTL5_ENST00000443940.2_Silent_p.L235L|MTL5_ENST00000540869.1_Intron|MTL5_ENST00000544963.1_Silent_p.L235L	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	235					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GAACCAAATGGAGTGCTTTTA	0.308																																																	0													144.0	139.0	140.0					11																	68512505		2200	4292	6492	SO:0001819	synonymous_variant	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.705C>G	11.37:g.68512505G>C			A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	pfam_CRC,superfamily_Thionin	p.L235	ENST00000255087.5	37	c.705	CCDS8184.1	11																																																																																			MTL5	-	superfamily_Thionin		0.308	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	G	NM_004923		68512505	-1	no_errors	ENST00000255087	ensembl	human	known	70_37	silent	SNP	0.814	C
MUC16	94025	genome.wustl.edu	37	19	9049262	9049262	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:9049262G>A	ENST00000397910.4	-	5	32572	c.32369C>T	c.(32368-32370)tCa>tTa	p.S10790L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10792	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACCAACCGTGATACAGCAGG	0.488																																																	0													159.0	144.0	149.0					19																	9049262		1978	4161	6139	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32369C>T	19.37:g.9049262G>A	ENSP00000381008:p.Ser10790Leu		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S10790L	ENST00000397910.4	37	c.32369	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	7.857	0.725244	0.15439	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.81	1.66	0.24008	.	.	.	.	.	T	0.02767	0.0083	N	0.24115	0.695	.	.	.	P	0.39809	0.689	B	0.41236	0.351	T	0.35226	-0.9797	8	0.87932	D	0	.	7.2903	0.26362	0.0:0.0:0.7106:0.2894	.	10790	B5ME49	.	L	10790	ENSP00000381008:S10790L	ENSP00000381008:S10790L	S	-	2	0	MUC16	8910262	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.118000	0.15605	0.646000	0.30693	0.473000	0.43528	TCA	MUC16	-	NULL		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9049262	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	A
MYO7B	4648	genome.wustl.edu	37	2	128388905	128388905	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:128388905G>A	ENST00000409816.2	+	35	5016	c.4984G>A	c.(4984-4986)Gac>Aac	p.D1662N	MYO7B_ENST00000389524.4_Missense_Mutation_p.D1662N|MYO7B_ENST00000409090.1_Missense_Mutation_p.D515N|MYO7B_ENST00000428314.1_Missense_Mutation_p.D1662N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1662	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGCCAACGTCGACCTCTGGGA	0.662																																																	0													43.0	47.0	46.0					2																	128388905		2155	4259	6414	SO:0001583	missense	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4984G>A	2.37:g.128388905G>A	ENSP00000386461:p.Asp1662Asn		Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.D1662N	ENST00000409816.2	37	c.4984	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	g	16.94	3.261575	0.59431	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.88277	-2.35;-2.36;-2.36;-2.2	5.77	3.96	0.45880	MyTH4 domain (2);	.	.	.	.	D	0.87156	0.6107	M	0.65498	2.005	0.29685	N	0.841374	D	0.59357	0.985	B	0.41988	0.372	T	0.82325	-0.0513	9	0.54805	T	0.06	.	11.3662	0.49673	0.1496:0.0:0.8504:0.0	.	1662	Q6PIF6	MYO7B_HUMAN	N	1662;1662;757;1662;515	ENSP00000374175:D1662N;ENSP00000415090:D1662N;ENSP00000386461:D1662N;ENSP00000386850:D515N	ENSP00000272666:D757N	D	+	1	0	MYO7B	128105375	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	6.375000	0.73137	0.771000	0.33359	0.655000	0.94253	GAC	MYO7B	-	smart_MyTH4_dom,pfscan_MyTH4_dom		0.662	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	G	XM_291001		128388905	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	missense	SNP	0.736	A
NARFL	64428	genome.wustl.edu	37	16	780560	780560	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr16:780560C>T	ENST00000251588.2	-	11	1304	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	NARFL_ENST00000568545.1_Missense_Mutation_p.E328K|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000540986.1_Missense_Mutation_p.E328K	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	430					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)	p.E430K(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TCGGGCGCCTCAGCCCGGACC	0.667																																																	1	Substitution - Missense(1)	lung(1)											55.0	56.0	55.0					16																	780560		2200	4294	6494	SO:0001583	missense	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1288G>A	16.37:g.780560C>T	ENSP00000251588:p.Glu430Lys		A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.E430K	ENST00000251588.2	37	c.1288	CCDS10425.1	16	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845671	0.16963	.	.	ENSG00000103245	ENST00000251588;ENST00000540986	T;T	0.40756	1.02;1.02	4.94	1.67	0.24075	Iron hydrogenase, small subunit-like (2);Iron hydrogenase (1);	0.492356	0.23043	N	0.052597	T	0.37265	0.0997	L	0.48642	1.525	0.09310	N	0.999997	B	0.13594	0.008	B	0.15052	0.012	T	0.34825	-0.9813	10	0.56958	D	0.05	-17.0274	14.8124	0.70006	0.0:0.5385:0.4615:0.0	.	430	Q9H6Q4	NARFL_HUMAN	K	430;328	ENSP00000251588:E430K;ENSP00000444008:E328K	ENSP00000251588:E430K	E	-	1	0	NARFL	720561	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.224000	0.17738	0.083000	0.17047	0.436000	0.28706	GAG	NARFL	-	pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like		0.667	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	C	NM_022493		780560	-1	no_errors	ENST00000251588	ensembl	human	known	70_37	missense	SNP	0.000	T
NARFL	64428	genome.wustl.edu	37	16	780648	780648	+	Silent	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr16:780648C>T	ENST00000251588.2	-	11	1216	c.1200G>A	c.(1198-1200)ctG>ctA	p.L400L	NARFL_ENST00000568545.1_Silent_p.L298L|NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000540986.1_Silent_p.L298L	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	400					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				CCCCGCCGTTCAGGCAGCCTA	0.701																																																	0													20.0	24.0	22.0					16																	780648		2183	4263	6446	SO:0001819	synonymous_variant	64428			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1200G>A	16.37:g.780648C>T			A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.L400	ENST00000251588.2	37	c.1200	CCDS10425.1	16																																																																																			NARFL	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase		0.701	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	C	NM_022493		780648	-1	no_errors	ENST00000251588	ensembl	human	known	70_37	silent	SNP	0.886	T
NCR1	9437	genome.wustl.edu	37	19	55417656	55417656	+	Splice_Site	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:55417656G>A	ENST00000291890.4	+	2	72		c.e2-1		NCR1_ENST00000338835.5_Splice_Site|NCR1_ENST00000350790.5_Splice_Site|NCR1_ENST00000447255.1_Splice_Site|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000594765.1_Splice_Site|NCR1_ENST00000357397.5_Intron	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1						cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCGTCTTCCAGGGCTGTGTCT	0.607																																																	0													113.0	92.0	99.0					19																	55417656		2203	4300	6503	SO:0001630	splice_region_variant	9437			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.35-1G>A	19.37:g.55417656G>A			B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Splice_Site	SNP	-	e2-1	ENST00000291890.4	37	c.35-1	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	.	14.60	2.585163	0.46110	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790	.	.	.	3.31	3.31	0.37934	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4363	0.44437	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCR1	60109468	0.987000	0.35691	0.781000	0.31783	0.838000	0.47535	1.882000	0.39648	2.171000	0.68590	0.650000	0.86243	.	NCR1	-	-		0.607	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	G		Intron	55417656	+1	no_errors	ENST00000291890	ensembl	human	known	70_37	splice_site	SNP	0.799	A
NLRP4	147945	genome.wustl.edu	37	19	56388409	56388409	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:56388409C>G	ENST00000301295.6	+	8	2995	c.2573C>G	c.(2572-2574)tCt>tGt	p.S858C	NLRP4_ENST00000346986.5_Missense_Mutation_p.S802C|NLRP4_ENST00000587891.1_Missense_Mutation_p.S783C	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	858					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACCTCGCCTCTGCTCTCATC	0.463																																																	0													187.0	183.0	184.0					19																	56388409		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2573C>G	19.37:g.56388409C>G	ENSP00000301295:p.Ser858Cys		Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S858C	ENST00000301295.6	37	c.2573	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078825	0.36662	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.43294	0.95;0.95	3.78	-4.32	0.03688	.	.	.	.	.	T	0.52403	0.1732	M	0.74647	2.275	0.09310	N	1	P;D;D	0.76494	0.732;0.999;0.999	B;D;P	0.66847	0.333;0.947;0.887	T	0.47724	-0.9095	9	0.52906	T	0.07	.	3.3943	0.07300	0.47:0.2223:0.0:0.3077	.	802;783;858	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	C	858;802	ENSP00000301295:S858C;ENSP00000344787:S802C	ENSP00000301295:S858C	S	+	2	0	NLRP4	61080221	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.413000	0.07123	-0.575000	0.05982	0.484000	0.47621	TCT	NLRP4	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.463	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	C	NM_134444		56388409	+1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	G
NSD1	64324	genome.wustl.edu	37	5	176637274	176637274	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637274G>C	ENST00000439151.2	+	5	1919	c.1874G>C	c.(1873-1875)gGa>gCa	p.G625A	NSD1_ENST00000361032.4_Missense_Mutation_p.G522A|NSD1_ENST00000347982.4_Missense_Mutation_p.G356A|NSD1_ENST00000354179.4_Missense_Mutation_p.G356A	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	625					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCTATATTGGAGCAGGTGAT	0.468			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													80.0	81.0	81.0					5																	176637274		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1874G>C	5.37:g.176637274G>C	ENSP00000395929:p.Gly625Ala		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.G625A	ENST00000439151.2	37	c.1874	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	9.305	1.053976	0.19907	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92348	-2.91;-2.91;-2.91;-3.02	5.42	4.55	0.56014	.	0.441905	0.21739	N	0.069857	T	0.82121	0.4968	N	0.14661	0.345	0.80722	D	1	B;B;B	0.20988	0.005;0.05;0.001	B;B;B	0.17722	0.008;0.019;0.004	T	0.74651	-0.3594	9	.	.	.	.	7.8647	0.29530	0.2224:0.0:0.7776:0.0	.	356;522;625	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	A	356;356;625;356;522	ENSP00000346111:G356A;ENSP00000395929:G625A;ENSP00000343209:G356A;ENSP00000354310:G522A	.	G	+	2	0	NSD1	176569880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.352000	0.34033	1.417000	0.47077	0.655000	0.94253	GGA	NSD1	-	NULL		0.468	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637274	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	C
NSD1	64324	genome.wustl.edu	37	5	176637327	176637327	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637327G>A	ENST00000439151.2	+	5	1972	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	NSD1_ENST00000361032.4_Missense_Mutation_p.D540N|NSD1_ENST00000347982.4_Missense_Mutation_p.D374N|NSD1_ENST00000354179.4_Missense_Mutation_p.D374N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	643					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TACCACTTCTGATGATGGAAG	0.443			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													113.0	109.0	110.0					5																	176637327		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1927G>A	5.37:g.176637327G>A	ENSP00000395929:p.Asp643Asn		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.D643N	ENST00000439151.2	37	c.1927	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016449	0.75161	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94966	-3.47;-3.47;-3.47;-3.57	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	D	0.94719	0.8296	L	0.27053	0.805	0.36644	D	0.877005	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.81914	0.995;0.961;0.989	D	0.94907	0.8061	9	.	.	.	.	16.2996	0.82804	0.0:0.0:1.0:0.0	.	374;540;643	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	N	374;374;643;374;540	ENSP00000346111:D374N;ENSP00000395929:D643N;ENSP00000343209:D374N;ENSP00000354310:D540N	.	D	+	1	0	NSD1	176569933	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.096000	0.71446	2.695000	0.91970	0.655000	0.94253	GAT	NSD1	-	NULL		0.443	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637327	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176637330	176637330	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637330G>A	ENST00000439151.2	+	5	1975	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N	NSD1_ENST00000361032.4_Missense_Mutation_p.D541N|NSD1_ENST00000347982.4_Missense_Mutation_p.D375N|NSD1_ENST00000354179.4_Missense_Mutation_p.D375N	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	644					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CACTTCTGATGATGGAAGCAG	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													113.0	109.0	110.0					5																	176637330		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1930G>A	5.37:g.176637330G>A	ENSP00000395929:p.Asp644Asn		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.D644N	ENST00000439151.2	37	c.1930	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852176	0.71719	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93712	-3.15;-3.16;-3.15;-3.27	5.42	5.42	0.78866	.	0.173050	0.41194	D	0.000925	D	0.90597	0.7052	N	0.24115	0.695	0.34399	D	0.695024	P;P;P	0.51933	0.873;0.949;0.799	P;B;B	0.49047	0.599;0.415;0.395	D	0.92116	0.5700	9	.	.	.	.	16.2996	0.82804	0.0:0.0:1.0:0.0	.	375;541;644	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	N	375;375;644;375;541	ENSP00000346111:D375N;ENSP00000395929:D644N;ENSP00000343209:D375N;ENSP00000354310:D541N	.	D	+	1	0	NSD1	176569936	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.769000	0.68865	2.695000	0.91970	0.655000	0.94253	GAT	NSD1	-	NULL		0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637330	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176637417	176637417	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637417G>C	ENST00000439151.2	+	5	2062	c.2017G>C	c.(2017-2019)Gag>Cag	p.E673Q	NSD1_ENST00000361032.4_Missense_Mutation_p.E570Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E404Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E404Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	673					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGATAGAACAGAGAACATGTT	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													99.0	98.0	99.0					5																	176637417		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2017G>C	5.37:g.176637417G>C	ENSP00000395929:p.Glu673Gln		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E673Q	ENST00000439151.2	37	c.2017	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278899	0.59758	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.94330	-3.3;-3.31;-3.3;-3.4	5.1	5.1	0.69264	.	0.000000	0.64402	D	0.000004	D	0.92251	0.7542	L	0.27053	0.805	0.26498	N	0.974812	D;D;D	0.63880	0.993;0.993;0.988	P;P;P	0.60789	0.879;0.879;0.76	D	0.85547	0.1219	9	.	.	.	.	11.2722	0.49147	0.0849:0.0:0.9151:0.0	.	404;570;673	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	404;404;673;404;570	ENSP00000346111:E404Q;ENSP00000395929:E673Q;ENSP00000343209:E404Q;ENSP00000354310:E570Q	.	E	+	1	0	NSD1	176570023	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.521000	0.53472	2.805000	0.96524	0.655000	0.94253	GAG	NSD1	-	NULL		0.393	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637417	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.993	C
NSD1	64324	genome.wustl.edu	37	5	176637601	176637601	+	Missense_Mutation	SNP	A	A	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637601A>G	ENST00000439151.2	+	5	2246	c.2201A>G	c.(2200-2202)aAg>aGg	p.K734R	NSD1_ENST00000361032.4_Missense_Mutation_p.K631R|NSD1_ENST00000347982.4_Missense_Mutation_p.K465R|NSD1_ENST00000354179.4_Missense_Mutation_p.K465R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	734					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTGATCTGAAGGCATCTACT	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													81.0	82.0	82.0					5																	176637601		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2201A>G	5.37:g.176637601A>G	ENSP00000395929:p.Lys734Arg		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.K734R	ENST00000439151.2	37	c.2201	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	A	3.925	-0.017388	0.07681	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.93659	-3.15;-3.15;-3.15;-3.26	5.1	-0.412	0.12367	.	0.599214	0.16590	N	0.207787	D	0.86314	0.5903	N	0.24115	0.695	0.09310	N	1	B;B;B	0.34015	0.277;0.435;0.181	B;B;B	0.33042	0.157;0.153;0.075	T	0.73493	-0.3965	9	.	.	.	.	14.0205	0.64550	0.3927:0.6073:0.0:0.0	.	465;631;734	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	R	465;465;734;465;631	ENSP00000346111:K465R;ENSP00000395929:K734R;ENSP00000343209:K465R;ENSP00000354310:K631R	.	K	+	2	0	NSD1	176570207	0.959000	0.32827	0.069000	0.20011	0.003000	0.03518	1.626000	0.37039	-0.126000	0.11682	-0.331000	0.08364	AAG	NSD1	-	NULL		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	A	NM_172349		176637601	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	0.137	G
NSD1	64324	genome.wustl.edu	37	5	176637740	176637740	+	Silent	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637740G>C	ENST00000439151.2	+	5	2385	c.2340G>C	c.(2338-2340)tcG>tcC	p.S780S	NSD1_ENST00000361032.4_Silent_p.S677S|NSD1_ENST00000347982.4_Silent_p.S511S|NSD1_ENST00000354179.4_Silent_p.S511S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	780					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATTACATTCGAAAAGCAAAC	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													64.0	64.0	64.0					5																	176637740		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2340G>C	5.37:g.176637740G>C			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S780	ENST00000439151.2	37	c.2340	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637740	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.035	C
NSD1	64324	genome.wustl.edu	37	5	176637930	176637930	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637930delG	ENST00000439151.2	+	5	2575	c.2530delG	c.(2530-2532)gagfs	p.E844fs	NSD1_ENST00000361032.4_Frame_Shift_Del_p.E741fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.E575fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.E575fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	844					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAATATGCATGAGAAAACCAG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													114.0	113.0	113.0					5																	176637930		2203	4300	6503	SO:0001589	frameshift_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2530delG	5.37:g.176637930delG	ENSP00000395929:p.Glu844fs		Q96PD8|Q96RN7	Frame_Shift_Del	DEL	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E844fs	ENST00000439151.2	37	c.2530	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637930	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
NSD1	64324	genome.wustl.edu	37	5	176637932	176637932	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637932G>A	ENST00000439151.2	+	5	2577	c.2532G>A	c.(2530-2532)gaG>gaA	p.E844E	NSD1_ENST00000361032.4_Silent_p.E741E|NSD1_ENST00000347982.4_Silent_p.E575E|NSD1_ENST00000354179.4_Silent_p.E575E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	844					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATATGCATGAGAAAACCAGGG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													116.0	115.0	115.0					5																	176637932		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2532G>A	5.37:g.176637932G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E844	ENST00000439151.2	37	c.2532	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637932	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176637992	176637992	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176637992G>A	ENST00000439151.2	+	5	2637	c.2592G>A	c.(2590-2592)ttG>ttA	p.L864L	NSD1_ENST00000361032.4_Silent_p.L761L|NSD1_ENST00000347982.4_Silent_p.L595L|NSD1_ENST00000354179.4_Silent_p.L595L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	864					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TATCCGAGTTGAAGGAACTCT	0.403			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													146.0	141.0	142.0					5																	176637992		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2592G>A	5.37:g.176637992G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L864	ENST00000439151.2	37	c.2592	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.403	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176637992	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176638298	176638298	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:176638298G>A	ENST00000439151.2	+	5	2943	c.2898G>A	c.(2896-2898)gaG>gaA	p.E966E	NSD1_ENST00000361032.4_Silent_p.E863E|NSD1_ENST00000347982.4_Silent_p.E697E|NSD1_ENST00000354179.4_Silent_p.E697E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	966					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACAATTCAGAGAAAAAGGGAG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													64.0	64.0	64.0					5																	176638298		2203	4300	6503	SO:0001819	synonymous_variant	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2898G>A	5.37:g.176638298G>A			Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E966	ENST00000439151.2	37	c.2898	CCDS4412.1	5																																																																																			NSD1	-	NULL		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176638298	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	silent	SNP	0.998	A
NUP98	4928	genome.wustl.edu	37	11	3781798	3781798	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:3781798G>A	ENST00000324932.7	-	10	1565	c.1145C>T	c.(1144-1146)tCa>tTa	p.S382L	NUP98_ENST00000397007.4_Missense_Mutation_p.S382L|NUP98_ENST00000355260.3_Missense_Mutation_p.S382L|NUP98_ENST00000359171.4_Missense_Mutation_p.S382L|NUP98_ENST00000397004.4_Missense_Mutation_p.S382L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	382	FG repeats 2.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGTACCAAATGAAGGTGCACT	0.363			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													87.0	87.0	87.0					11																	3781798		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1145C>T	11.37:g.3781798G>A	ENSP00000316032:p.Ser382Leu		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.S382L	ENST00000324932.7	37	c.1145	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.898575|4.898575	0.91962|0.91962	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000529379|ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.064498	.|0.64402	.|D	.|0.000005	T|T	0.53626|0.53626	0.1808|0.1808	N|N	0.11870|0.11870	0.19|0.19	0.58432|0.58432	D|D	0.999994|0.999994	.|B;D;P;P	.|0.61080	.|0.386;0.989;0.926;0.814	.|B;D;P;B	.|0.72625	.|0.124;0.978;0.518;0.38	T|T	0.50499|0.50499	-0.8821|-0.8821	5|9	.|0.18276	.|T	.|0.48	.|.	16.4842|16.4842	0.84180|0.84180	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;382;382;382	.|P52948-3;P52948-4;P52948-2;P52948-5	.|.;.;.;.	Y|L	31|382	.|.	.|ENSP00000316032:S382L	H|S	-|-	1|2	0|0	NUP98|NUP98	3738374|3738374	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.897000|8.897000	0.92532|0.92532	2.566000|2.566000	0.86566|0.86566	0.563000|0.563000	0.77884|0.77884	CAT|TCA	NUP98	-	NULL		0.363	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	G	NM_016320		3781798	-1	no_errors	ENST00000324932	ensembl	human	known	70_37	missense	SNP	1.000	A
OPN5	221391	genome.wustl.edu	37	6	47763151	47763151	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:47763151T>C	ENST00000371211.2	+	4	636	c.608T>C	c.(607-609)aTc>aCc	p.I203T	OPN5_ENST00000393699.2_Missense_Mutation_p.I203T|OPN5_ENST00000489301.2_Missense_Mutation_p.I203T|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	203					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ATCCTGAACATCCTCTTCTTC	0.552																																					Melanoma(28;740 973 10870 42660 45347)												0													117.0	103.0	107.0					6																	47763151		2203	4300	6503	SO:0001583	missense	221391			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.608T>C	6.37:g.47763151T>C	ENSP00000360255:p.Ile203Thr		A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Peropsin	p.I203T	ENST00000371211.2	37	c.608	CCDS4923.1	6	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371810	0.82573	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.38560	1.13;1.13;1.13	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.086001	0.85682	D	0.000000	T	0.29093	0.0723	L	0.39514	1.22	0.53688	D	0.999973	B	0.32283	0.362	B	0.36989	0.238	T	0.23762	-1.0179	10	0.87932	D	0	.	16.3351	0.83056	0.0:0.0:0.0:1.0	.	203	Q6U736	OPN5_HUMAN	T	203	ENSP00000426991:I203T;ENSP00000360255:I203T;ENSP00000377302:I203T	ENSP00000360255:I203T	I	+	2	0	OPN5	47871110	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.262000	0.75019	0.528000	0.53228	ATC	OPN5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.552	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	HGNC	protein_coding	OTTHUMT00000359451.1	T	NM_181744		47763151	+1	no_errors	ENST00000371211	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3C2A	5286	genome.wustl.edu	37	11	17191265	17191265	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:17191265G>A	ENST00000265970.7	-	1	23	c.24C>T	c.(22-24)agC>agT	p.S8S	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	8	Interaction with clathrin; sufficient to induce clathrin assemby.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CTTTAAATCCGCTGTTGCTAG	0.393																																																	0													88.0	88.0	88.0					11																	17191265		2200	4293	6493	SO:0001819	synonymous_variant	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.24C>T	11.37:g.17191265G>A			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S8	ENST00000265970.7	37	c.24	CCDS7824.1	11																																																																																			PIK3C2A	-	NULL		0.393	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17191265	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	silent	SNP	1.000	A
PINX1	54984	genome.wustl.edu	37	8	10623045	10623045	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr8:10623045C>T	ENST00000314787.3	-	7	972	c.853G>A	c.(853-855)Gag>Aag	p.E285K	CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000426190.2_3'UTR|PINX1_ENST00000519088.1_3'UTR	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	285	Telomerase inhibitory domain (TID).				mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TCCCGGCCCTCAGGCGGCTGC	0.572																																																	0													51.0	51.0	51.0					8																	10623045		1865	4099	5964	SO:0001583	missense	54984			AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.853G>A	8.37:g.10623045C>T	ENSP00000318966:p.Glu285Lys		B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E285K	ENST00000314787.3	37	c.853	CCDS47801.1	8	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194167	0.38707	.	.	ENSG00000254093	ENST00000314787	T	0.18016	2.24	5.8	2.6	0.31112	.	1.388660	0.04272	N	0.342286	T	0.16041	0.0386	L	0.36672	1.1	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.27191	-1.0081	10	0.59425	D	0.04	.	6.3998	0.21632	0.0:0.6609:0.1563:0.1829	.	285	Q96BK5	PINX1_HUMAN	K	285	ENSP00000318966:E285K	ENSP00000318966:E285K	E	-	1	0	PINX1	10660455	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.592000	0.23984	0.792000	0.33850	-0.136000	0.14681	GAG	PINX1	-	NULL		0.572	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINX1	HGNC	protein_coding	OTTHUMT00000375683.1	C	NM_017884		10623045	-1	no_errors	ENST00000314787	ensembl	human	known	70_37	missense	SNP	0.000	T
PKDCC	91461	genome.wustl.edu	37	2	42275816	42275816	+	Silent	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:42275816C>T	ENST00000294964.5	+	1	657	c.477C>T	c.(475-477)ggC>ggT	p.G159G		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic											breast(2)|kidney(1)|lung(5)	8						GCCTGCCCGGCGGTGCCGCGG	0.731																																																	0													5.0	7.0	6.0					2																	42275816		661	1562	2223	SO:0001819	synonymous_variant	91461				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.477C>T	2.37:g.42275816C>T				Missense_Mutation	SNP	NULL	p.A112V	ENST00000294964.5	37	c.335	CCDS33186.2	2																																																																																			PKDCC	-	NULL		0.731	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDCC	HGNC	protein_coding	OTTHUMT00000325745.3	C			42275816	+1	no_errors	ENST00000401498	ensembl	human	known	70_37	missense	SNP	1.000	T
PLCL2	23228	genome.wustl.edu	37	3	17052190	17052190	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:17052190G>A	ENST00000418129.2	+	2	1439	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	PLCL2_ENST00000396755.2_Missense_Mutation_p.R325Q|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000432376.1_Missense_Mutation_p.R325Q	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	451					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GATCAGTTCCGAGGTCCCTCC	0.413																																																	0													113.0	122.0	119.0					3																	17052190		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.974G>A	3.37:g.17052190G>A	ENSP00000409637:p.Arg325Gln		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R325Q	ENST00000418129.2	37	c.974	CCDS33713.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.130713|4.130713	0.77549|0.77549	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.63096	.|-0.02;-0.02;-0.02	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	.|0.061364	.|0.64402	.|D	.|0.000003	T|T	0.74329|0.74329	0.3702|0.3702	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.61080	.|0.989	.|P	.|0.57720	.|0.826	T|T	0.68644|0.68644	-0.5354|-0.5354	4|9	.|0.29301	.|T	.|0.29	.|.	20.4008|20.4008	0.98991|0.98991	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|451	.|Q9UPR0	.|PLCL2_HUMAN	K|Q	69|325;452;325;325	.|ENSP00000409637:R325Q;ENSP00000379979:R325Q;ENSP00000412836:R325Q	.|ENSP00000285094:R452Q	E|R	+|+	1|2	0|0	PLCL2|PLCL2	17027194|17027194	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	9.869000|9.869000	0.99810|0.99810	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|CGA	PLCL2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	G			17052190	+1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCZ1	89869	genome.wustl.edu	37	12	18836181	18836181	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:18836181C>T	ENST00000538330.1	-	11	1546	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	PLCZ1_ENST00000447925.2_Missense_Mutation_p.V605I|PLCZ1_ENST00000539875.1_Missense_Mutation_p.V414I|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000266505.7_Missense_Mutation_p.V607I|PLCZ1_ENST00000534932.1_Missense_Mutation_p.V88I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.V412I					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TGTTATCTGACGTACCAAACA	0.338																																																	0													116.0	103.0	108.0					12																	18836181		2203	4300	6503	SO:0001583	missense	89869			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1165G>A	12.37:g.18836181C>T	ENSP00000445880:p.Val389Ile			Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V607I	ENST00000538330.1	37	c.1819		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.695|4.695	0.129227|0.129227	0.08981|0.08981	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000536023|ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	.|T;T;T;T;T;T	.|0.13778	.|2.56;2.56;2.56;2.56;2.56;2.56	5.01|5.01	-7.45|-7.45	0.01374|0.01374	.|C2 calcium/lipid-binding domain, CaLB (1);	.|0.995174	.|0.08154	.|N	.|0.989463	T|T	0.03263|0.03263	0.0095|0.0095	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.42413|0.42413	-0.9453|-0.9453	5|10	.|0.24483	.|T	.|0.36	.|.	4.9148|4.9148	0.13840|0.13840	0.112:0.1914:0.1053:0.5912|0.112:0.1914:0.1053:0.5912	.|.	.|607;389	.|Q86YW0;Q8N7S5	.|PLCZ1_HUMAN;.	H|I	99|88;389;607;605;412;414	.|ENSP00000438826:V88I;ENSP00000445880:V389I;ENSP00000266505:V607I;ENSP00000402358:V605I;ENSP00000400504:V412I;ENSP00000445026:V414I	.|ENSP00000266505:V607I	R|V	-|-	2|1	0|0	PLCZ1|PLCZ1	18727448|18727448	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.101000|0.101000	0.19017|0.19017	-2.578000|-2.578000	0.00908|0.00908	-1.431000|-1.431000	0.01982|0.01982	-0.137000|-0.137000	0.14449|0.14449	CGT|GTC	PLCZ1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.338	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401666.3	C	NM_033123		18836181	-1	no_errors	ENST00000266505	ensembl	human	known	70_37	missense	SNP	0.000	T
TMEM256-PLSCR3	100529211	genome.wustl.edu	37	17	7296132	7296132	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:7296132C>T	ENST00000576362.1	-	5	732	c.575G>A	c.(574-576)tGt>tAt	p.C192Y	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.C216Y|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.C216Y|TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.C216Y|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.C216Y					TMEM256-PLSCR3 readthrough (NMD candidate)																		GTCTGTGCCACAGCCACAGGT	0.532																																																	0													152.0	168.0	163.0					17																	7296132		2061	4199	6260	SO:0001583	missense	57048					17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.575G>A	17.37:g.7296132C>T	ENSP00000460800:p.Cys192Tyr			Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.C216Y	ENST00000576362.1	37	c.647		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.866372|4.866372	0.91511|0.91511	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000535512;ENST00000324822|ENST00000380658	T;T|.	0.25085|.	1.82;1.82|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79488|0.79488	0.4454|0.4454	M|M	0.82433|0.82433	2.59|2.59	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.82398|0.82398	-0.0477|-0.0477	10|6	0.87932|0.87932	D|D	0|0	-9.8986|-9.8986	17.0686|17.0686	0.86567|0.86567	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	216;271|.	Q9NRY6;D3DTP7|.	PLS3_HUMAN;.|.	Y|M	216|216	ENSP00000438547:C216Y;ENSP00000316021:C216Y|.	ENSP00000316021:C216Y|ENSP00000370033:V216M	C|V	-|-	2|1	0|0	PLSCR3|PLSCR3	7236856|7236856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.137000|7.137000	0.77295|0.77295	2.634000|2.634000	0.89283|0.89283	0.591000|0.591000	0.81541|0.81541	TGT|GTG	PLSCR3	-	pfam_Scramblase,superfamily_Tubby_C-like		0.532	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	PLSCR3	HGNC	protein_coding	OTTHUMT00000440808.1	C			7296132	-1	no_errors	ENST00000324822	ensembl	human	known	70_37	missense	SNP	1.000	T
POLR2E	5434	genome.wustl.edu	37	19	1093795	1093795	+	Intron	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:1093795G>A	ENST00000215587.7	-	2	516				POLR2E_ENST00000585838.1_5'Flank|POLR2E_ENST00000586746.1_Intron			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACTGGGCAGAGAGACAAAT	0.622																																																	0																																										SO:0001627	intron_variant	5434				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.232+107C>T	19.37:g.1093795G>A			B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	superfamily_RNA_pol_Rpb5_N	p.L55	ENST00000215587.7	37	c.165	CCDS12056.1	19																																																																																			POLR2E	-	NULL		0.622	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2E	HGNC	protein_coding	OTTHUMT00000458044.1	G	NM_002695		1093795	-1	no_errors	ENST00000591767	ensembl	human	known	70_37	silent	SNP	0.005	A
POLR2E	5434	genome.wustl.edu	37	19	1093961	1093961	+	Silent	SNP	G	G	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:1093961G>T	ENST00000215587.7	-	2	457	c.174C>A	c.(172-174)ctC>ctA	p.L58L	POLR2E_ENST00000585838.1_5'Flank|POLR2E_ENST00000586746.1_Silent_p.L58L			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	58					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCACGGTGAGGTCCGTGC	0.637																																																	0													40.0	35.0	37.0					19																	1093961		2203	4300	6503	SO:0001819	synonymous_variant	5434				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"""RNA polymerase subunits"""	9192	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 23 kda polypeptide"""	180664	"""polymerase (RNA) II (DNA directed) polypeptide E (25kD)"""			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.174C>A	19.37:g.1093961G>T			B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Silent	SNP	pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su	p.L58	ENST00000215587.7	37	c.174	CCDS12056.1	19																																																																																			POLR2E	-	pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su		0.637	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2E	HGNC	protein_coding	OTTHUMT00000458044.1	G	NM_002695		1093961	-1	no_errors	ENST00000215587	ensembl	human	known	70_37	silent	SNP	0.986	T
POLR2L	5441	genome.wustl.edu	37	11	842418	842418	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:842418C>G	ENST00000322028.4	-	1	127	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	TSPAN4_ENST00000397411.2_5'Flank|TSPAN4_ENST00000397408.1_5'Flank|TSPAN4_ENST00000397397.2_5'Flank|TSPAN4_ENST00000397406.1_5'Flank|TSPAN4_ENST00000525201.1_5'Flank|TSPAN4_ENST00000409543.2_5'Flank|TSPAN4_ENST00000397396.1_5'Flank|TSPAN4_ENST00000397404.1_5'Flank	NM_021128.4	NP_066951.1	P62875	RPAB5_HUMAN	polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa	31					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			lung(1)	1		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;4.1e-25)|Epithelial(43;3.15e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		cctcaccccTCGGTGTACTCG	0.731																																																	0													33.0	28.0	30.0					11																	842418		2190	4294	6484	SO:0001583	missense	5441			U37690	CCDS7720.1	11p15	2013-01-21	2002-08-29		ENSG00000177700	ENSG00000177700		"""RNA polymerase subunits"""	9199	protein-coding gene	gene with protein product		601189	"""polymerase (RNA) II (DNA directed) polypeptide L (7.6kD)"""			8786124	Standard	NM_021128		Approved	RPB10beta, RBP10, RPABC5, RPB7.6, hRPB7.6, hsRPB10b	uc001lsc.3	P62875	OTTHUMG00000133316	ENST00000322028.4:c.91G>C	11.37:g.842418C>G	ENSP00000324124:p.Glu31Gln		P52436|Q6FHX3	Missense_Mutation	SNP	pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10	p.E31Q	ENST00000322028.4	37	c.91	CCDS7720.1	11	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215691	0.58452	.	.	ENSG00000177700	ENST00000322028	.	.	.	4.58	1.51	0.23008	Homeodomain-related (1);RNA polymerase subunit RPB10 (1);	0.185728	0.44902	D	0.000416	T	0.59878	0.2226	.	.	.	0.58432	D	0.999991	B	0.29886	0.26	B	0.40066	0.318	T	0.59516	-0.7440	8	0.62326	D	0.03	.	9.073	0.36504	0.0:0.6399:0.2807:0.0794	.	31	P62875	RPAB5_HUMAN	Q	31	.	ENSP00000324124:E31Q	E	-	1	0	POLR2L	832418	1.000000	0.71417	0.956000	0.39512	0.239000	0.25481	5.038000	0.64177	0.431000	0.26258	0.591000	0.81541	GAG	POLR2L	-	pfam_RNAP_N/Rpb10,superfamily_RNA_pol_su_RPB10,pirsf_RNAP_N/Rpb10		0.731	POLR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2L	HGNC	protein_coding	OTTHUMT00000257114.1	C	NM_021128		842418	-1	no_errors	ENST00000322028	ensembl	human	known	70_37	missense	SNP	0.989	G
PROSER1	80209	genome.wustl.edu	37	13	39608335	39608336	+	Splice_Site	INS	-	-	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr13:39608335_39608336insA	ENST00000352251.3	-	2	879		c.e2-2		PROSER1_ENST00000350125.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1									p.?(1)									CAAAACAGCCTAAAAAAAAAAA	0.327																																																	1	Unknown(1)	ovary(1)																																								SO:0001630	splice_region_variant	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.46-2->T	13.37:g.39608346_39608346dupA			A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Splice_Site	INS	-	e2-2	ENST00000352251.3	37	c.46-3_46-2	CCDS9368.2	13																																																																																			PROSER1	-	-		0.327	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	-	NM_025138	Intron	39608336	-1	no_errors	ENST00000352251	ensembl	human	novel	70_37	splice_site_ins	INS	1.000:0.899	A
PTPRK	5796	genome.wustl.edu	37	6	128643077	128643077	+	Intron	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr6:128643077G>C	ENST00000368215.3	-	3	495				PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000525459.1_Missense_Mutation_p.S201C|PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000524481.1_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000532331.1_Intron			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGGAGGCAAGAGGGCAATCT	0.413																																																	0																																										SO:0001627	intron_variant	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.495+106C>G	6.37:g.128643077G>C			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.S201C	ENST00000368215.3	37	c.602		6	.	.	.	.	.	.	.	.	.	.	G	1.206	-0.631186	0.03584	.	.	ENSG00000152894	ENST00000525459	T	0.12672	2.66	1.38	-0.82	0.10826	.	.	.	.	.	T	0.09992	0.0245	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.60117	0.869	T	0.09596	-1.0667	8	0.45353	T	0.12	.	4.3892	0.11332	0.3969:0.0:0.6031:0.0	.	201	E9PRW2	.	C	201	ENSP00000434116:S201C	ENSP00000434116:S201C	S	-	2	0	PTPRK	128684770	0.000000	0.05858	0.003000	0.11579	0.097000	0.18754	-2.405000	0.01045	-0.274000	0.09232	0.555000	0.69702	TCT	PTPRK	-	NULL		0.413	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	G			128643077	-1	no_errors	ENST00000525459	ensembl	human	putative	70_37	missense	SNP	0.004	C
PTPRN2	5799	genome.wustl.edu	37	7	157387953	157387953	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr7:157387953C>T	ENST00000389418.4	-	17	2482	c.2473G>A	c.(2473-2475)Gcc>Acc	p.A825T	PTPRN2_ENST00000389416.4_Missense_Mutation_p.A808T|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A796T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A848T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A787T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	825	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCACGGTGGCGGGCAGCGGT	0.502																																																	0													55.0	62.0	59.0					7																	157387953		2203	4300	6503	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2473G>A	7.37:g.157387953C>T	ENSP00000374069:p.Ala825Thr		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A848T	ENST00000389418.4	37	c.2542	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	6.145	0.395002	0.11638	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57	5.51	3.7	0.42460	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.211550	0.41194	D	0.000930	T	0.04272	0.0118	N	0.02111	-0.68	0.32355	N	0.557981	B;B;B;P;B	0.38504	0.352;0.405;0.352;0.634;0.405	B;B;B;B;B	0.31101	0.028;0.047;0.028;0.124;0.047	T	0.20706	-1.0267	10	0.36615	T	0.2	.	9.1138	0.36744	0.2616:0.67:0.0:0.0684	.	848;787;796;808;825	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	787;796;808;825;848	ENSP00000387114:A787T;ENSP00000374064:A796T;ENSP00000374067:A808T;ENSP00000374069:A825T;ENSP00000385464:A848T	ENSP00000374064:A796T	A	-	1	0	PTPRN2	157080714	0.725000	0.28048	0.022000	0.16811	0.075000	0.17131	1.358000	0.34102	0.686000	0.31488	0.655000	0.94253	GCC	PTPRN2	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.502	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	C			157387953	-1	no_errors	ENST00000404321	ensembl	human	known	70_37	missense	SNP	0.581	T
RAG1	5896	genome.wustl.edu	37	11	36595309	36595309	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:36595309C>T	ENST00000299440.5	+	2	567	c.455C>T	c.(454-456)cCg>cTg	p.P152L		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	152	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTTCCTGGCCGGACCTCATT	0.507									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													77.0	73.0	74.0					11																	36595309		2202	4298	6500	SO:0001583	missense	5896	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.455C>T	11.37:g.36595309C>T	ENSP00000299440:p.Pro152Leu		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.P152L	ENST00000299440.5	37	c.455	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798720	0.90538	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.73469	-0.75;-0.75	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:1.0:0.0:0.0	.	152	P15918	RAG1_HUMAN	L	152	ENSP00000434610:P152L;ENSP00000299440:P152L	ENSP00000299440:P152L	P	+	2	0	RAG1	36551885	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	CCG	RAG1	-	NULL		0.507	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	C	NM_000448		36595309	+1	no_errors	ENST00000299440	ensembl	human	known	70_37	missense	SNP	1.000	T
RAP1GAP2	23108	genome.wustl.edu	37	17	2808623	2808623	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:2808623G>A	ENST00000254695.8	+	3	216	c.126G>A	c.(124-126)cgG>cgA	p.R42R	RAP1GAP2_ENST00000542807.1_Silent_p.R42R|RAP1GAP2_ENST00000540393.2_Silent_p.R23R|RAP1GAP2_ENST00000366401.4_Silent_p.R42R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	42					negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCCAGACCGGCCGCTCTCCC	0.617																																																	0													30.0	35.0	34.0					17																	2808623		2002	4145	6147	SO:0001819	synonymous_variant	23108			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.126G>A	17.37:g.2808623G>A			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Silent	SNP	pfam_Rap_GAP,pfscan_Rap_GAP	p.R42	ENST00000254695.8	37	c.126	CCDS45573.1	17																																																																																			RAP1GAP2	-	NULL		0.617	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	G			2808623	+1	no_errors	ENST00000542807	ensembl	human	known	70_37	silent	SNP	0.999	A
RASA1	5921	genome.wustl.edu	37	5	86682684	86682684	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:86682684C>G	ENST00000274376.6	+	23	3453	c.2889C>G	c.(2887-2889)aaC>aaG	p.N963K	RASA1_ENST00000456692.2_Missense_Mutation_p.N786K|RASA1_ENST00000512763.1_Missense_Mutation_p.N796K|RASA1_ENST00000506290.1_Missense_Mutation_p.N797K	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	963					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCAAAAGCAACAAACATCGTA	0.338																																																	0													168.0	165.0	166.0					5																	86682684		2203	4299	6502	SO:0001583	missense	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2889C>G	5.37:g.86682684C>G	ENSP00000274376:p.Asn963Lys		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.N963K	ENST00000274376.6	37	c.2889	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880560	0.72294	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.95	2.2	0.27929	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.42832	0.1220	M	0.87269	2.87	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.989;0.994;0.994;0.997;0.995	T	0.37150	-0.9718	10	0.72032	D	0.01	.	9.5201	0.39129	0.0:0.7175:0.0:0.2825	.	797;796;797;786;963	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	K	963;786;796;797	ENSP00000274376:N963K;ENSP00000411221:N786K;ENSP00000422008:N796K;ENSP00000420905:N797K	ENSP00000274376:N963K	N	+	3	2	RASA1	86718440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.822000	0.27352	0.415000	0.25817	0.491000	0.48974	AAC	RASA1	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.338	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86682684	+1	no_errors	ENST00000274376	ensembl	human	known	70_37	missense	SNP	1.000	G
RRBP1	6238	genome.wustl.edu	37	20	17622492	17622492	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:17622492C>T	ENST00000377813.1	-	5	2437	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	RRBP1_ENST00000246043.4_Missense_Mutation_p.E712K|RRBP1_ENST00000377807.2_Missense_Mutation_p.E279K|RRBP1_ENST00000360807.4_Missense_Mutation_p.E279K|RRBP1_ENST00000455029.2_Missense_Mutation_p.E53K			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	712					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.L275_V285delLLATEQEDAAV(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCTTCCTGTTCTGTGGCCAGC	0.547																																																	1	Deletion - In frame(1)	breast(1)											146.0	129.0	134.0					20																	17622492		2203	4300	6503	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.2134G>A	20.37:g.17622492C>T	ENSP00000367044:p.Glu712Lys		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.E712K	ENST00000377813.1	37	c.2134		20	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672077	0.88348	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.41400	2.15;2.15;2.15;2.15;1.0	6.08	6.08	0.98989	.	0.000000	0.38005	N	0.001846	T	0.62270	0.2414	M	0.77313	2.365	0.80722	D	1	D	0.69078	0.997	P	0.62560	0.904	T	0.59279	-0.7484	10	0.35671	T	0.21	-43.6607	15.166	0.72825	0.0:0.8596:0.1404:0.0	.	279	Q9P2E9-3	.	K	279;712;279;712;53	ENSP00000354045:E279K;ENSP00000367044:E712K;ENSP00000367038:E279K;ENSP00000246043:E712K;ENSP00000401206:E53K	ENSP00000246043:E712K	E	-	1	0	RRBP1	17570492	1.000000	0.71417	0.997000	0.53966	0.634000	0.38068	5.561000	0.67339	2.894000	0.99253	0.655000	0.94253	GAA	RRBP1	-	NULL		0.547	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	C	NM_001042576		17622492	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	missense	SNP	1.000	T
RGS19	10287	genome.wustl.edu	37	20	62708283	62708283	+	5'UTR	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:62708283C>T	ENST00000395042.1	-	0	223				RGS19_ENST00000332298.5_5'UTR|RGS19_ENST00000493165.1_5'UTR	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19						autophagy (GO:0006914)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	brush border (GO:0005903)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TACCAGCTCTCAGACCCTCAC	0.657																																																	0													15.0	17.0	16.0					20																	62708283		2188	4292	6480	SO:0001623	5_prime_UTR_variant	10287			X91809	CCDS13555.1	20q13.33	2007-08-14	2007-08-14		ENSG00000171700	ENSG00000171700		"""Regulators of G-protein signaling"""	13735	protein-coding gene	gene with protein product		605071	"""regulator of G-protein signalling 19"""			8524874	Standard	XM_005260183		Approved	GAIP, RGSGAIP	uc002yib.3	P49795	OTTHUMG00000033024	ENST00000395042.1:c.-44G>A	20.37:g.62708283C>T			A8K216|E1P5G9|Q53XN0|Q8TD60	RNA	SNP	-	NULL	ENST00000395042.1	37	NULL	CCDS13555.1	20																																																																																			RGS19	-	-		0.657	RGS19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS19	HGNC	protein_coding	OTTHUMT00000080273.1	C	NM_005873		62708283	-1	no_errors	ENST00000493165	ensembl	human	known	70_37	rna	SNP	0.027	T
RTF1	23168	genome.wustl.edu	37	15	41750013	41750014	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:41750013_41750014GA>AT	ENST00000389629.4	+	4	613_614	c.601_602GA>AT	c.(601-603)GAg>ATg	p.E201M		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	201	Glu-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACAGATGACAGAGAAAGAGAGA	0.515																																																	0																																										SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	Exception_encountered	15.37:g.41750013_41750014delinsAT	ENSP00000374280:p.Glu201Met		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.E201K|p.E201V	ENST00000389629.4	37	c.601|c.602	CCDS32200.2	15																																																																																			RTF1	-	NULL		0.515	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G|A	NM_015138		41750013|41750014	+1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	1.000	A|T
RTF1	23168	genome.wustl.edu	37	15	41750066	41750066	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:41750066G>C	ENST00000389629.4	+	4	666	c.654G>C	c.(652-654)ttG>ttC	p.L218F		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	218	Glu-rich.|Lys-rich.				DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGGAGGTGTTGAAAAGAAGGT	0.512																																																	0													140.0	137.0	138.0					15																	41750066		2203	4300	6503	SO:0001583	missense	23168			D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.654G>C	15.37:g.41750066G>C	ENSP00000374280:p.Leu218Phe		Q96BX6	Missense_Mutation	SNP	pfam_Plus-3,smart_Plus3-dom_subgr	p.L218F	ENST00000389629.4	37	c.654	CCDS32200.2	15	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430851	0.62844	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.67	1.26	0.21427	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.64404	1.975	0.54753	D	0.999983	D	0.71674	0.998	D	0.83275	0.996	T	0.58567	-0.7614	9	0.21014	T	0.42	-7.3839	1.1398	0.01762	0.2677:0.262:0.3325:0.1378	.	218	Q92541	RTF1_HUMAN	F	218	.	ENSP00000374280:L218F	L	+	3	2	RTF1	39537358	0.996000	0.38824	1.000000	0.80357	0.983000	0.72400	0.395000	0.20850	0.781000	0.33589	-0.136000	0.14681	TTG	RTF1	-	NULL		0.512	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTF1	HGNC	protein_coding	OTTHUMT00000258111.1	G	NM_015138		41750066	+1	no_errors	ENST00000389629	ensembl	human	known	70_37	missense	SNP	0.993	C
RUSC2	9853	genome.wustl.edu	37	9	35548154	35548154	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:35548154G>A	ENST00000455600.1	+	2	2205	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	546						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCTTTGCCGAGCTGGCCAA	0.637																																																	0													16.0	19.0	18.0					9																	35548154		2199	4283	6482	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.1636G>A	9.37:g.35548154G>A	ENSP00000393922:p.Glu546Lys		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain	p.E546K	ENST00000455600.1	37	c.1636	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183989	0.78677	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.42513	0.97;0.97	5.86	4.95	0.65309	.	0.230112	0.37304	N	0.002156	T	0.47395	0.1443	L	0.34521	1.04	0.45330	D	0.998323	D	0.76494	0.999	P	0.55345	0.774	T	0.49844	-0.8896	10	0.62326	D	0.03	-16.1901	15.3486	0.74363	0.0:0.0:0.8595:0.1405	.	546	Q8N2Y8	RUSC2_HUMAN	K	546	ENSP00000355177:E546K;ENSP00000393922:E546K	ENSP00000355177:E546K	E	+	1	0	RUSC2	35538154	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.258000	0.95555	1.442000	0.47568	0.655000	0.94253	GAG	RUSC2	-	NULL		0.637	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35548154	+1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	1.000	A
SCN1A	6323	genome.wustl.edu	37	2	166848733	166848733	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:166848733G>A	ENST00000303395.4	-	26	5051	c.5052C>T	c.(5050-5052)taC>taT	p.Y1684Y	SCN1A_ENST00000423058.2_Silent_p.Y1684Y|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.Y1656Y|SCN1A_ENST00000375405.3_Silent_p.Y1673Y			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1684					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAGATGGCGTAGATGAACA	0.473																																																	0													181.0	166.0	171.0					2																	166848733		2203	4300	6503	SO:0001819	synonymous_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.5052C>T	2.37:g.166848733G>A			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.Y1684	ENST00000303395.4	37	c.5052	CCDS54413.1	2																																																																																			SCN1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.473	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	G	NM_006920		166848733	-1	no_errors	ENST00000303395	ensembl	human	known	70_37	silent	SNP	0.934	A
SIGLEC14	100049587	genome.wustl.edu	37	19	52149143	52149143	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:52149143G>T	ENST00000360844.6	-	3	633	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	198	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GTGAGGGTGAGCTCCGAGGAG	0.637																																																	0													21.0	23.0	23.0					19																	52149143		2051	4170	6221	SO:0001583	missense	100049587			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.592C>A	19.37:g.52149143G>T	ENSP00000354090:p.Leu198Ile		Q6UXG0	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L198I	ENST00000360844.6	37	c.592	CCDS42604.1	19	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145636	0.37923	.	.	ENSG00000254415	ENST00000360844	T	0.39229	1.09	3.09	-4.73	0.03259	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.753526	0.10734	N	0.640319	T	0.47967	0.1474	L	0.58925	1.835	0.09310	N	1	P	0.37207	0.587	P	0.56398	0.797	T	0.55535	-0.8126	10	0.52906	T	0.07	.	3.4018	0.07327	0.1149:0.484:0.2379:0.1632	.	198	Q08ET2	SIG14_HUMAN	I	198	ENSP00000354090:L198I	ENSP00000354090:L198I	L	-	1	0	SIGLEC14	56840955	0.004000	0.15560	0.001000	0.08648	0.011000	0.07611	0.043000	0.13971	-0.492000	0.06687	-1.620000	0.00792	CTC	SIGLEC14	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like		0.637	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	HGNC	protein_coding	OTTHUMT00000466899.2	G	NM_001098612		52149143	-1	no_errors	ENST00000360844	ensembl	human	known	70_37	missense	SNP	0.001	T
SGSH	6448	genome.wustl.edu	37	17	78196986	78196986	+	5'Flank	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:78196986C>G	ENST00000326317.6	-	0	0				SLC26A11_ENST00000546047.2_Intron|SGSH_ENST00000570923.1_5'Flank|SGSH_ENST00000572208.1_5'Flank|SLC26A11_ENST00000361193.3_Intron|SLC26A11_ENST00000411502.3_Intron|SGSH_ENST00000534910.1_5'Flank|SLC26A11_ENST00000572725.1_Intron|SLC26A11_ENST00000571602.1_3'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase						carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGCTCACATCTCCCCTCATC	0.587																																																	0																																										SO:0001631	upstream_gene_variant	284129			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688			17.37:g.78196986C>G	Exception_encountered		A8K5E2	RNA	SNP	-	NULL	ENST00000326317.6	37	NULL	CCDS11770.1	17																																																																																			SLC26A11	-	-		0.587	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000437695.1	C	NM_000199		78196986	+1	no_errors	ENST00000571602	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC45A1	50651	genome.wustl.edu	37	1	8390366	8390366	+	Silent	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:8390366C>T	ENST00000471889.1	+	5	1198	c.813C>T	c.(811-813)ctC>ctT	p.L271L	SLC45A1_ENST00000377479.2_Silent_p.L305L|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.L271L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	271					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TCATTTACCTCTTCACTGCGG	0.637																																																	0													70.0	72.0	71.0					1																	8390366		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.813C>T	1.37:g.8390366C>T			Q5VY46|Q5VY49	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L305	ENST00000471889.1	37	c.915	CCDS30577.1	1																																																																																			SLC45A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.637	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	C			8390366	+1	no_errors	ENST00000377479	ensembl	human	known	70_37	silent	SNP	1.000	T
SMR3A	26952	genome.wustl.edu	37	4	71232574	71232574	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr4:71232574C>G	ENST00000226460.4	+	3	364	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	90	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				AGGGAGAATTCAATCACACTC	0.537																																																	0													178.0	158.0	165.0					4																	71232574		2203	4300	6503	SO:0001583	missense	26952			D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.268C>G	4.37:g.71232574C>G	ENSP00000226460:p.Gln90Glu			Missense_Mutation	SNP	NULL	p.Q90E	ENST00000226460.4	37	c.268	CCDS34000.1	4	.	.	.	.	.	.	.	.	.	.	C	6.326	0.428247	0.11987	.	.	ENSG00000109208	ENST00000226460	T	0.28454	1.61	3.25	3.25	0.37280	.	.	.	.	.	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.15484	0.013	T	0.15752	-1.0426	9	0.12766	T	0.61	.	10.2401	0.43308	0.0:1.0:0.0:0.0	.	90	Q99954	SMR3A_HUMAN	E	90	ENSP00000226460:Q90E	ENSP00000226460:Q90E	Q	+	1	0	SMR3A	71267163	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.409000	0.21082	2.115000	0.64714	0.561000	0.74099	CAA	SMR3A	-	NULL		0.537	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMR3A	HGNC	protein_coding	OTTHUMT00000362574.1	C	NM_012390		71232574	+1	no_errors	ENST00000226460	ensembl	human	known	70_37	missense	SNP	0.003	G
SNRK	54861	genome.wustl.edu	37	3	43388892	43388892	+	Missense_Mutation	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:43388892C>G	ENST00000296088.7	+	7	1445	c.1141C>G	c.(1141-1143)Cct>Gct	p.P381A	SNRK-AS1_ENST00000422681.1_RNA|SNRK_ENST00000454177.1_Missense_Mutation_p.P381A|SNRK_ENST00000437827.1_Missense_Mutation_p.P175A|SNRK_ENST00000429705.2_Missense_Mutation_p.P381A|RP11-188P20.3_ENST00000607513.1_RNA	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CACGGCCACTCCTTTGTCCCA	0.522																																																	0													80.0	87.0	85.0					3																	43388892		2029	4189	6218	SO:0001583	missense	54861			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1141C>G	3.37:g.43388892C>G	ENSP00000296088:p.Pro381Ala			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P381A	ENST00000296088.7	37	c.1141	CCDS43075.1	3	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657907	0.29425	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.62941	-0.01;-0.01;-0.01;2.87	5.07	5.07	0.68467	.	0.056766	0.64402	D	0.000001	T	0.44286	0.1286	N	0.08118	0	0.46149	D	0.998893	B	0.12630	0.006	B	0.09377	0.004	T	0.28522	-1.0041	10	0.25106	T	0.35	.	18.8287	0.92128	0.0:1.0:0.0:0.0	.	381	Q9NRH2	SNRK_HUMAN	A	381;381;381;175	ENSP00000401246:P381A;ENSP00000411375:P381A;ENSP00000296088:P381A;ENSP00000409516:P175A	ENSP00000296088:P381A	P	+	1	0	SNRK	43363896	1.000000	0.71417	0.188000	0.23233	0.660000	0.38997	4.520000	0.60524	2.535000	0.85469	0.655000	0.94253	CCT	SNRK	-	NULL		0.522	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRK	HGNC	protein_coding	OTTHUMT00000344325.1	C	NM_017719		43388892	+1	no_errors	ENST00000296088	ensembl	human	known	70_37	missense	SNP	0.982	G
SPTBN4	57731	genome.wustl.edu	37	19	41071420	41071420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:41071420G>T	ENST00000352632.3	+	28	6093	c.6007G>T	c.(6007-6009)Gag>Tag	p.E2003*	SPTBN4_ENST00000392025.1_Nonsense_Mutation_p.E746*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.E2003*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.E2003*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2003					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTGCCAGGAGCTGGGGCG	0.637																																																	0													57.0	56.0	56.0					19																	41071420		2203	4300	6503	SO:0001587	stop_gained	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.6007G>T	19.37:g.41071420G>T	ENSP00000263373:p.Glu2003*		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Nonsense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E2003*	ENST00000352632.3	37	c.6007	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	46	12.882067	0.99703	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025	.	.	.	4.62	4.62	0.57501	.	0.203909	0.30584	U	0.009308	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	16.4554	0.84011	0.0:0.0:1.0:0.0	.	.	.	.	X	2003;2003;2003;746	.	ENSP00000340345:E2003X	E	+	1	0	SPTBN4	45763260	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.555000	0.98123	2.429000	0.82318	0.549000	0.68633	GAG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.637	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	G			41071420	+1	no_errors	ENST00000352632	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SPTLC1	10558	genome.wustl.edu	37	9	94821546	94821546	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:94821546G>A	ENST00000262554.2	-	7	610	c.605C>T	c.(604-606)tCc>tTc	p.S202F	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	202					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GTCACTACGGGATGCCTGTAA	0.398																																																	0													104.0	92.0	96.0					9																	94821546		2203	4300	6503	SO:0001583	missense	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.605C>T	9.37:g.94821546G>A	ENSP00000262554:p.Ser202Phe		A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.S202F	ENST00000262554.2	37	c.605	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250363	0.80024	.	.	ENSG00000090054	ENST00000262554	D	0.95918	-3.85	5.41	5.41	0.78517	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.121832	0.64402	D	0.000019	D	0.98582	0.9526	H	0.97516	4.02	0.80722	D	1	P;P;P	0.46142	0.797;0.593;0.873	P;P;P	0.60117	0.867;0.548;0.869	D	0.99170	1.0864	10	0.87932	D	0	-15.8093	19.3941	0.94598	0.0:0.0:1.0:0.0	.	202;197;202	Q6NUL7;Q59EQ4;O15269	.;.;SPTC1_HUMAN	F	202	ENSP00000262554:S202F	ENSP00000262554:S202F	S	-	2	0	SPTLC1	93861367	1.000000	0.71417	0.992000	0.48379	0.979000	0.70002	9.383000	0.97214	2.822000	0.97130	0.557000	0.71058	TCC	SPTLC1	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.398	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	HGNC	protein_coding	OTTHUMT00000055553.1	G	NM_006415		94821546	-1	no_errors	ENST00000262554	ensembl	human	known	70_37	missense	SNP	1.000	A
SULT6B1	391365	genome.wustl.edu	37	2	37398707	37398707	+	Silent	SNP	A	A	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:37398707A>T	ENST00000535679.1	-	6	650	c.651T>A	c.(649-651)atT>atA	p.I217I	SULT6B1_ENST00000379149.2_Silent_p.I113I|SULT6B1_ENST00000407963.1_Silent_p.I179I|SULT6B1_ENST00000260637.3_Silent_p.I179I			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	217						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				AGAACTCAGCAATCTGTTTTA	0.403																																																	0													91.0	91.0	91.0					2																	37398707		2203	4300	6503	SO:0001819	synonymous_variant	391365			AY289770, AY289774	CCDS33182.1	2p22.2	2007-07-26			ENSG00000138068	ENSG00000138068		"""Sulfotransferases, cytosolic"""	33433	protein-coding gene	gene with protein product						14676822	Standard	XM_005264307		Approved		uc002rpu.3	Q6IMI4	OTTHUMG00000152160	ENST00000535679.1:c.651T>A	2.37:g.37398707A>T			B2RTS7	Silent	SNP	pfam_Sulfotransferase_dom	p.I217	ENST00000535679.1	37	c.651		2																																																																																			SULT6B1	-	pfam_Sulfotransferase_dom		0.403	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	SULT6B1	HGNC	protein_coding		A	NM_001032377		37398707	-1	no_errors	ENST00000535679	ensembl	human	known	70_37	silent	SNP	0.002	T
SYTL1	84958	genome.wustl.edu	37	1	27679598	27679598	+	Intron	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:27679598C>T	ENST00000543823.1	+	13	1805				SYTL1_ENST00000318074.5_Intron|SYTL1_ENST00000490170.1_Intron			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTTAAAGCCAGGAGACCTG	0.582																																																	0																																										SO:0001627	intron_variant	84958			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1344-176C>T	1.37:g.27679598C>T			Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	RNA	SNP	-	NULL	ENST00000543823.1	37	NULL	CCDS53286.1	1																																																																																			SYTL1	-	-		0.582	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		C	NM_032872		27679598	+1	no_errors	ENST00000475199	ensembl	human	known	70_37	rna	SNP	0.001	T
TANC2	26115	genome.wustl.edu	37	17	61432444	61432444	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:61432444G>A	ENST00000424789.2	+	12	2057	c.2053G>A	c.(2053-2055)Gag>Aag	p.E685K	TANC2_ENST00000389520.4_Missense_Mutation_p.E685K	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	685					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCGCTCTCAGAGGTTTATTT	0.453																																																	0													109.0	103.0	105.0					17																	61432444		1889	4122	6011	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2053G>A	17.37:g.61432444G>A	ENSP00000387593:p.Glu685Lys		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E685K	ENST00000424789.2	37	c.2053	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	29.6	5.017752	0.93404	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68903	-0.36;-0.36	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.82323	0.5012	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.91635	0.969;0.999;0.998	T	0.83068	-0.0144	10	0.72032	D	0.01	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	685;595;685	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	K	685	ENSP00000374171:E685K;ENSP00000387593:E685K	ENSP00000374171:E685K	E	+	1	0	TANC2	58786176	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.827000	0.99397	2.709000	0.92574	0.655000	0.94253	GAG	TANC2	-	NULL		0.453	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61432444	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	A
TENM4	26011	genome.wustl.edu	37	11	78381249	78381249	+	Silent	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr11:78381249C>T	ENST00000278550.7	-	32	6603	c.6141G>A	c.(6139-6141)caG>caA	p.Q2047Q		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2047					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGCCCTCATTCTGTAGGTTGA	0.542																																																	0													77.0	87.0	83.0					11																	78381249		2101	4191	6292	SO:0001819	synonymous_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6141G>A	11.37:g.78381249C>T			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.Q2047	ENST00000278550.7	37	c.6141	CCDS44688.1	11																																																																																			TENM4	-	NULL		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78381249	-1	no_errors	ENST00000278550	ensembl	human	known	70_37	silent	SNP	1.000	T
THADA	63892	genome.wustl.edu	37	2	43801659	43801659	+	Silent	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:43801659C>T	ENST00000405006.4	-	11	1896	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	THADA_ENST00000403856.1_Silent_p.E515E|THADA_ENST00000415080.2_Silent_p.E225E|THADA_ENST00000330266.7_Silent_p.E225E|THADA_ENST00000405975.2_Silent_p.E515E|THADA_ENST00000404790.1_Silent_p.E515E|THADA_ENST00000402360.2_Silent_p.E515E	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	515										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCAAGAACTCTCAGCAGTCT	0.398																																																	0													61.0	61.0	61.0					2																	43801659		1853	4097	5950	SO:0001819	synonymous_variant	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1545G>A	2.37:g.43801659C>T			A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.E515	ENST00000405006.4	37	c.1545	CCDS46268.1	2																																																																																			THADA	-	superfamily_ARM-type_fold		0.398	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43801659	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	silent	SNP	0.000	T
TLK2	11011	genome.wustl.edu	37	17	60683572	60683572	+	Silent	SNP	G	G	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:60683572G>T	ENST00000326270.9	+	21	2275	c.2007G>T	c.(2005-2007)gtG>gtT	p.V669V	TLK2_ENST00000542523.1_Silent_p.V615V|TLK2_ENST00000582809.1_Silent_p.V498V|TLK2_ENST00000346027.5_Silent_p.V647V|TLK2_ENST00000343388.7_Silent_p.V615V	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	669	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CGGTGGGTGTGATCTTCTATC	0.428																																																	0													138.0	122.0	127.0					17																	60683572		2203	4300	6503	SO:0001819	synonymous_variant	11011			AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.2007G>T	17.37:g.60683572G>T			D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V669	ENST00000326270.9	37	c.2007		17																																																																																			TLK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	TLK2-004	KNOWN	basic	protein_coding	TLK2	HGNC	protein_coding	OTTHUMT00000445140.1	G	NM_006852		60683572	+1	no_errors	ENST00000326270	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM87A	25963	genome.wustl.edu	37	15	42531874	42531874	+	Silent	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:42531874C>T	ENST00000389834.4	-	8	942	c.678G>A	c.(676-678)ttG>ttA	p.L226L	TMEM87A_ENST00000448392.1_Silent_p.L165L	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	226						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TTACAATCATCAAGGGATAGT	0.363																																																	0													129.0	129.0	129.0					15																	42531874		2203	4299	6502	SO:0001819	synonymous_variant	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.678G>A	15.37:g.42531874C>T			Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Silent	SNP	pfam_TM_rcpt_euk	p.L226	ENST00000389834.4	37	c.678	CCDS32205.1	15																																																																																			TMEM87A	-	pfam_TM_rcpt_euk		0.363	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	C	NM_015497		42531874	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	silent	SNP	0.996	T
TMEM87A	25963	genome.wustl.edu	37	15	42531888	42531888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:42531888C>A	ENST00000389834.4	-	8	928	c.664G>T	c.(664-666)Gaa>Taa	p.E222*	TMEM87A_ENST00000448392.1_Nonsense_Mutation_p.E161*	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	222						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GGATAGTCTTCAAGTGTGAGG	0.358																																																	0													133.0	135.0	134.0					15																	42531888		2203	4299	6502	SO:0001587	stop_gained	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.664G>T	15.37:g.42531888C>A	ENSP00000374484:p.Glu222*		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Nonsense_Mutation	SNP	pfam_TM_rcpt_euk	p.E222*	ENST00000389834.4	37	c.664	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725803	0.69074	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.13	5.13	0.70059	.	0.054685	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-19.1646	18.7724	0.91898	0.0:1.0:0.0:0.0	.	.	.	.	X	222;161;198	.	ENSP00000374484:E222X	E	-	1	0	TMEM87A	40319180	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.622000	0.46427	2.649000	0.89929	0.591000	0.81541	GAA	TMEM87A	-	pfam_TM_rcpt_euk		0.358	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	C	NM_015497		42531888	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TMEM87A	25963	genome.wustl.edu	37	15	42556395	42556395	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:42556395C>T	ENST00000389834.4	-	4	562	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000448392.1_Missense_Mutation_p.E39K|TMEM87A_ENST00000307216.6_Missense_Mutation_p.E100K	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	100						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AACTCTACTTCTTCTGCCTGG	0.358																																																	0													119.0	118.0	118.0					15																	42556395		2203	4299	6502	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.298G>A	15.37:g.42556395C>T	ENSP00000374484:p.Glu100Lys		Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.E100K	ENST00000389834.4	37	c.298	CCDS32205.1	15	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858729	0.32884	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305;ENST00000307216	.	.	.	5.12	4.17	0.49024	.	0.572250	0.18746	N	0.132318	T	0.27241	0.0668	N	0.19112	0.55	0.27785	N	0.943001	B;B;B	0.33171	0.001;0.002;0.4	B;B;B	0.31101	0.002;0.006;0.124	T	0.21075	-1.0256	9	0.62326	D	0.03	-6.52	10.6863	0.45846	0.0:0.7911:0.2089:0.0	.	100;39;100	Q8NBN3;Q8NBN3-3;Q8NBN3-2	TM87A_HUMAN;.;.	K	100;39;76;100	.	ENSP00000305894:E100K	E	-	1	0	TMEM87A	40343687	0.593000	0.26840	0.963000	0.40424	0.180000	0.23129	0.764000	0.26532	2.646000	0.89796	0.655000	0.94253	GAA	TMEM87A	-	NULL		0.358	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TMEM87A	HGNC	protein_coding	OTTHUMT00000420482.2	C	NM_015497		42556395	-1	no_errors	ENST00000389834	ensembl	human	known	70_37	missense	SNP	0.989	T
TNS1	7145	genome.wustl.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																																	0																																										SO:0001651	inframe_deletion	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del		Q4ZG71|Q6IPI5	In_Frame_Del	DEL	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q659in_frame_del	ENST00000171887.4	37	c.1978_1976	CCDS2407.1	2																																																																																			TNS1	-	NULL		0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	GCT	NM_022648		218712889	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:0.994	-
TRPM2	7226	genome.wustl.edu	37	21	45837900	45837900	+	Silent	SNP	C	C	T	rs372801595		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr21:45837900C>T	ENST00000397928.1	+	21	3682	c.3237C>T	c.(3235-3237)gcC>gcT	p.A1079A	TRPM2_ENST00000498430.1_3'UTR|AP001065.2_ENST00000456880.1_RNA|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Silent_p.A1079A|TRPM2_ENST00000300482.5_Silent_p.A1079A|TRPM2_ENST00000300481.9_Silent_p.A1059A	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1079					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						gccgccccgccgcgccgcccc	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		17582	0.0		0.0	False		,,,				2504	0.001																0													52.0	52.0	52.0					21																	45837900		2203	4300	6503	SO:0001819	synonymous_variant	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3237C>T	21.37:g.45837900C>T			D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like	p.A1079	ENST00000397928.1	37	c.3237	CCDS13710.1	21																																																																																			TRPM2	-	NULL		0.622	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM2	HGNC	protein_coding	OTTHUMT00000098086.1	C	NM_003307		45837900	+1	no_errors	ENST00000300482	ensembl	human	known	70_37	silent	SNP	0.107	T
TRPM3	80036	genome.wustl.edu	37	9	73296452	73296452	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr9:73296452C>T	ENST00000377111.2	-	9	1558	c.1315G>A	c.(1315-1317)Gat>Aat	p.D439N	TRPM3_ENST00000408909.2_Missense_Mutation_p.D286N|TRPM3_ENST00000377110.3_Missense_Mutation_p.D439N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D286N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D441N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D466N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D311N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D311N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D311N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D286N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D286N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D311N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	464					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATAGCCAAATCAATGTCCTGG	0.383																																																	0													181.0	176.0	177.0					9																	73296452		2203	4300	6503	SO:0001583	missense	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1315G>A	9.37:g.73296452C>T	ENSP00000366315:p.Asp439Asn		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.D466N	ENST00000377111.2	37	c.1396		9	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863578	0.91511	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	M	0.88377	2.95	0.46678	D	0.999155	D;D;D;P;D;P;B;D;P	0.76494	0.987;0.993;0.992;0.546;0.994;0.756;0.376;0.999;0.643	P;D;D;B;P;P;B;D;B	0.70016	0.829;0.95;0.926;0.148;0.78;0.78;0.179;0.967;0.387	T	0.68550	-0.5379	10	0.87932	D	0	-21.4057	17.2915	0.87158	0.0:1.0:0.0:0.0	.	464;439;439;439;441;311;286;439;286	Q9HCF6;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	TRPM3_HUMAN;.;.;.;.;.;.;.;.	N	439;439;311;311;286;441;286;286;311;311;466	ENSP00000366315:D439N;ENSP00000366314:D439N;ENSP00000366310:D311N;ENSP00000354066:D311N;ENSP00000366309:D286N;ENSP00000350140:D441N;ENSP00000386127:D286N;ENSP00000379581:D286N;ENSP00000379587:D311N;ENSP00000350791:D311N;ENSP00000389542:D466N	ENSP00000350140:D441N	D	-	1	0	TRPM3	72486272	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.792000	0.69052	2.817000	0.96982	0.563000	0.77884	GAT	TRPM3	-	NULL		0.383	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214157.5	C	NM_206945		73296452	-1	no_errors	ENST00000423814	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBGCP4	27229	genome.wustl.edu	37	15	43695887	43695887	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:43695887C>T	ENST00000260383.7	+	16	1995	c.1741C>T	c.(1741-1743)Cac>Tac	p.H581Y	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.H580Y|TUBGCP4_ENST00000399460.3_3'UTR			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	581					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTAGGTGTTTCACTGCCTGAA	0.473																																																	0													88.0	85.0	86.0					15																	43695887		1925	4138	6063	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1741C>T	15.37:g.43695887C>T	ENSP00000260383:p.His581Tyr		B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.H581Y	ENST00000260383.7	37	c.1741		15	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533287	0.64972	.	.	ENSG00000137822	ENST00000260383	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.44542	1.39	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.17433	0.008;0.018	T	0.55147	-0.8186	9	0.51188	T	0.08	-21.5037	18.0387	0.89313	0.0:1.0:0.0:0.0	.	581;580	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	Y	580	.	ENSP00000260383:H580Y	H	+	1	0	TUBGCP4	41483179	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.776000	0.85560	2.575000	0.86900	0.591000	0.81541	CAC	TUBGCP4	-	NULL		0.473	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	C	NM_014444		43695887	+1	no_errors	ENST00000260383	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBGCP4	27229	genome.wustl.edu	37	15	43695904	43695904	+	Silent	SNP	C	C	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:43695904C>A	ENST00000260383.7	+	16	2012	c.1758C>A	c.(1756-1758)atC>atA	p.I586I	TUBGCP4_ENST00000564079.1_Silent_p.I585I|TUBGCP4_ENST00000399460.3_3'UTR			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	586					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAATGAAATCCTAGATCTCT	0.498																																																	0													91.0	88.0	89.0					15																	43695904		1922	4134	6056	SO:0001819	synonymous_variant	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1758C>A	15.37:g.43695904C>A			B3KNK6|Q969X3|Q9NVF0	Silent	SNP	pfam_Spc97_Spc98	p.I586	ENST00000260383.7	37	c.1758		15																																																																																			TUBGCP4	-	NULL		0.498	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	C	NM_014444		43695904	+1	no_errors	ENST00000260383	ensembl	human	known	70_37	silent	SNP	1.000	A
UBE3B	89910	genome.wustl.edu	37	12	109948163	109948163	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr12:109948163G>A	ENST00000342494.3	+	17	2351	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	UBE3B_ENST00000280774.5_Missense_Mutation_p.E586K|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.E586K	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	586					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CGCCAAGGGTGAGACCTTGGA	0.592																																																	0													52.0	42.0	45.0					12																	109948163		2203	4299	6502	SO:0001583	missense	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.1756G>A	12.37:g.109948163G>A	ENSP00000340596:p.Glu586Lys		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.E586K	ENST00000342494.3	37	c.1756	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118353	0.56505	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494;ENST00000539584	T;T;T;T	0.44083	1.26;0.93;1.52;1.26	4.98	4.98	0.66077	.	0.164448	0.52532	D	0.000071	T	0.34395	0.0896	L	0.43152	1.355	0.80722	D	1	B	0.18610	0.029	B	0.12837	0.008	T	0.17440	-1.0369	10	0.08179	T	0.78	-18.9067	16.8064	0.85706	0.0:0.0:1.0:0.0	.	586	Q7Z3V4	UBE3B_HUMAN	K	586;586;586;586;13	ENSP00000391529:E586K;ENSP00000280774:E586K;ENSP00000443131:E586K;ENSP00000340596:E586K	ENSP00000280774:E586K	E	+	1	0	UBE3B	108432546	1.000000	0.71417	0.972000	0.41901	0.877000	0.50540	9.132000	0.94455	2.298000	0.77334	0.462000	0.41574	GAG	UBE3B	-	NULL		0.592	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	G	NM_183415		109948163	+1	no_errors	ENST00000342494	ensembl	human	known	70_37	missense	SNP	1.000	A
UBL4B	164153	genome.wustl.edu	37	1	110655651	110655651	+	Silent	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:110655651G>A	ENST00000334179.3	+	1	590	c.495G>A	c.(493-495)gaG>gaA	p.E165E		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	165						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTGACATGGAGGAGAAGGAGG	0.582																																																	0													19.0	21.0	20.0					1																	110655651		2201	4289	6490	SO:0001819	synonymous_variant	164153				CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.495G>A	1.37:g.110655651G>A				Silent	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E165	ENST00000334179.3	37	c.495	CCDS820.1	1																																																																																			UBL4B	-	NULL		0.582	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4B	HGNC	protein_coding	OTTHUMT00000392303.1	G	NM_203412		110655651	+1	no_errors	ENST00000334179	ensembl	human	known	70_37	silent	SNP	0.002	A
UBOX5	22888	genome.wustl.edu	37	20	3102944	3102944	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr20:3102944G>A	ENST00000217173.2	-	3	812	c.341C>T	c.(340-342)gCg>gTg	p.A114V	UBOX5_ENST00000348031.2_Missense_Mutation_p.A114V|UBOX5-AS1_ENST00000446537.1_RNA	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						CAAGGTGAACGCCTCCTTGTC	0.567																																																	0													55.0	54.0	54.0					20																	3102944		2203	4300	6503	SO:0001583	missense	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.341C>T	20.37:g.3102944G>A	ENSP00000217173:p.Ala114Val			Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.A114V	ENST00000217173.2	37	c.341	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426118	0.25726	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.32753	1.44;1.44	5.32	3.25	0.37280	.	0.784175	0.11815	U	0.526776	T	0.24851	0.0603	L	0.51422	1.61	0.09310	N	1	B;B;B	0.34313	0.448;0.083;0.448	B;B;B	0.28011	0.085;0.011;0.085	T	0.16305	-1.0407	10	0.52906	T	0.07	-3.4802	7.0495	0.25065	0.1507:0.1423:0.707:0.0	.	114;114;114	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	V	114	ENSP00000217173:A114V;ENSP00000311726:A114V	ENSP00000217173:A114V	A	-	2	0	UBOX5	3050944	0.006000	0.16342	0.477000	0.27303	0.829000	0.46940	1.011000	0.29911	1.232000	0.43678	0.563000	0.77884	GCG	UBOX5	-	NULL		0.567	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	G	NM_014948		3102944	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	missense	SNP	0.063	A
USP6	9098	genome.wustl.edu	37	17	5032143	5032143	+	5'UTR	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr17:5032143C>T	ENST00000250066.6	+	0	457				USP6_ENST00000332776.4_Intron|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_3'UTR|USP6_ENST00000574788.1_Intron	NM_004505.2	NP_004496.2	P35125	UBP6_HUMAN	ubiquitin specific peptidase 6						cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGTGGTATTCACAAGCGGTT	0.522			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0																																										SO:0001623	5_prime_UTR_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000250066.6:c.-1243C>T	17.37:g.5032143C>T			Q15634|Q86WP6|Q8IWT4	RNA	SNP	-	NULL	ENST00000250066.6	37	NULL	CCDS11069.2	17																																																																																			USP6	-	-		0.522	USP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000216914.1	C	NM_004505		5032143	+1	no_errors	ENST00000572429	ensembl	human	known	70_37	rna	SNP	0.007	T
VWA5B1	127731	genome.wustl.edu	37	1	20664309	20664309	+	Missense_Mutation	SNP	C	C	T	rs553545017		TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:20664309C>T	ENST00000375079.2	+	14	2309	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W	VWA5B1_ENST00000375083.4_Missense_Mutation_p.R705W|VWA5B1_ENST00000289815.8_Missense_Mutation_p.R705W|VWA5B1_ENST00000289825.4_Missense_Mutation_p.R422W|VWA5B1_ENST00000525343.1_3'UTR	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	705						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						GGATGTCCAGCGGTGGCAGAT	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20129	0.0		0.0	False		,,,				2504	0.0																0													64.0	68.0	67.0					1																	20664309		692	1591	2283	SO:0001583	missense	127731			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.2113C>T	1.37:g.20664309C>T	ENSP00000364220:p.Arg705Trp		A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R705W	ENST00000375079.2	37	c.2113		1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405375	0.25378	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000289825;ENST00000375079	T;T;T;T	0.14640	2.49;2.49;3.44;2.49	5.72	-7.3	0.01446	.	2.380380	0.01288	N	0.009937	T	0.06917	0.0176	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.17268	0.021;0.008;0.003;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.0	T	0.27806	-1.0063	10	0.62326	D	0.03	0.1268	5.6469	0.17594	0.2647:0.3392:0.0:0.396	.	705;705;705;422	Q5TIE3;Q5TIE3-5;Q5TIE3-2;Q5TIE3-3	VW5B1_HUMAN;.;.;.	W	705;705;705;422;705	ENSP00000289815:R705W;ENSP00000364224:R705W;ENSP00000289825:R422W;ENSP00000364220:R705W	ENSP00000289815:R705W	R	+	1	2	VWA5B1	20536896	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.867000	0.04241	-2.617000	0.00442	-2.753000	0.00124	CGG	VWA5B1	-	NULL		0.607	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	C	XM_001722222		20664309	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	missense	SNP	0.000	T
WDR93	56964	genome.wustl.edu	37	15	90276274	90276274	+	Silent	SNP	T	T	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr15:90276274T>C	ENST00000268130.7	+	13	1469	c.1368T>C	c.(1366-1368)tgT>tgC	p.C456C	WDR93_ENST00000560294.1_Intron|WDR93_ENST00000444934.2_Silent_p.C173C	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	456					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCAGGGATGTTTCTGCCAAA	0.483																																																	0													111.0	121.0	118.0					15																	90276274		2200	4299	6499	SO:0001819	synonymous_variant	56964				CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1368T>C	15.37:g.90276274T>C			Q8N7Y8|Q9NP89	Silent	SNP	superfamily_WD40_repeat_dom	p.C456	ENST00000268130.7	37	c.1368	CCDS32326.1	15																																																																																			WDR93	-	superfamily_WD40_repeat_dom		0.483	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR93	HGNC	protein_coding	OTTHUMT00000416369.1	T	NM_020212		90276274	+1	no_errors	ENST00000268130	ensembl	human	known	70_37	silent	SNP	0.010	C
XPR1	9213	genome.wustl.edu	37	1	180849254	180849254	+	Silent	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:180849254G>C	ENST00000367590.4	+	14	2049	c.1851G>C	c.(1849-1851)ctG>ctC	p.L617L	XPR1_ENST00000367589.3_Silent_p.L552L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	617	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATGAACATCTGAATAACTGTG	0.463																																																	0													117.0	116.0	116.0					1																	180849254		2203	4300	6503	SO:0001819	synonymous_variant	9213			AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1851G>C	1.37:g.180849254G>C			O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	pfam_EXS_C,pfam_SPX_N	p.L617	ENST00000367590.4	37	c.1851	CCDS1340.1	1																																																																																			XPR1	-	pfam_EXS_C		0.463	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPR1	HGNC	protein_coding	OTTHUMT00000084996.2	G	NM_004736		180849254	+1	no_errors	ENST00000367590	ensembl	human	known	70_37	silent	SNP	1.000	C
YIPF5	81555	genome.wustl.edu	37	5	143541826	143541826	+	Silent	SNP	C	C	T	rs76530087	byFrequency	TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr5:143541826C>T	ENST00000274496.5	-	5	701	c.567G>A	c.(565-567)ctG>ctA	p.L189L	YIPF5_ENST00000448443.2_Silent_p.L189L|YIPF5_ENST00000513112.1_Silent_p.L135L	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	189					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GGATCATGGGCAGAAGACAAT	0.373																																																	0													152.0	134.0	140.0					5																	143541826		2203	4300	6503	SO:0001819	synonymous_variant	81555			AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.567G>A	5.37:g.143541826C>T			D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Silent	SNP	pfam_Yip1	p.L189	ENST00000274496.5	37	c.567	CCDS4279.1	5																																																																																			YIPF5	-	pfam_Yip1		0.373	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF5	HGNC	protein_coding	OTTHUMT00000251882.1	C	NM_030799		143541826	-1	no_errors	ENST00000274496	ensembl	human	known	70_37	silent	SNP	0.993	T
ZBBX	79740	genome.wustl.edu	37	3	167090668	167090668	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr3:167090668C>T	ENST00000392766.2	-	4	362	c.22G>A	c.(22-24)Gtt>Att	p.V8I	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.V8I|ZBBX_ENST00000392767.2_Missense_Mutation_p.V8I|ZBBX_ENST00000455345.2_Missense_Mutation_p.V8I|ZBBX_ENST00000392764.1_5'UTR	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	8						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CATGGAAGAACTACAAAATCT	0.279																																																	0													55.0	54.0	54.0					3																	167090668		1789	4050	5839	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.22G>A	3.37:g.167090668C>T	ENSP00000376519:p.Val8Ile		A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.V8I	ENST00000392766.2	37	c.22	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848792	0.71603	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000474464	T;T;T;T;T	0.34275	2.75;2.75;2.75;2.75;1.37	5.63	5.63	0.86233	.	.	.	.	.	T	0.53738	0.1815	L	0.50333	1.59	0.36818	D	0.886255	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.991	T	0.56559	-0.7959	9	0.42905	T	0.14	-8.4197	15.1875	0.73016	0.0:1.0:0.0:0.0	.	8;8	A8MT70-2;A8MT70	.;ZBBX_HUMAN	I	8	ENSP00000376519:V8I;ENSP00000376520:V8I;ENSP00000390232:V8I;ENSP00000305065:V8I;ENSP00000419307:V8I	ENSP00000305065:V8I	V	-	1	0	ZBBX	168573362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.002000	0.40835	2.664000	0.90586	0.591000	0.81541	GTT	ZBBX	-	NULL		0.279	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	C	NM_024687		167090668	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	1.000	T
ZBTB18	10472	genome.wustl.edu	37	1	244217341	244217341	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr1:244217341G>C	ENST00000358704.4	+	2	414	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	80	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTCCTGCTTGAATTCATGTA	0.453																																																	0													68.0	68.0	68.0					1																	244217341		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.265G>C	1.37:g.244217341G>C	ENSP00000351539:p.Glu89Gln		A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E89Q	ENST00000358704.4	37	c.265	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887844	0.72410	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.72051	-0.62	4.98	4.98	0.66077	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78660	0.4318	L	0.37466	1.105	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.995	D;P;D	0.79108	0.992;0.902;0.941	T	0.79997	-0.1567	10	0.52906	T	0.07	.	18.2404	0.89966	0.0:0.0:1.0:0.0	.	89;80;89	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	Q	89	ENSP00000351539:E89Q	ENSP00000351539:E89Q	E	+	1	0	ZNF238	242283964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.315000	0.78130	0.655000	0.94253	GAA	ZNF238	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.453	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217341	+1	no_errors	ENST00000358704	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF24	7572	genome.wustl.edu	37	18	32920460	32920460	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr18:32920460C>T	ENST00000261332.6	-	2	334	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	ZNF24_ENST00000589881.1_Missense_Mutation_p.R52Q|ZNF24_ENST00000399061.3_Missense_Mutation_p.R52Q	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|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)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GAATCGCTGTCGGAAAATCTC	0.547																																					Colon(42;769 913 8916 19469 46270)												0													74.0	73.0	74.0					18																	32920460		2203	4300	6503	SO:0001583	missense	7572			AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.155G>A	18.37:g.32920460C>T	ENSP00000261332:p.Arg52Gln		O14754|Q53YE4|Q6ICR5|Q8IZN4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R52Q	ENST00000261332.6	37	c.155	CCDS11912.1	18	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988897	0.74589	.	.	ENSG00000172466	ENST00000261332;ENST00000399061	T;T	0.07908	3.15;3.15	4.19	3.3	0.37823	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.37669	N	0.001991	T	0.32704	0.0838	M	0.90082	3.085	0.34023	D	0.652928	D;D	0.89917	1.0;0.991	D;B	0.79108	0.992;0.38	T	0.56613	-0.7950	10	0.87932	D	0	.	11.349	0.49577	0.1826:0.8174:0.0:0.0	.	52;52	P17028-2;P17028	.;ZNF24_HUMAN	Q	52	ENSP00000261332:R52Q;ENSP00000382015:R52Q	ENSP00000261332:R52Q	R	-	2	0	ZNF24	31174458	1.000000	0.71417	0.950000	0.38849	0.974000	0.67602	2.633000	0.46519	1.101000	0.41535	0.655000	0.94253	CGA	ZNF24	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.547	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF24	HGNC	protein_coding	OTTHUMT00000255769.1	C	NM_006965		32920460	-1	no_errors	ENST00000261332	ensembl	human	known	70_37	missense	SNP	0.908	T
ZNF260	339324	genome.wustl.edu	37	19	37004907	37004907	+	Missense_Mutation	SNP	G	G	C			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:37004907G>C	ENST00000523638.1	-	3	2355	c.1234C>G	c.(1234-1236)Cat>Gat	p.H412D	ZNF260_ENST00000592282.1_Missense_Mutation_p.H412D|ZNF260_ENST00000593142.1_Missense_Mutation_p.H412D|ZNF260_ENST00000588993.1_Missense_Mutation_p.H412D	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	412					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GAACTTTAATGAGTATGAATT	0.343																																																	0													63.0	63.0	63.0					19																	37004907		2203	4300	6503	SO:0001583	missense	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1234C>G	19.37:g.37004907G>C	ENSP00000429803:p.His412Asp		Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H412D	ENST00000523638.1	37	c.1234	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063083	0.55432	.	.	ENSG00000254004	ENST00000523638	T	0.07021	3.23	4.07	2.94	0.34122	Zinc finger, C2H2 (2);	.	.	.	.	T	0.03783	0.0107	N	0.01751	-0.74	0.33375	D	0.574067	P	0.42827	0.791	B	0.41236	0.351	T	0.25779	-1.0122	9	0.66056	D	0.02	.	9.728	0.40344	0.0:0.2998:0.7002:0.0	.	412	Q3ZCT1	ZN260_HUMAN	D	412	ENSP00000429803:H412D	ENSP00000429803:H412D	H	-	1	0	ZNF260	41696747	0.098000	0.21812	1.000000	0.80357	0.976000	0.68499	0.054000	0.14205	2.241000	0.73720	0.462000	0.41574	CAT	ZNF260	-	pfscan_Znf_C2H2		0.343	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	G	NM_001012756		37004907	-1	no_errors	ENST00000523638	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF559	84527	genome.wustl.edu	37	19	9449914	9449914	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:9449914G>A	ENST00000393883.2	+	4	727	c.79G>A	c.(79-81)Gag>Aag	p.E27K	ZNF559_ENST00000585352.1_Missense_Mutation_p.E27K|ZNF559_ENST00000603380.1_Missense_Mutation_p.E27K|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000592504.1_Missense_Mutation_p.E27K|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000317221.7_Missense_Mutation_p.E27K|ZNF559_ENST00000586255.1_Missense_Mutation_p.E55K|ZNF559_ENST00000587557.1_Missense_Mutation_p.E91K|ZNF559_ENST00000592896.1_Missense_Mutation_p.E55K	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CACCCAGGAGGAGTGGACTTT	0.468																																																	0													206.0	177.0	187.0					19																	9449914		2203	4300	6503	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.79G>A	19.37:g.9449914G>A	ENSP00000377461:p.Glu27Lys		K7EMG6	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.E27K	ENST00000393883.2	37	c.79	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762061	0.49468	.	.	ENSG00000188321	ENST00000317221;ENST00000393883	T;T	0.12255	2.7;2.7	2.32	0.134	0.14771	Krueppel-associated box (4);	.	.	.	.	T	0.43964	0.1271	H	0.98027	4.13	0.20638	N	0.999879	D	0.59357	0.985	P	0.61132	0.884	T	0.24799	-1.0150	9	0.56958	D	0.05	.	6.3138	0.21178	0.2803:0.0:0.7197:0.0	.	27	Q9BR84	ZN559_HUMAN	K	27	ENSP00000325393:E27K;ENSP00000377461:E27K	ENSP00000325393:E27K	E	+	1	0	ZNF559	9310914	0.991000	0.36638	0.008000	0.14137	0.925000	0.55904	1.946000	0.40283	0.101000	0.17610	0.313000	0.20887	GAG	ZNF559	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.468	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	G	NM_032497		9449914	+1	no_errors	ENST00000393883	ensembl	human	known	70_37	missense	SNP	0.150	A
ZNF284	342909	genome.wustl.edu	37	19	44590140	44590140	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chr19:44590140C>G	ENST00000421176.3	+	5	725	c.509C>G	c.(508-510)tCa>tGa	p.S170*	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CAATTACACTCAGGAAAGATA	0.383																																																	0													52.0	51.0	51.0					19																	44590140		2047	4219	6266	SO:0001587	stop_gained	342909			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.509C>G	19.37:g.44590140C>G	ENSP00000411032:p.Ser170*		Q86WM1	Nonsense_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.S170*	ENST00000421176.3	37	c.509	CCDS46099.1	19	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839401	0.71488	.	.	ENSG00000186026	ENST00000421176	.	.	.	2.59	1.53	0.23141	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.3677	0.32397	0.0:0.8712:0.0:0.1288	.	.	.	.	X	170	.	ENSP00000411032:S170X	S	+	2	0	ZNF284	49281980	0.000000	0.05858	0.009000	0.14445	0.025000	0.11179	-0.599000	0.05700	0.404000	0.25506	0.462000	0.41574	TCA	ZNF284	-	NULL		0.383	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF284	HGNC	protein_coding	OTTHUMT00000460473.1	C	NM_001037813		44590140	+1	no_errors	ENST00000421176	ensembl	human	known	70_37	nonsense	SNP	0.123	G
ZXDA	7789	genome.wustl.edu	37	X	57935544	57935544	+	Silent	SNP	C	C	T			TCGA-FU-A2QG-01A-11D-A18J-09	TCGA-FU-A2QG-10A-01D-A18J-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	581bfb7a-017b-4f4e-aa60-effcc1fefa0e	e99dca04-ac4c-47f2-8375-e5b63f1e11b4	g.chrX:57935544C>T	ENST00000358697.4	-	1	1523	c.1311G>A	c.(1309-1311)ctG>ctA	p.L437L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	437	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L437L(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGTGAATTTTCAGCCTACAAG	0.507																																																	2	Substitution - coding silent(2)	breast(2)											82.0	74.0	77.0					X																	57935544		2203	4300	6503	SO:0001819	synonymous_variant	7789			L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1311G>A	X.37:g.57935544C>T			Q9UJP7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L437	ENST00000358697.4	37	c.1311	CCDS14376.1	X																																																																																			ZXDA	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.507	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZXDA	HGNC	protein_coding	OTTHUMT00000056925.1	C	NM_007156		57935544	-1	no_errors	ENST00000358697	ensembl	human	known	70_37	silent	SNP	0.996	T
