#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AAAS	8086	genome.wustl.edu	37	12	53703052	53703052	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53703052G>C	ENST00000209873.4	-	9	989	c.824C>G	c.(823-825)tCa>tGa	p.S275*	AAAS_ENST00000550286.1_Nonsense_Mutation_p.S151*|AAAS_ENST00000394384.3_Nonsense_Mutation_p.S242*|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	275					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GGTCTCTGTTGAGACATCCCA	0.562																																																	0													64.0	63.0	63.0					12																	53703052		2203	4300	6503	SO:0001587	stop_gained	8086			AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.824C>G	12.37:g.53703052G>C	ENSP00000209873:p.Ser275*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JB47|Q9NWI6|Q9UG19	Nonsense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S275*	ENST00000209873.4	37	c.824	CCDS8856.1	12	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317127	0.81469	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000550286;ENST00000547757	.	.	.	5.34	5.34	0.76211	.	0.185074	0.48286	D	0.000196	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-4.0876	16.9908	0.86353	0.0:0.0:1.0:0.0	.	.	.	.	X	275;242;151;242	.	ENSP00000209873:S275X	S	-	2	0	AAAS	51989319	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	8.653000	0.91088	2.696000	0.92011	0.558000	0.71614	TCA	AAAS	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.562	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAAS	HGNC	protein_coding	OTTHUMT00000405632.1	G			53703052	-1	no_errors	ENST00000209873	ensembl	human	known	70_37	nonsense	SNP	0.985	C
AASDH	132949	genome.wustl.edu	37	4	57237772	57237772	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:57237772G>C	ENST00000205214.6	-	5	886	c.706C>G	c.(706-708)Ctg>Gtg	p.L236V	AASDH_ENST00000451613.1_Missense_Mutation_p.L236V|AASDH_ENST00000602986.1_Missense_Mutation_p.L83V|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.L236V|AASDH_ENST00000513376.1_Missense_Mutation_p.L136V|AASDH_ENST00000434343.2_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	236					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGTGAAGCCAGAAACAAAACA	0.398																																																	0													115.0	92.0	100.0					4																	57237772		2203	4300	6503	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.706C>G	4.37:g.57237772G>C	ENSP00000205214:p.Leu236Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like	p.L236V	ENST00000205214.6	37	c.706	CCDS3504.1	4	.	.	.	.	.	.	.	.	.	.	g	17.57	3.421961	0.62622	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.37	4.44	0.53790	AMP-dependent synthetase/ligase (1);	0.133240	0.51477	D	0.000087	T	0.49949	0.1587	L	0.48986	1.54	0.42111	D	0.991381	P;P;P;D	0.54047	0.824;0.693;0.633;0.964	P;B;B;P	0.61070	0.474;0.373;0.276;0.883	T	0.44298	-0.9337	10	0.40728	T	0.16	-6.4414	8.0479	0.30559	0.0893:0.0:0.6847:0.226	.	83;236;236;236	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	V	236;136;236;83;236	ENSP00000205214:L236V;ENSP00000423760:L136V;ENSP00000409656:L236V;ENSP00000421171:L236V	ENSP00000205214:L236V	L	-	1	2	AASDH	56932529	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.774000	0.26675	2.527000	0.85204	0.645000	0.84053	CTG	AASDH	-	pfam_AMP-dep_Synth/Lig		0.398	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDH	HGNC	protein_coding	OTTHUMT00000250780.1	G	NM_181806		57237772	-1	no_errors	ENST00000205214	ensembl	human	known	70_37	missense	SNP	1.000	C
ABCA12	26154	genome.wustl.edu	37	2	215868960	215868960	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:215868960delC	ENST00000272895.7	-	20	2875	c.2656delG	c.(2656-2658)gaafs	p.E886fs	ABCA12_ENST00000389661.4_Frame_Shift_Del_p.E568fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	886					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCAATAGTTCAACAGCATCG	0.333																																					Ovarian(66;664 1488 5121 34295)												0													64.0	66.0	65.0					2																	215868960		2203	4300	6503	SO:0001589	frameshift_variant	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2656delG	2.37:g.215868960delC	ENSP00000272895:p.Glu886fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E886fs	ENST00000272895.7	37	c.2656	CCDS33372.1	2																																																																																			ABCA12	-	NULL		0.333	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	C	NM_173076		215868960	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
ABCA4	24	genome.wustl.edu	37	1	94463474	94463474	+	Silent	SNP	G	G	A	rs538551610		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:94463474G>A	ENST00000370225.3	-	48	6758	c.6672C>T	c.(6670-6672)tcC>tcT	p.S2224S	ABCA4_ENST00000536513.1_Silent_p.S494S|ABCA4_ENST00000535881.1_Silent_p.S343S	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2224					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGTCCTTGTGGGAGAGGAGGA	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19168	0.0		0.001	False		,,,				2504	0.0																0													138.0	102.0	114.0					1																	94463474		2203	4300	6503	SO:0001819	synonymous_variant	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6672C>T	1.37:g.94463474G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.S2224	ENST00000370225.3	37	c.6672	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt		0.597	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	G	NM_000350		94463474	-1	no_errors	ENST00000370225	ensembl	human	known	70_37	silent	SNP	1.000	A
ABCB11	8647	genome.wustl.edu	37	2	169801175	169801175	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:169801175G>A	ENST00000263817.6	-	21	2674	c.2550C>T	c.(2548-2550)ctC>ctT	p.L850L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	850	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GGCTATTTCTGAGGTCATCAA	0.448																																																	0													176.0	164.0	168.0					2																	169801175		1896	4120	6016	SO:0001819	synonymous_variant	8647			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2550C>T	2.37:g.169801175G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL2|Q9UNB2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.L850	ENST00000263817.6	37	c.2550	CCDS46444.1	2																																																																																			ABCB11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	HGNC	protein_coding	OTTHUMT00000333616.2	G	NM_003742		169801175	-1	no_errors	ENST00000263817	ensembl	human	known	70_37	silent	SNP	0.925	A
ABCB7	22	genome.wustl.edu	37	X	74295395	74295395	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:74295395C>G	ENST00000373394.3	-	6	664	c.657G>C	c.(655-657)caG>caC	p.Q219H	ABCB7_ENST00000339447.4_Missense_Mutation_p.Q179H|ABCB7_ENST00000534570.1_5'Flank|ABCB7_ENST00000253577.3_Missense_Mutation_p.Q220H			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	219	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGATTGAATTCTGGGCTACCT	0.403																																																	0													91.0	78.0	83.0					X																	74295395		2203	4300	6503	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.657G>C	X.37:g.74295395C>G	ENSP00000362492:p.Gln219His	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.Q220H	ENST00000373394.3	37	c.660		X	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339328	0.41398	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949;ENST00000534524	D;D;D;D;D	0.92348	-2.64;-2.64;-2.64;-2.64;-3.02	5.58	4.41	0.53225	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.050355	0.85682	D	0.000000	D	0.92182	0.7521	M	0.79926	2.475	0.80722	D	1	B;B;B;B;B	0.27498	0.149;0.073;0.09;0.18;0.073	B;B;B;B;B	0.37387	0.16;0.12;0.19;0.248;0.12	D	0.88806	0.3288	10	0.54805	T	0.06	-27.557	7.6685	0.28445	0.0:0.1659:0.0:0.8341	.	193;179;220;219;220	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	H	193;220;179;219;193;164	ENSP00000253577:Q220H;ENSP00000343849:Q179H;ENSP00000362492:Q219H;ENSP00000436586:Q193H;ENSP00000435521:Q164H	ENSP00000253577:Q220H	Q	-	3	2	ABCB7	74212120	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.063000	0.41423	0.734000	0.32515	-0.499000	0.04595	CAG	ABCB7	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.403	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	ABCB7	HGNC	protein_coding	OTTHUMT00000057274.1	C	NM_004299		74295395	-1	no_errors	ENST00000253577	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCC2	1244	genome.wustl.edu	37	10	101611362	101611362	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:101611362G>A	ENST00000370449.4	+	32	4725	c.4612G>A	c.(4612-4614)Gag>Aag	p.E1538K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1538					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGCTGGCATTGAGAATGTGAA	0.378																																																	0													104.0	105.0	105.0					10																	101611362		2203	4300	6503	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.4612G>A	10.37:g.101611362G>A	ENSP00000359478:p.Glu1538Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E1538K	ENST00000370449.4	37	c.4612	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676837	0.47886	.	.	ENSG00000023839	ENST00000370449	D	0.88896	-2.44	4.68	4.68	0.58851	.	0.584872	0.18805	N	0.130665	T	0.79028	0.4377	N	0.16833	0.445	0.80722	D	1	B	0.28233	0.204	B	0.27500	0.08	T	0.74118	-0.3768	10	0.22706	T	0.39	-8.5525	10.7847	0.46398	0.0918:0.0:0.9082:0.0	.	1538	Q92887	MRP2_HUMAN	K	1538	ENSP00000359478:E1538K	ENSP00000359478:E1538K	E	+	1	0	ABCC2	101601352	0.244000	0.23889	0.991000	0.47740	0.867000	0.49689	0.721000	0.25911	2.412000	0.81896	0.555000	0.69702	GAG	ABCC2	-	NULL		0.378	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	G	NM_000392		101611362	+1	no_errors	ENST00000370449	ensembl	human	known	70_37	missense	SNP	0.831	A
ABCC6	368	genome.wustl.edu	37	16	16244559	16244559	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:16244559C>T	ENST00000205557.7	-	30	4308	c.4279G>A	c.(4279-4281)Gag>Aag	p.E1427K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1427	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GCAGTAGCCTCGTCCAGGATG	0.617																																																	0													45.0	38.0	41.0					16																	16244559		2197	4300	6497	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4279G>A	16.37:g.16244559C>T	ENSP00000205557:p.Glu1427Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E1427K	ENST00000205557.7	37	c.4279	CCDS10568.1	16	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673463	0.88445	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.98150	-4.75	4.36	4.36	0.52297	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.43579	U	0.000542	D	0.99399	0.9788	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97922	1.0315	10	0.87932	D	0	.	16.881	0.86063	0.0:1.0:0.0:0.0	.	1427;1427	O95255;A8Y988	MRP6_HUMAN;.	K	1427;365	ENSP00000205557:E1427K	ENSP00000205557:E1427K	E	-	1	0	ABCC6	16152060	1.000000	0.71417	0.998000	0.56505	0.531000	0.34715	7.640000	0.83355	2.154000	0.67381	0.549000	0.68633	GAG	ABCC6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc		0.617	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC6	HGNC	protein_coding	OTTHUMT00000252232.2	C			16244559	-1	no_errors	ENST00000205557	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCC8	6833	genome.wustl.edu	37	11	17496434	17496434	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:17496434C>T	ENST00000389817.3	-	2	357	c.289G>A	c.(289-291)Ggg>Agg	p.G97R	ABCC8_ENST00000302539.4_Splice_Site_p.G97R			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	97					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTCACTCACCCATCAGACAGG	0.532																																																	0													162.0	122.0	135.0					11																	17496434		2200	4293	6493	SO:0001630	splice_region_variant	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.290+1G>A	11.37:g.17496434C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.G97R	ENST00000389817.3	37	c.289	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803165	0.50315	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.97279	-4.32;-4.32	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.95252	0.8460	L	0.54323	1.7	0.53005	D	0.999962	B;B	0.14438	0.01;0.01	B;B	0.17722	0.019;0.008	D	0.93243	0.6628	10	0.16420	T	0.52	.	18.4048	0.90532	0.0:1.0:0.0:0.0	.	97;97	B7Z4N0;Q09428	.;ABCC8_HUMAN	R	97;97;111	ENSP00000374467:G97R;ENSP00000303960:G97R	ENSP00000303960:G97R	G	-	1	0	ABCC8	17453010	0.995000	0.38212	0.999000	0.59377	0.929000	0.56500	2.209000	0.42806	2.357000	0.79964	0.585000	0.79938	GGG	ABCC8	-	NULL		0.532	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	C	NM_000352	Missense_Mutation	17496434	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCD1	215	genome.wustl.edu	37	X	152991176	152991176	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:152991176G>A	ENST00000218104.3	+	1	854	c.455G>A	c.(454-456)cGt>cAt	p.R152H	BCAP31_ENST00000458587.2_5'Flank|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000345046.6_5'Flank|BCAP31_ENST00000441714.1_5'Flank	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	152	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.		R -> C (in ALD; ADO-type). {ECO:0000269|PubMed:15643618}.|R -> L (in ALD).|R -> P (in ALD).|R -> S (in ALD). {ECO:0000269|PubMed:10737980}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGCCATCCGTTACCTGGAG	0.652																																																	0			GRCh37	CM950032	ABCD1	M							52.0	44.0	46.0					X																	152991176		2202	4300	6502	SO:0001583	missense	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.455G>A	X.37:g.152991176G>A	ENSP00000218104:p.Arg152His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.R152H	ENST00000218104.3	37	c.455	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390811	0.82902	.	.	ENSG00000101986	ENST00000218104	D	0.99667	-6.34	5.57	5.57	0.84162	ABC transporter, N-terminal (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97823	1.0258	10	0.87932	D	0	-30.3982	17.2499	0.87039	0.0:0.0:1.0:0.0	.	152	P33897	ABCD1_HUMAN	H	152	ENSP00000218104:R152H	ENSP00000218104:R152H	R	+	2	0	ABCD1	152644370	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	9.463000	0.97652	2.339000	0.79563	0.529000	0.55759	CGT	ABCD1	-	pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter		0.652	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	G	NM_000033		152991176	+1	no_errors	ENST00000218104	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCG1	9619	genome.wustl.edu	37	21	43702483	43702483	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:43702483G>C	ENST00000361802.2	+	6	833	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	ABCG1_ENST00000398437.1_Missense_Mutation_p.E376Q|ABCG1_ENST00000398449.3_Missense_Mutation_p.E230Q|ABCG1_ENST00000340588.4_Missense_Mutation_p.E338Q|ABCG1_ENST00000347800.2_Missense_Mutation_p.E227Q|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.E241Q|ABCG1_ENST00000398457.2_Missense_Mutation_p.E232Q	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	230	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CATCGCGCTGGAGCTGGTGAA	0.607																																																	0													65.0	60.0	62.0					21																	43702483		2203	4300	6503	SO:0001583	missense	9619			U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.688G>C	21.37:g.43702483G>C	ENSP00000354995:p.Glu230Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease	p.E376Q	ENST00000361802.2	37	c.1126	CCDS13682.1	21	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715425	0.89112	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	T;T;D;T;T;T;T;T	0.93426	1.73;1.73;-3.22;1.73;1.73;1.73;1.73;1.73	4.44	4.44	0.53790	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.064057	0.64402	D	0.000012	D	0.93805	0.8019	N	0.25426	0.745	0.80722	D	1	D;P;D;D;P;D	0.89917	1.0;0.929;0.989;0.985;0.929;0.996	D;P;D;P;P;D	0.81914	0.995;0.839;0.962;0.854;0.773;0.991	D	0.93181	0.6574	9	.	.	.	-32.1635	17.4322	0.87542	0.0:0.0:1.0:0.0	.	241;241;230;230;227;232	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	Q	232;227;213;230;230;241;376;338	ENSP00000381475:E232Q;ENSP00000291524:E227Q;ENSP00000414541:E213Q;ENSP00000381467:E230Q;ENSP00000354995:E230Q;ENSP00000339744:E241Q;ENSP00000381464:E376Q;ENSP00000343820:E338Q	.	E	+	1	0	ABCG1	42575552	1.000000	0.71417	0.997000	0.53966	0.888000	0.51559	9.451000	0.97610	2.177000	0.69029	0.591000	0.81541	GAG	ABCG1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease		0.607	ABCG1-006	KNOWN	basic|CCDS	protein_coding	ABCG1	HGNC	protein_coding	OTTHUMT00000195318.2	G	NM_207174		43702483	+1	no_errors	ENST00000398437	ensembl	human	known	70_37	missense	SNP	1.000	C
ABCG8	64241	genome.wustl.edu	37	2	44104968	44104968	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:44104968C>T	ENST00000272286.2	+	13	2028	c.1938C>T	c.(1936-1938)atC>atT	p.I646I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	646	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TCTACCTCATCGTCATTGGCC	0.527											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													193.0	142.0	159.0					2																	44104968		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1938C>T	2.37:g.44104968C>T		Somatic	921	WXS	Illumina HiSeq	Phase_IV	Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.I646	ENST00000272286.2	37	c.1938	CCDS1815.1	2																																																																																			ABCG8	-	NULL		0.527	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44104968	+1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	0.560	T
ACACB	32	genome.wustl.edu	37	12	109614064	109614064	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:109614064G>C	ENST00000338432.7	+	9	1552	c.1433G>C	c.(1432-1434)aGa>aCa	p.R478T	ACACB_ENST00000377854.5_Missense_Mutation_p.R478T|ACACB_ENST00000377848.3_Missense_Mutation_p.R478T|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	478	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ATCCTTTTCAGACAAGTGAGC	0.463																																																	0													158.0	162.0	161.0					12																	109614064		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.1433G>C	12.37:g.109614064G>C	ENSP00000341044:p.Arg478Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R478T	ENST00000338432.7	37	c.1433	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.455783	0.96223	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	D;D;D	0.97791	-4.54;-4.54;-4.54	5.91	5.91	0.95273	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98372	0.9459	L	0.56280	1.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99211	1.0876	10	0.66056	D	0.02	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	478	O00763	ACACB_HUMAN	T	478	ENSP00000341044:R478T;ENSP00000367079:R478T;ENSP00000367085:R478T	ENSP00000341044:R478T	R	+	2	0	ACACB	108098447	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.808000	0.99193	2.808000	0.96608	0.655000	0.94253	AGA	ACACB	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom		0.463	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	G	NM_001093		109614064	+1	no_errors	ENST00000338432	ensembl	human	known	70_37	missense	SNP	1.000	C
ACAD11	84129	genome.wustl.edu	37	3	132294659	132294659	+	Missense_Mutation	SNP	C	C	T	rs140419880		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:132294659C>T	ENST00000264990.6	-	17	2929	c.1958G>A	c.(1957-1959)cGg>cAg	p.R653Q	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.R178Q	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	653					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						TTGTGTTGCCCGCTCACACAT	0.458													C|||	1	0.000199681	0.0	0.0	5008	,	,		18090	0.0		0.001	False		,,,				2504	0.0																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	107.0	100.0	103.0		1958	5.6	0.9	3	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ACAD11	NM_032169.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		653/781	132294659	2,13004	2203	4300	6503	SO:0001583	missense	84129			BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1958G>A	3.37:g.132294659C>T	ENSP00000264990:p.Arg653Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom	p.R653Q	ENST00000264990.6	37	c.1958	CCDS3074.1	3	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786394	0.90367	2.27E-4	1.16E-4	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.96073	-3.9;-3.9	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.98394	0.9466	M	0.93898	3.47	0.54753	D	0.999986	D	0.89917	1.0	D	0.91635	0.999	D	0.99376	1.0921	9	0.87932	D	0	.	18.353	0.90344	0.0:1.0:0.0:0.0	.	653	Q709F0	ACD11_HUMAN	Q	653;178	ENSP00000264990:R653Q;ENSP00000446263:R178Q	ENSP00000264990:R653Q	R	-	2	0	ACAD11	133777349	1.000000	0.71417	0.858000	0.33744	0.442000	0.32017	7.179000	0.77665	2.615000	0.88500	0.591000	0.81541	CGG	ACAD11	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.458	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD11	HGNC	protein_coding	OTTHUMT00000357279.2	C	NM_032169		132294659	-1	no_errors	ENST00000264990	ensembl	human	known	70_37	missense	SNP	0.995	T
ACADS	35	genome.wustl.edu	37	12	121175684	121175684	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:121175684G>A	ENST00000242592.4	+	5	668	c.517G>A	c.(517-519)Gag>Aag	p.E173K	ACADS_ENST00000411593.2_Intron|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	173					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CGCCCGGGCCGAGGGCGACTC	0.652																																																	0													54.0	54.0	54.0					12																	121175684		2203	4300	6503	SO:0001583	missense	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.517G>A	12.37:g.121175684G>A	ENSP00000242592:p.Glu173Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P78331	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.E173K	ENST00000242592.4	37	c.517	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251966	0.39797	.	.	ENSG00000122971	ENST00000242592	D	0.95622	-3.76	5.16	4.26	0.50523	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.324987	0.35970	N	0.002866	D	0.90222	0.6943	N	0.21282	0.65	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.15484	0.013;0.013	D	0.85217	0.1024	10	0.20046	T	0.44	.	13.5026	0.61467	0.0759:0.0:0.9241:0.0	.	173;173	E5KSD5;P16219	.;ACADS_HUMAN	K	173	ENSP00000242592:E173K	ENSP00000242592:E173K	E	+	1	0	ACADS	119660067	1.000000	0.71417	0.018000	0.16275	0.163000	0.22366	9.391000	0.97249	1.166000	0.42689	0.462000	0.41574	GAG	ACADS	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase		0.652	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	G	NM_000017		121175684	+1	no_errors	ENST00000242592	ensembl	human	known	70_37	missense	SNP	0.964	A
ACAN	176	genome.wustl.edu	37	15	89402424	89402424	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:89402424C>G	ENST00000561243.1	+	11	6608	c.6608C>G	c.(6607-6609)tCt>tGt	p.S2203C	ACAN_ENST00000352105.7_Missense_Mutation_p.S2203C|ACAN_ENST00000439576.2_Missense_Mutation_p.S2203C|ACAN_ENST00000559004.1_Missense_Mutation_p.S2203C			P16112	PGCA_HUMAN	aggrecan	2088	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.|G3.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGACCTGTCTGGTCACACC	0.592																																																	0													48.0	54.0	52.0					15																	89402424		2104	4224	6328	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.6608C>G	15.37:g.89402424C>G	ENSP00000453342:p.Ser2203Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.S2203C	ENST00000561243.1	37	c.6608	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296300	0.60086	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03301	3.98;4.06	5.11	5.11	0.69529	.	0.266274	0.20185	N	0.097426	T	0.18509	0.0444	M	0.71581	2.175	0.27682	N	0.946418	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	T	0.00681	-1.1612	10	0.66056	D	0.02	-5.1343	17.6179	0.88072	0.0:1.0:0.0:0.0	.	2203;2203	E7ENV9;E7EX88	.;.	C	2203;2203;2089	ENSP00000387356:S2203C;ENSP00000341615:S2203C	ENSP00000268134:S2089C	S	+	2	0	ACAN	87203428	0.925000	0.31364	0.865000	0.33974	0.657000	0.38888	1.400000	0.34577	2.395000	0.81488	0.549000	0.68633	TCT	ACAN	-	NULL		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	C	NM_001135		89402424	+1	no_errors	ENST00000439576	ensembl	human	known	70_37	missense	SNP	0.997	G
ACOT2	10965	genome.wustl.edu	37	14	74036564	74036564	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:74036564G>C	ENST00000238651.5	+	1	802	c.620G>C	c.(619-621)cGa>cCa	p.R207P	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	207					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GGCCGGGTGCGAGGCACGCTC	0.697																																																	0													7.0	8.0	7.0					14																	74036564		1814	3716	5530	SO:0001583	missense	10965			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.620G>C	14.37:g.74036564G>C	ENSP00000238651:p.Arg207Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.R207P	ENST00000238651.5	37	c.620	CCDS9816.1	14	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294358	0.23564	.	.	ENSG00000119673	ENST00000238651	T	0.39592	1.07	3.31	2.39	0.29439	.	0.200182	0.42294	N	0.000722	T	0.45236	0.1332	M	0.81942	2.565	0.49915	D	0.999831	B	0.32507	0.373	B	0.33521	0.165	T	0.49113	-0.8973	10	0.72032	D	0.01	-2.6661	10.8903	0.46992	0.0979:0.0:0.9021:0.0	.	207	P49753	ACOT2_HUMAN	P	207	ENSP00000238651:R207P	ENSP00000238651:R207P	R	+	2	0	ACOT2	73106317	1.000000	0.71417	0.687000	0.30102	0.002000	0.02628	3.751000	0.55165	0.472000	0.27344	0.205000	0.17691	CGA	ACOT2	-	pirsf_Acyl-CoA_thioEstase_long-chain		0.697	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	G	NM_006821		74036564	+1	no_errors	ENST00000238651	ensembl	human	known	70_37	missense	SNP	0.965	C
ACRC	93953	genome.wustl.edu	37	X	70832407	70832407	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:70832407G>A	ENST00000373695.1	+	11	2490	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	ACRC_ENST00000373696.3_Silent_p.T651T|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	651	SprT-like.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GATGCAAAACGAGGTAAGACT	0.458																																																	0													56.0	47.0	50.0					X																	70832407		2203	4300	6503	SO:0001819	synonymous_variant	93953			AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1953G>A	X.37:g.70832407G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG62	Silent	SNP	pfam_SprT-like_domain,smart_SprT-like_domain	p.T651	ENST00000373695.1	37	c.1953	CCDS35326.1	X																																																																																			ACRC	-	pfam_SprT-like_domain,smart_SprT-like_domain		0.458	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACRC	HGNC	protein_coding	OTTHUMT00000081856.1	G			70832407	+1	no_errors	ENST00000373695	ensembl	human	known	70_37	silent	SNP	0.932	A
ACTG1	71	genome.wustl.edu	37	17	79479009	79479009	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:79479009G>A	ENST00000575842.1	-	2	709	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	ACTG1_ENST00000573283.1_Missense_Mutation_p.R95C|RP13-766D20.2_ENST00000430912.1_RNA|ACTG1_ENST00000575087.1_Missense_Mutation_p.R95C|ACTG1_ENST00000331925.2_Missense_Mutation_p.R95C|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	95					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGGGCCACGCGCAGCTCGTTG	0.627																																																	0													53.0	58.0	56.0					17																	79479009		2202	4300	6502	SO:0001583	missense	71				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.283C>T	17.37:g.79479009G>A	ENSP00000458162:p.Arg95Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R95C	ENST00000575842.1	37	c.283	CCDS11782.1	17	.	.	.	.	.	.	.	.	.	.	G	9.103	1.004516	0.19199	.	.	ENSG00000184009	ENST00000331925;ENST00000447294	D	0.94828	-3.53	3.99	3.02	0.34903	.	0.000000	0.64402	D	0.000001	D	0.96953	0.9005	M	0.91038	3.17	0.58432	D	0.999992	D	0.64830	0.994	P	0.61592	0.891	D	0.96705	0.9521	10	0.87932	D	0	.	10.4209	0.44350	0.0982:0.0:0.9018:0.0	.	95	P63261	ACTG_HUMAN	C	95	ENSP00000331514:R95C	ENSP00000331514:R95C	R	-	1	0	ACTG1	77093604	1.000000	0.71417	0.885000	0.34714	0.053000	0.15095	3.221000	0.51215	0.901000	0.36495	0.563000	0.77884	CGC	ACTG1	-	pfam_Actin-like,smart_Actin-like		0.627	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	G	NM_001614		79479009	-1	no_errors	ENST00000331925	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTL6A	86	genome.wustl.edu	37	3	179305797	179305797	+	Nonstop_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:179305797G>C	ENST00000429709.2	+	14	1502	c.1289G>C	c.(1288-1290)tGa>tCa	p.*430S	ACTL6A_ENST00000450518.2_Nonstop_Mutation_p.*388S|ACTL6A_ENST00000392662.1_Nonstop_Mutation_p.*388S	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	0					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			AAATGCCCTTGAGAAAGAGTT	0.368																																																	0													85.0	104.0	97.0					3																	179305797		2203	4300	6503	SO:0001578	stop_lost	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.1289G>C	3.37:g.179305797G>C	ENSP00000397552:p.*430Serext*54	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Nonstop_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.*430S	ENST00000429709.2	37	c.1289	CCDS3231.1	3	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684820	0.47991	.	.	ENSG00000136518	ENST00000429709;ENST00000450518;ENST00000392662	.	.	.	5.4	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7765	0.51989	0.086:0.0:0.914:0.0	.	.	.	.	S	430;388;388	.	.	X	+	2	2	ACTL6A	180788491	1.000000	0.71417	0.904000	0.35570	0.979000	0.70002	2.996000	0.49449	1.280000	0.44463	0.313000	0.20887	TGA	ACTL6A	-	NULL		0.368	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	G	NM_004301		179305797	+1	no_errors	ENST00000429709	ensembl	human	known	70_37	nonstop	SNP	1.000	C
ACTN4	81	genome.wustl.edu	37	19	39217615	39217615	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:39217615G>A	ENST00000252699.2	+	18	2285	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	ACTN4_ENST00000390009.3_Missense_Mutation_p.E518K|ACTN4_ENST00000424234.2_Missense_Mutation_p.E347K	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	737	Mediates interaction with MICALL2. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGTGGGCTGGGAGCAGCTGCT	0.627																																					Colon(168;199 1940 10254 46213 46384)												0													87.0	65.0	72.0					19																	39217615		2203	4300	6503	SO:0001583	missense	81			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.2209G>A	19.37:g.39217615G>A	ENSP00000252699:p.Glu737Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.E737K	ENST00000252699.2	37	c.2209	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626657	0.87560	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	4.14	4.14	0.48551	.	0.065655	0.64402	N	0.000016	T	0.71829	0.3386	M	0.86953	2.85	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.77874	-0.2425	10	0.59425	D	0.04	.	15.7038	0.77563	0.0:0.0:1.0:0.0	.	737	O43707	ACTN4_HUMAN	K	737;347;518;173	ENSP00000252699:E737K;ENSP00000411187:E347K;ENSP00000439497:E518K;ENSP00000398393:E173K	ENSP00000252699:E737K	E	+	1	0	ACTN4	43909455	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.601000	0.98297	2.294000	0.77228	0.561000	0.74099	GAG	ACTN4	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.627	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	G			39217615	+1	no_errors	ENST00000252699	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTR1A	10121	genome.wustl.edu	37	10	104244060	104244060	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104244060C>T	ENST00000369905.4	-	6	577	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ACTR1A_ENST00000470322.1_5'Flank|ACTR1A_ENST00000487599.1_Missense_Mutation_p.E172K|RP11-18I14.11_ENST00000608017.1_RNA|ACTR1A_ENST00000545684.1_Missense_Mutation_p.E98K|ACTR1A_ENST00000446605.2_Missense_Mutation_p.E125K	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	172					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|microtubule associated complex (GO:0005875)	ATP binding (GO:0005524)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCAAAGCCCTCATAGATGGGC	0.602																																																	0													81.0	68.0	72.0					10																	104244060		2203	4300	6503	SO:0001583	missense	10121			X82206	CCDS7536.1	10q24	2008-07-08	2001-11-28		ENSG00000138107	ENSG00000138107			167	protein-coding gene	gene with protein product		605143	"""ARP1 (actin-related protein 1, yeast) homolog A (centractin alpha)"""			1528266	Standard	NM_005736		Approved	ARP1	uc001kvv.3	P61163	OTTHUMG00000018956	ENST00000369905.4:c.514G>A	10.37:g.104244060C>T	ENSP00000358921:p.Glu172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6B0|P42024	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E172K	ENST00000369905.4	37	c.514	CCDS7536.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.242468	0.95272	.	.	ENSG00000138107	ENST00000369905;ENST00000545684;ENST00000446605	D;D;D	0.95035	-3.59;-3.59;-3.59	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96682	0.8917	M	0.91090	3.175	0.80722	D	1	B	0.16802	0.019	B	0.35607	0.206	D	0.94860	0.8021	10	0.87932	D	0	.	19.7891	0.96450	0.0:1.0:0.0:0.0	.	172	P61163	ACTZ_HUMAN	K	172;98;125	ENSP00000358921:E172K;ENSP00000438890:E98K;ENSP00000406028:E125K	ENSP00000358921:E172K	E	-	1	0	ACTR1A	104234050	1.000000	0.71417	0.991000	0.47740	0.968000	0.65278	7.818000	0.86416	2.692000	0.91855	0.561000	0.74099	GAG	ACTR1A	-	pfam_Actin-like,smart_Actin-like		0.602	ACTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1A	HGNC	protein_coding	OTTHUMT00000050053.1	C			104244060	-1	no_errors	ENST00000369905	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAM23	8745	genome.wustl.edu	37	2	207424741	207424741	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:207424741G>A	ENST00000264377.3	+	11	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_ENST00000374416.1_Silent_p.K356K|ADAM23_ENST00000374415.3_Silent_p.K356K	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	356	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGACTGAGAAGGATCAGATTG	0.507																																					Melanoma(194;1127 2130 19620 24042 27855)												0													127.0	107.0	114.0					2																	207424741		2203	4300	6503	SO:0001819	synonymous_variant	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1068G>A	2.37:g.207424741G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU59	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K356	ENST00000264377.3	37	c.1068	CCDS2369.1	2																																																																																			ADAM23	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.507	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	G	NM_003812		207424741	+1	no_errors	ENST00000264377	ensembl	human	known	70_37	silent	SNP	1.000	A
ADAM28	10863	genome.wustl.edu	37	8	24193049	24193049	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:24193049G>C	ENST00000265769.4	+	14	1572	c.1462G>C	c.(1462-1464)Gat>Cat	p.D488H	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.D255H|ADAM28_ENST00000437154.2_Missense_Mutation_p.D488H|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.D235H|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	488	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TTGTCCTGATGATAGATTCCA	0.502																																					NSCLC(193;488 2149 22258 34798 40734)												0													132.0	122.0	125.0					8																	24193049		2203	4300	6503	SO:0001583	missense	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1462G>C	8.37:g.24193049G>C	ENSP00000265769:p.Asp488His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D488H	ENST00000265769.4	37	c.1462	CCDS34865.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.315156|2.315156	0.40996|0.40996	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154|ENST00000521629	T;T;T;T|.	0.14391|.	2.51;2.51;2.51;2.51|.	5.69|5.69	4.81|4.81	0.61882|0.61882	Blood coagulation inhibitor, Disintegrin (6);|.	.|.	.|.	.|.	.|.	D|.	0.87107|.	0.6095|.	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.999;0.999;0.999;1.0|.	D;D;D;D|.	0.77004|.	0.989;0.964;0.964;0.982|.	D|.	0.90577|.	0.4526|.	9|.	0.87932|.	D|.	0|.	.|.	12.7513|12.7513	0.57310|0.57310	0.0809:0.0:0.9191:0.0|0.0809:0.0:0.9191:0.0	.|.	255;488;488;488|.	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2|.	.;.;ADA28_HUMAN;.|.	H|S	488;235;255;488|120	ENSP00000265769:D488H;ENSP00000380770:D235H;ENSP00000443743:D255H;ENSP00000393699:D488H|.	ENSP00000265769:D488H|.	D|X	+|+	1|2	0|2	ADAM28|ADAM28	24248994|24248994	1.000000|1.000000	0.71417|0.71417	0.026000|0.026000	0.17262|0.17262	0.107000|0.107000	0.19398|0.19398	3.692000|3.692000	0.54727|0.54727	1.370000|1.370000	0.46153|0.46153	0.650000|0.650000	0.86243|0.86243	GAT|TGA	ADAM28	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,prints_Blood-coag_inhib_Disintegrin		0.502	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	G	NM_021778		24193049	+1	no_errors	ENST00000265769	ensembl	human	known	70_37	missense	SNP	0.890	C
ADAM33	80332	genome.wustl.edu	37	20	3649569	3649569	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3649569G>A	ENST00000356518.2	-	0	2724				ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_3'UTR|ADAM33_ENST00000350009.2_3'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33						proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GGCTGTCAGTGGCCACCTGTC	0.527																																																	0													94.0	94.0	94.0					20																	3649569		2203	4300	6503	SO:0001624	3_prime_UTR_variant	80332			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.*41C>T	20.37:g.3649569G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0A1K6|Q5JT75|Q5JT76|Q8N0W6	RNA	SNP	-	NULL	ENST00000356518.2	37	NULL	CCDS13058.1	20																																																																																			ADAM33	-	-		0.527	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	HGNC	protein_coding	OTTHUMT00000077763.2	G	NM_025220		3649569	-1	no_errors	ENST00000466620	ensembl	human	known	70_37	rna	SNP	0.109	A
ADAMTS12	81792	genome.wustl.edu	37	5	33616118	33616118	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:33616118C>T	ENST00000504830.1	-	15	2538	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E650K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	735	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGCTCCCTCAATTTCCATC	0.448										HNSCC(64;0.19)																																							0													106.0	101.0	103.0					5																	33616118		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2203G>A	5.37:g.33616118C>T	ENSP00000422554:p.Glu735Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E735K	ENST00000504830.1	37	c.2203	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857104	0.32791	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.49720	0.77;0.77	5.51	3.5	0.40072	ADAM-TS Spacer 1 (1);	0.294225	0.36854	N	0.002361	T	0.29321	0.0730	N	0.17838	0.53	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.15484	0.004;0.013	T	0.04915	-1.0918	10	0.30854	T	0.27	.	7.6199	0.28179	0.0:0.6405:0.0:0.3595	.	650;735	P58397-3;P58397	.;ATS12_HUMAN	K	735;650	ENSP00000422554:E735K;ENSP00000344847:E650K	ENSP00000344847:E650K	E	-	1	0	ADAMTS12	33651875	0.700000	0.27796	0.976000	0.42696	0.473000	0.32948	1.526000	0.35964	0.458000	0.26988	0.561000	0.74099	GAG	ADAMTS12	-	pfam_ADAM_spacer1		0.448	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33616118	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	0.998	T
ADAMTS14	140766	genome.wustl.edu	37	10	72517796	72517796	+	Missense_Mutation	SNP	G	G	C	rs146237817	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:72517796G>C	ENST00000373207.1	+	20	3016	c.3016G>C	c.(3016-3018)Gag>Cag	p.E1006Q	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E1009Q	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1006	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGGCATTGCGAGGGGGATAG	0.667																																																	0													46.0	43.0	44.0					10																	72517796		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3016G>C	10.37:g.72517796G>C	ENSP00000362303:p.Glu1006Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.E1009Q	ENST00000373207.1	37	c.3025	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063395	0.36373	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.55588	0.51;0.51	4.34	3.44	0.39384	.	0.204718	0.39759	N	0.001270	T	0.49012	0.1532	L	0.33245	0.995	0.30147	N	0.803403	D;P	0.56746	0.977;0.524	P;B	0.55965	0.788;0.27	T	0.43702	-0.9375	10	0.15952	T	0.53	.	8.9173	0.35590	0.0853:0.1498:0.7649:0.0	.	1006;1009	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	Q	1009;1006	ENSP00000362304:E1009Q;ENSP00000362303:E1006Q	ENSP00000362303:E1006Q	E	+	1	0	ADAMTS14	72187802	1.000000	0.71417	0.323000	0.25347	0.308000	0.27856	5.523000	0.67099	1.046000	0.40249	0.561000	0.74099	GAG	ADAMTS14	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.667	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72517796	+1	no_errors	ENST00000373208	ensembl	human	known	70_37	missense	SNP	0.953	C
ADAMTS16	170690	genome.wustl.edu	37	5	5222971	5222971	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:5222971G>A	ENST00000274181.7	+	11	1813	c.1675G>A	c.(1675-1677)Gaa>Aaa	p.E559K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.E559K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	559	Disintegrin.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCAGCAGCAGAAGGCACAAT	0.418																																																	0													117.0	111.0	113.0					5																	5222971		1993	4176	6169	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1675G>A	5.37:g.5222971G>A	ENSP00000274181:p.Glu559Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.E559K	ENST00000274181.7	37	c.1675	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.502150	0.96371	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.68025	-0.3;-0.3	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85906	0.5806	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.80764	0.877;0.994;0.987	D	0.88838	0.3310	10	0.87932	D	0	.	18.1844	0.89788	0.0:0.0:1.0:0.0	.	559;559;559	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	K	559	ENSP00000274181:E559K;ENSP00000421631:E559K	ENSP00000274181:E559K	E	+	1	0	ADAMTS16	5275971	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	8.574000	0.90763	2.579000	0.87056	0.655000	0.94253	GAA	ADAMTS16	-	NULL		0.418	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5222971	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS5	11096	genome.wustl.edu	37	21	28304448	28304448	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:28304448C>A	ENST00000284987.5	-	6	2045	c.1924G>T	c.(1924-1926)Gat>Tat	p.D642Y	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	642	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCTTTTGCATCAGACTGATAG	0.438																																					Esophageal Squamous(53;683 1080 10100 14424 45938)												0													134.0	114.0	121.0					21																	28304448		2203	4300	6503	SO:0001583	missense	11096			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1924G>T	21.37:g.28304448C>A	ENSP00000284987:p.Asp642Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.D642Y	ENST00000284987.5	37	c.1924	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252066	0.80135	.	.	ENSG00000154736	ENST00000284987	T	0.03553	3.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	M	0.78049	2.395	0.58432	D	0.999999	D	0.76494	0.999	D	0.63488	0.915	T	0.00054	-1.2184	10	0.66056	D	0.02	.	19.7635	0.96333	0.0:1.0:0.0:0.0	.	642	Q9UNA0	ATS5_HUMAN	Y	642	ENSP00000284987:D642Y	ENSP00000284987:D642Y	D	-	1	0	ADAMTS5	27226319	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.445000	0.80570	2.669000	0.90835	0.655000	0.94253	GAT	ADAMTS5	-	NULL		0.438	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	C			28304448	-1	no_errors	ENST00000284987	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAMTS8	11095	genome.wustl.edu	37	11	130275551	130275551	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:130275551C>T	ENST00000257359.6	-	9	3278	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	858	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCCTGCACTCTACAGTTCGC	0.647																																																	0													52.0	63.0	59.0					11																	130275551		2011	4179	6190	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.2572G>A	11.37:g.130275551C>T	ENSP00000257359:p.Glu858Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZS0	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS	p.E858K	ENST00000257359.6	37	c.2572	CCDS41732.1	11	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281769	0.59758	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.52295	0.67	5.35	4.43	0.53597	.	0.145903	0.64402	D	0.000012	T	0.44265	0.1285	L	0.33624	1.015	0.58432	D	0.999991	B;P	0.38473	0.142;0.633	B;P	0.46389	0.216;0.515	T	0.17561	-1.0365	10	0.08381	T	0.77	.	16.0373	0.80640	0.0:0.8653:0.1347:0.0	.	858;339	Q9UP79;B3KVX9	ATS8_HUMAN;.	K	256;858;887	ENSP00000257359:E858K	ENSP00000257359:E858K	E	-	1	0	ADAMTS8	129780761	1.000000	0.71417	0.998000	0.56505	0.437000	0.31866	5.785000	0.68998	1.236000	0.43740	0.591000	0.81541	GAG	ADAMTS8	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.647	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS8	HGNC	protein_coding	OTTHUMT00000385636.1	C	NM_007037		130275551	-1	no_errors	ENST00000257359	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150529705	150529705	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:150529705G>C	ENST00000369038.2	+	10	2142	c.1941G>C	c.(1939-1941)cgG>cgC	p.R647R	ADAMTSL4_ENST00000271643.4_Silent_p.R647R|ADAMTSL4_ENST00000369041.5_Silent_p.R647R|ADAMTSL4_ENST00000369039.5_Silent_p.R670R|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	647	Pro-rich. {ECO:0000255}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTCAGGTGCGGATCCCCCAGA	0.692																																																	0													16.0	19.0	18.0					1																	150529705		2200	4298	6498	SO:0001819	synonymous_variant	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1941G>C	1.37:g.150529705G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.R670	ENST00000369038.2	37	c.2010	CCDS955.1	1																																																																																			ADAMTSL4	-	NULL		0.692	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	G	NM_019032		150529705	+1	no_errors	ENST00000369039	ensembl	human	known	70_37	silent	SNP	1.000	C
ADAMTSL4	54507	genome.wustl.edu	37	1	150530005	150530005	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:150530005G>C	ENST00000369038.2	+	11	2284	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.E695Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E695Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E718Q|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	695					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATCTCCCGTGAGTCGGGAGA	0.652																																																	0													21.0	22.0	21.0					1																	150530005		2203	4300	6503	SO:0001583	missense	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2083G>C	1.37:g.150530005G>C	ENSP00000358034:p.Glu695Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.E718Q	ENST00000369038.2	37	c.2152	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928189	0.73327	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.72	4.75	0.60458	.	.	.	.	.	T	0.28134	0.0694	N	0.16602	0.42	0.35988	D	0.836462	P;P;P;D	0.53462	0.856;0.731;0.856;0.96	B;B;B;P	0.46585	0.424;0.395;0.424;0.521	T	0.02805	-1.1108	9	0.12103	T	0.63	.	11.9346	0.52866	0.0:0.1746:0.8254:0.0	.	656;718;695;695	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Q	695;695;233;718;695	ENSP00000358037:E695Q;ENSP00000271643:E695Q;ENSP00000358035:E718Q;ENSP00000358034:E695Q	ENSP00000271643:E695Q	E	+	1	0	ADAMTSL4	148796629	0.990000	0.36364	0.997000	0.53966	0.985000	0.73830	2.208000	0.42797	2.728000	0.93425	0.650000	0.86243	GAG	ADAMTSL4	-	superfamily_Thrombospondin_1_rpt		0.652	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	G	NM_019032		150530005	+1	no_errors	ENST00000369039	ensembl	human	known	70_37	missense	SNP	0.999	C
ADCY1	107	genome.wustl.edu	37	7	45717777	45717777	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:45717777C>T	ENST00000297323.7	+	10	1835	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	605					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACCAGCTTCAGGACGAGTA	0.527																																																	0													206.0	190.0	196.0					7																	45717777		2203	4300	6503	SO:0001587	stop_gained	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1813C>T	7.37:g.45717777C>T	ENSP00000297323:p.Gln605*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2L8|Q75MI1	Nonsense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.Q605*	ENST00000297323.7	37	c.1813	CCDS34631.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.102774	0.98066	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	.	.	.	5.02	5.02	0.67125	.	0.205910	0.44285	D	0.000473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.194	0.82011	0.0:1.0:0.0:0.0	.	.	.	.	X	605	.	ENSP00000297323:Q605X	Q	+	1	0	ADCY1	45684302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.216000	0.42871	2.482000	0.83794	0.655000	0.94253	CAG	ADCY1	-	NULL		0.527	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45717777	+1	no_errors	ENST00000297323	ensembl	human	known	70_37	nonsense	SNP	0.998	T
ADCY1	107	genome.wustl.edu	37	7	45726197	45726197	+	Silent	SNP	C	C	G	rs148089389	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:45726197C>G	ENST00000297323.7	+	14	2401	c.2379C>G	c.(2377-2379)ctC>ctG	p.L793L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	793					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCATCCTGCTCTTCTCCTGTG	0.627																																																	0								C		0,4406		0,0,2203	52.0	50.0	51.0		2379	-1.1	1.0	7	dbSNP_134	51	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ADCY1	NM_021116.2		0,4,6499	GG,GC,CC		0.0465,0.0,0.0308		793/1120	45726197	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	107			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2379C>G	7.37:g.45726197C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2L8|Q75MI1	Silent	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L793	ENST00000297323.7	37	c.2379	CCDS34631.1	7																																																																																			ADCY1	-	NULL		0.627	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY1	HGNC	protein_coding	OTTHUMT00000340055.2	C	NM_021116		45726197	+1	no_errors	ENST00000297323	ensembl	human	known	70_37	silent	SNP	0.960	G
ADCY10	55811	genome.wustl.edu	37	1	167839599	167839599	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:167839599C>G	ENST00000367851.4	-	14	1696	c.1512G>C	c.(1510-1512)ttG>ttC	p.L504F	ADCY10_ENST00000367848.1_Missense_Mutation_p.L412F|ADCY10_ENST00000545172.1_Missense_Mutation_p.L351F	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	504					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGTTAGATATCAAAAATTTCT	0.328																																																	0													89.0	84.0	86.0					1																	167839599		2203	4300	6503	SO:0001583	missense	55811			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1512G>C	1.37:g.167839599C>G	ENSP00000356825:p.Leu504Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase	p.L504F	ENST00000367851.4	37	c.1512	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495350	0.26774	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.35605	1.32;1.31;1.3	5.71	2.71	0.32032	.	0.299822	0.22859	N	0.054772	T	0.37489	0.1005	M	0.72894	2.215	0.32291	N	0.5663199999999999	D;D;D	0.71674	0.998;0.996;0.994	D;D;P	0.69142	0.962;0.931;0.854	T	0.33548	-0.9864	9	0.56958	D	0.05	-7.3136	4.548	0.12090	0.1578:0.6069:0.1523:0.0829	.	351;412;504	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	F	351;504;412	ENSP00000441992:L351F;ENSP00000356825:L504F;ENSP00000356822:L412F	ENSP00000356822:L412F	L	-	3	2	ADCY10	166106223	0.126000	0.22350	0.434000	0.26772	0.013000	0.08279	0.717000	0.25851	0.753000	0.32945	-0.181000	0.13052	TTG	ADCY10	-	pirsf_Adenylate_cylcase_typ10		0.328	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	HGNC	protein_coding	OTTHUMT00000083663.1	C	NM_018417		167839599	-1	no_errors	ENST00000367851	ensembl	human	known	70_37	missense	SNP	0.130	G
ADCY5	111	genome.wustl.edu	37	3	123008634	123008634	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:123008634G>C	ENST00000462833.1	-	19	4707	c.3495C>G	c.(3493-3495)atC>atG	p.I1165M	ADCY5_ENST00000309879.5_Missense_Mutation_p.I815M|ADCY5_ENST00000491190.1_Missense_Mutation_p.I823M	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1165	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTGCTCATTGATGTACTTCA	0.582																																																	0													160.0	144.0	149.0					3																	123008634		2203	4300	6503	SO:0001583	missense	111			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3495C>G	3.37:g.123008634G>C	ENSP00000419361:p.Ile1165Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I1165M	ENST00000462833.1	37	c.3495	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655068	0.67472	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.31769	1.48;1.48;1.48	5.13	4.26	0.50523	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.139063	0.45867	D	0.000334	T	0.45895	0.1365	M	0.62723	1.935	0.52501	D	0.999953	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.988	T	0.48281	-0.9049	10	0.87932	D	0	.	3.718	0.08445	0.2205:0.0:0.5891:0.1904	.	1165;823	O95622;B3KWA8	ADCY5_HUMAN;.	M	1165;823;815	ENSP00000419361:I1165M;ENSP00000418537:I823M;ENSP00000308685:I815M	ENSP00000308685:I815M	I	-	3	3	ADCY5	124491324	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.844000	0.48246	1.388000	0.46506	0.555000	0.69702	ATC	ADCY5	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	G	XM_171048		123008634	-1	no_errors	ENST00000462833	ensembl	human	known	70_37	missense	SNP	1.000	C
ADD1	118	genome.wustl.edu	37	4	2886370	2886370	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2886370C>T	ENST00000398129.1	+	3	507	c.487C>T	c.(487-489)Cag>Tag	p.Q163*	ADD1_ENST00000398125.1_Nonsense_Mutation_p.Q163*|ADD1_ENST00000355842.3_Nonsense_Mutation_p.Q163*|ADD1_ENST00000398123.2_Nonsense_Mutation_p.Q163*|ADD1_ENST00000446856.1_Nonsense_Mutation_p.Q163*|ADD1_ENST00000264758.7_Nonsense_Mutation_p.Q163*|ADD1_ENST00000503455.2_Nonsense_Mutation_p.Q163*|ADD1_ENST00000513328.2_Nonsense_Mutation_p.Q163*			P35611	ADDA_HUMAN	adducin 1 (alpha)	163					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGGTGGTCTCAGCTTATCTA	0.383																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													189.0	189.0	189.0					4																	2886370		2203	4300	6503	SO:0001587	stop_gained	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.487C>T	4.37:g.2886370C>T	ENSP00000381197:p.Gln163*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Nonsense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.Q163*	ENST00000398129.1	37	c.487	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	C	44	10.906542	0.99486	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	.	.	.	5.33	5.33	0.75918	.	0.055388	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.1645	19.215	0.93772	0.0:1.0:0.0:0.0	.	.	.	.	X	163	.	ENSP00000264758:Q163X	Q	+	1	0	ADD1	2856168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.779000	0.62375	2.777000	0.95525	0.655000	0.94253	CAG	ADD1	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N		0.383	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2886370	+1	no_errors	ENST00000264758	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ADD3	120	genome.wustl.edu	37	10	111884032	111884032	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:111884032G>A	ENST00000356080.4	+	10	1768	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	ADD3_ENST00000360162.3_Splice_Site_p.T467T|ADD3_ENST00000277900.8_Splice_Site_p.T467T	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	467						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		CCAAAATCACGGTATGCCAGT	0.353																																																	0													78.0	77.0	77.0					10																	111884032		2203	4300	6503	SO:0001630	splice_region_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1401+1G>A	10.37:g.111884032G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.T467	ENST00000356080.4	37	c.1401	CCDS7561.1	10																																																																																			ADD3	-	NULL		0.353	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	G	NM_019903	Silent	111884032	+1	no_errors	ENST00000356080	ensembl	human	known	70_37	silent	SNP	0.998	A
ADRA2B	151	genome.wustl.edu	37	2	96781784	96781784	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:96781784C>T	ENST00000409345.3	-	1	200	c.105G>A	c.(103-105)ctG>ctA	p.L35L		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	35					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCAACACAGCCAGGATGACCA	0.632																																																	0													28.0	36.0	34.0					2																	96781784		2191	4295	6486	SO:0001819	synonymous_variant	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.105G>A	2.37:g.96781784C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A2B,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.L35	ENST00000409345.3	37	c.105	CCDS56129.1	2																																																																																			ADRA2B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.632	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2B	HGNC	protein_coding	OTTHUMT00000334990.1	C			96781784	-1	no_errors	ENST00000409345	ensembl	human	known	70_37	silent	SNP	1.000	T
ADRB2	154	genome.wustl.edu	37	5	148207390	148207390	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:148207390C>T	ENST00000305988.4	+	1	1235	c.996C>T	c.(994-996)ttC>ttT	p.F332F		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	332					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	GCCCAGATTTCAGGATTGCCT	0.498																																																	0													67.0	67.0	67.0					5																	148207390		2203	4300	6503	SO:0001819	synonymous_variant	154			AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.996C>T	5.37:g.148207390C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrgc_rcpt_B2,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.F332	ENST00000305988.4	37	c.996	CCDS4292.1	5																																																																																			ADRB2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt		0.498	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRB2	HGNC	protein_coding	OTTHUMT00000252189.1	C	NM_000024		148207390	+1	no_errors	ENST00000305988	ensembl	human	known	70_37	silent	SNP	1.000	T
AGER	177	genome.wustl.edu	37	6	32148988	32148988	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:32148988C>G	ENST00000375076.4	-	11	1248	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.E273Q|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.G331A|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375070.3_Missense_Mutation_p.E414Q	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	383	Poly-Glu.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						GCACGCTCCTCCTCTTCCTCC	0.602																																																	0													156.0	165.0	162.0					6																	32148988		2203	4300	6503	SO:0001583	missense	177			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1147G>C	6.37:g.32148988C>G	ENSP00000364217:p.Glu383Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E414Q	ENST00000375076.4	37	c.1240	CCDS4746.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.998494|3.998494	0.74818|0.74818	.|.	.|.	ENSG00000204305|ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059|ENST00000375067	T;T;T|D	0.40225|0.86694	1.04;1.04;1.04|-2.16	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000016|.	T|T	0.79822|0.79822	0.4512|0.4512	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D;D|P	0.89917|0.43094	1.0;0.998;1.0;0.998|0.799	D;D;D;D|P	0.91635|0.44647	0.999;0.991;0.994;0.991|0.456	D|D	0.84142|0.84142	0.0418|0.0418	10|9	0.87932|0.87932	D|D	0|0	-26.0128|-26.0128	14.4774|14.4774	0.67557|0.67557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	273;369;399;383|331	A8MS87;Q3L1R5;Q3L1R8;Q15109|Q15109-2	.;.;.;RAGE_HUMAN|.	Q|A	383;414;132;273;112|331	ENSP00000364217:E383Q;ENSP00000364211:E414Q;ENSP00000364210:E273Q|ENSP00000364208:G331A	ENSP00000364199:E112Q|ENSP00000364208:G331A	E|G	-|-	1|2	0|0	AGER|AGER	32256966|32256966	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	4.269000|4.269000	0.58890|0.58890	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAG|GGA	AGER	-	NULL		0.602	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	HGNC	protein_coding	OTTHUMT00000076200.1	C	NM_001136		32148988	-1	no_errors	ENST00000375070	ensembl	human	known	70_37	missense	SNP	1.000	G
AGER	177	genome.wustl.edu	37	6	32149006	32149006	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:32149006C>T	ENST00000375076.4	-	11	1230	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.E267K|AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.R325K|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375070.3_Missense_Mutation_p.E408K	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	377					cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTGGTTTTCTGGGGCCTTC	0.607																																																	0													135.0	145.0	141.0					6																	32149006		2203	4300	6503	SO:0001583	missense	177			M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.1129G>A	6.37:g.32149006C>T	ENSP00000364217:p.Glu377Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E408K	ENST00000375076.4	37	c.1222	CCDS4746.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.76|16.76	3.211169|3.211169	0.58343|0.58343	.|.	.|.	ENSG00000204305|ENSG00000204305	ENST00000375076;ENST00000375070;ENST00000546237;ENST00000375069;ENST00000375059|ENST00000375067	T;T;T|D	0.38887|0.84944	1.11;1.11;1.11|-1.92	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.67287|0.67287	0.2877|0.2877	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D;D|P	0.76494|0.37330	0.999;0.993;0.999;0.993|0.59	D;D;D;D|B	0.87578|0.32465	0.998;0.978;0.991;0.978|0.146	T|T	0.69815|0.69815	-0.5043|-0.5043	10|8	0.62326|.	D|.	0.03|.	-19.1327|-19.1327	14.4774|14.4774	0.67557|0.67557	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	267;363;393;377|325	A8MS87;Q3L1R5;Q3L1R8;Q15109|Q15109-2	.;.;.;RAGE_HUMAN|.	K|K	377;408;126;267;106|325	ENSP00000364217:E377K;ENSP00000364211:E408K;ENSP00000364210:E267K|ENSP00000364208:R325K	ENSP00000364199:E106K|.	E|R	-|-	1|2	0|0	AGER|AGER	32256984|32256984	0.994000|0.994000	0.37717|0.37717	0.986000|0.986000	0.45419|0.45419	0.883000|0.883000	0.51084|0.51084	4.269000|4.269000	0.58890|0.58890	2.481000|2.481000	0.83766|0.83766	0.563000|0.563000	0.77884|0.77884	GAA|AGA	AGER	-	NULL		0.607	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGER	HGNC	protein_coding	OTTHUMT00000076200.1	C	NM_001136		32149006	-1	no_errors	ENST00000375070	ensembl	human	known	70_37	missense	SNP	0.647	T
AGGF1	55109	genome.wustl.edu	37	5	76331488	76331488	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:76331488G>C	ENST00000312916.7	+	3	818	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	AGGF1_ENST00000503538.1_3'UTR|AGGF1_ENST00000506806.1_Missense_Mutation_p.E146Q	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	146					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TTTACAAGTAGAAAATGATGC	0.338																																																	0													91.0	93.0	92.0					5																	76331488		2203	4299	6502	SO:0001583	missense	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.436G>C	5.37:g.76331488G>C	ENSP00000316109:p.Glu146Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.E146Q	ENST00000312916.7	37	c.436	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	G	15.81	2.942150	0.53079	.	.	ENSG00000164252	ENST00000312916;ENST00000506806	T;T	0.80393	1.19;-1.37	5.96	5.96	0.96718	.	0.706711	0.14398	N	0.322066	T	0.81108	0.4754	L	0.40543	1.245	0.20196	N	0.999929	B;D	0.57257	0.201;0.979	B;P	0.52957	0.063;0.714	T	0.70908	-0.4744	10	0.12766	T	0.61	-6.5197	17.5751	0.87946	0.0:0.0:1.0:0.0	.	146;146	Q8N302;Q8N302-3	AGGF1_HUMAN;.	Q	146	ENSP00000316109:E146Q;ENSP00000424733:E146Q	ENSP00000316109:E146Q	E	+	1	0	AGGF1	76367244	0.026000	0.19158	0.600000	0.28864	0.058000	0.15608	0.841000	0.27613	2.831000	0.97527	0.650000	0.86243	GAA	AGGF1	-	NULL		0.338	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	HGNC	protein_coding	OTTHUMT00000219971.2	G	NM_018046		76331488	+1	no_errors	ENST00000312916	ensembl	human	known	70_37	missense	SNP	0.521	C
AGPAT5	55326	genome.wustl.edu	37	8	6614722	6614722	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:6614722G>A	ENST00000285518.6	+	8	1220	c.908G>A	c.(907-909)aGa>aAa	p.R303K		NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	303					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GATCCAGAAAGAAGAAAAAGA	0.323																																																	0													50.0	51.0	50.0					8																	6614722		2203	4300	6503	SO:0001583	missense	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.908G>A	8.37:g.6614722G>A	ENSP00000285518:p.Arg303Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.R303K	ENST00000285518.6	37	c.908	CCDS34796.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.43|15.43	2.832576|2.832576	0.50845|0.50845	.|.	.|.	ENSG00000155189|ENSG00000155189	ENST00000518327|ENST00000285518	.|T	.|0.63417	.|-0.04	6.04|6.04	5.16|5.16	0.70880|0.70880	.|.	.|0.131589	.|0.64402	.|D	.|0.000001	T|T	0.39655|0.39655	0.1086|0.1086	N|N	0.19112|0.19112	0.55|0.55	0.43164|0.43164	D|D	0.99495|0.99495	.|B	.|0.02656	.|0.0	.|B	.|0.06405	.|0.002	T|T	0.28618|0.28618	-1.0038|-1.0038	5|10	.|0.02654	.|T	.|1	-2.203|-2.203	9.7015|9.7015	0.40189|0.40189	0.1558:0.0:0.8442:0.0|0.1558:0.0:0.8442:0.0	.|.	.|303	.|Q9NUQ2	.|PLCE_HUMAN	K|K	120|303	.|ENSP00000285518:R303K	.|ENSP00000285518:R303K	E|R	+|+	1|2	0|0	AGPAT5|AGPAT5	6602130|6602130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.069000|5.069000	0.64370|0.64370	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAA|AGA	AGPAT5	-	NULL		0.323	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT5	HGNC	protein_coding	OTTHUMT00000374684.1	G	NM_018361		6614722	+1	no_errors	ENST00000285518	ensembl	human	known	70_37	missense	SNP	1.000	A
AJUBA	84962	genome.wustl.edu	37	14	23445862	23445862	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23445862C>G	ENST00000262713.2	-	3	1543	c.1168G>C	c.(1168-1170)Gat>Cat	p.D390H	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.D390H|AJUBA_ENST00000397388.3_5'UTR	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	390	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ACCAGATAATCTTCCTCACAG	0.498																																																	0													150.0	137.0	142.0					14																	23445862		2203	4300	6503	SO:0001583	missense	84962			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1168G>C	14.37:g.23445862C>G	ENSP00000262713:p.Asp390His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX18|D3DS37	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D390H	ENST00000262713.2	37	c.1168	CCDS9581.1	14	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545981	0.86022	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	D;D	0.88975	-2.45;-2.45	5.74	5.74	0.90152	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.88916	0.6567	L	0.41824	1.3	0.80722	D	1	P	0.41848	0.763	P	0.48304	0.573	D	0.88313	0.2957	10	0.45353	T	0.12	.	17.4218	0.87517	0.0:1.0:0.0:0.0	.	390	Q96IF1	JUB_HUMAN	H	390	ENSP00000262713:D390H;ENSP00000354491:D390H	ENSP00000262713:D390H	D	-	1	0	JUB	22515702	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.111000	0.77077	2.715000	0.92844	0.655000	0.94253	GAT	AJUBA	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.498	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	C			23445862	-1	no_errors	ENST00000262713	ensembl	human	known	70_37	missense	SNP	1.000	G
AJUBA	84962	genome.wustl.edu	37	14	23451250	23451250	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23451250G>A	ENST00000262713.2	-	1	601	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q76*|RP11-298I3.4_ENST00000557615.1_RNA|RP11-298I3.4_ENST00000556503.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	76	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										GAGCCGCGCTGATTTCGCTCA	0.687																																																	0													16.0	19.0	18.0					14																	23451250		2197	4291	6488	SO:0001587	stop_gained	84962			AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.226C>T	14.37:g.23451250G>A	ENSP00000262713:p.Gln76*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX18|D3DS37	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q76*	ENST00000262713.2	37	c.226	CCDS9581.1	14	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428651	0.43122	.	.	ENSG00000129474	ENST00000262713;ENST00000361265	.	.	.	4.87	3.01	0.34805	.	1.665720	0.03430	N	0.207694	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	8.0601	0.30627	0.091:0.1674:0.7416:0.0	.	.	.	.	X	76	.	ENSP00000262713:Q76X	Q	-	1	0	JUB	22521090	1.000000	0.71417	0.913000	0.36048	0.033000	0.12548	2.131000	0.42074	0.627000	0.30340	-0.258000	0.10820	CAG	AJUBA	-	NULL		0.687	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AJUBA	HGNC	protein_coding	OTTHUMT00000071685.2	G			23451250	-1	no_errors	ENST00000262713	ensembl	human	known	70_37	nonsense	SNP	0.141	A
AK7	122481	genome.wustl.edu	37	14	96944801	96944801	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:96944801G>C	ENST00000267584.4	+	15	1599		c.e15-1			NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7						axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCCCCAGAATTCGTTTG	0.557																																																	0													116.0	109.0	112.0					14																	96944801		2203	4300	6503	SO:0001630	splice_region_variant	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1556-1G>C	14.37:g.96944801G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYP6	Splice_Site	SNP	-	e15-1	ENST00000267584.4	37	c.1556-1	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297186	0.81025	.	.	ENSG00000140057	ENST00000267584	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3825	0.90455	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AK7	96014554	1.000000	0.71417	0.941000	0.38009	0.864000	0.49448	9.465000	0.97660	2.340000	0.79590	0.491000	0.48974	.	AK7	-	-		0.557	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G		Intron	96944801	+1	no_errors	ENST00000267584	ensembl	human	known	70_37	splice_site	SNP	1.000	C
AK7	122481	genome.wustl.edu	37	14	96944935	96944935	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:96944935C>T	ENST00000267584.4	+	15	1733	c.1689C>T	c.(1687-1689)atC>atT	p.I563I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	563	Adenylate kinase.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACCGGGACATCAATATCGACG	0.458																																																	0													98.0	86.0	90.0					14																	96944935		2203	4300	6503	SO:0001819	synonymous_variant	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.1689C>T	14.37:g.96944935C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYP6	Silent	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.I563	ENST00000267584.4	37	c.1689	CCDS9945.1	14																																																																																			AK7	-	NULL		0.458	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	C			96944935	+1	no_errors	ENST00000267584	ensembl	human	known	70_37	silent	SNP	0.004	T
AHNAK2	113146	genome.wustl.edu	37	14	105409512	105409512	+	Silent	SNP	C	C	T	rs369701416		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105409512C>T	ENST00000333244.5	-	7	12395	c.12276G>A	c.(12274-12276)gtG>gtA	p.V4092V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4092						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGACATCTTCACATCAGGGG	0.602																																																	0													177.0	178.0	178.0					14																	105409512		1897	4119	6016	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12276G>A	14.37:g.105409512C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V4092	ENST00000333244.5	37	c.12276	CCDS45177.1	14																																																																																			AHNAK2	-	NULL		0.602	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	C	NM_138420		105409512	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	silent	SNP	0.001	T
AKAP13	11214	genome.wustl.edu	37	15	86128965	86128965	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:86128965G>C	ENST00000394518.2	+	8	4167	c.4072G>C	c.(4072-4074)Gat>Cat	p.D1358H	AKAP13_ENST00000361243.2_Missense_Mutation_p.D1358H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1358					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGATGAAGTGGATTTTAGAGC	0.438																																					Melanoma(94;603 1453 3280 32295 32951)												0													120.0	114.0	116.0					15																	86128965		2202	4299	6501	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4072G>C	15.37:g.86128965G>C	ENSP00000378026:p.Asp1358His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.D1358H	ENST00000394518.2	37	c.4072	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	G	19.16	3.772894	0.69992	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.57436	0.4;0.4	5.77	4.86	0.63082	.	.	.	.	.	T	0.69269	0.3092	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.72347	-0.4321	9	0.87932	D	0	.	10.7507	0.46207	0.0874:0.0:0.9126:0.0	.	1358;1358	Q12802;Q12802-2	AKP13_HUMAN;.	H	1358;1358;1357;1357	ENSP00000354718:D1358H;ENSP00000378026:D1358H	ENSP00000354718:D1358H	D	+	1	0	AKAP13	83929969	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.668000	0.54554	1.450000	0.47717	0.591000	0.81541	GAT	AKAP13	-	NULL		0.438	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	G	NM_007200		86128965	+1	no_errors	ENST00000361243	ensembl	human	known	70_37	missense	SNP	1.000	C
AKR1B15	441282	genome.wustl.edu	37	7	134261723	134261723	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:134261723C>T	ENST00000457545.2	+	10	1094	c.834C>T	c.(832-834)atC>atT	p.I278I	AKR1B15_ENST00000423958.1_Silent_p.I250I	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	278							oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGGTTCTGATCCGTTTCCATA	0.478																																																	0													182.0	175.0	177.0					7																	134261723		2203	4300	6503	SO:0001819	synonymous_variant	441282				CCDS47715.1, CCDS47715.2	7q33	2009-09-09			ENSG00000227471	ENSG00000227471		"""Aldo-keto reductases"""	37281	protein-coding gene	gene with protein product							Standard	NM_001080538		Approved		uc011kpr.2	C9JRZ8	OTTHUMG00000155376	ENST00000457545.2:c.834C>T	7.37:g.134261723C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J3V2	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.I250	ENST00000457545.2	37	c.750	CCDS47715.2	7																																																																																			AKR1B15	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr		0.478	AKR1B15-001	PUTATIVE	basic|CCDS	protein_coding	AKR1B15	HGNC	protein_coding	OTTHUMT00000339726.2	C			134261723	+1	no_errors	ENST00000423958	ensembl	human	known	70_37	silent	SNP	0.998	T
AKR1D1	6718	genome.wustl.edu	37	7	137773510	137773510	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:137773510G>C	ENST00000242375.3	+	2	299	c.257G>C	c.(256-258)gGa>gCa	p.G86A	RN7SKP223_ENST00000410582.1_RNA|AKR1D1_ENST00000411726.2_Missense_Mutation_p.G86A|AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.G86A	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	86					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTCTACTGTGGAAAGGTGAGA	0.468																																																	0													75.0	68.0	70.0					7																	137773510		2203	4300	6503	SO:0001583	missense	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.257G>C	7.37:g.137773510G>C	ENSP00000242375:p.Gly86Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4P6|A8K060|B4DPN3|B4DPN8	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.G86A	ENST00000242375.3	37	c.257	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892947	0.33442	.	.	ENSG00000122787	ENST00000432161;ENST00000411726;ENST00000242375	T;T;T	0.49432	0.78;0.78;0.78	5.2	1.3	0.21679	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.53012	0.1770	L	0.34521	1.04	0.42608	D	0.993309	D;D;D	0.89917	1.0;1.0;0.975	D;D;P	0.97110	1.0;1.0;0.663	T	0.51513	-0.8696	10	0.87932	D	0	.	9.6354	0.39804	0.0766:0.4042:0.5192:0.0	.	86;86;86	B4DPN8;B4DPN3;P51857	.;.;AK1D1_HUMAN	A	86	ENSP00000389197:G86A;ENSP00000402374:G86A;ENSP00000242375:G86A	ENSP00000242375:G86A	G	+	2	0	AKR1D1	137424050	1.000000	0.71417	0.094000	0.20943	0.108000	0.19459	8.472000	0.90407	0.056000	0.16144	-0.195000	0.12781	GGA	AKR1D1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom		0.468	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	G	NM_005989		137773510	+1	no_errors	ENST00000242375	ensembl	human	known	70_37	missense	SNP	0.673	C
ALDH16A1	126133	genome.wustl.edu	37	19	49964112	49964112	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:49964112C>T	ENST00000293350.4	+	5	696	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ALDH16A1_ENST00000540132.1_Missense_Mutation_p.S15F|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.S178F|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.S13F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	178						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CCCACATTCTCCTTCCTTGAG	0.537																																																	0													97.0	88.0	91.0					19																	49964112		2203	4299	6502	SO:0001583	missense	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.533C>T	19.37:g.49964112C>T	ENSP00000293350:p.Ser178Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.S178F	ENST00000293350.4	37	c.533	CCDS12766.1	19	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422501	0.62622	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.38	3.19	0.36642	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.350657	0.34133	N	0.004239	T	0.50120	0.1597	M	0.63843	1.955	0.33031	D	0.530151	D;D;D	0.76494	0.99;0.983;0.999	D;P;D	0.72075	0.935;0.876;0.976	T	0.64571	-0.6376	10	0.87932	D	0	-15.1426	12.6876	0.56956	0.0:0.6831:0.3169:0.0	.	15;178;178	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	F	178;178;15;13	ENSP00000293350:S178F;ENSP00000410142:S178F;ENSP00000445088:S15F;ENSP00000398675:S13F	ENSP00000293350:S178F	S	+	2	0	ALDH16A1	54655924	0.999000	0.42202	0.997000	0.53966	0.950000	0.60333	0.965000	0.29319	0.746000	0.32786	-0.291000	0.09656	TCC	ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.537	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	C	NM_153329		49964112	+1	no_errors	ENST00000293350	ensembl	human	known	70_37	missense	SNP	0.999	T
ALDH16A1	126133	genome.wustl.edu	37	19	49965835	49965835	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:49965835C>G	ENST00000293350.4	+	8	1084	c.921C>G	c.(919-921)ctC>ctG	p.L307L	ALDH16A1_ENST00000540132.1_Silent_p.L144L|ALDH16A1_ENST00000455361.2_Silent_p.L256L|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Silent_p.L142L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	307						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AGGGTGGCCTCAGGCTCCTCA	0.592																																																	0													67.0	71.0	69.0					19																	49965835		2203	4300	6503	SO:0001819	synonymous_variant	126133			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.921C>G	19.37:g.49965835C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH	p.L307	ENST00000293350.4	37	c.921	CCDS12766.1	19																																																																																			ALDH16A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH		0.592	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	HGNC	protein_coding	OTTHUMT00000465358.1	C	NM_153329		49965835	+1	no_errors	ENST00000293350	ensembl	human	known	70_37	silent	SNP	1.000	G
ALDH1L1	10840	genome.wustl.edu	37	3	125836938	125836938	+	Missense_Mutation	SNP	G	G	C	rs142947117		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:125836938G>C	ENST00000393434.2	-	17	2241	c.1892C>G	c.(1891-1893)tCc>tGc	p.S631C	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S641C|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S631C|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S530C|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	631	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.S631F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCGACCAGGGAGCCTGTGGG	0.622																																																	1	Substitution - Missense(1)	skin(1)											39.0	38.0	38.0					3																	125836938		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.1892C>G	3.37:g.125836938G>C	ENSP00000377083:p.Ser631Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.S631C	ENST00000393434.2	37	c.1892	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	g	10.24	1.294855	0.23564	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.45	3.55	0.40652	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.299857	0.31897	N	0.006899	D	0.83885	0.5351	M	0.74881	2.28	0.24258	N	0.995296	D;D	0.69078	0.997;0.972	P;P	0.58172	0.829;0.834	T	0.76737	-0.2849	10	0.72032	D	0.01	.	12.0292	0.53388	0.0:0.1762:0.8238:0.0	.	530;631	E9PBX3;O75891	.;AL1L1_HUMAN	C	641;631;530;631	ENSP00000273450:S641C;ENSP00000420293:S631C;ENSP00000395881:S530C;ENSP00000377083:S631C	ENSP00000273450:S641C	S	-	2	0	ALDH1L1	127319628	0.646000	0.27295	0.271000	0.24616	0.001000	0.01503	1.229000	0.32600	1.075000	0.40932	-0.492000	0.04666	TCC	ALDH1L1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH		0.622	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	G	NM_012190		125836938	-1	no_errors	ENST00000393434	ensembl	human	known	70_37	missense	SNP	0.147	C
ALDH1L2	160428	genome.wustl.edu	37	12	105456723	105456723	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:105456723C>T	ENST00000258494.9	-	7	1004	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ALDH1L2_ENST00000424857.2_Silent_p.K288K	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	288					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GACCAGGCTTCTTGGCACCTT	0.403																																																	0													81.0	76.0	78.0					12																	105456723		2203	4300	6503	SO:0001819	synonymous_variant	160428			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.864G>A	12.37:g.105456723C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY68|Q68D62|Q6AI55|Q8N922	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.K288	ENST00000258494.9	37	c.864	CCDS31891.1	12																																																																																			ALDH1L2	-	pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH		0.403	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	C	XM_090294		105456723	-1	no_errors	ENST00000258494	ensembl	human	known	70_37	silent	SNP	0.938	T
ALDH8A1	64577	genome.wustl.edu	37	6	135250315	135250315	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:135250315C>G	ENST00000265605.2	-	6	956	c.888G>C	c.(886-888)caG>caC	p.Q296H	ALDH8A1_ENST00000367845.2_Intron|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.Q246H	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	296					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGATGCTCTTCTGGACAAAGA	0.468																																																	0													71.0	68.0	69.0					6																	135250315		2203	4300	6503	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.888G>C	6.37:g.135250315C>G	ENSP00000265605:p.Gln296His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.Q296H	ENST00000265605.2	37	c.888	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568712	0.45798	.	.	ENSG00000118514	ENST00000265605;ENST00000367847	T;T	0.75589	-0.95;-0.95	5.63	4.57	0.56435	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.048683	0.85682	D	0.000000	T	0.42899	0.1223	N	0.04132	-0.27	0.58432	D	0.999992	B;B	0.14805	0.011;0.011	B;B	0.33121	0.158;0.158	T	0.43556	-0.9384	10	0.37606	T	0.19	.	11.8964	0.52659	0.0:0.8507:0.0:0.1493	.	246;296	B7Z521;Q9H2A2	.;AL8A1_HUMAN	H	296;246	ENSP00000265605:Q296H;ENSP00000356821:Q246H	ENSP00000265605:Q296H	Q	-	3	2	ALDH8A1	135292008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.491000	0.45303	2.668000	0.90789	0.563000	0.77884	CAG	ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.468	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	C			135250315	-1	no_errors	ENST00000265605	ensembl	human	known	70_37	missense	SNP	1.000	G
ALDOA	226	genome.wustl.edu	37	16	30080184	30080184	+	Missense_Mutation	SNP	G	G	T	rs11553108		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30080184G>T	ENST00000566897.1	+	8	1577	c.425G>T	c.(424-426)gGa>gTa	p.G142V	ALDOA_ENST00000395240.3_Missense_Mutation_p.G142V|ALDOA_ENST00000564546.1_Missense_Mutation_p.G142V|ALDOA_ENST00000569798.1_Missense_Mutation_p.G142V|ALDOA_ENST00000563060.2_Missense_Mutation_p.G142V|ALDOA_ENST00000395248.1_Missense_Mutation_p.G196V|ALDOA_ENST00000412304.2_Missense_Mutation_p.G142V|ALDOA_ENST00000564595.2_Missense_Mutation_p.G196V|ALDOA_ENST00000338110.5_Missense_Mutation_p.G142V|ALDOA_ENST00000569545.1_Missense_Mutation_p.G142V			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	142			G -> V (in dbSNP:rs11553108).		actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						AAGAAGGACGGAGCTGACTTC	0.577											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													105.0	99.0	101.0					16																	30080184		2197	4300	6497	SO:0001583	missense	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.425G>T	16.37:g.30080184G>T	ENSP00000455724:p.Gly142Val	Somatic	814	WXS	Illumina HiSeq	Phase_IV	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.G142V	ENST00000566897.1	37	c.425	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704758	0.88924	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44	5.67	5.67	0.87782	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	H	0.98027	4.13	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99023	1.0818	10	0.87932	D	0	.	18.5563	0.91086	0.0:0.0:1.0:0.0	rs11553108;rs11553108	1;24;142	A4UCT0;A4UCS9;P04075	.;.;ALDOA_HUMAN	V	196;142;142;142	ENSP00000378669:G196V;ENSP00000336927:G142V;ENSP00000400452:G142V;ENSP00000378661:G142V	ENSP00000336927:G142V	G	+	2	0	ALDOA	29987685	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	9.807000	0.99171	2.673000	0.90976	0.655000	0.94253	GGA	ALDOA	-	pfam_Aldolase_I		0.577	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	G	NM_000034		30080184	+1	no_errors	ENST00000338110	ensembl	human	known	70_37	missense	SNP	1.000	T
ALDOB	229	genome.wustl.edu	37	9	104184112	104184112	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:104184112G>A	ENST00000374855.4	-	9	1198	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	358					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)	p.F358_Y364delFTACYTY(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGCAGGCTGTGAAGAGCGACT	0.537																																																	1	Deletion - In frame(1)	liver(1)											91.0	89.0	90.0					9																	104184112		2203	4300	6503	SO:0001819	synonymous_variant	229			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.1074C>T	9.37:g.104184112G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13741|Q13742|Q5T7D6	Silent	SNP	pfam_Aldolase_I	p.F358	ENST00000374855.4	37	c.1074	CCDS6756.1	9																																																																																			ALDOB	-	pfam_Aldolase_I		0.537	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	G			104184112	-1	no_errors	ENST00000374855	ensembl	human	known	70_37	silent	SNP	1.000	A
FAM86C1	55199	genome.wustl.edu	37	11	71512892	71512892	+	IGR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:71512892C>G	ENST00000359244.4	+	0	2110				AP002495.1_ENST00000581755.1_RNA	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						GTTTCACCAGCTCATGTAAGC	0.587																																																	0																																										SO:0001628	intergenic_variant	285407			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552		11.37:g.71512892C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5D3	RNA	SNP	-	NULL	ENST00000359244.4	37	NULL	CCDS41686.1	11																																																																																			ALG1L9P	-	-		0.587	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG1L9P	HGNC	protein_coding	OTTHUMT00000361120.1	C	NM_152563		71512892	-1	no_errors	ENST00000532875	ensembl	human	known	70_37	rna	SNP	1.000	G
ALG9	79796	genome.wustl.edu	37	11	111680494	111680494	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111680494C>G	ENST00000531154.1	-	14	1565	c.1093G>C	c.(1093-1095)Gat>Cat	p.D365H	ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.D358H|ALG9_ENST00000527228.1_5'UTR	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	529					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TTACTGATATCAATCTGAAAT	0.393																																																	0													108.0	100.0	102.0					11																	111680494		1836	4079	5915	SO:0001583	missense	79796				CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.1093G>C	11.37:g.111680494C>G	ENSP00000435517:p.Asp365His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.D365H	ENST00000531154.1	37	c.1093	CCDS41714.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.783339|2.783339	0.49891|0.49891	.|.	.|.	ENSG00000086848|ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306|ENST00000532425	D;D|.	0.82984|.	-1.67;-1.67|.	5.96|5.96	4.02|4.02	0.46733|0.46733	.|.	0.267985|.	0.43260|.	D|.	0.000581|.	T|T	0.77322|0.77322	0.4113|0.4113	M|M	0.88377|0.88377	2.95|2.95	0.80722|0.80722	D|D	1|1	P;D;D|.	0.63880|.	0.855;0.993;0.977|.	P;P;P|.	0.58970|.	0.533;0.849;0.789|.	T|T	0.78623|0.78623	-0.2132|-0.2132	10|5	0.66056|.	D|.	0.02|.	-10.8102|-10.8102	10.8703|10.8703	0.46879|0.46879	0.0:0.8386:0.0:0.1614|0.0:0.8386:0.0:0.1614	.|.	358;536;529|.	B4DQI3;Q9H6U8-3;Q9H6U8|.	.;.;ALG9_HUMAN|.	H|F	365;358;762|113	ENSP00000435517:D365H;ENSP00000381090:D358H|.	ENSP00000381090:D358H|.	D|L	-|-	1|3	0|2	ALG9|ALG9	111185704|111185704	1.000000|1.000000	0.71417|0.71417	0.737000|0.737000	0.30932|0.30932	0.192000|0.192000	0.23643|0.23643	3.749000|3.749000	0.55150|0.55150	0.786000|0.786000	0.33708|0.33708	-0.345000|-0.345000	0.07892|0.07892	GAT|TTG	ALG9	-	NULL		0.393	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALG9	HGNC	protein_coding	OTTHUMT00000391485.1	C	NM_024740		111680494	-1	no_errors	ENST00000531154	ensembl	human	known	70_37	missense	SNP	0.992	G
ALPK1	80216	genome.wustl.edu	37	4	113356438	113356438	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:113356438C>G	ENST00000458497.1	+	12	3448	c.3169C>G	c.(3169-3171)Caa>Gaa	p.Q1057E	ALPK1_ENST00000504176.2_Missense_Mutation_p.Q979E|ALPK1_ENST00000177648.9_Missense_Mutation_p.Q1057E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1057	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TCATCTTCATCAAGAAGAAAT	0.378																																																	0													125.0	145.0	138.0					4																	113356438		2203	4300	6503	SO:0001583	missense	80216			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3169C>G	4.37:g.113356438C>G	ENSP00000398048:p.Gln1057Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Q1057E	ENST00000458497.1	37	c.3169	CCDS3697.1	4	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621586	0.87460	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.05717	3.4;3.4;3.4	5.94	5.94	0.96194	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.23806	0.0576	M	0.64997	1.995	0.47214	D	0.999356	D;D;D	0.69078	0.995;0.997;0.996	P;D;P	0.64877	0.847;0.93;0.875	T	0.00009	-1.2459	10	0.56958	D	0.05	-17.7981	20.3594	0.98849	0.0:1.0:0.0:0.0	.	979;979;1057	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	1057;1057;979	ENSP00000398048:Q1057E;ENSP00000177648:Q1057E;ENSP00000426044:Q979E	ENSP00000177648:Q1057E	Q	+	1	0	ALPK1	113575887	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.719000	0.74718	2.816000	0.96949	0.563000	0.77884	CAA	ALPK1	-	pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase		0.378	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK1	HGNC	protein_coding	OTTHUMT00000256421.2	C	NM_025144		113356438	+1	no_errors	ENST00000177648	ensembl	human	known	70_37	missense	SNP	1.000	G
ALPK2	115701	genome.wustl.edu	37	18	56204723	56204723	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:56204723G>A	ENST00000361673.3	-	5	2909	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	899						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCTGTGTGTGAAATGTTCAA	0.502																																																	0													74.0	73.0	73.0					18																	56204723		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.2696C>T	18.37:g.56204723G>A	ENSP00000354991:p.Ser899Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.S899L	ENST00000361673.3	37	c.2696	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040417	0.35989	.	.	ENSG00000198796	ENST00000361673	T	0.43294	0.95	5.57	4.59	0.56863	.	0.874177	0.09938	N	0.736294	T	0.28962	0.0719	L	0.34521	1.04	0.09310	N	1	P;B	0.41393	0.748;0.386	B;B	0.36464	0.225;0.052	T	0.06516	-1.0822	10	0.31617	T	0.26	-2.4797	6.3504	0.21373	0.1517:0.0:0.8483:0.0	.	899;899	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	L	899	ENSP00000354991:S899L	ENSP00000354991:S899L	S	-	2	0	ALPK2	54355703	0.009000	0.17119	0.011000	0.14972	0.011000	0.07611	1.558000	0.36309	2.630000	0.89119	0.591000	0.81541	TCA	ALPK2	-	NULL		0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	G	NM_052947		56204723	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.011	A
AMDHD2	51005	genome.wustl.edu	37	16	2578542	2578542	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2578542C>G	ENST00000293971.6	+	8	1046	c.952C>G	c.(952-954)Ctg>Gtg	p.L318V	CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.L318V|AMDHD2_ENST00000302956.4_Missense_Mutation_p.L318V|AMDHD2_ENST00000565570.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	318					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGTGGACGGTCTGACGGCCTA	0.697																																																	0													49.0	44.0	46.0					16																	2578542		2198	4298	6496	SO:0001583	missense	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.952C>G	16.37:g.2578542C>G	ENSP00000293971:p.Leu318Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL77|Q8WV54	Missense_Mutation	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.L318V	ENST00000293971.6	37	c.952		16	.	.	.	.	.	.	.	.	.	.	C	9.147	1.015190	0.19355	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;T	0.99932	-8.2;-8.2;0.52	5.51	3.57	0.40892	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	L	0.31926	0.97	0.80722	D	1	P;P;P	0.50443	0.935;0.814;0.935	P;P;P	0.55508	0.775;0.777;0.713	D	0.97073	0.9779	10	0.56958	D	0.05	-11.1389	10.97	0.47434	0.0:0.8471:0.0:0.1529	.	318;318;318	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	V	318	ENSP00000391596:L318V;ENSP00000307481:L318V;ENSP00000293971:L318V	ENSP00000293971:L318V	L	+	1	2	AMDHD2	2518543	0.983000	0.35010	0.764000	0.31436	0.098000	0.18820	2.088000	0.41663	0.697000	0.31718	0.655000	0.94253	CTG	AMDHD2	-	pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite		0.697	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	AMDHD2	HGNC	protein_coding	OTTHUMT00000435652.1	C	NM_015944		2578542	+1	no_errors	ENST00000413459	ensembl	human	known	70_37	missense	SNP	1.000	G
ANK2	287	genome.wustl.edu	37	4	114280354	114280354	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:114280354C>T	ENST00000357077.4	+	38	10633	c.10580C>T	c.(10579-10581)tCa>tTa	p.S3527L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3494L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3527					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCGAGCACTCAGTTCCTGAG	0.463																																																	0													110.0	110.0	110.0					4																	114280354		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.10580C>T	4.37:g.114280354C>T	ENSP00000349588:p.Ser3527Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S3527L	ENST00000357077.4	37	c.10580	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608266	0.66558	.	.	ENSG00000145362	ENST00000357077;ENST00000264366;ENST00000505342	T;T;D	0.96745	-0.49;-0.5;-4.11	5.86	5.86	0.93980	.	0.321848	0.22369	N	0.060961	D	0.95522	0.8545	M	0.66939	2.045	0.80722	D	1	P;P	0.46142	0.799;0.873	B;B	0.39660	0.194;0.306	D	0.95064	0.8198	10	0.44086	T	0.13	.	20.1996	0.98256	0.0:1.0:0.0:0.0	.	3494;3527	Q01484;Q01484-4	ANK2_HUMAN;.	L	3527;3494;537	ENSP00000349588:S3527L;ENSP00000264366:S3494L;ENSP00000422498:S537L	ENSP00000264366:S3494L	S	+	2	0	ANK2	114499803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.592000	0.53993	2.776000	0.95493	0.650000	0.86243	TCA	ANK2	-	NULL		0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114280354	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61830231	61830231	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61830231C>G	ENST00000280772.2	-	37	10599	c.10408G>C	c.(10408-10410)Gag>Cag	p.E3470Q	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3470					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCTTTCCCTCCTCCTCGATA	0.453																																																	0													86.0	85.0	85.0					10																	61830231		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10408G>C	10.37:g.61830231C>G	ENSP00000280772:p.Glu3470Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E3470Q	ENST00000280772.2	37	c.10408	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	16.05	3.014093	0.54468	.	.	ENSG00000151150	ENST00000280772	T	0.26957	1.7	5.64	5.64	0.86602	.	0.000000	0.42682	D	0.000675	T	0.45397	0.1340	L	0.48642	1.525	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.06588	-1.0818	10	0.23302	T	0.38	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	3470	Q12955	ANK3_HUMAN	Q	3470	ENSP00000280772:E3470Q	ENSP00000280772:E3470Q	E	-	1	0	ANK3	61500237	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	7.818000	0.86416	2.654000	0.90174	0.563000	0.77884	GAG	ANK3	-	NULL		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61830231	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	G
ANK3	288	genome.wustl.edu	37	10	61835402	61835402	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61835402G>A	ENST00000280772.2	-	37	5428	c.5237C>T	c.(5236-5238)tCt>tTt	p.S1746F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1746	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTAGCAGAAGAAATTTTTTC	0.428																																																	0													55.0	57.0	56.0					10																	61835402		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5237C>T	10.37:g.61835402G>A	ENSP00000280772:p.Ser1746Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.S1746F	ENST00000280772.2	37	c.5237	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784896	0.31593	.	.	ENSG00000151150	ENST00000280772	T	0.65178	-0.14	5.82	5.82	0.92795	.	0.176206	0.27513	N	0.019032	T	0.60261	0.2255	L	0.36672	1.1	0.80722	D	1	B	0.31009	0.303	B	0.35510	0.204	T	0.60525	-0.7246	10	0.72032	D	0.01	.	20.0992	0.97865	0.0:0.0:1.0:0.0	.	1746	Q12955	ANK3_HUMAN	F	1746	ENSP00000280772:S1746F	ENSP00000280772:S1746F	S	-	2	0	ANK3	61505408	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.938000	0.75904	2.762000	0.94881	0.467000	0.42956	TCT	ANK3	-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	G	NM_020987		61835402	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	A
ANK3	288	genome.wustl.edu	37	10	61846553	61846553	+	Silent	SNP	C	C	T	rs372847533		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61846553C>T	ENST00000280772.2	-	30	3821	c.3630G>A	c.(3628-3630)cgG>cgA	p.R1210R	ANK3_ENST00000503366.1_Silent_p.R1211R|ANK3_ENST00000355288.2_Silent_p.R344R|ANK3_ENST00000373827.2_Silent_p.R1204R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1210	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TATGGAATTTCCGTCTTCTTG	0.473																																																	0													147.0	135.0	139.0					10																	61846553		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3630G>A	10.37:g.61846553C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.R1210	ENST00000280772.2	37	c.3630	CCDS7258.1	10																																																																																			ANK3	-	NULL		0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61846553	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	silent	SNP	1.000	T
ANKFY1	51479	genome.wustl.edu	37	17	4088218	4088218	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:4088218C>T	ENST00000341657.4	-	12	1629	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A574T|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A532T	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	532					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.A532T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCAGGGATGCGGCCTCCTTT	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)											78.0	87.0	84.0					17																	4088218		2176	4268	6444	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1594G>A	17.37:g.4088218C>T	ENSP00000343362:p.Ala532Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.A574T	ENST00000341657.4	37	c.1720		17	.	.	.	.	.	.	.	.	.	.	C	1.594	-0.528246	0.04112	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	T	0.49139	0.79	5.12	-1.28	0.09318	Ankyrin repeat-containing domain (2);	0.723299	0.14266	N	0.330497	T	0.31670	0.0804	L	0.54908	1.71	0.19945	N	0.999944	B;B;B;B	0.15141	0.001;0.012;0.001;0.0	B;B;B;B	0.14023	0.01;0.004;0.001;0.0	T	0.24621	-1.0155	10	0.14252	T	0.57	3.0E-4	2.0699	0.03611	0.1066:0.2435:0.3195:0.3305	.	473;532;532;574	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	532;473	ENSP00000343362:A532T	ENSP00000343362:A532T	A	-	1	0	ANKFY1	4034967	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-0.156000	0.10100	-0.360000	0.08138	0.655000	0.94253	GCA	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.622	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	C	NM_016376		4088218	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	missense	SNP	0.001	T
ANKFN1	162282	genome.wustl.edu	37	17	54431374	54431374	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:54431374C>G	ENST00000318698.2	+	5	612	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	ANKFN1_ENST00000566473.2_Missense_Mutation_p.L193V	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	193										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGCAAGGATTCTTCTGAGGAC	0.468																																																	0													115.0	93.0	100.0					17																	54431374		2203	4300	6503	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.577C>G	17.37:g.54431374C>G	ENSP00000321627:p.Leu193Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.L193V	ENST00000318698.2	37	c.577	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356898	0.82243	.	.	ENSG00000153930	ENST00000318698	D	0.86030	-2.06	5.22	5.22	0.72569	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.93546	0.7940	M	0.87971	2.92	0.52501	D	0.999954	D	0.89917	1.0	D	0.87578	0.998	D	0.94506	0.7714	10	0.87932	D	0	-9.8283	18.7787	0.91922	0.0:1.0:0.0:0.0	.	193	Q8N957	ANKF1_HUMAN	V	193	ENSP00000321627:L193V	ENSP00000321627:L193V	L	+	1	0	ANKFN1	51786373	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.974000	0.70465	2.426000	0.82243	0.655000	0.94253	CTT	ANKFN1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.468	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	C	NM_153228		54431374	+1	no_errors	ENST00000318698	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKLE1	126549	genome.wustl.edu	37	19	17396272	17396272	+	Missense_Mutation	SNP	C	C	T	rs146189965	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:17396272C>T	ENST00000394458.3	+	7	1685	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	ANKLE1_ENST00000433424.2_Missense_Mutation_p.H439Y|ANKLE1_ENST00000598347.1_Missense_Mutation_p.S444L|ANKLE1_ENST00000404085.1_Missense_Mutation_p.S466L|ANKLE1_ENST00000594072.1_Missense_Mutation_p.S433L	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	470	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.									large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CGAGCCTTCTCACTGACCCCA	0.587													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17387	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/SER	5,4401	11.4+/-27.6	0,5,2198	122.0	135.0	130.0		1409	0.2	0.0	19	dbSNP_134	130	0,8600		0,0,4300	yes	missense	ANKLE1	NM_152363.4	145	0,5,6498	TT,TC,CC		0.0,0.1135,0.0384	possibly-damaging	470/616	17396272	5,13001	2203	4300	6503	SO:0001583	missense	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1409C>T	19.37:g.17396272C>T	ENSP00000377971:p.Ser470Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_LEM,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM	p.S470L	ENST00000394458.3	37	c.1409	CCDS12354.2	19	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	4.119|4.119	0.020263|0.020263	0.08006|0.08006	0.001135|0.001135	0.0|0.0	ENSG00000160117|ENSG00000160117	ENST00000433424|ENST00000404261;ENST00000404085;ENST00000394458;ENST00000438921	T|T	0.72282|0.72615	-0.64|-0.67	4.44|4.44	0.244|0.244	0.15507|0.15507	.|.	.|0.450396	.|0.19533	.|N	.|0.111993	T|T	0.61035|0.61035	0.2315|0.2315	L|L	0.58669|0.58669	1.825|1.825	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.15719	.|0.014;0.012;0.006;0.006	.|B;B;B;B	.|0.17098	.|0.017;0.009;0.005;0.005	T|T	0.55270|0.55270	-0.8167|-0.8167	7|10	0.87932|0.59425	D|D	0|0.04	-14.2059|-14.2059	5.9377|5.9377	0.19175|0.19175	0.0:0.6214:0.1665:0.2121|0.0:0.6214:0.1665:0.2121	.|.	.|444;430;470;433	.|E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.|.;.;ANKL1_HUMAN;.	Y|L	439|470;466;433;444	ENSP00000394460:H439Y|ENSP00000384008:S466L	ENSP00000394460:H439Y|ENSP00000377971:S433L	H|S	+|+	1|2	0|0	ANKLE1|ANKLE1	17257272|17257272	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.611000|0.611000	0.37282|0.37282	0.359000|0.359000	0.20233|0.20233	0.139000|0.139000	0.18822|0.18822	0.561000|0.561000	0.74099|0.74099	CAC|TCA	ANKLE1	-	NULL		0.587	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	C	NM_152363		17396272	+1	no_errors	ENST00000394458	ensembl	human	known	70_37	missense	SNP	0.005	T
ANKRD11	29123	genome.wustl.edu	37	16	89350571	89350571	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89350571C>T	ENST00000301030.4	-	9	2839	c.2379G>A	c.(2377-2379)aaG>aaA	p.K793K	ANKRD11_ENST00000378330.2_Silent_p.K793K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	793	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTAAAAATCTTCTCCTTCT	0.308																																																	0													31.0	34.0	33.0					16																	89350571		2185	4291	6476	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.2379G>A	16.37:g.89350571C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NTG1|Q6QMF8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K793	ENST00000301030.4	37	c.2379	CCDS32513.1	16																																																																																			ANKRD11	-	NULL		0.308	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	C	NM_013275		89350571	-1	no_errors	ENST00000301030	ensembl	human	known	70_37	silent	SNP	0.925	T
ANKRD20A2	441430	genome.wustl.edu	37	9	42410417	42410417	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:42410417G>C	ENST00000377601.2	+	15	2518	c.2406G>C	c.(2404-2406)gaG>gaC	p.E802D	RP11-146D12.2_ENST00000421686.2_Missense_Mutation_p.E19Q|RP11-146D12.2_ENST00000590154.1_3'UTR	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	802										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATGAGAGAGAGAAAACAGAAG	0.318																																																	0													1.0	1.0	1.0					9																	42410417		555	1417	1972	SO:0001583	missense	441430				CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641	ENST00000377601.2:c.2406G>C	9.37:g.42410417G>C	ENSP00000366826:p.Glu802Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E802D	ENST00000377601.2	37	c.2406	CCDS35028.1	9	.	.	.	.	.	.	.	.	.	.	g	1.548	-0.540039	0.04053	.	.	ENSG00000183148	ENST00000377601	T	0.21191	2.02	2.04	1.08	0.20341	.	.	.	.	.	T	0.30978	0.0782	M	0.64404	1.975	0.24281	N	0.995208	D;D	0.57571	0.98;0.98	P;P	0.56216	0.794;0.794	T	0.12167	-1.0558	9	0.87932	D	0	.	4.6987	0.12816	0.3411:0.0:0.6589:0.0	.	802;802	Q5CZ79;Q5SQ80	AN20B_HUMAN;A20A2_HUMAN	D	802	ENSP00000366826:E802D	ENSP00000366826:E802D	E	+	3	2	ANKRD20A2	42400413	0.999000	0.42202	0.651000	0.29564	0.001000	0.01503	0.299000	0.19138	0.203000	0.20529	-1.490000	0.00973	GAG	ANKRD20A2	-	NULL		0.318	ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD20A2	HGNC	protein_coding	OTTHUMT00000129794.1	G	NM_001012421		42410417	+1	no_errors	ENST00000377601	ensembl	human	known	70_37	missense	SNP	0.999	C
ANKRD26P1	124149	genome.wustl.edu	37	16	46509709	46509709	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:46509709G>A	ENST00000571006.1	-	0	2040							Q6NSI1	AR26L_HUMAN	ankyrin repeat domain 26 pseudogene 1																		TCTGATATTTGAAGACAATGA	0.343																																																	0																																												124149			BC070117		16q11.2	2014-03-18	2009-06-12		ENSG00000261239	ENSG00000261239			32955	pseudogene	pseudogene							Standard	NR_026556		Approved	FLJ43980	uc002eeb.3	Q6NSI1	OTTHUMG00000175593		16.37:g.46509709G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000571006.1	37	NULL		16																																																																																			ANKRD26P1	-	-		0.343	ANKRD26P1-007	KNOWN	basic	processed_transcript	ANKRD26P1	HGNC	pseudogene	OTTHUMT00000437932.1	G	NR_026556		46509709	-1	no_errors	ENST00000566201	ensembl	human	known	70_37	rna	SNP	0.270	A
ANKRD26P1	124149	genome.wustl.edu	37	16	46513217	46513217	+	RNA	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:46513217C>A	ENST00000571006.1	-	0	1454							Q6NSI1	AR26L_HUMAN	ankyrin repeat domain 26 pseudogene 1																		TGTAGTGTTTCACGTTTCTCT	0.368																																																	0																																												124149			BC070117		16q11.2	2014-03-18	2009-06-12		ENSG00000261239	ENSG00000261239			32955	pseudogene	pseudogene							Standard	NR_026556		Approved	FLJ43980	uc002eeb.3	Q6NSI1	OTTHUMG00000175593		16.37:g.46513217C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000571006.1	37	NULL		16																																																																																			ANKRD26P1	-	-		0.368	ANKRD26P1-007	KNOWN	basic	processed_transcript	ANKRD26P1	HGNC	pseudogene	OTTHUMT00000437932.1	C	NR_026556		46513217	-1	no_errors	ENST00000566201	ensembl	human	known	70_37	rna	SNP	0.005	A
ANKRD28	23243	genome.wustl.edu	37	3	15727769	15727769	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:15727769C>G	ENST00000399451.2	-	19	2288	c.1921G>C	c.(1921-1923)Gaa>Caa	p.E641Q	ANKRD28_ENST00000383777.1_Missense_Mutation_p.E674Q|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	641						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTCTGTGGTTCTGCATTTCCT	0.328																																																	0													133.0	110.0	117.0					3																	15727769		1877	4120	5997	SO:0001583	missense	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1921G>C	3.37:g.15727769C>G	ENSP00000382379:p.Glu641Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E674Q	ENST00000399451.2	37	c.2020	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739454	0.69304	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.15603	2.42;2.41;2.42	5.79	5.79	0.91817	Ankyrin repeat-containing domain (4);	0.048356	0.85682	D	0.000000	T	0.21186	0.0510	L	0.46157	1.445	0.58432	D	0.999999	B;B;B	0.21753	0.06;0.028;0.014	B;B;B	0.22601	0.024;0.024;0.04	T	0.01684	-1.1296	10	0.45353	T	0.12	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	674;671;641	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	Q	641;674;641	ENSP00000382379:E641Q;ENSP00000373287:E674Q;ENSP00000397341:E641Q	ENSP00000373287:E674Q	E	-	1	0	ANKRD28	15702773	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.718000	0.92993	0.655000	0.94253	GAA	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.328	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1	C	NM_015199		15727769	-1	no_errors	ENST00000383777	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD32	84250	genome.wustl.edu	37	5	94006606	94006606	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:94006606G>C	ENST00000265140.5	+	14	2139	c.1720G>C	c.(1720-1722)Gaa>Caa	p.E574Q		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	574						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AATGCTTCTTGAAATTTTTTG	0.323																																																	0													93.0	86.0	88.0					5																	94006606		692	1591	2283	SO:0001583	missense	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1720G>C	5.37:g.94006606G>C	ENSP00000265140:p.Glu574Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E574Q	ENST00000265140.5	37	c.1720	CCDS4071.2	5	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662650	0.47572	.	.	ENSG00000133302	ENST00000265140	T	0.44482	0.92	5.34	4.46	0.54185	.	0.142714	0.32386	N	0.006173	T	0.33235	0.0856	L	0.44542	1.39	0.25525	N	0.987331	P	0.43750	0.816	B	0.42282	0.382	T	0.20438	-1.0275	10	0.33141	T	0.24	.	7.1912	0.25826	0.2742:0.0:0.7258:0.0	.	574	Q9BQI6	ANR32_HUMAN	Q	574	ENSP00000265140:E574Q	ENSP00000265140:E574Q	E	+	1	0	ANKRD32	94032362	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.614000	0.54160	2.491000	0.84063	0.655000	0.94253	GAA	ANKRD32	-	NULL		0.323	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	G	NM_032290		94006606	+1	no_errors	ENST00000265140	ensembl	human	known	70_37	missense	SNP	1.000	C
ANKS1A	23294	genome.wustl.edu	37	6	35021879	35021879	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:35021879G>T	ENST00000360359.3	+	12	2152	c.2014G>T	c.(2014-2016)Gag>Tag	p.E672*	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	672					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ATTTCAGATTGAGAAAATCAT	0.488																																																	0													97.0	90.0	92.0					6																	35021879		2203	4300	6503	SO:0001587	stop_gained	23294			D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2014G>T	6.37:g.35021879G>T	ENSP00000353518:p.Glu672*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTyr_interaction_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTyr_interaction_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTyr_interaction_dom,pfscan_SAM,prints_Ankyrin_rpt	p.E672*	ENST00000360359.3	37	c.2014	CCDS4798.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.222924	0.98714	.	.	ENSG00000064999	ENST00000360359	.	.	.	4.9	4.9	0.64082	.	0.000000	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-30.1009	18.6316	0.91361	0.0:0.0:1.0:0.0	.	.	.	.	X	672	.	ENSP00000353518:E672X	E	+	1	0	ANKS1A	35129857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.969000	0.93411	2.691000	0.91804	0.655000	0.94253	GAG	ANKS1A	-	NULL		0.488	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS1A	HGNC	protein_coding	OTTHUMT00000040262.1	G	XM_166478		35021879	+1	no_errors	ENST00000360359	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ANO1	55107	genome.wustl.edu	37	11	69999169	69999169	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:69999169C>A	ENST00000355303.5	+	14	1665	c.1360C>A	c.(1360-1362)Cct>Act	p.P454T	ANO1_ENST00000530676.1_Missense_Mutation_p.P334T|ANO1_ENST00000531349.1_Missense_Mutation_p.P189T|ANO1_ENST00000538023.1_Missense_Mutation_p.P454T|ANO1_ENST00000398543.2_Missense_Mutation_p.P334T|ANO1_ENST00000316296.5_Missense_Mutation_p.P422T	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	454					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	ACAGGATCATCCTAGAGCTGA	0.448																																																	0													45.0	45.0	45.0					11																	69999169		1915	4131	6046	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1360C>A	11.37:g.69999169C>A	ENSP00000347454:p.Pro454Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.P454T	ENST00000355303.5	37	c.1360	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	C	2.042	-0.419893	0.04734	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000316296;ENST00000530676;ENST00000531349;ENST00000531300	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	4.75	4.75	0.60458	.	0.132552	0.51477	D	0.000096	T	0.78323	0.4265	M	0.75447	2.3	0.49213	D	0.999762	B;D;D	0.76494	0.368;0.999;0.986	B;D;P	0.68353	0.271;0.957;0.898	T	0.79813	-0.1645	9	.	.	.	.	17.7643	0.88473	0.0:1.0:0.0:0.0	.	189;422;454	E9PNA7;Q5XXA6-3;Q5XXA6	.;.;ANO1_HUMAN	T	454;454;334;238;422;334;189;31	ENSP00000347454:P454T;ENSP00000444689:P454T;ENSP00000381551:P334T;ENSP00000319477:P422T;ENSP00000435797:P334T;ENSP00000432843:P189T;ENSP00000435868:P31T	.	P	+	1	0	ANO1	69676817	1.000000	0.71417	0.993000	0.49108	0.039000	0.13416	3.721000	0.54941	2.192000	0.70111	0.561000	0.74099	CCT	ANO1	-	pfam_Anoctamin		0.448	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	C	NM_018043		69999169	+1	no_errors	ENST00000355303	ensembl	human	known	70_37	missense	SNP	1.000	A
ANO1	55107	genome.wustl.edu	37	11	70028677	70028677	+	Missense_Mutation	SNP	G	G	A	rs373835880		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:70028677G>A	ENST00000355303.5	+	24	2778	c.2473G>A	c.(2473-2475)Ggg>Agg	p.G825R	ANO1_ENST00000530676.1_Missense_Mutation_p.G679R|ANO1_ENST00000531349.1_Missense_Mutation_p.G534R|ANO1_ENST00000538023.1_Missense_Mutation_p.G825R|ANO1_ENST00000398543.2_Missense_Mutation_p.G679R|ANO1_ENST00000525494.1_3'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	825					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CAGTAAGAACGGGACCATGCA	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17801	0.0		0.0	False		,,,				2504	0.0																0													103.0	111.0	108.0					11																	70028677		2077	4203	6280	SO:0001583	missense	55107			BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2473G>A	11.37:g.70028677G>A	ENSP00000347454:p.Gly825Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	pfam_Anoctamin	p.G825R	ENST00000355303.5	37	c.2473	CCDS44663.1	11	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568697	0.86439	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.79667	0.4485	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.81176	-0.1052	9	.	.	.	.	17.6499	0.88161	0.0:0.0:1.0:0.0	.	534;825	E9PNA7;Q5XXA6	.;ANO1_HUMAN	R	825;825;679;583;679;534;152	ENSP00000347454:G825R;ENSP00000444689:G825R;ENSP00000381551:G679R;ENSP00000435797:G679R;ENSP00000432843:G534R	.	G	+	1	0	ANO1	69706325	1.000000	0.71417	0.990000	0.47175	0.729000	0.41735	9.160000	0.94734	2.176000	0.68965	0.555000	0.69702	GGG	ANO1	-	pfam_Anoctamin		0.597	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO1	HGNC	protein_coding	OTTHUMT00000393685.1	G	NM_018043		70028677	+1	no_errors	ENST00000355303	ensembl	human	known	70_37	missense	SNP	1.000	A
AOAH	313	genome.wustl.edu	37	7	36579973	36579973	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:36579973C>G	ENST00000258749.5	-	16	1657	c.1258G>C	c.(1258-1260)Gat>Cat	p.D420H	AOAH_ENST00000538464.1_Missense_Mutation_p.D142H|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Missense_Mutation_p.D388H|AOAH_ENST00000431169.1_Missense_Mutation_p.D420H	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	420					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAGGTTCCATCTGGTAAGCCA	0.403																																																	0													94.0	89.0	91.0					7																	36579973		2203	4300	6503	SO:0001583	missense	313			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1258G>C	7.37:g.36579973C>G	ENSP00000258749:p.Asp420His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB	p.D420H	ENST00000258749.5	37	c.1258	CCDS5448.1	7	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740806	0.49151	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.98	4.17	0.49024	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.087235	0.49916	D	0.000133	T	0.18383	0.0441	.	.	.	0.39740	D	0.971736	B;P;B	0.44260	0.203;0.83;0.203	B;B;B	0.42692	0.148;0.395;0.105	T	0.02104	-1.1213	9	0.62326	D	0.03	.	9.2426	0.37506	0.0:0.7762:0.1462:0.0775	.	388;420;420	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	H	142;388;420;420;420	ENSP00000439283:D142H;ENSP00000441101:D388H;ENSP00000258749:D420H;ENSP00000405683:D420H	ENSP00000258749:D420H	D	-	1	0	AOAH	36546498	0.656000	0.27385	0.996000	0.52242	0.989000	0.77384	0.326000	0.19646	0.850000	0.35239	0.655000	0.94253	GAT	AOAH	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.403	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	C	NM_001637		36579973	-1	no_errors	ENST00000258749	ensembl	human	known	70_37	missense	SNP	1.000	G
AP2M1	1173	genome.wustl.edu	37	3	183898925	183898925	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:183898925G>C	ENST00000292807.5	+	7	766	c.618G>C	c.(616-618)ctG>ctC	p.L206L	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.L204L|AP2M1_ENST00000411763.2_Silent_p.L231L|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.L204L	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	206	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAGCTACCTGAGTGGCATGC	0.542																																																	0													157.0	166.0	163.0					3																	183898925		2102	4225	6327	SO:0001819	synonymous_variant	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.618G>C	3.37:g.183898925G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.L206	ENST00000292807.5	37	c.618	CCDS43177.1	3																																																																																			AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.542	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	G	NM_004068		183898925	+1	no_errors	ENST00000292807	ensembl	human	known	70_37	silent	SNP	1.000	C
AP2M1	1173	genome.wustl.edu	37	3	183898974	183898974	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:183898974G>A	ENST00000292807.5	+	7	815	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.E221K|AP2M1_ENST00000411763.2_Missense_Mutation_p.E248K|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Missense_Mutation_p.E221K	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	223	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATTGTTATTGAAAAGCAGGG	0.552																																																	0													143.0	150.0	148.0					3																	183898974		2060	4201	6261	SO:0001583	missense	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.667G>A	3.37:g.183898974G>A	ENSP00000292807:p.Glu223Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.E223K	ENST00000292807.5	37	c.667	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236236	0.79800	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	6.07	6.07	0.98685	Clathrin adaptor, mu subunit, C-terminal (3);	0.043832	0.85682	D	0.000000	T	0.30823	0.0777	M	0.67953	2.075	0.80722	D	1	B;B;B;B	0.15141	0.012;0.011;0.005;0.004	B;B;B;B	0.18871	0.023;0.009;0.01;0.006	T	0.04320	-1.0960	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	113;93;223;221	B7Z4N2;B4DTI4;Q96CW1;Q96CW1-2	.;.;AP2M1_HUMAN;.	K	221;248;223;163;208;221	ENSP00000371894:E221K;ENSP00000403362:E248K;ENSP00000292807:E223K;ENSP00000409081:E221K	ENSP00000292807:E223K	E	+	1	0	AP2M1	185381668	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.102000	0.94226	2.884000	0.98904	0.655000	0.94253	GAA	AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.552	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	G	NM_004068		183898974	+1	no_errors	ENST00000292807	ensembl	human	known	70_37	missense	SNP	1.000	A
AP3D1	8943	genome.wustl.edu	37	19	2114291	2114291	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2114291C>T	ENST00000345016.5	-	22	2665	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	AP3D1_ENST00000356926.4_Missense_Mutation_p.D721N|AP3D1_ENST00000350812.6_Missense_Mutation_p.D643N|AP3D1_ENST00000355272.6_Missense_Mutation_p.D812N	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	812					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TTCTCGCTGTCGGCTAAGGGC	0.547																																																	0													123.0	123.0	123.0					19																	2114291		2050	4178	6228	SO:0001583	missense	8943			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2434G>A	19.37:g.2114291C>T	ENSP00000344055:p.Asp812Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.D812N	ENST00000345016.5	37	c.2434	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470581	0.63625	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000350812	T;T;T;T	0.62105	2.24;0.05;1.58;0.05	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	M	0.76838	2.35	0.80722	D	1	D;D;D	0.69078	0.997;0.989;0.988	P;P;P	0.59115	0.852;0.776;0.786	T	0.73232	-0.4048	10	0.20519	T	0.43	-45.5748	17.0936	0.86628	0.0:1.0:0.0:0.0	.	812;812;721	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	N	721;812;812;643	ENSP00000349398:D721N;ENSP00000344055:D812N;ENSP00000347416:D812N;ENSP00000342321:D643N	ENSP00000344055:D812N	D	-	1	0	AP3D1	2065291	1.000000	0.71417	0.904000	0.35570	0.062000	0.15995	6.917000	0.75782	2.266000	0.75297	0.448000	0.29417	GAC	AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu		0.547	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	C			2114291	-1	no_errors	ENST00000355272	ensembl	human	known	70_37	missense	SNP	0.998	T
AP4E1	23431	genome.wustl.edu	37	15	51293237	51293237	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:51293237C>G	ENST00000261842.5	+	20	3216	c.3110C>G	c.(3109-3111)tCa>tGa	p.S1037*	AP4E1_ENST00000560508.1_Nonsense_Mutation_p.S962*|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	1037					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTAAAAATCTCAAGTGACGAC	0.308																																																	0													73.0	77.0	76.0					15																	51293237		2196	4294	6490	SO:0001587	stop_gained	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.3110C>G	15.37:g.51293237C>G	ENSP00000261842:p.Ser1037*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.S1037*	ENST00000261842.5	37	c.3110	CCDS32240.1	15	.	.	.	.	.	.	.	.	.	.	C	40	8.204355	0.98704	.	.	ENSG00000081014	ENST00000261842	.	.	.	4.93	3.97	0.46021	.	0.209073	0.42294	D	0.000728	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.811	15.7626	0.78096	0.0:0.8515:0.1485:0.0	.	.	.	.	X	1037	.	ENSP00000261842:S1037X	S	+	2	0	AP4E1	49080529	0.995000	0.38212	1.000000	0.80357	0.953000	0.61014	3.881000	0.56152	2.570000	0.86706	0.561000	0.74099	TCA	AP4E1	-	pfam_Coatomer_bsu_C,pirsf_AP4_complex_esu		0.308	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	C			51293237	+1	no_errors	ENST00000261842	ensembl	human	known	70_37	nonsense	SNP	0.998	G
APC	324	genome.wustl.edu	37	5	112174700	112174700	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:112174700G>A	ENST00000457016.1	+	16	3789	c.3409G>A	c.(3409-3411)Gat>Aat	p.D1137N	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D1137N|APC_ENST00000257430.4_Missense_Mutation_p.D1137N			P25054	APC_HUMAN	adenomatous polyposis coli	1137	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1137H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGACTATGAAGATGATAAGCC	0.363		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Missense(1)|Unknown(1)	cervix(1)|skin(1)											69.0	64.0	66.0					5																	112174700		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3409G>A	5.37:g.112174700G>A	ENSP00000413133:p.Asp1137Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D1137N	ENST00000457016.1	37	c.3409	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677682	0.68042	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.76	5.76	0.90799	.	0.167671	0.52532	D	0.000078	D	0.85843	0.5791	N	0.24115	0.695	0.48288	D	0.99962	B;P	0.44344	0.003;0.833	B;P	0.47891	0.021;0.56	D	0.85455	0.1163	10	0.39692	T	0.17	-22.4703	15.1528	0.72713	0.0694:0.0:0.9306:0.0	.	1139;1137	Q4LE70;P25054	.;APC_HUMAN	N	1137;1119;1137;1137;1137	ENSP00000413133:D1137N;ENSP00000423224:D1119N;ENSP00000257430:D1137N;ENSP00000427089:D1137N;ENSP00000423828:D1137N	ENSP00000257430:D1137N	D	+	1	0	APC	112202599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.842000	0.86851	2.732000	0.93576	0.655000	0.94253	GAT	APC	-	pfam_APC_15aa_rpt		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112174700	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	missense	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21229833	21229833	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:21229833C>T	ENST00000233242.1	-	26	10034	c.9907G>A	c.(9907-9909)Gag>Aag	p.E3303K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3303					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.E3303*(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGGCAGCTCTAATGATGGC	0.443																																																	1	Substitution - Nonsense(1)	lung(1)											88.0	88.0	88.0					2																	21229833		2203	4300	6503	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9907G>A	2.37:g.21229833C>T	ENSP00000233242:p.Glu3303Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.E3303K	ENST00000233242.1	37	c.9907	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.87	1.768866	0.31320	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.37411	1.2	4.8	3.91	0.45181	.	0.107777	0.40385	N	0.001117	T	0.50086	0.1595	M	0.83483	2.645	0.80722	D	1	P	0.37997	0.614	B	0.43360	0.417	T	0.58825	-0.7568	10	0.72032	D	0.01	.	15.1578	0.72759	0.0:0.8584:0.1416:0.0	.	3303	P04114	APOB_HUMAN	K	3303	ENSP00000233242:E3303K	ENSP00000233242:E3303K	E	-	1	0	APOB	21083338	0.941000	0.31946	0.051000	0.19133	0.010000	0.07245	2.542000	0.45744	0.981000	0.38548	0.563000	0.77884	GAG	APOB	-	NULL		0.443	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21229833	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	missense	SNP	0.781	T
APOB	338	genome.wustl.edu	37	2	21247862	21247862	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:21247862C>T	ENST00000233242.1	-	16	2506	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	APOB_ENST00000399256.4_Silent_p.Q793Q	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	793				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759). {ECO:0000305}.|Q -> R (in Ref. 4; AAB04636). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCAGGAGCTGGAGGTCAT	0.567																																																	0													81.0	84.0	83.0					2																	21247862		2203	4300	6503	SO:0001819	synonymous_variant	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2379G>A	2.37:g.21247862C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q793	ENST00000233242.1	37	c.2379	CCDS1703.1	2																																																																																			APOB	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.567	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	C			21247862	-1	no_errors	ENST00000233242	ensembl	human	known	70_37	silent	SNP	0.004	T
APOBEC3D	140564	genome.wustl.edu	37	22	39427902	39427902	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39427902C>T	ENST00000216099.8	+	6	1373	c.966C>T	c.(964-966)ttC>ttT	p.F322F	APOBEC3D_ENST00000427494.2_Silent_p.F138F|APOBEC3D_ENST00000381568.4_Silent_p.F322F	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	322					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCTGCTACTTCTGGGATACAG	0.607																																																	0													88.0	84.0	85.0					22																	39427902		1568	3582	5150	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.966C>T	22.37:g.39427902C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.F322	ENST00000216099.8	37	c.966	CCDS46709.1	22																																																																																			APOBEC3D	-	superfamily_Cytidine_deaminase-like		0.607	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	C	NM_152426		39427902	+1	no_errors	ENST00000216099	ensembl	human	known	70_37	silent	SNP	0.000	T
APOBEC3G	60489	genome.wustl.edu	37	22	39477000	39477000	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39477000G>T	ENST00000407997.3	+	3	591	c.234G>T	c.(232-234)agG>agT	p.R78S	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R78S	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	78	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GCAAGTGGAGGAAGCTGCATC	0.552																																																	0													77.0	67.0	71.0					22																	39477000		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.234G>T	22.37:g.39477000G>T	ENSP00000385057:p.Arg78Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.R78S	ENST00000407997.3	37	c.234	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	7.466	0.645706	0.14451	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66280	-0.2;-0.2	1.84	-0.542	0.11854	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.62466	0.2430	M	0.76838	2.35	0.09310	N	1	P	0.36712	0.566	B	0.43990	0.438	T	0.57774	-0.7753	9	0.56958	D	0.05	.	2.6376	0.04962	0.2235:0.315:0.4615:0.0	.	78	Q9HC16	ABC3G_HUMAN	S	78	ENSP00000413376:R78S;ENSP00000385057:R78S	ENSP00000385057:R78S	R	+	3	2	APOBEC3G	37806946	0.030000	0.19436	0.000000	0.03702	0.002000	0.02628	0.936000	0.28938	-0.085000	0.12573	-0.719000	0.03609	AGG	APOBEC3G	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.552	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39477000	+1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.000	T
APOBEC3G	60489	genome.wustl.edu	37	22	39477025	39477025	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39477025G>A	ENST00000407997.3	+	3	616	c.259G>A	c.(259-261)Gag>Aag	p.E87K	APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Missense_Mutation_p.E87K	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	87	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					CCAGGAGTATGAGGTCACCTG	0.532																																																	0													90.0	77.0	81.0					22																	39477025		2203	4300	6503	SO:0001583	missense	60489			AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.259G>A	22.37:g.39477025G>A	ENSP00000385057:p.Glu87Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Missense_Mutation	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.E87K	ENST00000407997.3	37	c.259	CCDS13984.1	22	.	.	.	.	.	.	.	.	.	.	.	1.319	-0.600109	0.03744	.	.	ENSG00000239713	ENST00000452957;ENST00000407997	T;T	0.66460	-0.21;-0.21	2.44	-4.89	0.03103	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.38427	0.1040	N	0.25060	0.705	0.09310	N	1	B	0.17465	0.022	B	0.22880	0.042	T	0.40440	-0.9563	9	0.05525	T	0.97	.	2.2482	0.04036	0.5558:0.1758:0.1426:0.1258	.	87	Q9HC16	ABC3G_HUMAN	K	87	ENSP00000413376:E87K;ENSP00000385057:E87K	ENSP00000385057:E87K	E	+	1	0	APOBEC3G	37806971	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.613000	0.05610	-1.601000	0.01601	-1.594000	0.00841	GAG	APOBEC3G	-	pfam_APOBEC_N,superfamily_Cytidine_deaminase-like		0.532	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3G	HGNC	protein_coding	OTTHUMT00000321219.1	G	NM_021822		39477025	+1	no_errors	ENST00000407997	ensembl	human	known	70_37	missense	SNP	0.000	A
APOBR	55911	genome.wustl.edu	37	16	28507050	28507050	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:28507050G>A	ENST00000431282.1	+	2	698	c.688G>A	c.(688-690)Gag>Aag	p.E230K	APOBR_ENST00000328423.5_Missense_Mutation_p.E230K|APOBR_ENST00000564831.1_Missense_Mutation_p.E230K|CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	230	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGGGTCAGGGAGGCAGATGC	0.637																																																	0													16.0	19.0	18.0					16																	28507050		2120	4231	6351	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.688G>A	16.37:g.28507050G>A	ENSP00000416094:p.Glu230Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.E230K	ENST00000431282.1	37	c.688		16	.	.	.	.	.	.	.	.	.	.	G	8.368	0.834618	0.16820	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.58358	0.34;0.34	5.14	3.13	0.36017	.	.	.	.	.	T	0.34424	0.0897	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.20538	-1.0272	9	0.33141	T	0.24	-1.0138	8.3384	0.32228	0.161:0.13:0.709:0.0	.	230	Q9NS13	.	K	230	ENSP00000327669:E230K;ENSP00000416094:E230K	ENSP00000327669:E230K	E	+	1	0	APOBR	28414551	0.015000	0.18098	0.002000	0.10522	0.022000	0.10575	0.841000	0.27613	0.564000	0.29238	-1.144000	0.01866	GAG	APOBR	-	NULL		0.637	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		G	NM_182804		28507050	+1	no_errors	ENST00000564831	ensembl	human	known	70_37	missense	SNP	0.002	A
APOC1P1	342	genome.wustl.edu	37	19	45430229	45430229	+	RNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:45430229C>T	ENST00000574565.1	+	0	20					NR_028412.1				apolipoprotein C-I pseudogene 1																		CCTCCGGCCTCGCCATGAGGC	0.607																																																	0																																												342			M20903		19q13.32	2014-03-18			ENSG00000214855	ENSG00000214855			608	pseudogene	pseudogene							Standard	NR_028412		Approved		uc021uvm.1		OTTHUMG00000177534		19.37:g.45430229C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000574565.1	37	NULL		19																																																																																			APOC1P1	-	-		0.607	APOC1P1-003	KNOWN	basic	processed_transcript	APOC1P1	HGNC	pseudogene	OTTHUMT00000437392.1	C			45430229	+1	no_errors	ENST00000507983	ensembl	human	known	70_37	rna	SNP	0.000	T
APOL3	80833	genome.wustl.edu	37	22	36537912	36537912	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:36537912C>A	ENST00000349314.2	-	3	582	c.545G>T	c.(544-546)aGa>aTa	p.R182I	APOL3_ENST00000424878.2_5'UTR|APOL3_ENST00000397293.2_Missense_Mutation_p.R111I|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000397287.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	182					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GGTGCAGCCTCTGTGGACCTC	0.512																																																	0													118.0	111.0	113.0					22																	36537912		2203	4300	6503	SO:0001583	missense	80833			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.545G>T	22.37:g.36537912C>A	ENSP00000344577:p.Arg182Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.R182I	ENST00000349314.2	37	c.545	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117007	0.37339	.	.	ENSG00000128284	ENST00000397293;ENST00000349314	T;T	0.04603	3.59;3.59	4.3	-1.35	0.09114	.	0.656804	0.15740	N	0.247000	T	0.16938	0.0407	M	0.82517	2.595	0.58432	D	0.999997	D;D	0.71674	0.998;0.997	D;D	0.68621	0.959;0.931	T	0.04885	-1.0920	10	0.87932	D	0	.	7.8557	0.29480	0.0:0.4068:0.0:0.5932	.	182;111	O95236;O95236-2	APOL3_HUMAN;.	I	111;182	ENSP00000380461:R111I;ENSP00000344577:R182I	ENSP00000344577:R182I	R	-	2	0	APOL3	34867858	0.003000	0.15002	0.005000	0.12908	0.007000	0.05969	-0.104000	0.10923	-0.014000	0.14175	-0.373000	0.07131	AGA	APOL3	-	pfam_ApoL		0.512	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	C	NM_145641		36537912	-1	no_errors	ENST00000349314	ensembl	human	known	70_37	missense	SNP	0.768	A
AQP2	359	genome.wustl.edu	37	12	50344910	50344910	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:50344910C>T	ENST00000199280.3	+	1	382	c.297C>T	c.(295-297)gcC>gcT	p.A99A	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	99					actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGGCTGTGGCCGGAGCCGCTC	0.647																																																	0													21.0	21.0	21.0					12																	50344910		2202	4295	6497	SO:0001819	synonymous_variant	359				CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.297C>T	12.37:g.50344910C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UD68	Silent	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP	p.A99	ENST00000199280.3	37	c.297	CCDS8792.1	12																																																																																			AQP2	-	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP		0.647	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP2	HGNC	protein_coding	OTTHUMT00000405540.1	C	NM_000486		50344910	+1	no_errors	ENST00000199280	ensembl	human	known	70_37	silent	SNP	0.007	T
ARAF	369	genome.wustl.edu	37	X	47428869	47428869	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:47428869G>A	ENST00000377045.4	+	13	1494					NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase						cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGGCACCAATGGGAACCTCCC	0.567											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	369			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1301-69G>A	X.37:g.47428869G>A		Somatic	946	WXS	Illumina HiSeq	Phase_IV	P07557|Q5H9B2|Q5H9B3	RNA	SNP	-	NULL	ENST00000377045.4	37	NULL	CCDS35232.1	X																																																																																			ARAF	-	-		0.567	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	G			47428869	+1	no_errors	ENST00000469505	ensembl	human	known	70_37	rna	SNP	0.000	A
ARCN1	372	genome.wustl.edu	37	11	118461080	118461080	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:118461080G>C	ENST00000264028.4	+	6	938	c.843G>C	c.(841-843)aaG>aaC	p.K281N	ARCN1_ENST00000392859.3_Missense_Mutation_p.K193N|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.K322N	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	281	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGAAGAAAAGATAACATTAA	0.418																																																	0													102.0	89.0	94.0					11																	118461080		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.843G>C	11.37:g.118461080G>C	ENSP00000264028:p.Lys281Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.K281N	ENST00000264028.4	37	c.843	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805557	0.70682	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.20881	2.04;2.04;2.04	5.86	3.86	0.44501	Clathrin adaptor, mu subunit, C-terminal (3);	0.041576	0.85682	D	0.000000	T	0.40272	0.1110	M	0.77820	2.39	0.80722	D	1	D;D;D	0.61697	0.969;0.973;0.99	P;P;D	0.65573	0.825;0.859;0.936	T	0.21759	-1.0236	10	0.45353	T	0.12	-5.1716	7.0841	0.25247	0.3607:0.0:0.6393:0.0	.	193;322;281	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	N	193;322;281	ENSP00000376599:K193N;ENSP00000352385:K322N;ENSP00000264028:K281N	ENSP00000264028:K281N	K	+	3	2	ARCN1	117966290	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.086000	0.41643	1.487000	0.48415	0.650000	0.86243	AAG	ARCN1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C		0.418	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	G			118461080	+1	no_errors	ENST00000264028	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGAP11A	9824	genome.wustl.edu	37	15	32917801	32917801	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:32917801G>C	ENST00000361627.3	+	6	1551	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E88Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E88Q|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.E277Q|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.E277Q	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	277					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AACTCCTGGTGAATATAAGAG	0.398																																					Colon(45;757 1134 30003 36652)												0													136.0	137.0	137.0					15																	32917801		2201	4300	6501	SO:0001583	missense	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.829G>C	15.37:g.32917801G>C	ENSP00000355090:p.Glu277Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E277Q	ENST00000361627.3	37	c.829	CCDS10028.1	15	.	.	.	.	.	.	.	.	.	.	.	12.26	1.883423	0.33255	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	D;D	0.92752	-3.1;-3.1	5.07	4.14	0.48551	.	0.460298	0.19773	N	0.106400	D	0.89030	0.6599	L	0.44542	1.39	0.37403	D	0.912935	P;P	0.45212	0.814;0.853	B;B	0.40329	0.177;0.326	D	0.89909	0.4050	10	0.46703	T	0.11	.	15.7395	0.77882	0.0:0.1372:0.8628:0.0	.	277;88	Q6P4F7;B4DZN9	RHGBA_HUMAN;.	Q	277;88	ENSP00000355090:E277Q;ENSP00000440073:E88Q	ENSP00000355090:E277Q	E	+	1	0	ARHGAP11A	30705093	1.000000	0.71417	0.985000	0.45067	0.850000	0.48378	5.257000	0.65473	1.229000	0.43630	0.655000	0.94253	GAA	ARHGAP11A	-	NULL		0.398	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP11A	HGNC	protein_coding	OTTHUMT00000251417.1	G	NM_014783		32917801	+1	no_errors	ENST00000361627	ensembl	human	known	70_37	missense	SNP	0.936	C
ARHGAP12	94134	genome.wustl.edu	37	10	32096154	32096154	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:32096154C>G	ENST00000344936.2	-	0	3207				ARHGAP12_ENST00000375245.4_3'UTR|ARHGAP12_ENST00000396144.4_3'UTR|ARHGAP12_ENST00000375250.5_3'UTR|ARHGAP12_ENST00000311380.4_3'UTR|ARHGAP12_ENST00000492028.1_5'UTR	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12						morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				GGATATACTTCATTTTGTTTA	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	94134			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.*432G>C	10.37:g.32096154C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	RNA	SNP	-	NULL	ENST00000344936.2	37	NULL	CCDS7170.1	10																																																																																			ARHGAP12	-	-		0.358	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1	C			32096154	-1	no_errors	ENST00000492028	ensembl	human	known	70_37	rna	SNP	0.993	G
ARHGAP32	9743	genome.wustl.edu	37	11	128851411	128851411	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:128851411G>T	ENST00000310343.9	-	16	1637	c.1638C>A	c.(1636-1638)ttC>ttA	p.F546L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.F197L|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.F472L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.F197L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	546	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCACTTCCATGAAAGCTGCTG	0.473																																																	0													139.0	113.0	122.0					11																	128851411		2201	4297	6498	SO:0001583	missense	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.1638C>A	11.37:g.128851411G>T	ENSP00000310561:p.Phe546Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.F546L	ENST00000310343.9	37	c.1638	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523460	0.44866	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000524655;ENST00000457677;ENST00000527272;ENST00000356092	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.7	4.79	0.61399	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	N	0.25825	0.765	0.52099	D	0.999949	P;P	0.47545	0.897;0.537	P;B	0.50270	0.636;0.262	T	0.16630	-1.0396	10	0.26408	T	0.33	.	11.6144	0.51080	0.1451:0.0:0.8549:0.0	.	480;546	Q86T64;A7KAX9	.;RHG32_HUMAN	L	546;197;472;480;197;256	ENSP00000310561:F546L;ENSP00000376425:F197L;ENSP00000432468:F472L;ENSP00000432862:F197L	ENSP00000310561:F546L	F	-	3	2	ARHGAP32	128356621	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.568000	0.60857	1.422000	0.47177	0.655000	0.94253	TTC	ARHGAP32	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.473	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	G	NM_014715		128851411	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP33	115703	genome.wustl.edu	37	19	36277396	36277396	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36277396G>A	ENST00000007510.4	+	20	2168	c.2024G>A	c.(2023-2025)tGc>tAc	p.C675Y	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.C539Y|AC002398.5_ENST00000433059.1_lincRNA|ARHGAP33_ENST00000314737.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	675					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCTGGCTCCTGCGAGAGCCTG	0.677																																																	0																																										SO:0001583	missense	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.2024G>A	19.37:g.36277396G>A	ENSP00000007510:p.Cys675Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.C675Y	ENST00000007510.4	37	c.2024		19	.	.	.	.	.	.	.	.	.	.	G	4.337	0.061969	0.08339	.	.	ENSG00000004777	ENST00000007510;ENST00000378944	T;T	0.07800	3.16;3.2	4.7	4.7	0.59300	.	0.372731	0.25909	N	0.027514	T	0.18383	0.0441	L	0.43923	1.385	0.40930	D	0.984387	D;D	0.69078	0.995;0.997	P;D	0.65010	0.795;0.931	T	0.00359	-1.1791	10	0.56958	D	0.05	.	11.7427	0.51803	0.0:0.0:0.8234:0.1766	.	675;539	O14559;O14559-10	RHG33_HUMAN;.	Y	675;539	ENSP00000007510:C675Y;ENSP00000368227:C539Y	ENSP00000007510:C675Y	C	+	2	0	ARHGAP33	40969236	1.000000	0.71417	0.999000	0.59377	0.617000	0.37484	4.598000	0.61069	2.434000	0.82447	0.650000	0.86243	TGC	ARHGAP33	-	NULL		0.677	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		G	NM_052948		36277396	+1	no_errors	ENST00000007510	ensembl	human	known	70_37	missense	SNP	0.999	A
ARHGAP4	393	genome.wustl.edu	37	X	153186238	153186238	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153186238G>C	ENST00000350060.5	-	5	564	c.523C>G	c.(523-525)Cac>Gac	p.H175D	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.H175D|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.H152D|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.H154D	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	175					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCCATGTGATATGCCTGG	0.677																																																	0													63.0	58.0	59.0					X																	153186238		2203	4300	6503	SO:0001583	missense	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.523C>G	X.37:g.153186238G>C	ENSP00000203786:p.His175Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14144|Q86UY3	Nonsense_Mutation	SNP	pfam_FCH,smart_FCH,pfscan_FCH	p.S184*	ENST00000350060.5	37	c.551	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.95|15.95	2.984533|2.984533	0.53934|0.53934	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091|ENST00000418750	T;T;T;T;T;T|.	0.42900|.	0.96;0.96;0.96;0.96;0.96;0.96|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.484661|.	0.17601|.	N|.	0.168434|.	T|.	0.61677|.	0.2366|.	L|L	0.43598|0.43598	1.365|1.365	0.41513|0.41513	D|D	0.988354|0.988354	D;D|.	0.60160|.	0.987;0.978|.	P;P|.	0.57776|.	0.827;0.649|.	T|.	0.58901|.	-0.7554|.	10|.	0.72032|0.30854	D|T	0.01|0.27	.|.	16.5027|16.5027	0.84261|0.84261	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	175;175|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	D|X	175;175;154;152;152;152|22	ENSP00000359045:H175D;ENSP00000203786:H175D;ENSP00000359033:H154D;ENSP00000444169:H152D;ENSP00000398259:H152D;ENSP00000413782:H152D|.	ENSP00000203786:H175D|ENSP00000385042:S184X	H|S	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839432|152839432	1.000000|1.000000	0.71417|0.71417	0.010000|0.010000	0.14722|0.14722	0.060000|0.060000	0.15804|0.15804	2.862000|2.862000	0.48388|0.48388	2.355000|2.355000	0.79922|0.79922	0.529000|0.529000	0.55759|0.55759	CAC|TCA	ARHGAP4	-	NULL		0.677	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	G	NM_001666		153186238	-1	no_errors	ENST00000404127	ensembl	human	known	70_37	nonsense	SNP	0.911	C
ARHGAP5	394	genome.wustl.edu	37	14	32619107	32619107	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:32619107G>C	ENST00000345122.3	+	5	4258		c.e5-1		ARHGAP5_ENST00000396582.2_Splice_Site|ARHGAP5_ENST00000433497.1_Splice_Site|ARHGAP5_ENST00000539826.2_Splice_Site|ARHGAP5_ENST00000432921.1_Splice_Site|ARHGAP5_ENST00000556611.1_Splice_Site	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5						cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ttGTCTTGTAGATCATAATAT	0.294																																					NSCLC(9;77 350 3443 29227 41353)												0													27.0	25.0	26.0					14																	32619107		2198	4284	6482	SO:0001630	splice_region_variant	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3944-1G>C	14.37:g.32619107G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Splice_Site	SNP	-	e4-1	ENST00000345122.3	37	c.3944-1	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374854	0.42105	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000396582;ENST00000345122;ENST00000432921;ENST00000433497;ENST00000554090	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1486	0.93479	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP5	31688858	1.000000	0.71417	0.999000	0.59377	0.240000	0.25518	9.624000	0.98398	2.517000	0.84864	0.561000	0.74099	.	ARHGAP5	-	-		0.294	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	G	NM_001030055	Intron	32619107	+1	no_errors	ENST00000345122	ensembl	human	known	70_37	splice_site	SNP	1.000	C
MARS	4141	genome.wustl.edu	37	12	57882491	57882491	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57882491C>G	ENST00000262027.5	+	2	243				ARHGAP9_ENST00000550288.1_5'UTR|ARHGAP9_ENST00000393797.2_5'UTR|MARS_ENST00000315473.5_Intron|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase						gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGTGACCTTCAGATAATTAT	0.433																																																	0																																										SO:0001627	intron_variant	64333			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.110-311C>G	12.37:g.57882491C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	RNA	SNP	-	NULL	ENST00000262027.5	37	NULL	CCDS8942.1	12																																																																																			ARHGAP9	-	-		0.433	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP9	HGNC	protein_coding	OTTHUMT00000407014.1	C	NM_004990		57882491	-1	no_errors	ENST00000550288	ensembl	human	known	70_37	rna	SNP	0.000	G
ARHGEF3	50650	genome.wustl.edu	37	3	56787552	56787552	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:56787552C>T	ENST00000296315.3	-	4	586	c.418G>A	c.(418-420)Gac>Aac	p.D140N	ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D172N|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D140N|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D146N|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.D146N|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D111N	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	140	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AATTTCAAGTCTTCTATCAAG	0.358																																																	0													127.0	129.0	128.0					3																	56787552		2203	4300	6503	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.418G>A	3.37:g.56787552C>T	ENSP00000296315:p.Asp140Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D172N	ENST00000296315.3	37	c.514	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.614257	0.96649	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.63	5.63	0.86233	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.82490	0.5048	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.996;0.998;0.998;0.998	D;D;D;D;D;D	0.87578	0.95;0.998;0.95;0.917;0.95;0.917	D	0.84339	0.0526	10	0.87932	D	0	-9.1337	19.6522	0.95822	0.0:1.0:0.0:0.0	.	146;111;140;172;140;146	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	N	140;172;146;146;111;140;141;158	ENSP00000296315:D140N;ENSP00000341071:D172N;ENSP00000410922:D146N;ENSP00000420420:D146N;ENSP00000418826:D111N;ENSP00000417986:D140N;ENSP00000417087:D141N;ENSP00000420402:D158N	ENSP00000296315:D140N	D	-	1	0	ARHGEF3	56762592	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.470000	0.80973	2.826000	0.97356	0.655000	0.94253	GAC	ARHGEF3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.358	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	C	NM_019555		56787552	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGEF3	50650	genome.wustl.edu	37	3	56787559	56787559	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:56787559C>G	ENST00000296315.3	-	4	579	c.411G>C	c.(409-411)ttG>ttC	p.L137F	ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L169F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L137F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L143F|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.L143F|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L108F	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	137	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AGTCTTCTATCAAGTCTTCTT	0.343																																																	0													123.0	126.0	125.0					3																	56787559		2203	4300	6503	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.411G>C	3.37:g.56787559C>G	ENSP00000296315:p.Leu137Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L169F	ENST00000296315.3	37	c.507	CCDS2878.1	3	.	.	.	.	.	.	.	.	.	.	C	19.50	3.840270	0.71488	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13;0.13;0.13	5.63	1.51	0.23008	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.65893	0.2735	L	0.59436	1.845	0.53688	D	0.999979	D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.997;0.998;0.997	D;D;D;D;D;D	0.71870	0.975;0.975;0.944;0.943;0.966;0.943	T	0.59408	-0.7460	10	0.27785	T	0.31	-6.5301	9.573	0.39440	0.0:0.5279:0.0:0.4721	.	143;108;137;169;137;143	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	F	137;169;143;143;108;137;138;155	ENSP00000296315:L137F;ENSP00000341071:L169F;ENSP00000410922:L143F;ENSP00000420420:L143F;ENSP00000418826:L108F;ENSP00000417986:L137F;ENSP00000417087:L138F;ENSP00000420402:L155F	ENSP00000296315:L137F	L	-	3	2	ARHGEF3	56762599	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.853000	0.27777	0.050000	0.15949	0.655000	0.94253	TTG	ARHGEF3	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.343	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF3	HGNC	protein_coding	OTTHUMT00000352431.2	C	NM_019555		56787559	-1	no_errors	ENST00000338458	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGEF4	50649	genome.wustl.edu	37	2	131674361	131674361	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:131674361C>T	ENST00000326016.5	+	0	138				ARHGEF4_ENST00000428230.2_5'Flank|ARHGEF4_ENST00000525839.1_5'Flank|ARHGEF4_ENST00000392953.3_5'UTR|ARHGEF4_ENST00000409359.1_Missense_Mutation_p.R618C	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4						apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GAGCAGGCTGCGCCAGGGTTC	0.527																																																	0																																										SO:0001623	5_prime_UTR_variant	50649			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.-382C>T	2.37:g.131674361C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	NULL	p.R618C	ENST00000326016.5	37	c.1852	CCDS2165.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203016	0.79127	.	.	ENSG00000136002	ENST00000409359	T	0.55588	0.51	4.4	1.5	0.22942	.	.	.	.	.	T	0.62171	0.2406	.	.	.	0.09310	N	0.999997	D	0.76494	0.999	D	0.63113	0.911	T	0.50915	-0.8771	8	0.87932	D	0	.	4.4345	0.11544	0.1571:0.6006:0.1523:0.0901	.	618	E7EV07	.	C	618	ENSP00000386794:R618C	ENSP00000386794:R618C	R	+	1	0	ARHGEF4	131390831	0.455000	0.25736	0.000000	0.03702	0.682000	0.39822	0.880000	0.28159	0.071000	0.16664	0.313000	0.20887	CGC	ARHGEF4	-	NULL		0.527	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	C			131674361	+1	no_errors	ENST00000409359	ensembl	human	putative	70_37	missense	SNP	0.002	T
ARHGEF7	8874	genome.wustl.edu	37	13	111918015	111918015	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:111918015C>T	ENST00000375741.2	+	10	1263				ARHGEF7_ENST00000375736.4_Intron|ARHGEF7_ENST00000478679.1_Intron|ARHGEF7_ENST00000375737.5_Intron|ARHGEF7_ENST00000218789.5_Intron|ARHGEF7_ENST00000375739.2_Intron|ARHGEF7_ENST00000375723.1_Intron|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.S6L|ARHGEF7_ENST00000317133.5_Intron|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000426073.2_Intron|ARHGEF7_ENST00000483189.1_Intron	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7						apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ttccccagatcatctgttact	0.527																																																	0																																										SO:0001627	intron_variant	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1014-1880C>T	13.37:g.111918015C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	superfamily_DH-domain	p.S6L	ENST00000375741.2	37	c.17	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	3.030	-0.199869	0.06219	.	.	ENSG00000102606	ENST00000544132	.	.	.	0.637	0.637	0.17735	.	.	.	.	.	T	0.41190	0.1148	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39981	-0.9587	4	0.87932	D	0	.	.	.	.	.	.	.	.	L	6	.	ENSP00000445384:S6L	S	+	2	0	ARHGEF7	110716016	0.002000	0.14202	0.015000	0.15790	0.024000	0.10985	-0.256000	0.08757	0.608000	0.30000	0.462000	0.41574	TCA	ARHGEF7	-	NULL		0.527	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		C	NM_001113511		111918015	+1	no_errors	ENST00000544132	ensembl	human	known	70_37	missense	SNP	0.018	T
ARID1B	57492	genome.wustl.edu	37	6	157405973	157405973	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:157405973C>T	ENST00000350026.5	+	5	2177	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	ARID1B_ENST00000367148.1_Missense_Mutation_p.P726S|ARID1B_ENST00000346085.5_Missense_Mutation_p.P739S|ARID1B_ENST00000275248.4_Missense_Mutation_p.P668S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	726	Ser-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATCTCCCTCTCCTGTTGGCTC	0.547																																																	0													74.0	72.0	73.0					6																	157405973		2203	4300	6503	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2176C>T	6.37:g.157405973C>T	ENSP00000055163:p.Pro726Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.P726S	ENST00000350026.5	37	c.2176	CCDS5251.2	6	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478943	0.84747	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.998	T	0.23619	-1.0183	10	0.72032	D	0.01	.	19.7363	0.96205	0.0:1.0:0.0:0.0	.	110;726;739;668	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	S	739;726;726;668;147;110;225;148	ENSP00000344546:P739S;ENSP00000055163:P726S;ENSP00000356116:P726S;ENSP00000275248:P668S;ENSP00000412835:P225S;ENSP00000313006:P148S	ENSP00000275248:P668S	P	+	1	0	ARID1B	157447665	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	7.487000	0.81328	2.652000	0.90054	0.650000	0.86243	CCT	ARID1B	-	NULL		0.547	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARID1B	HGNC	protein_coding	OTTHUMT00000372723.1	C	NM_020732		157405973	+1	no_errors	ENST00000367148	ensembl	human	known	70_37	missense	SNP	1.000	T
ARID2	196528	genome.wustl.edu	37	12	46301283	46301283	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:46301283G>C	ENST00000334344.6	+	0	8102				ARID2_ENST00000457135.1_3'UTR|ARID2_ENST00000444670.1_3'UTR|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTCTCAGCAGAGAATTTCCT	0.343			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0																																										SO:0001624	3_prime_UTR_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.*2422G>C	12.37:g.46301283G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	RNA	SNP	-	NULL	ENST00000334344.6	37	NULL	CCDS31783.1	12																																																																																			ARID2	-	-		0.343	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	G	XM_350875		46301283	+1	no_errors	ENST00000479608	ensembl	human	known	70_37	rna	SNP	1.000	C
ARID4A	5926	genome.wustl.edu	37	14	58771670	58771670	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:58771670G>C	ENST00000355431.3	+	4	499	c.126G>C	c.(124-126)ctG>ctC	p.L42L	ARID4A_ENST00000431317.2_Silent_p.L42L|ARID4A_ENST00000348476.3_Silent_p.L42L|ARID4A_ENST00000395168.3_Silent_p.L42L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	42					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTACTCCTGAAACAGGATA	0.279																																																	0													104.0	105.0	104.0					14																	58771670		2203	4295	6498	SO:0001819	synonymous_variant	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.126G>C	14.37:g.58771670G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15991|Q15992|Q15993	Silent	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd	p.L42	ENST00000355431.3	37	c.126	CCDS9732.1	14																																																																																			ARID4A	-	NULL		0.279	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4A	HGNC	protein_coding	OTTHUMT00000276927.2	G	NM_023001		58771670	+1	no_errors	ENST00000355431	ensembl	human	known	70_37	silent	SNP	1.000	C
ARID4B	51742	genome.wustl.edu	37	1	235345845	235345845	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:235345845delC	ENST00000264183.3	-	20	2886	c.2389delG	c.(2389-2391)gaafs	p.E797fs	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.E711fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.E797fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	797					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTTCATCTTCTTCATAATCA	0.328																																																	0													144.0	126.0	132.0					1																	235345845		2203	4300	6503	SO:0001589	frameshift_variant	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2389delG	1.37:g.235345845delC	ENSP00000264183:p.Glu797fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E797fs	ENST00000264183.3	37	c.2389	CCDS31061.1	1																																																																																			ARID4B	-	NULL		0.328	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235345845	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-
ARID4B	51742	genome.wustl.edu	37	1	235345848	235345848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:235345848C>A	ENST00000264183.3	-	20	2883	c.2386G>T	c.(2386-2388)Gaa>Taa	p.E796*	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E710*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E796*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	796					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCATCTTCTTCATAATCAGTA	0.323																																																	0													139.0	123.0	128.0					1																	235345848		2203	4300	6503	SO:0001587	stop_gained	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2386G>T	1.37:g.235345848C>A	ENSP00000264183:p.Glu796*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E796*	ENST00000264183.3	37	c.2386	CCDS31061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.025856|5.025856	0.93518|0.93518	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	0.384603|.	0.29830|.	N|.	0.011092|.	.|T	.|0.80358	.|0.4608	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77830	.|-0.2442	.|3	0.06891|.	T|.	0.86|.	-9.5314|-9.5314	20.3018|20.3018	0.98617|0.98617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	796;710;796;796|195	.|.	ENSP00000264183:E796X|.	E|M	-|-	1|3	0|0	ARID4B|ARID4B	233412471|233412471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	5.359000|5.359000	0.66074|0.66074	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	GAA|ATG	ARID4B	-	NULL		0.323	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235345848	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARID4B	51742	genome.wustl.edu	37	1	235392695	235392695	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:235392695C>G	ENST00000264183.3	-	11	1245	c.748G>C	c.(748-750)Gaa>Caa	p.E250Q	ARID4B_ENST00000349213.3_Missense_Mutation_p.E250Q|ARID4B_ENST00000366603.2_Missense_Mutation_p.E250Q	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	250					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AGTGCCTGTTCAAAGGCTGGA	0.358																																																	0													76.0	71.0	73.0					1																	235392695		2203	4300	6503	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.748G>C	1.37:g.235392695C>G	ENSP00000264183:p.Glu250Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E250Q	ENST00000264183.3	37	c.748	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345060	0.24426	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.81	5.81	0.92471	RBB1NT (1);	0.043911	0.85682	D	0.000000	T	0.52306	0.1726	N	0.04880	-0.145	0.41740	D	0.989609	B;B;B;B	0.20459	0.039;0.005;0.045;0.006	B;B;B;B	0.28465	0.043;0.016;0.09;0.034	T	0.52449	-0.8574	10	0.06236	T	0.91	-13.3565	20.0763	0.97746	0.0:1.0:0.0:0.0	.	250;250;250;250	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	Q	250	ENSP00000264184:E250Q;ENSP00000355562:E250Q;ENSP00000264183:E250Q;ENSP00000391497:E250Q	ENSP00000264183:E250Q	E	-	1	0	ARID4B	233459318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.321000	0.72881	2.756000	0.94617	0.655000	0.94253	GAA	ARID4B	-	pfam_RBB1NT		0.358	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235392695	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	1.000	G
ARMC2	84071	genome.wustl.edu	37	6	109274451	109274451	+	Silent	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:109274451C>A	ENST00000392644.4	+	13	1980	c.1812C>A	c.(1810-1812)ctC>ctA	p.L604L	ARMC2_ENST00000368972.3_Silent_p.L439L	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	604										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AGGACGTGCTCATCAAGCTGA	0.667																																																	0													42.0	43.0	43.0					6																	109274451		2203	4299	6502	SO:0001819	synonymous_variant	84071			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.1812C>A	6.37:g.109274451C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Silent	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.L604	ENST00000392644.4	37	c.1812	CCDS5069.2	6																																																																																			ARMC2	-	superfamily_ARM-type_fold		0.667	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	C	NM_032131		109274451	+1	no_errors	ENST00000392644	ensembl	human	known	70_37	silent	SNP	0.998	A
ASAP1	50807	genome.wustl.edu	37	8	131249237	131249237	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:131249237G>A	ENST00000518721.1	-	4	417	c.190C>T	c.(190-192)Cta>Tta	p.L64L	ASAP1_ENST00000357668.1_Silent_p.L64L	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	64					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTTGGTCTAGAGCCTAAAAG	0.303																																																	0													50.0	48.0	49.0					8																	131249237		2203	4295	6498	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.190C>T	8.37:g.131249237G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNV3	Silent	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox	p.L64	ENST00000518721.1	37	c.190	CCDS6362.1	8																																																																																			ASAP1	-	NULL		0.303	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	G	NM_018482		131249237	-1	no_errors	ENST00000357668	ensembl	human	known	70_37	silent	SNP	1.000	A
ASH1L	55870	genome.wustl.edu	37	1	155327445	155327445	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155327445G>A	ENST00000368346.3	-	14	7545	c.6906C>T	c.(6904-6906)ccC>ccT	p.P2302P	ASH1L_ENST00000392403.3_Silent_p.P2297P|RNU6-106P_ENST00000384405.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2302					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTGTGGCCATGGGCTGGCTGT	0.438																																																	0													215.0	195.0	202.0					1																	155327445		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.6906C>T	1.37:g.155327445G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.P2302	ENST00000368346.3	37	c.6906		1																																																																																			ASH1L	-	superfamily_Bromodomain		0.438	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	G	NM_018489		155327445	-1	no_errors	ENST00000368346	ensembl	human	known	70_37	silent	SNP	0.039	A
ASPA	443	genome.wustl.edu	37	17	3379673	3379673	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:3379673G>C	ENST00000263080.2	+	1	378	c.220G>C	c.(220-222)Gac>Cac	p.D74H	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.D74H	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	74					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TCGCATTTTTGACCTTGAAAA	0.373																																																	0													164.0	144.0	151.0					17																	3379673		2203	4300	6503	SO:0001583	missense	443			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.220G>C	17.37:g.3379673G>C	ENSP00000263080:p.Asp74His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Aste_AspA,pirsf_Aspartoacylase	p.D74H	ENST00000263080.2	37	c.220	CCDS11028.1	17	.	.	.	.	.	.	.	.	.	.	g	17.17	3.321863	0.60634	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.97791	-4.54;-4.54	5.73	5.73	0.89815	.	0.137880	0.64402	D	0.000003	D	0.96018	0.8703	L	0.42245	1.32	0.80722	D	1	P	0.43909	0.821	B	0.41174	0.349	D	0.95136	0.8259	10	0.33940	T	0.23	-6.3308	19.2764	0.94032	0.0:0.0:1.0:0.0	.	74	P45381	ACY2_HUMAN	H	74	ENSP00000409976:D74H;ENSP00000263080:D74H	ENSP00000263080:D74H	D	+	1	0	ASPA	3326423	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.114000	0.64648	2.882000	0.98803	0.655000	0.94253	GAC	ASPA	-	pfam_Aste_AspA,pirsf_Aspartoacylase		0.373	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPA	HGNC	protein_coding	OTTHUMT00000207315.1	G	NM_000049		3379673	+1	no_errors	ENST00000263080	ensembl	human	known	70_37	missense	SNP	1.000	C
ASXL3	80816	genome.wustl.edu	37	18	31323015	31323015	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:31323015G>T	ENST00000269197.5	+	12	3203	c.3203G>T	c.(3202-3204)cGa>cTa	p.R1068L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1068	Ala-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R775L(1)|p.R1068L(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CGGGCCCAGCGAGAGGCTGCT	0.617																																																	2	Substitution - Missense(2)	lung(2)											22.0	24.0	24.0					18																	31323015		1858	4083	5941	SO:0001583	missense	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3203G>T	18.37:g.31323015G>T	ENSP00000269197:p.Arg1068Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.R1068L	ENST00000269197.5	37	c.3203	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103861	0.76983	.	.	ENSG00000141431	ENST00000269197	T	0.56776	0.44	5.9	5.04	0.67666	.	0.858943	0.09929	N	0.737425	T	0.72953	0.3525	M	0.69358	2.11	0.41614	D	0.988926	D	0.89917	1.0	D	0.85130	0.997	T	0.69011	-0.5258	10	0.87932	D	0	.	15.0365	0.71751	0.0687:0.0:0.9313:0.0	.	1068	Q9C0F0	ASXL3_HUMAN	L	1068	ENSP00000269197:R1068L	ENSP00000269197:R1068L	R	+	2	0	ASXL3	29577013	1.000000	0.71417	0.989000	0.46669	0.942000	0.58702	7.369000	0.79578	1.506000	0.48736	-0.133000	0.14855	CGA	ASXL3	-	NULL		0.617	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	G			31323015	+1	no_errors	ENST00000269197	ensembl	human	known	70_37	missense	SNP	1.000	T
ATAD3C	219293	genome.wustl.edu	37	1	1403903	1403903	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:1403903C>T	ENST00000378785.2	+	12	2224	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	410							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GAGCAACCCTCATCCTGAGTC	0.642																																																	0													20.0	24.0	23.0					1																	1403903		2200	4294	6494	SO:0001583	missense	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.1229C>T	1.37:g.1403903C>T	ENSP00000368062:p.Ser410Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1Z5	Missense_Mutation	SNP	pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.S410L	ENST00000378785.2	37	c.1229	CCDS44039.1	1	.	.	.	.	.	.	.	.	.	.	.	3.683	-0.065161	0.07273	.	.	ENSG00000215915	ENST00000378785	D	0.94092	-3.35	1.1	-2.19	0.07015	.	.	.	.	.	T	0.76919	0.4055	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.64715	-0.6342	9	0.26408	T	0.33	.	2.9149	0.05749	0.3758:0.2581:0.3661:0.0	.	410	Q5T2N8	ATD3C_HUMAN	L	410	ENSP00000368062:S410L	ENSP00000368062:S410L	S	+	2	0	ATAD3C	1393766	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.006000	0.13152	-1.164000	0.02790	-1.210000	0.01631	TCA	ATAD3C	-	NULL		0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3C	HGNC	protein_coding	OTTHUMT00000001279.3	C	NM_001039211		1403903	+1	no_errors	ENST00000378785	ensembl	human	known	70_37	missense	SNP	0.000	T
ATAD5	79915	genome.wustl.edu	37	17	29161319	29161319	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29161319G>C	ENST00000321990.4	+	2	598	c.220G>C	c.(220-222)Gag>Cag	p.E74Q	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	74					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ACCCACAAATGAGAAGACACA	0.378																																																	0													87.0	86.0	86.0					17																	29161319		2203	4300	6503	SO:0001583	missense	79915				CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.220G>C	17.37:g.29161319G>C	ENSP00000313171:p.Glu74Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E74Q	ENST00000321990.4	37	c.220	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888190	0.17540	.	.	ENSG00000176208	ENST00000321990	T	0.15952	2.38	5.86	5.86	0.93980	.	0.288487	0.38837	N	0.001550	T	0.35508	0.0934	M	0.68952	2.095	0.36492	D	0.868487	D	0.60575	0.988	P	0.54815	0.761	T	0.09271	-1.0682	10	0.31617	T	0.26	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	74	Q96QE3	ATAD5_HUMAN	Q	74	ENSP00000313171:E74Q	ENSP00000313171:E74Q	E	+	1	0	ATAD5	26185445	1.000000	0.71417	0.959000	0.39883	0.357000	0.29423	4.860000	0.62961	2.776000	0.95493	0.655000	0.94253	GAG	ATAD5	-	NULL		0.378	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	HGNC	protein_coding	OTTHUMT00000256206.2	G	NM_024857		29161319	+1	no_errors	ENST00000321990	ensembl	human	known	70_37	missense	SNP	0.997	C
ATF7IP2	80063	genome.wustl.edu	37	16	10551364	10551364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:10551364C>T	ENST00000396560.2	+	7	1557	c.1330C>T	c.(1330-1332)Caa>Taa	p.Q444*	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.Q444*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.Q444*|ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.Q444*	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	444					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						GTCATCAGATCAAAATAAGTC	0.294																																																	0													81.0	92.0	89.0					16																	10551364		2196	4298	6494	SO:0001587	stop_gained	80063			AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1330C>T	16.37:g.10551364C>T	ENSP00000379808:p.Gln444*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3	p.Q444*	ENST00000396560.2	37	c.1330	CCDS10540.1	16	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949362	0.53186	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000356427;ENST00000324570	.	.	.	4.15	-0.503	0.12000	.	2.313430	0.01403	N	0.013681	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.185	6.4158	0.21715	0.0:0.4207:0.0:0.5793	.	.	.	.	X	444	.	ENSP00000322811:Q444X	Q	+	1	0	ATF7IP2	10458865	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.263000	0.08670	0.049000	0.15920	-0.225000	0.12378	CAA	ATF7IP2	-	NULL		0.294	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	HGNC	protein_coding	OTTHUMT00000251961.1	C	NM_024997		10551364	+1	no_errors	ENST00000356427	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ATG2B	55102	genome.wustl.edu	37	14	96773233	96773233	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:96773233G>C	ENST00000359933.4	-	30	5217	c.4324C>G	c.(4324-4326)Caa>Gaa	p.Q1442E	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1442					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCCTGAATTTGAGATTTTTCA	0.408																																																	0													48.0	47.0	47.0					14																	96773233		2203	4300	6503	SO:0001583	missense	55102			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.4324C>G	14.37:g.96773233G>C	ENSP00000353010:p.Gln1442Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q1442E	ENST00000359933.4	37	c.4324	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	1.647	-0.514957	0.04200	.	.	ENSG00000066739	ENST00000359933	T	0.44083	0.93	5.59	5.59	0.84812	.	1.181520	0.06028	N	0.652571	T	0.34513	0.0900	L	0.33485	1.01	0.28069	N	0.932651	B	0.02656	0.0	B	0.01281	0.0	T	0.29212	-1.0019	10	0.02654	T	1	.	15.1297	0.72514	0.0:0.1409:0.8591:0.0	.	1442	Q96BY7	ATG2B_HUMAN	E	1442	ENSP00000353010:Q1442E	ENSP00000261834:Q86E	Q	-	1	0	ATG2B	95842986	1.000000	0.71417	0.013000	0.15412	0.562000	0.35680	4.437000	0.59955	2.630000	0.89119	0.514000	0.50259	CAA	ATG2B	-	NULL		0.408	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	G	NM_018036		96773233	-1	no_errors	ENST00000359933	ensembl	human	known	70_37	missense	SNP	0.549	C
ATL2	64225	genome.wustl.edu	37	2	38523698	38523698	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:38523698C>G	ENST00000378954.4	-	13	1634				ATL2_ENST00000332337.4_Missense_Mutation_p.R543P|ATL2_ENST00000546051.1_Missense_Mutation_p.R390P|ATL2_ENST00000419554.2_Missense_Mutation_p.R556P|ATL2_ENST00000452935.2_Intron|ATL2_ENST00000406122.1_Missense_Mutation_p.R390P|ATL2_ENST00000402054.1_Intron|ATL2_ENST00000539122.1_Intron	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGAACCATTCGACGTCTAGT	0.373																																																	0													86.0	78.0	81.0					2																	38523698		2203	4300	6503	SO:0001627	intron_variant	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1633-443G>C	2.37:g.38523698C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.R556P	ENST00000378954.4	37	c.1667	CCDS46260.1	2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069160	0.36470	.	.	ENSG00000119787	ENST00000406122;ENST00000332337;ENST00000419554;ENST00000546051	D;D;D;D	0.94280	-3.39;-1.59;-2.88;-3.39	5.23	5.23	0.72850	.	.	.	.	.	D	0.91751	0.7391	L	0.50333	1.59	0.30695	N	0.750951	P;B;B	0.47409	0.895;0.305;0.451	B;B;B	0.41271	0.352;0.333;0.124	D	0.90869	0.4744	9	0.51188	T	0.08	.	18.1463	0.89656	0.0:1.0:0.0:0.0	.	390;543;556	B5MCN0;Q8NHH9-4;Q8NHH9-2	.;.;.	P	390;543;556;390	ENSP00000385446:R390P;ENSP00000333393:R543P;ENSP00000415336:R556P;ENSP00000438938:R390P	ENSP00000333393:R543P	R	-	2	0	ATL2	38377202	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.166000	0.58203	2.591000	0.87537	0.563000	0.77884	CGA	ATL2	-	NULL		0.373	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	C	NM_022374		38523698	-1	no_errors	ENST00000419554	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP10D	57205	genome.wustl.edu	37	4	47538781	47538781	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:47538781G>A	ENST00000273859.3	+	9	1491	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	ATP10D_ENST00000504445.1_Missense_Mutation_p.D393N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	408					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGTGATGTGGATTTCTACAA	0.388																																																	0													59.0	60.0	60.0					4																	47538781		2203	4298	6501	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1222G>A	4.37:g.47538781G>A	ENSP00000273859:p.Asp408Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D408N	ENST00000273859.3	37	c.1222	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	27.8	4.868009	0.91587	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.71934	-0.61;-0.61	5.38	5.38	0.77491	.	0.116288	0.56097	D	0.000028	T	0.73179	0.3554	M	0.69463	2.115	0.50813	D	0.999898	B;B	0.25904	0.137;0.082	B;B	0.31245	0.094;0.126	T	0.73375	-0.4002	10	0.87932	D	0	-16.3223	18.1203	0.89569	0.0:0.0:1.0:0.0	.	408;393	Q9P241;Q6PEW3	AT10D_HUMAN;.	N	408;393	ENSP00000273859:D408N;ENSP00000420909:D393N	ENSP00000273859:D408N	D	+	1	0	ATP10D	47233538	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.737000	0.68606	2.535000	0.85469	0.650000	0.86243	GAT	ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transl		0.388	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	G	NM_020453		47538781	+1	no_errors	ENST00000273859	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP1A2	477	genome.wustl.edu	37	1	160095078	160095079	+	Intron	INS	-	-	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:160095078_160095079insT	ENST00000361216.3	+	7	837				ATP1A2_ENST00000392233.3_Intron	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide						adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGGAAAGAGTCTGAATCCTGAA	0.53																																																	0																																										SO:0001627	intron_variant	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.748+35->T	1.37:g.160095079_160095079dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	RNA	INS	-	NULL	ENST00000361216.3	37	NULL	CCDS1196.1	1																																																																																			ATP1A2	-	-		0.530	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	NM_000702		160095079	+1	no_errors	ENST00000468587	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
ATP1A2	477	genome.wustl.edu	37	1	160095080	160095080	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:160095080G>A	ENST00000361216.3	+	7	837				ATP1A2_ENST00000392233.3_Intron	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide						adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GAAAGAGTCTGAATCCTGAAT	0.527																																																	0													27.0	26.0	26.0					1																	160095080		2203	4300	6503	SO:0001627	intron_variant	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.748+37G>A	1.37:g.160095080G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	RNA	SNP	-	NULL	ENST00000361216.3	37	NULL	CCDS1196.1	1																																																																																			ATP1A2	-	-		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	G	NM_000702		160095080	+1	no_errors	ENST00000468587	ensembl	human	known	70_37	rna	SNP	0.001	A
ATP2B2	491	genome.wustl.edu	37	3	10384561	10384561	+	Missense_Mutation	SNP	G	G	A	rs368058047		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:10384561G>A	ENST00000352432.4	-	18	2861	c.2792C>T	c.(2791-2793)aCg>aTg	p.T931M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T886M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T886M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T931M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T917M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	931					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.T886M(1)|p.T931M(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGGGTCTCCGTGGGCGGCTC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)												2	Substitution - Missense(2)	endometrium(2)						G	MET/THR,MET/THR	0,4406		0,0,2203	105.0	90.0	95.0		2792,2657	3.5	0.9	3		95	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ATP2B2	NM_001001331.2,NM_001683.3	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	931/1244,886/1199	10384561	1,13005	2203	4300	6503	SO:0001583	missense	491			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2792C>T	3.37:g.10384561G>A	ENSP00000324172:p.Thr931Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O00766|Q12994|Q16818	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,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.T931M	ENST00000352432.4	37	c.2792	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	g	18.15	3.560179	0.65538	0.0	1.16E-4	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84;-3.84	3.55	3.55	0.40652	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.051756	0.85682	D	0.000000	D	0.98710	0.9567	H	0.98883	4.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.973;0.991	D	0.99513	1.0956	10	0.87932	D	0	-31.295	16.028	0.80555	0.0:0.0:1.0:0.0	.	866;898;931	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	931;886;886;931;917;866;120;787;931	ENSP00000324172:T931M;ENSP00000373311:T886M;ENSP00000380267:T886M;ENSP00000353414:T931M;ENSP00000344677:T917M;ENSP00000414854:T787M	ENSP00000342954:T931M	T	-	2	0	ATP2B2	10359561	1.000000	0.71417	0.940000	0.37924	0.712000	0.41017	5.350000	0.66016	1.930000	0.55929	0.298000	0.19748	ACG	ATP2B2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10384561	-1	no_errors	ENST00000352432	ensembl	human	known	70_37	missense	SNP	0.997	A
ATP6V0D2	245972	genome.wustl.edu	37	8	87111214	87111214	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:87111214G>C	ENST00000285393.3	+	1	149	c.7G>C	c.(7-9)Gaa>Caa	p.E3Q	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	3					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCCCATGCTCGAAGGTGCGGA	0.552																																																	0													130.0	100.0	110.0					8																	87111214		2203	4300	6503	SO:0001583	missense	245972			AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.7G>C	8.37:g.87111214G>C	ENSP00000285393:p.Glu3Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu	p.E3Q	ENST00000285393.3	37	c.7	CCDS6241.1	8	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481752	0.44147	.	.	ENSG00000147614	ENST00000521564;ENST00000523635;ENST00000285393	T	0.30448	1.53	5.65	4.76	0.60689	.	0.619058	0.15864	N	0.240866	T	0.18882	0.0453	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.07271	-1.0781	10	0.38643	T	0.18	13.0168	11.0897	0.48108	0.0:0.2394:0.7606:0.0	.	3	Q8N8Y2	VA0D2_HUMAN	Q	3	ENSP00000285393:E3Q	ENSP00000285393:E3Q	E	+	1	0	ATP6V0D2	87180330	0.885000	0.30320	0.033000	0.17914	0.064000	0.16182	3.459000	0.53021	2.659000	0.90383	0.655000	0.94253	GAA	ATP6V0D2	-	pirsf_ATPase_V0-cplx_dsu		0.552	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0D2	HGNC	protein_coding	OTTHUMT00000374651.1	G	NM_152565		87111214	+1	no_errors	ENST00000285393	ensembl	human	known	70_37	missense	SNP	0.013	C
ATP8B1	5205	genome.wustl.edu	37	18	55319361	55319361	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:55319361G>T	ENST00000283684.4	-	25	3304	c.3305C>A	c.(3304-3306)tCa>tAa	p.S1102*	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Nonsense_Mutation_p.S1102*|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1102					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCCAAAAATTGAAAAAGCATT	0.363																																																	0													75.0	69.0	71.0					18																	55319361		2203	4300	6503	SO:0001587	stop_gained	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3305C>A	18.37:g.55319361G>T	ENSP00000283684:p.Ser1102*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTP8	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1102*	ENST00000283684.4	37	c.3305	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.990761	0.99027	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	.	.	.	5.68	5.68	0.88126	.	0.133343	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	19.3909	0.94583	0.0:0.0:1.0:0.0	.	.	.	.	X	1102	.	ENSP00000283684:S1102X	S	-	2	0	ATP8B1	53470359	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	6.597000	0.74118	2.669000	0.90835	0.563000	0.77884	TCA	ATP8B1	-	NULL		0.363	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	G	NM_005603		55319361	-1	no_errors	ENST00000283684	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATP8B2	57198	genome.wustl.edu	37	1	154309881	154309881	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154309881G>A	ENST00000368489.3	+	12	994	c.994G>A	c.(994-996)Gag>Aag	p.E332K	ATP8B2_ENST00000368487.3_Missense_Mutation_p.E299K|ATP8B2_ENST00000341822.2_Missense_Mutation_p.E318K|ATP8B2_ENST00000426445.1_3'UTR|RNU7-57P_ENST00000459540.1_RNA	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	318					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCCATCTGGGAGCACGAGGT	0.552																																																	0													290.0	243.0	259.0					1																	154309881		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.994G>A	1.37:g.154309881G>A	ENSP00000357475:p.Glu332Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E332K	ENST00000368489.3	37	c.994	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735129	0.89482	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.88586	-2.4;-0.8;-0.8	5.17	5.17	0.71159	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.87402	0.6168	M	0.73319	2.225	0.80722	D	1	B;B;B	0.29481	0.087;0.245;0.077	B;B;B	0.36808	0.21;0.233;0.16	D	0.86955	0.2088	10	0.54805	T	0.06	.	17.4083	0.87479	0.0:0.0:1.0:0.0	.	318;332;299	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	K	299;332;318	ENSP00000357472:E299K;ENSP00000357475:E332K;ENSP00000340448:E318K	ENSP00000340448:E318K	E	+	1	0	ATP8B2	152576505	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.628000	0.83189	2.700000	0.92200	0.561000	0.74099	GAG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	G	NM_020452		154309881	+1	no_errors	ENST00000368489	ensembl	human	known	70_37	missense	SNP	1.000	A
ATRX	546	genome.wustl.edu	37	X	76762744	76762744	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:76762744C>T	ENST00000373344.5	-	0	8778				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_3'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AGAAAAGAAGCGCATAGAAGC	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0																																										SO:0001624	3_prime_UTR_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*1085G>A	X.37:g.76762744C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			ATRX	-	-		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	C	NM_000489		76762744	-1	no_errors	ENST00000480283	ensembl	human	known	70_37	rna	SNP	0.930	T
ATXN2L	11273	genome.wustl.edu	37	16	28847446	28847446	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:28847446G>A	ENST00000336783.4	+	22	3255	c.3088G>A	c.(3088-3090)Gag>Aag	p.E1030K	ATXN2L_ENST00000395547.2_Missense_Mutation_p.E1030K|ATXN2L_ENST00000570200.1_Missense_Mutation_p.E1030K|ATXN2L_ENST00000564304.1_Missense_Mutation_p.E1036K|ATXN2L_ENST00000382686.4_Intron|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000325215.6_Missense_Mutation_p.E1030K	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1030					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCCCAAGGTGAGCAGCCTGG	0.632																																																	0													46.0	54.0	51.0					16																	28847446		2194	4300	6494	SO:0001583	missense	11273				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3088G>A	16.37:g.28847446G>A	ENSP00000338718:p.Glu1030Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.E1030K	ENST00000336783.4	37	c.3088	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	16.71	3.199623	0.58126	.	.	ENSG00000168488	ENST00000395547;ENST00000336783;ENST00000325215	T;T;T	0.42513	0.97;0.97;0.98	5.95	5.0	0.66597	.	0.128776	0.35291	N	0.003302	T	0.21387	0.0515	N	0.08118	0	0.31435	N	0.672644	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.17592	-1.0364	9	.	.	.	-1.5018	10.0773	0.42368	0.154:0.0:0.846:0.0	.	1030;1030;1030;1030	Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-3	.;ATX2L_HUMAN;.;.	K	1030	ENSP00000378917:E1030K;ENSP00000338718:E1030K;ENSP00000315650:E1030K	.	E	+	1	0	ATXN2L	28754947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.927000	0.48900	1.523000	0.49018	0.563000	0.77884	GAG	ATXN2L	-	NULL		0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	G	NM_007245		28847446	+1	no_errors	ENST00000395547	ensembl	human	known	70_37	missense	SNP	1.000	A
AUTS2	26053	genome.wustl.edu	37	7	70252204	70252204	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:70252204C>G	ENST00000342771.4	+	18	2639	c.2318C>G	c.(2317-2319)tCa>tGa	p.S773*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.S749*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	773										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCACCCAACTCAATGTTCGGC	0.473																																																	0													53.0	43.0	46.0					7																	70252204		2203	4300	6503	SO:0001587	stop_gained	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2318C>G	7.37:g.70252204C>G	ENSP00000344087:p.Ser773*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	prints_AUTS2	p.S773*	ENST00000342771.4	37	c.2318	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.338422	0.95783	.	.	ENSG00000158321	ENST00000406775;ENST00000342771;ENST00000418686	.	.	.	5.33	5.33	0.75918	.	0.369288	0.29021	N	0.013396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.5613	19.0137	0.92884	0.0:1.0:0.0:0.0	.	.	.	.	X	749;773;53	.	.	S	+	2	0	AUTS2	69890140	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.602000	0.61098	2.505000	0.84491	0.655000	0.94253	TCA	AUTS2	-	NULL		0.473	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	C			70252204	+1	no_errors	ENST00000342771	ensembl	human	known	70_37	nonsense	SNP	1.000	G
CMC1	152100	genome.wustl.edu	37	3	28364321	28364321	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:28364321G>C	ENST00000466830.1	+	0	3721				AZI2_ENST00000479665.1_3'UTR|AZI2_ENST00000295748.3_5'UTR	NM_182523.1	NP_872329.1	Q7Z7K0	COXM1_HUMAN	C-x(9)-C motif containing 1							mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)	5						CAGTAGAAGAGATCTGAGATA	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	64343			BC052644	CCDS33722.1	3p24.1	2013-10-18	2013-10-18	2008-06-20	ENSG00000187118	ENSG00000187118			28783	protein-coding gene	gene with protein product		615166	"""chromosome 3 open reading frame 68"", ""COX assembly mitochondrial protein 1 homolog (S. cerevisiae)"""	C3orf68		18443040	Standard	NM_182523		Approved	MGC61571	uc003cea.3	Q7Z7K0	OTTHUMG00000155660	ENST00000466830.1:c.*3201G>C	3.37:g.28364321G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DJ7	RNA	SNP	-	NULL	ENST00000466830.1	37	NULL	CCDS33722.1	3																																																																																			AZI2	-	-		0.318	CMC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000341087.1	G	NM_182523		28364321	-1	no_errors	ENST00000295748	ensembl	human	known	70_37	rna	SNP	0.005	C
AZI2	64343	genome.wustl.edu	37	3	28380088	28380088	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:28380088C>T	ENST00000479665.1	-	3	766	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	AZI2_ENST00000334100.6_Missense_Mutation_p.E79K|AZI2_ENST00000420543.2_Missense_Mutation_p.E79K|AZI2_ENST00000295748.3_5'UTR|AZI2_ENST00000457172.1_Missense_Mutation_p.E79K	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	79	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTGTTTCTTCTTCAAATCGA	0.358																																																	0													104.0	93.0	97.0					3																	28380088		2202	4300	6502	SO:0001583	missense	64343			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.235G>A	3.37:g.28380088C>T	ENSP00000419371:p.Glu79Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Missense_Mutation	SNP	NULL	p.E79K	ENST00000479665.1	37	c.235	CCDS2647.1	3	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319422	0.60524	.	.	ENSG00000163512	ENST00000479665;ENST00000334100;ENST00000420543;ENST00000457172;ENST00000414162;ENST00000415852	.	.	.	6.03	6.03	0.97812	.	0.182899	0.56097	D	0.000021	T	0.54159	0.1841	M	0.65498	2.005	0.45261	D	0.998269	B;P;B;P;B	0.46142	0.061;0.649;0.011;0.873;0.219	B;B;B;B;B	0.36464	0.046;0.164;0.009;0.225;0.042	T	0.62473	-0.6847	9	0.72032	D	0.01	-9.6863	13.7134	0.62682	0.0:0.9301:0.0:0.0699	.	79;79;79;79;79	Q9H6S1-3;C9JB40;C9JGA2;C9JVK8;Q9H6S1	.;.;.;.;AZI2_HUMAN	K	79	.	ENSP00000335609:E79K	E	-	1	0	AZI2	28355092	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.347000	0.59373	2.861000	0.98227	0.655000	0.94253	GAA	AZI2	-	NULL		0.358	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	C	NM_203326		28380088	-1	no_errors	ENST00000479665	ensembl	human	known	70_37	missense	SNP	1.000	T
B3GALT5	10317	genome.wustl.edu	37	21	41032838	41032838	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:41032838G>A	ENST00000380620.4	+	5	944	c.352G>A	c.(352-354)Gac>Aac	p.D118N	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.D118N|B3GALT5_ENST00000343118.4_Missense_Mutation_p.D118N|B3GALT5_ENST00000398714.2_Missense_Mutation_p.D118N			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	118					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GCGACACGGGGACATTATCCA	0.532																																																	0													88.0	90.0	89.0					21																	41032838		2203	4300	6503	SO:0001583	missense	10317			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.352G>A	21.37:g.41032838G>A	ENSP00000369994:p.Asp118Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.D118N	ENST00000380620.4	37	c.352	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025379	0.75390	.	.	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	D	0.93452	0.7911	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95496	0.8573	10	0.87932	D	0	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	118	Q9Y2C3	B3GT5_HUMAN	N	118	ENSP00000369994:D118N;ENSP00000369992:D118N;ENSP00000343318:D118N;ENSP00000381699:D118N	ENSP00000343318:D118N	D	+	1	0	B3GALT5	39954708	1.000000	0.71417	0.086000	0.20670	0.004000	0.04260	9.661000	0.98601	2.711000	0.92665	0.655000	0.94253	GAC	B3GALT5	-	pfam_Glyco_trans_31		0.532	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT5	HGNC	protein_coding	OTTHUMT00000195008.2	G	NM_033170		41032838	+1	no_errors	ENST00000343118	ensembl	human	known	70_37	missense	SNP	1.000	A
BACH2	60468	genome.wustl.edu	37	6	90718551	90718551	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:90718551C>T	ENST00000257749.4	-	6	720	c.13G>A	c.(13-15)Gag>Aag	p.E5K	BACH2_ENST00000343122.3_Missense_Mutation_p.E5K|BACH2_ENST00000537989.1_Missense_Mutation_p.E5K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	5						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCAGGCTTCTCATCCACAGAC	0.483																																																	0													124.0	118.0	120.0					6																	90718551		2203	4300	6503	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.13G>A	6.37:g.90718551C>T	ENSP00000257749:p.Glu5Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.E5K	ENST00000257749.4	37	c.13	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.181107	0.94846	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122;ENST00000406998;ENST00000453877	T;T;T;T;T	0.65732	0.9;0.9;0.9;-0.17;-0.17	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79370	0.4434	M	0.86953	2.85	0.58432	D	0.999992	D	0.62365	0.991	D	0.69479	0.964	T	0.83239	-0.0059	10	0.87932	D	0	-11.969	18.7262	0.91714	0.0:1.0:0.0:0.0	.	5	Q9BYV9	BACH2_HUMAN	K	5	ENSP00000257749:E5K;ENSP00000437473:E5K;ENSP00000345642:E5K;ENSP00000384145:E5K;ENSP00000397668:E5K	ENSP00000257749:E5K	E	-	1	0	BACH2	90775272	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.181000	0.77682	2.507000	0.84556	0.591000	0.81541	GAG	BACH2	-	NULL		0.483	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	C	NM_021813		90718551	-1	no_errors	ENST00000257749	ensembl	human	known	70_37	missense	SNP	1.000	T
BAGE2	85319	genome.wustl.edu	37	21	11058273	11058273	+	RNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:11058273C>G	ENST00000470054.1	-	0	374							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGTACATTTCTCTTCACAGC	0.418																																																	0													109.0	85.0	92.0					21																	11058273		692	1591	2283			85319			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058273C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K925|Q08ER0	RNA	SNP	-	NULL	ENST00000470054.1	37	NULL		21																																																																																			BAGE2	-	-		0.418	BAGE2-001	KNOWN	basic	processed_transcript	BAGE2	HGNC	pseudogene	OTTHUMT00000157417.3	C	NM_182482		11058273	-1	no_errors	ENST00000470054	ensembl	human	known	70_37	rna	SNP	1.000	G
BAI1	575	genome.wustl.edu	37	8	143559620	143559620	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:143559620G>A	ENST00000517894.1	+	7	2354	c.1460G>A	c.(1459-1461)cGa>cAa	p.R487Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R487Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	487	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCCAGGGCCGACAGCAGCGC	0.672																																																	0													19.0	25.0	23.0					8																	143559620		2057	4199	6256	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1460G>A	8.37:g.143559620G>A	ENSP00000430945:p.Arg487Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.R487Q	ENST00000517894.1	37	c.1460		8	.	.	.	.	.	.	.	.	.	.	G	29.7	5.030219	0.93575	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.51325	0.71;0.71	4.54	3.63	0.41609	.	0.088844	0.48286	U	0.000183	T	0.31071	0.0785	N	0.11106	0.095	0.29346	N	0.865657	D	0.53885	0.963	P	0.46275	0.51	T	0.12477	-1.0546	10	0.35671	T	0.21	.	10.81	0.46540	0.0:0.4517:0.5483:0.0	.	487	E9PBK0	.	Q	487	ENSP00000430945:R487Q;ENSP00000313046:R487Q	ENSP00000313046:R487Q	R	+	2	0	BAI1	143556622	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.432000	0.73400	2.031000	0.59945	0.455000	0.32223	CGA	BAI1	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.672	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143559620	+1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	1.000	A
BAI2	576	genome.wustl.edu	37	1	32201189	32201189	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:32201189C>T	ENST00000373658.3	-	24	3686	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	BAI2_ENST00000257070.4_Silent_p.Q1115Q|BAI2_ENST00000398542.1_Silent_p.Q1048Q|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.Q757Q|BAI2_ENST00000398547.1_Silent_p.Q1048Q|BAI2_ENST00000398538.1_Silent_p.Q1103Q|BAI2_ENST00000373655.2_Silent_p.Q1115Q|BAI2_ENST00000527361.1_Silent_p.Q1115Q|BAI2_ENST00000398556.3_Silent_p.Q1063Q	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1115					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCCGGCCCTCTGCTTCTTGG	0.572																																																	0													50.0	45.0	47.0					1																	32201189		2203	4300	6503	SO:0001819	synonymous_variant	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3345G>A	1.37:g.32201189C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.Q1115	ENST00000373658.3	37	c.3345	CCDS346.2	1																																																																																			BAI2	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.572	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32201189	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	silent	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	69728301	69728301	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:69728301G>C	ENST00000370598.1	+	13	2838	c.2017G>C	c.(2017-2019)Gag>Cag	p.E673Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	673					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGGGTCAATAGAGTTAATGCA	0.294																																																	0													122.0	129.0	127.0					6																	69728301		2203	4300	6503	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2017G>C	6.37:g.69728301G>C	ENSP00000359630:p.Glu673Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E673Q	ENST00000370598.1	37	c.2017	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570757	0.86542	.	.	ENSG00000135298	ENST00000370598	T	0.09817	2.94	6.08	6.08	0.98989	Domain of unknown function DUF3497 (1);	0.058601	0.64402	D	0.000002	T	0.14184	0.0343	L	0.47716	1.5	0.80722	D	1	D	0.57257	0.979	P	0.57204	0.815	T	0.05115	-1.0905	10	0.17369	T	0.5	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	673	O60242	BAI3_HUMAN	Q	673	ENSP00000359630:E673Q	ENSP00000359630:E673Q	E	+	1	0	BAI3	69785022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.474000	0.97718	2.894000	0.99253	0.591000	0.81541	GAG	BAI3	-	pfam_DUF3497		0.294	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	G			69728301	+1	no_errors	ENST00000370598	ensembl	human	known	70_37	missense	SNP	1.000	C
BAIAP3	8938	genome.wustl.edu	37	16	1388903	1388903	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1388903G>C	ENST00000324385.5	+	3	395	c.237G>C	c.(235-237)tgG>tgC	p.W79C	BAIAP3_ENST00000397489.1_Splice_Site_p.W44C|BAIAP3_ENST00000562208.1_Splice_Site_p.W44C|BAIAP3_ENST00000397488.2_Splice_Site_p.W44C|BAIAP3_ENST00000426824.3_Splice_Site_p.W44C|BAIAP3_ENST00000421665.2_Splice_Site_p.W44C|BAIAP3_ENST00000568887.1_Splice_Site_p.W44C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	79					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CTTTCTCCAGGAAACCCGGGG	0.637																																																	0													79.0	85.0	83.0					16																	1388903		2199	4300	6499	SO:0001630	splice_region_variant	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.237-1G>C	16.37:g.1388903G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.W79C	ENST00000324385.5	37	c.237	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027465	0.35797	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71698	-0.54;-0.55;-0.56;-0.55;-0.59	4.04	4.04	0.47022	.	0.405411	0.22692	N	0.056818	T	0.76321	0.3971	L	0.54323	1.7	0.58432	D	0.999998	D;D;D;D;D	0.71674	0.998;0.998;0.993;0.995;0.998	P;P;P;P;P	0.61132	0.628;0.884;0.628;0.547;0.747	T	0.75628	-0.3252	9	.	.	.	.	11.5512	0.50721	0.0:0.0:1.0:0.0	.	44;79;44;79;44	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	C	44;44;79;44;44	ENSP00000407242:W44C;ENSP00000380625:W44C;ENSP00000324510:W79C;ENSP00000380626:W44C;ENSP00000409533:W44C	.	W	+	3	0	BAIAP3	1328904	1.000000	0.71417	0.950000	0.38849	0.331000	0.28603	3.367000	0.52350	2.073000	0.62155	0.484000	0.47621	TGG	BAIAP3	-	NULL		0.637	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G		Missense_Mutation	1388903	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	0.996	C
BAIAP3	8938	genome.wustl.edu	37	16	1389502	1389502	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1389502G>C	ENST00000324385.5	+	5	569	c.411G>C	c.(409-411)gaG>gaC	p.E137D	BAIAP3_ENST00000397489.1_Missense_Mutation_p.E119D|BAIAP3_ENST00000562208.1_Intron|BAIAP3_ENST00000397488.2_Missense_Mutation_p.E119D|BAIAP3_ENST00000426824.3_Missense_Mutation_p.E102D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.E102D|BAIAP3_ENST00000568887.1_Intron	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	137					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCAGGTGGAGATGCTCTACG	0.687																																																	0													52.0	48.0	49.0					16																	1389502		2196	4298	6494	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.411G>C	16.37:g.1389502G>C	ENSP00000324510:p.Glu137Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E137D	ENST00000324385.5	37	c.411	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	0.974	-0.699278	0.03279	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.73363	-0.72;-0.64;-0.74;-0.64;-0.67	4.0	-0.685	0.11328	.	0.252045	0.37761	N	0.001954	T	0.57975	0.2090	L	0.38175	1.15	0.33549	D	0.59588	B;B;B;B	0.11235	0.001;0.004;0.001;0.001	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.50154	-0.8861	10	0.37606	T	0.19	-18.7806	7.2358	0.26070	0.1883:0.2669:0.5448:0.0	.	102;154;137;119	E7EUB9;B4DGA2;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	D	102;119;137;119;102	ENSP00000407242:E102D;ENSP00000380625:E119D;ENSP00000324510:E137D;ENSP00000380626:E119D;ENSP00000409533:E102D	ENSP00000324510:E137D	E	+	3	2	BAIAP3	1329503	0.970000	0.33590	0.995000	0.50966	0.005000	0.04900	0.186000	0.16978	-0.208000	0.10171	-2.716000	0.00133	GAG	BAIAP3	-	NULL		0.687	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G			1389502	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	0.898	C
BARX2	8538	genome.wustl.edu	37	11	129306798	129306798	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:129306798G>A	ENST00000281437.4	+	2	436	c.340G>A	c.(340-342)Gag>Aag	p.E114K	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	114					cartilage condensation (GO:0001502)|catagen (GO:0042637)|myotube differentiation (GO:0014902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCAGGGGGCGAGGCCCTAGC	0.682																																																	0													34.0	40.0	38.0					11																	129306798		2201	4297	6498	SO:0001583	missense	8538			AF031924	CCDS8481.1	11q24.3	2011-06-20	2007-07-09		ENSG00000043039	ENSG00000043039		"""Homeoboxes / ANTP class : NKL subclass"""	956	protein-coding gene	gene with protein product		604823	"""BarH-like homeobox 2"""			10644443	Standard	NM_003658		Approved		uc001qfc.4	Q9UMQ3	OTTHUMG00000165776	ENST00000281437.4:c.340G>A	11.37:g.129306798G>A	ENSP00000281437:p.Glu114Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43518|Q6NT51	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.E114K	ENST00000281437.4	37	c.340	CCDS8481.1	11	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288815	0.40494	.	.	ENSG00000043039	ENST00000281437	D	0.90261	-2.64	5.76	5.76	0.90799	Homeodomain-related (1);	0.272597	0.31709	N	0.007184	T	0.81616	0.4860	L	0.29908	0.895	0.80722	D	1	P	0.42161	0.772	B	0.24394	0.053	T	0.81411	-0.0945	10	0.12430	T	0.62	.	18.5398	0.91023	0.0:0.0:1.0:0.0	.	114	Q9UMQ3	BARX2_HUMAN	K	114	ENSP00000281437:E114K	ENSP00000281437:E114K	E	+	1	0	BARX2	128812008	1.000000	0.71417	0.576000	0.28549	0.052000	0.14988	7.106000	0.77039	2.713000	0.92767	0.655000	0.94253	GAG	BARX2	-	NULL		0.682	BARX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARX2	HGNC	protein_coding	OTTHUMT00000386153.1	G	NM_003658		129306798	+1	no_errors	ENST00000281437	ensembl	human	known	70_37	missense	SNP	0.997	A
BAZ2B	29994	genome.wustl.edu	37	2	160287406	160287406	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:160287406G>C	ENST00000392783.2	-	10	2657	c.2162C>G	c.(2161-2163)tCt>tGt	p.S721C	BAZ2B_ENST00000355831.2_Missense_Mutation_p.S721C|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S719C|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTGGAAGAAGATGTACCAAG	0.418																																																	0													127.0	122.0	124.0					2																	160287406		1903	4130	6033	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2162C>G	2.37:g.160287406G>C	ENSP00000376534:p.Ser721Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S721C	ENST00000392783.2	37	c.2162	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	G	10.79	1.449931	0.26074	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831	T;T;T	0.23950	1.88;1.88;1.88	5.64	5.64	0.86602	DNA-binding, integrase-type (1);	0.245701	0.20816	U	0.085150	T	0.34483	0.0899	L	0.27053	0.805	0.80722	D	1	P;D;D	0.63046	0.948;0.992;0.968	P;P;P	0.57468	0.54;0.821;0.547	T	0.04191	-1.0970	10	0.56958	D	0.05	-2.4105	16.6706	0.85266	0.0:0.1294:0.8706:0.0	.	525;719;721	Q9UIF8-4;Q9UIF8-5;Q9UIF8	.;.;BAZ2B_HUMAN	C	719;721;721	ENSP00000376533:S719C;ENSP00000376534:S721C;ENSP00000348087:S721C	ENSP00000348087:S721C	S	-	2	0	BAZ2B	159995652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.286000	0.65639	2.659000	0.90383	0.643000	0.83706	TCT	BAZ2B	-	superfamily_DNA-bd_integrase-typ		0.418	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	G			160287406	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	C
BCAR3	8412	genome.wustl.edu	37	1	94079453	94079453	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:94079453G>C	ENST00000370244.1	-	6	646				BCAR3_ENST00000370247.3_Nonsense_Mutation_p.S12*|BCAR3_ENST00000260502.6_Intron|BCAR3_ENST00000370243.1_Intron	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3						lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAGCTGCTGAGAGGGCGTG	0.493																																																	0																																										SO:0001627	intron_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.358-21503C>G	1.37:g.94079453G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Nonsense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.S12*	ENST00000370244.1	37	c.35	CCDS745.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.081418	0.97267	.	.	ENSG00000137936	ENST00000370247	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.9993	0.47596	0.1127:0.0:0.8873:0.0	.	.	.	.	X	12	.	ENSP00000359267:S12X	S	-	2	0	BCAR3	93852041	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	5.100000	0.64560	2.733000	0.93635	0.655000	0.94253	TCA	BCAR3	-	NULL		0.493	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	G			94079453	-1	no_errors	ENST00000370247	ensembl	human	known	70_37	nonsense	SNP	0.993	C
BCAS4	55653	genome.wustl.edu	37	20	49458338	49458338	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:49458338C>G	ENST00000358791.5	+	4	490	c.390C>G	c.(388-390)ttC>ttG	p.F130L	BCAS4_ENST00000609336.1_Missense_Mutation_p.F100L|BCAS4_ENST00000371608.2_Missense_Mutation_p.F130L|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	130						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACGTCGCCTTCCTGGAAGCAG	0.642																																																	0													70.0	55.0	60.0					20																	49458338		2203	4300	6503	SO:0001583	missense	55653			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.390C>G	20.37:g.49458338C>G	ENSP00000351642:p.Phe130Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	NULL	p.F130L	ENST00000358791.5	37	c.390	CCDS33487.1	20	.	.	.	.	.	.	.	.	.	.	C	2.067	-0.413923	0.04799	.	.	ENSG00000124243	ENST00000358791;ENST00000355583;ENST00000371608	T;T	0.43294	1.95;0.95	4.48	2.5	0.30297	.	0.356145	0.29791	N	0.011191	T	0.23410	0.0566	N	0.17474	0.49	0.80722	D	1	B;B	0.19935	0.015;0.04	B;B	0.23018	0.011;0.043	T	0.04386	-1.0955	10	0.25106	T	0.35	-10.8147	7.4603	0.27291	0.0:0.7884:0.0:0.2116	.	130;130	Q8TDM0-3;Q8TDM0	.;BCAS4_HUMAN	L	130	ENSP00000351642:F130L;ENSP00000360669:F130L	ENSP00000347789:F130L	F	+	3	2	BCAS4	48891745	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	0.971000	0.29396	0.890000	0.36211	0.561000	0.74099	TTC	BCAS4	-	NULL		0.642	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS4	HGNC	protein_coding	OTTHUMT00000079700.1	C	NM_017843		49458338	+1	no_errors	ENST00000358791	ensembl	human	known	70_37	missense	SNP	1.000	G
BCL2L12	83596	genome.wustl.edu	37	19	50169213	50169213	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:50169213C>G	ENST00000246785.3	+	1	391	c.133C>G	c.(133-135)Cga>Gga	p.R45G	IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000377139.3_5'Flank|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R45G|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R45G|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|IRF3_ENST00000600022.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000442265.2_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	45					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		GGCCGGTTATCGACCCGGCCC	0.592																																																	0													24.0	25.0	25.0					19																	50169213		2203	4300	6503	SO:0001583	missense	83596			AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.133C>G	19.37:g.50169213C>G	ENSP00000246785:p.Arg45Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	NULL	p.R45G	ENST00000246785.3	37	c.133	CCDS12776.1	19	.	.	.	.	.	.	.	.	.	.	C	10.77	1.443421	0.25987	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.55234	0.74;0.74;0.53	3.62	2.57	0.30868	.	0.856397	0.09477	U	0.796873	T	0.31670	0.0804	N	0.08118	0	0.09310	N	1	B;B	0.19200	0.034;0.034	B;B	0.20577	0.03;0.03	T	0.21724	-1.0237	10	0.49607	T	0.09	-0.4621	7.0056	0.24833	0.0:0.8742:0.0:0.1258	.	45;45	Q3SY13;Q9HB09	.;B2L12_HUMAN	G	45	ENSP00000246785:R45G;ENSP00000393803:R45G;ENSP00000246784:R45G	ENSP00000246784:R45G	R	+	1	2	BCL2L12	54861025	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.268000	0.18571	1.114000	0.41781	0.467000	0.42956	CGA	BCL2L12	-	NULL		0.592	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	HGNC	protein_coding	OTTHUMT00000465770.1	C	NM_052842		50169213	+1	no_errors	ENST00000246785	ensembl	human	known	70_37	missense	SNP	0.001	G
BDP1	55814	genome.wustl.edu	37	5	70805710	70805710	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:70805710G>A	ENST00000358731.4	+	17	3054	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	931	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATTTGGAAGAAGCTGGAAG	0.448																																																	0													78.0	79.0	79.0					5																	70805710		1859	4091	5950	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2791G>A	5.37:g.70805710G>A	ENSP00000351575:p.Glu931Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E931K	ENST00000358731.4	37	c.2791	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710981	0.48517	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19532	2.14	3.05	2.17	0.27698	.	.	.	.	.	T	0.37972	0.1023	M	0.66939	2.045	0.22803	N	0.998714	P;D;D	0.71674	0.703;0.998;0.989	B;D;P	0.80764	0.145;0.994;0.796	T	0.08289	-1.0729	9	0.38643	T	0.18	.	6.1337	0.20219	0.1415:0.0:0.8585:0.0	.	931;931;931	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	931;511	ENSP00000351575:E931K	ENSP00000351575:E931K	E	+	1	0	BDP1	70841466	0.163000	0.22920	0.010000	0.14722	0.133000	0.20885	2.083000	0.41615	0.856000	0.35383	0.467000	0.42956	GAA	BDP1	-	NULL		0.448	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70805710	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.019	A
BDP1	55814	genome.wustl.edu	37	5	70806877	70806877	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:70806877G>C	ENST00000358731.4	+	17	4221	c.3958G>C	c.(3958-3960)Gaa>Caa	p.E1320Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1320	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTCTCCAAGGGAAAACGAGCT	0.408																																																	0													106.0	102.0	103.0					5																	70806877		1904	4124	6028	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3958G>C	5.37:g.70806877G>C	ENSP00000351575:p.Glu1320Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E1320Q	ENST00000358731.4	37	c.3958	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717668	0.30413	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19806	2.12	3.14	0.0384	0.14200	.	1.279340	0.05652	N	0.585444	T	0.16981	0.0408	L	0.29908	0.895	0.19775	N	0.999952	P;P;P	0.52316	0.728;0.902;0.952	B;B;B	0.44133	0.33;0.442;0.385	T	0.21999	-1.0229	10	0.49607	T	0.09	.	5.3933	0.16255	0.4619:0.0:0.5381:0.0	.	1320;1320;1320	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	Q	1320;900	ENSP00000351575:E1320Q	ENSP00000351575:E1320Q	E	+	1	0	BDP1	70842633	0.901000	0.30685	0.020000	0.16555	0.085000	0.17905	0.122000	0.15687	-0.004000	0.14419	0.462000	0.41574	GAA	BDP1	-	NULL		0.408	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2	G	NM_018429		70806877	+1	no_errors	ENST00000358731	ensembl	human	known	70_37	missense	SNP	0.030	C
BECN1	8678	genome.wustl.edu	37	17	40963707	40963707	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40963707C>G	ENST00000361523.4	-	11	1282	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q	BECN1_ENST00000590099.1_Missense_Mutation_p.E384Q|BECN1_ENST00000438274.3_Intron	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	384					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TCGCCTTTCTCAACCTCTTCT	0.458																																																	0													191.0	164.0	173.0					17																	40963707		2203	4300	6503	SO:0001583	missense	8678			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"""ATG6 autophagy related 6 homolog (S. cerevisiae)"""	604378	"""beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"""			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.1150G>C	17.37:g.40963707C>G	ENSP00000355231:p.Glu384Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	pfam_Beclin_fam,superfamily_Translin	p.E384Q	ENST00000361523.4	37	c.1150	CCDS11441.1	17	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910275	0.92107	.	.	ENSG00000126581	ENST00000361523;ENST00000543382	T	0.47177	0.85	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.67683	0.2919	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.57980	-0.7717	10	0.27082	T	0.32	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	384	Q14457	BECN1_HUMAN	Q	384;297	ENSP00000355231:E384Q	ENSP00000355231:E384Q	E	-	1	0	BECN1	38217233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	GAG	BECN1	-	pfam_Beclin_fam		0.458	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	HGNC	protein_coding	OTTHUMT00000452405.1	C	NM_003766		40963707	-1	no_errors	ENST00000361523	ensembl	human	known	70_37	missense	SNP	1.000	G
BEST1	7439	genome.wustl.edu	37	11	61730086	61730086	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:61730086C>G	ENST00000378043.4	+	10	2103	c.1460C>G	c.(1459-1461)tCa>tGa	p.S487*	BEST1_ENST00000301774.9_Nonsense_Mutation_p.S115*|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_Nonsense_Mutation_p.S427*|BEST1_ENST00000378042.3_Nonsense_Mutation_p.S400*|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	487					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TCAGCGCCGTCAAAGCTTCAC	0.522																																																	0													77.0	70.0	72.0					11																	61730086		2202	4299	6501	SO:0001587	stop_gained	7439			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1460C>G	11.37:g.61730086C>G	ENSP00000367282:p.Ser487*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Nonsense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.S427*	ENST00000378043.4	37	c.1280	CCDS31580.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.041473	0.98624	.	.	ENSG00000167995	ENST00000378043;ENST00000378042;ENST00000301774;ENST00000449131	.	.	.	4.96	-0.255	0.12988	.	0.932315	0.08813	N	0.889966	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	0.2829	2.8289	0.05494	0.1939:0.37:0.3205:0.1155	.	.	.	.	X	487;400;115;427	.	ENSP00000301774:S115X	S	+	2	0	BEST1	61486662	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.306000	0.19279	0.063000	0.16370	-0.165000	0.13383	TCA	BEST1	-	NULL		0.522	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	C	NM_004183		61730086	+1	no_errors	ENST00000449131	ensembl	human	known	70_37	nonsense	SNP	0.000	G
BGN	633	genome.wustl.edu	37	X	152772340	152772340	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:152772340C>T	ENST00000331595.4	+	6	915	c.729C>T	c.(727-729)gcC>gcT	p.A243A	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	243					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAATCCAGGCCATCGAACTGG	0.602																																																	0													172.0	151.0	158.0					X																	152772340		2203	4300	6503	SO:0001819	synonymous_variant	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.729C>T	X.37:g.152772340C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWU3|P13247	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.A243	ENST00000331595.4	37	c.729	CCDS14721.1	X																																																																																			BGN	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan		0.602	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	C	NM_001711		152772340	+1	no_errors	ENST00000331595	ensembl	human	known	70_37	silent	SNP	0.050	T
BHLHE40-AS1	100507582	genome.wustl.edu	37	3	4942300	4942300	+	RNA	SNP	T	T	G	rs3762783	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:4942300T>G	ENST00000420832.1	-	0	389				BHLHE40-AS1_ENST00000438479.1_RNA|BHLHE40-AS1_ENST00000434530.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA					BHLHE40 antisense RNA 1																		gtgaactttttttgcaaagga	0.438																																																	0																																												100507582			AK056892, AK311646		3p26.1	2012-11-01			ENSG00000235831	ENSG00000235831		"""Long non-coding RNAs"""	44471	non-coding RNA	RNA, long non-coding							Standard	NR_125916		Approved		uc010hce.2		OTTHUMG00000155242		3.37:g.4942300T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000420832.1	37	NULL		3																																																																																			BHLHE40-AS1	-	-		0.438	BHLHE40-AS1-001	KNOWN	basic	antisense	BHLHE40-AS1	HGNC	antisense	OTTHUMT00000338958.1	T			4942300	-1	no_errors	ENST00000420832	ensembl	human	known	70_37	rna	SNP	0.000	G
BIN2	51411	genome.wustl.edu	37	12	51685700	51685700	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:51685700C>G	ENST00000267012.4	-	10	1251	c.1190G>C	c.(1189-1191)gGa>gCa	p.G397A	BIN2_ENST00000544402.1_Missense_Mutation_p.G371A|BIN2_ENST00000452142.2_Missense_Mutation_p.G365A|BIN2_ENST00000604560.1_Missense_Mutation_p.G370A	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	397					cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTGTTCAGATCCTTCACTTGC	0.597																																																	0													91.0	84.0	86.0					12																	51685700		2203	4300	6503	SO:0001583	missense	51411			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1190G>C	12.37:g.51685700C>G	ENSP00000267012:p.Gly397Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.G397A	ENST00000267012.4	37	c.1190	CCDS8811.1	12	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949725	0.34377	.	.	ENSG00000110934	ENST00000452142;ENST00000267012;ENST00000544402	D;T;T	0.96651	-4.08;-0.22;-0.37	4.62	3.73	0.42828	.	0.790691	0.11412	N	0.566705	D	0.95796	0.8632	L	0.36672	1.1	0.30201	N	0.798606	D;D;D	0.69078	0.997;0.994;0.996	D;P;P	0.63957	0.92;0.887;0.835	D	0.90981	0.4827	10	0.29301	T	0.29	-10.4129	8.7846	0.34811	0.0:0.8969:0.0:0.1031	.	371;365;397	F5H0W4;Q9UBW5-2;Q9UBW5	.;.;BIN2_HUMAN	A	365;397;371	ENSP00000410217:G365A;ENSP00000267012:G397A;ENSP00000445874:G371A	ENSP00000267012:G397A	G	-	2	0	BIN2	49971967	0.836000	0.29430	0.856000	0.33681	0.092000	0.18411	1.254000	0.32897	1.317000	0.45149	0.655000	0.94253	GGA	BIN2	-	NULL		0.597	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	C			51685700	-1	no_errors	ENST00000267012	ensembl	human	known	70_37	missense	SNP	0.900	G
BNC2	54796	genome.wustl.edu	37	9	16436783	16436783	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:16436783C>G	ENST00000380672.4	-	6	1466	c.1409G>C	c.(1408-1410)cGa>cCa	p.R470P	BNC2_ENST00000380667.2_Missense_Mutation_p.R403P|BNC2_ENST00000380666.2_Missense_Mutation_p.R470P|BNC2_ENST00000545497.1_Missense_Mutation_p.R375P	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AATGGTGCATCGATGTTTGAT	0.448																																																	0													141.0	131.0	134.0					9																	16436783		2203	4300	6503	SO:0001583	missense	54796			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1409G>C	9.37:g.16436783C>G	ENSP00000370047:p.Arg470Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R470P	ENST00000380672.4	37	c.1409	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083555	0.55861	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.998;0.999;0.999;1.0	D;D;D;D;D;P;D;D;D	0.87578	0.991;0.96;0.998;0.974;0.917;0.827;0.982;0.96;0.998	T	0.39375	-0.9617	10	0.51188	T	0.08	-8.8765	20.6439	0.99570	0.0:1.0:0.0:0.0	.	375;403;470;296;470;427;470;375;235	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	P	470;427;403;375;296;470;470	ENSP00000370047:R470P;ENSP00000408370:R427P;ENSP00000370042:R403P;ENSP00000444640:R375P;ENSP00000370041:R470P	ENSP00000370041:R470P	R	-	2	0	BNC2	16426783	0.999000	0.42202	0.986000	0.45419	0.947000	0.59692	4.094000	0.57721	2.884000	0.98904	0.655000	0.94253	CGA	BNC2	-	smart_Znf_C2H2-like		0.448	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	C	NM_017637		16436783	-1	no_errors	ENST00000380672	ensembl	human	known	70_37	missense	SNP	1.000	G
BORA	79866	genome.wustl.edu	37	13	73319333	73319333	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73319333G>A	ENST00000390667.5	+	8	823	c.726G>A	c.(724-726)caG>caA	p.Q242Q	BORA_ENST00000377815.3_Silent_p.Q172Q	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	242	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GCCCCTTGCAGACACCAAGTT	0.428																																																	0													57.0	54.0	55.0					13																	73319333		1847	4085	5932	SO:0001819	synonymous_variant	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.726G>A	13.37:g.73319333G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	prints_Aurora_borealis_protien	p.Q242	ENST00000390667.5	37	c.726	CCDS9446.1	13																																																																																			BORA	-	NULL		0.428	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	G	NM_024808		73319333	+1	no_errors	ENST00000390667	ensembl	human	known	70_37	silent	SNP	0.998	A
BPIFB2	80341	genome.wustl.edu	37	20	31608159	31608159	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:31608159C>G	ENST00000170150.3	+	12	1301	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	369						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.S369F(1)									CTCCAGCTCTCTGTGTCCAAG	0.617																																																	1	Substitution - Missense(1)	skin(1)											110.0	95.0	100.0					20																	31608159		2203	4300	6503	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1106C>G	20.37:g.31608159C>G	ENSP00000170150:p.Ser369Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C	p.S369C	ENST00000170150.3	37	c.1106	CCDS13210.1	20	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522345	0.44866	.	.	ENSG00000078898	ENST00000170150	T	0.10763	2.84	4.24	3.3	0.37823	.	0.264028	0.27531	N	0.018956	T	0.25717	0.0626	M	0.74647	2.275	0.33936	D	0.642676	D	0.67145	0.996	P	0.62649	0.905	T	0.35649	-0.9780	10	0.56958	D	0.05	-11.0811	7.9208	0.29846	0.0:0.8896:0.0:0.1104	.	369	Q8N4F0	BPIB2_HUMAN	C	369	ENSP00000170150:S369C	ENSP00000170150:S369C	S	+	2	0	BPIFB2	31071820	0.001000	0.12720	0.953000	0.39169	0.811000	0.45836	-0.068000	0.11561	1.383000	0.46405	0.561000	0.74099	TCT	BPIFB2	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.617	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB2	HGNC	protein_coding	OTTHUMT00000078652.2	C	NM_025227		31608159	+1	no_errors	ENST00000170150	ensembl	human	known	70_37	missense	SNP	0.959	G
BPIFA3	128861	genome.wustl.edu	37	20	31814183	31814183	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:31814183C>T	ENST00000375454.3	+	5	746				BPIFA3_ENST00000375452.3_Intron|BPIFA3_ENST00000490499.1_3'UTR	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3							extracellular region (GO:0005576)	lipid binding (GO:0008289)										TTGCTCTGTTCTGTTCTGTGC	0.428																																																	0													79.0	72.0	75.0					20																	31814183		2203	4300	6503	SO:0001627	intron_variant	128861				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.537-29C>T	20.37:g.31814183C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JWG8|Q6NZ38	RNA	SNP	-	NULL	ENST00000375454.3	37	NULL	CCDS13216.2	20																																																																																			BPIFA3	-	-		0.428	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BPIFA3	HGNC	protein_coding	OTTHUMT00000078672.1	C	NM_178466		31814183	+1	no_errors	ENST00000490499	ensembl	human	known	70_37	rna	SNP	0.000	T
BPIFC	254240	genome.wustl.edu	37	22	32828450	32828450	+	Silent	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:32828450T>A	ENST00000397452.1	-	11	1169	c.1059A>T	c.(1057-1059)ccA>ccT	p.P353P	BPIFC_ENST00000534972.1_Silent_p.P77P|BPIFC_ENST00000300399.3_Silent_p.P353P|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	353						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										TGAAATTGCCTGGTTGTAGAT	0.502																																																	0													296.0	270.0	279.0					22																	32828450		2203	4300	6503	SO:0001819	synonymous_variant	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1059A>T	22.37:g.32828450T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRF1	Silent	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.P353	ENST00000397452.1	37	c.1059	CCDS13906.1	22																																																																																			BPIFC	-	pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C		0.502	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	T	NM_174932		32828450	-1	no_errors	ENST00000300399	ensembl	human	known	70_37	silent	SNP	0.000	A
BRAF	673	genome.wustl.edu	37	7	140477862	140477862	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:140477862C>T	ENST00000288602.6	-	12	1506	c.1446G>A	c.(1444-1446)gtG>gtA	p.V482V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCAACATTTTCACTGCCACAT	0.353		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0													114.0	100.0	105.0					7																	140477862		2203	4300	6503	SO:0001819	synonymous_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1446G>A	7.37:g.140477862C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.V482	ENST00000288602.6	37	c.1446	CCDS5863.1	7																																																																																			BRAF	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.353	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	C	NM_004333		140477862	-1	no_errors	ENST00000288602	ensembl	human	known	70_37	silent	SNP	1.000	T
BRCC3	79184	genome.wustl.edu	37	X	154306951	154306951	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:154306951C>T	ENST00000369462.1	+	5	401	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	BRCC3_ENST00000369459.2_Missense_Mutation_p.H126Y|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Missense_Mutation_p.H127Y|BRCC3_ENST00000330045.7_Missense_Mutation_p.H126Y|BRCC3_ENST00000399042.1_Missense_Mutation_p.H126Y	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	126	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCCCATCCTCATATAACTGT	0.408																																																	0													102.0	85.0	90.0					X																	154306951		1892	4110	6002	SO:0001583	missense	79184			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"""Lys-63-specific deubiquitinase"""	300617	"""chromosome X open reading frame 53"""	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.376C>T	X.37:g.154306951C>T	ENSP00000358474:p.His126Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Missense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.H126Y	ENST00000369462.1	37	c.376	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348848	0.82132	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.72851	0.3512	M	0.82323	2.585	0.80722	D	1	D;D	0.71674	0.983;0.998	P;D	0.68039	0.756;0.955	T	0.77411	-0.2598	10	0.62326	D	0.03	-12.4474	14.9062	0.70721	0.0:1.0:0.0:0.0	.	126;126	P46736-2;P46736	.;BRCC3_HUMAN	Y	127;126;126;126;102;126;126;68	ENSP00000344103:H127Y;ENSP00000328641:H126Y;ENSP00000358471:H126Y;ENSP00000358474:H126Y;ENSP00000413170:H102Y;ENSP00000381998:H126Y;ENSP00000381988:H68Y	ENSP00000328641:H126Y	H	+	1	0	BRCC3	153960145	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	7.145000	0.77365	2.324000	0.78689	0.415000	0.27848	CAT	BRCC3	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1		0.408	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	HGNC	protein_coding	OTTHUMT00000058788.4	C	NM_024332		154306951	+1	no_errors	ENST00000399042	ensembl	human	known	70_37	missense	SNP	1.000	T
BRD4	23476	genome.wustl.edu	37	19	15366981	15366982	+	Frame_Shift_Ins	INS	-	-	T	rs149289085	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15366981_15366982insT	ENST00000263377.2	-	9	1865_1866	c.1644_1645insA	c.(1642-1647)aaagaafs	p.E549fs	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Frame_Shift_Ins_p.E549fs|BRD4_ENST00000360016.5_Frame_Shift_Ins_p.E549fs	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	549	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ttgtgcttttcttttttctttt	0.426			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0																																										SO:0001589	frameshift_variant	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1645dupA	19.37:g.15366987_15366987dupT	ENSP00000263377:p.Glu549fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Frame_Shift_Ins	INS	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E548fs	ENST00000263377.2	37	c.1645_1644	CCDS12328.1	19																																																																																			BRD4	-	NULL		0.426	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	-	NM_058243		15366982	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:0.979	T
BRD4	23476	genome.wustl.edu	37	19	15366988	15366988	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15366988C>G	ENST00000263377.2	-	9	1859	c.1638G>C	c.(1636-1638)aaG>aaC	p.K546N	BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.K546N|BRD4_ENST00000360016.5_Missense_Mutation_p.K546N	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	546	BID region.|Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tttcttttttcttttccttct	0.428			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													214.0	194.0	201.0					19																	15366988		2202	4300	6502	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.1638G>C	19.37:g.15366988C>G	ENSP00000263377:p.Lys546Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.K546N	ENST00000263377.2	37	c.1638	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764715	0.69878	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.12879	2.64;2.64;2.64	5.55	3.41	0.39046	.	0.284418	0.29861	N	0.011004	T	0.28599	0.0708	M	0.66560	2.04	0.53005	D	0.999968	D;D;D	0.76494	0.999;0.995;0.999	D;P;D	0.64144	0.922;0.882;0.922	T	0.03193	-1.1062	10	0.23891	T	0.37	-21.2776	11.3642	0.49662	0.0:0.8475:0.0:0.1525	.	546;546;546	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	N	546	ENSP00000263377:K546N;ENSP00000360901:K546N;ENSP00000353112:K546N	ENSP00000263377:K546N	K	-	3	2	BRD4	15227988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.974000	0.63771	1.358000	0.45922	0.561000	0.74099	AAG	BRD4	-	NULL		0.428	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15366988	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	G
BRD8	10902	genome.wustl.edu	37	5	137504212	137504212	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137504212G>C	ENST00000254900.5	-	9	1014				BRD8_ENST00000411594.2_Missense_Mutation_p.L270V|BRD8_ENST00000402931.1_Intron|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000230901.5_Missense_Mutation_p.L270V	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8						cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGACAGCAGAGGGGAGGGG	0.537																																																	0													60.0	68.0	66.0					5																	137504212		2203	4300	6503	SO:0001627	intron_variant	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.643-445C>G	5.37:g.137504212G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.L270V	ENST00000254900.5	37	c.808	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900972	0.52227	.	.	ENSG00000112983	ENST00000454473;ENST00000418329;ENST00000230901;ENST00000411594;ENST00000239899	T;T;T;T	0.60299	0.2;0.4;0.55;0.38	6.17	6.17	0.99709	.	.	.	.	.	T	0.67599	0.2910	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.67145	0.993;0.996;0.996;0.996	D;D;D;D	0.75484	0.967;0.986;0.986;0.986	T	0.62530	-0.6835	9	0.34782	T	0.22	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	270;270;130;270	A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2	.;.;.;.	V	265;265;270;270;130	ENSP00000398067:L265V;ENSP00000398873:L265V;ENSP00000230901:L270V;ENSP00000394330:L270V	ENSP00000230901:L270V	L	-	1	2	BRD8	137532111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.071000	0.71229	2.941000	0.99782	0.655000	0.94253	CTG	BRD8	-	NULL		0.537	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	G	NM_006696		137504212	-1	no_errors	ENST00000230901	ensembl	human	known	70_37	missense	SNP	1.000	C
BTBD11	121551	genome.wustl.edu	37	12	108051308	108051308	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:108051308C>G	ENST00000280758.5	+	17	3656	c.3128C>G	c.(3127-3129)tCa>tGa	p.S1043*	BTBD11_ENST00000420571.2_Nonsense_Mutation_p.S924*|BTBD11_ENST00000357167.4_Nonsense_Mutation_p.S580*|BTBD11_ENST00000494235.2_Nonsense_Mutation_p.S122*	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1043				S -> P (in Ref. 1; BAC03626). {ECO:0000305}.		integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGAGCTCTCAGCATATTGC	0.458																																																	0													86.0	81.0	82.0					12																	108051308		2203	4300	6503	SO:0001587	stop_gained	121551			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.3128C>G	12.37:g.108051308C>G	ENSP00000280758:p.Ser1043*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.S1043*	ENST00000280758.5	37	c.3128	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.184963	0.97357	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000357167;ENST00000494235	.	.	.	5.84	5.84	0.93424	.	0.113633	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	.	.	.	X	1043;924;580;122	.	ENSP00000280758:S1043X	S	+	2	0	BTBD11	106575438	0.996000	0.38824	0.964000	0.40570	0.910000	0.53928	7.463000	0.80869	2.760000	0.94817	0.655000	0.94253	TCA	BTBD11	-	NULL		0.458	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	C	NM_152322		108051308	+1	no_errors	ENST00000280758	ensembl	human	known	70_37	nonsense	SNP	0.997	G
BTBD7	55727	genome.wustl.edu	37	14	93717986	93717986	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:93717986C>G	ENST00000334746.5	-	8	2072	c.1765G>C	c.(1765-1767)Gag>Cag	p.E589Q	BTBD7_ENST00000554565.1_Missense_Mutation_p.E238Q|BTBD7_ENST00000393170.2_Missense_Mutation_p.E163Q	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	589					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACCATCATCTCATCTAGCACT	0.403																																																	0													171.0	139.0	150.0					14																	93717986		2203	4300	6503	SO:0001583	missense	55727			AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.1765G>C	14.37:g.93717986C>G	ENSP00000335615:p.Glu589Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.E589Q	ENST00000334746.5	37	c.1765	CCDS32146.1	14	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788212	0.90367	.	.	ENSG00000011114	ENST00000334746;ENST00000554565;ENST00000553975;ENST00000393170	T;T	0.52983	0.99;0.64	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67878	0.2940	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.91635	0.999;0.997;0.979	T	0.68546	-0.5380	10	0.72032	D	0.01	.	19.8205	0.96591	0.0:1.0:0.0:0.0	.	163;238;589	E7ERI4;Q9P203-5;Q9P203	.;.;BTBD7_HUMAN	Q	589;238;204;163	ENSP00000335615:E589Q;ENSP00000451010:E238Q	ENSP00000335615:E589Q	E	-	1	0	BTBD7	92787739	1.000000	0.71417	0.989000	0.46669	0.889000	0.51656	7.485000	0.81204	2.684000	0.91462	0.591000	0.81541	GAG	BTBD7	-	NULL		0.403	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD7	HGNC	protein_coding	OTTHUMT00000412701.1	C	NM_001002860		93717986	-1	no_errors	ENST00000334746	ensembl	human	known	70_37	missense	SNP	1.000	G
BTBD8	284697	genome.wustl.edu	37	1	92554440	92554440	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:92554440G>C	ENST00000342818.3	+	2	571	c.335G>C	c.(334-336)aGa>aCa	p.R112T	BTBD8_ENST00000370382.3_Missense_Mutation_p.R112T|BTBD8_ENST00000540648.1_Missense_Mutation_p.R112T	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	112	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTAGAATTTAGAACGTTTTTA	0.279																																																	0													88.0	83.0	84.0					1																	92554440		2202	4300	6502	SO:0001583	missense	284697			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.335G>C	1.37:g.92554440G>C	ENSP00000343686:p.Arg112Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6V9S5	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R112T	ENST00000342818.3	37	c.335	CCDS737.1	1	.	.	.	.	.	.	.	.	.	.	G	8.789	0.930068	0.18131	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.68331	-0.32;-0.32;-0.32	5.31	2.39	0.29439	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.295824	0.28821	N	0.014027	T	0.38214	0.1032	M	0.72624	2.21	0.28363	N	0.920354	B	0.15141	0.012	B	0.18871	0.023	T	0.30563	-0.9974	10	0.15499	T	0.54	-1.9807	7.4248	0.27092	0.4365:0.0:0.5635:0.0	.	112	Q5XKL5	BTBD8_HUMAN	T	112	ENSP00000359408:R112T;ENSP00000343686:R112T;ENSP00000443397:R112T	ENSP00000343686:R112T	R	+	2	0	BTBD8	92327028	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	2.114000	0.41911	0.315000	0.23110	0.591000	0.81541	AGA	BTBD8	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.279	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	HGNC	protein_coding	OTTHUMT00000028372.1	G	NM_183242		92554440	+1	no_errors	ENST00000342818	ensembl	human	known	70_37	missense	SNP	0.999	C
BYSL	705	genome.wustl.edu	37	6	41889361	41889361	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:41889361G>A	ENST00000230340.4	+	1	436	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MED20_ENST00000265350.4_5'Flank|MED20_ENST00000409060.1_5'Flank|MED20_ENST00000409312.1_5'Flank|MED20_ENST00000467535.1_5'Flank	NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	21					cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|female pregnancy (GO:0007565)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|trophectodermal cell differentiation (GO:0001829)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCCCTGGCCGATCAGATCCT	0.652											OREG0017436	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	18.0	17.0					6																	41889361		2195	4284	6479	SO:0001583	missense	705			L36720	CCDS34450.1	6p21.1	2008-08-29			ENSG00000112578	ENSG00000112578			1157	protein-coding gene	gene with protein product		603871				9925933, 17381424	Standard	NM_004053		Approved		uc003orl.3	Q13895	OTTHUMG00000014687	ENST00000230340.4:c.61G>A	6.37:g.41889361G>A	ENSP00000230340:p.Asp21Asn	Somatic	904	WXS	Illumina HiSeq	Phase_IV	Q6P5W4|Q86W44|Q96IP8	Missense_Mutation	SNP	pfam_Bystin	p.D21N	ENST00000230340.4	37	c.61	CCDS34450.1	6	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077153	0.76415	.	.	ENSG00000112578	ENST00000230340	T	0.21031	2.03	4.87	4.87	0.63330	.	0.322164	0.32548	N	0.005947	T	0.11110	0.0271	L	0.47716	1.5	0.50813	D	0.99989	B	0.28783	0.222	B	0.21151	0.033	T	0.03493	-1.1031	10	0.32370	T	0.25	-22.1692	17.8026	0.88592	0.0:0.0:1.0:0.0	.	21	Q13895	BYST_HUMAN	N	21	ENSP00000230340:D21N	ENSP00000230340:D21N	D	+	1	0	BYSL	41997339	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	8.272000	0.89885	2.517000	0.84864	0.655000	0.94253	GAT	BYSL	-	NULL		0.652	BYSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BYSL	HGNC	protein_coding	OTTHUMT00000040535.2	G			41889361	+1	no_errors	ENST00000230340	ensembl	human	known	70_37	missense	SNP	1.000	A
C10orf71	118461	genome.wustl.edu	37	10	50533782	50533782	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:50533782G>C	ENST00000374144.3	+	3	3480	c.3192G>C	c.(3190-3192)gaG>gaC	p.E1064D	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	1064										endometrium(1)	1						CCCCCGGGGAGAGCAGTGCCT	0.637																																																	0													11.0	15.0	14.0					10																	50533782		691	1590	2281	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.3192G>C	10.37:g.50533782G>C	ENSP00000363259:p.Glu1064Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL8	Missense_Mutation	SNP	NULL	p.E1064D	ENST00000374144.3	37	c.3192	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	G	5.228	0.227649	0.09916	.	.	ENSG00000177354	ENST00000374144	T	0.04809	3.55	5.38	-3.74	0.04385	.	0.185931	0.26193	N	0.025798	T	0.05273	0.0140	L	0.43152	1.355	0.09310	N	1	.	.	.	.	.	.	T	0.34229	-0.9837	8	0.30078	T	0.28	.	9.3328	0.38032	0.0637:0.5024:0.3312:0.1026	.	.	.	.	D	1064	ENSP00000363259:E1064D	ENSP00000363259:E1064D	E	+	3	2	C10orf71	50203788	0.222000	0.23652	0.007000	0.13788	0.187000	0.23431	0.305000	0.19254	-0.281000	0.09141	0.491000	0.48974	GAG	C10orf71	-	NULL		0.637	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2	G	NM_199459		50533782	+1	no_errors	ENST00000374144	ensembl	human	known	70_37	missense	SNP	0.017	C
C10orf107	219621	genome.wustl.edu	37	10	63450372	63450372	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:63450372G>C	ENST00000330194.2	+	4	586	c.281G>C	c.(280-282)gGa>gCa	p.G94A		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	94										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					ATTGTGATAGGAACTGAGGTA	0.343																																																	0													123.0	124.0	124.0					10																	63450372		2203	4299	6502	SO:0001583	missense	219621			BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.281G>C	10.37:g.63450372G>C	ENSP00000328698:p.Gly94Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T1B8	Missense_Mutation	SNP	NULL	p.G94A	ENST00000330194.2	37	c.281	CCDS7262.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.944531|3.944531	0.73672|0.73672	.|.	.|.	ENSG00000183346|ENSG00000183346	ENST00000389639|ENST00000330194	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.245514	.|0.36374	.|N	.|0.002630	T|T	0.79896|0.79896	0.4525|0.4525	M|M	0.78637|0.78637	2.42|2.42	0.35747|0.35747	D|D	0.819133|0.819133	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.79997|0.79997	-0.1567|-0.1567	5|9	.|0.27082	.|T	.|0.32	-20.6455|-20.6455	19.7142|19.7142	0.96108|0.96108	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|94	.|Q8IVU9	.|CJ107_HUMAN	Q|A	83|94	.|.	.|ENSP00000328698:G94A	E|G	+|+	1|2	0|0	C10orf107|C10orf107	63120378|63120378	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	5.445000|5.445000	0.66594|0.66594	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAA|GGA	C10orf107	-	NULL		0.343	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf107	HGNC	protein_coding	OTTHUMT00000048228.2	G	NM_173554		63450372	+1	no_errors	ENST00000330194	ensembl	human	known	70_37	missense	SNP	1.000	C
COLCA2	120376	genome.wustl.edu	37	11	111177315	111177315	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111177315C>T	ENST00000398035.2	+	4	821	c.63C>T	c.(61-63)ttC>ttT	p.F21F	COLCA1_ENST00000532918.1_5'Flank|COLCA2_ENST00000526216.1_Silent_p.F21F	NM_001136105.2	NP_001129577.1	A8K830	COLC2_HUMAN	colorectal cancer associated 2	21						cytoplasm (GO:0005737)											CAGACAGCTTCCAGGCCACCC	0.463																																																	0													111.0	100.0	103.0					11																	111177315		692	1591	2283	SO:0001819	synonymous_variant	120376			BC042557	CCDS44728.1, CCDS73378.1	11q23.1	2013-10-11	2013-08-22	2013-08-22	ENSG00000214290	ENSG00000214290			26978	protein-coding gene	gene with protein product	"""cancer susceptibility candidate 13"""	615694	"""chromosome 11 open reading frame 93"""	C11orf93		21071539	Standard	NM_001271457		Approved	CASC13	uc031qea.1	A8K830	OTTHUMG00000166657	ENST00000398035.2:c.63C>T	11.37:g.111177315C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PMJ8|Q2TBJ3|V5LD62|V5LDI3|V5LDV1|V5LE09|V5LEU3	Silent	SNP	NULL	p.F21	ENST00000398035.2	37	c.63	CCDS44728.1	11																																																																																			C11orf93	-	NULL		0.463	COLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf93	HGNC	protein_coding	OTTHUMT00000390991.1	C	NM_001136105		111177315	+1	no_errors	ENST00000398035	ensembl	human	known	70_37	silent	SNP	0.619	T
C11orf88	399949	genome.wustl.edu	37	11	111385666	111385666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111385666C>T	ENST00000375618.4	+	1	157	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	BTG4_ENST00000525791.1_5'Flank|MIR34C_ENST00000384831.1_RNA|C11orf88_ENST00000529167.1_Nonsense_Mutation_p.Q53*|BTG4_ENST00000356018.2_5'Flank|MIR34B_ENST00000385076.1_RNA|C11orf88_ENST00000332814.6_Nonsense_Mutation_p.Q53*|RP11-794P6.6_ENST00000530283.1_RNA	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	53										endometrium(1)|large_intestine(3)|lung(2)	6						TAGCGAATCTCAGCTGGTGCT	0.597											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55.0	62.0	60.0					11																	111385666		2116	4249	6365	SO:0001587	stop_gained	399949			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.157C>T	11.37:g.111385666C>T	ENSP00000364768:p.Gln53*	Somatic	1434	WXS	Illumina HiSeq	Phase_IV	E9PAN0|Q6ZRL3	Nonsense_Mutation	SNP	NULL	p.Q53*	ENST00000375618.4	37	c.157	CCDS41713.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435974	0.83885	.	.	ENSG00000183644	ENST00000375618;ENST00000529167;ENST00000332814	.	.	.	5.13	5.13	0.70059	.	0.426837	0.22148	N	0.063945	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-13.8771	13.9476	0.64094	0.0:1.0:0.0:0.0	.	.	.	.	X	53	.	ENSP00000333845:Q53X	Q	+	1	0	C11orf88	110890876	0.859000	0.29813	0.982000	0.44146	0.712000	0.41017	4.499000	0.60380	2.670000	0.90874	0.467000	0.42956	CAG	C11orf88	-	NULL		0.597	C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf88	HGNC	protein_coding	OTTHUMT00000391181.1	C	NM_001100388		111385666	+1	no_errors	ENST00000529167	ensembl	human	known	70_37	nonsense	SNP	0.983	T
LMO7DN	729420	genome.wustl.edu	37	13	76447803	76447803	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:76447803C>T	ENST00000318245.4	+	2	204	c.128C>T	c.(127-129)tCg>tTg	p.S43L		NM_001257995.1	NP_001244924.1	F2Z398	LMO7D_HUMAN		43																	ACCGCAGTTTCGGGAATGATG	0.418																																																	0																																										SO:0001583	missense	729420																														ENST00000318245.4:c.128C>T	13.37:g.76447803C>T	ENSP00000317235:p.Ser43Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NAG9	Missense_Mutation	SNP	NULL	p.S43L	ENST00000318245.4	37	c.128	CCDS58298.1	13	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.447627	0.01089	.	.	ENSG00000178734	ENST00000318245	T	0.38401	1.14	3.15	-3.3	0.05003	.	.	.	.	.	T	0.21550	0.0519	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25117	-1.0141	6	0.40728	T	0.16	.	0.0714	0.00023	0.3229:0.2154:0.165:0.2966	.	.	.	.	L	43	ENSP00000317235:S43L	ENSP00000317235:S43L	S	+	2	0	AL359392.1	75345804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.235000	0.01202	-1.073000	0.03137	-1.475000	0.01000	TCG	C13orf45	-	NULL		0.418	C13orf45-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C13orf45	HGNC	protein_coding		C			76447803	+1	no_errors	ENST00000318245	ensembl	human	known	70_37	missense	SNP	0.000	T
C15orf52	388115	genome.wustl.edu	37	15	40632180	40632180	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:40632180C>G	ENST00000559313.1	-	2	196	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	C15orf52_ENST00000397536.2_5'Flank|C15orf52_ENST00000557973.1_5'UTR	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	61							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GCGTCCTTCTCCTGCCTGCTC	0.637																																																	0													54.0	62.0	59.0					15																	40632180		2063	4207	6270	SO:0001583	missense	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.181G>C	15.37:g.40632180C>G	ENSP00000453969:p.Glu61Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.E61Q	ENST00000559313.1	37	c.181	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255610	0.59321	.	.	ENSG00000188549	ENST00000382688	.	.	.	4.61	3.65	0.41850	.	0.000000	0.44483	D	0.000448	T	0.54791	0.1880	M	0.67953	2.075	0.24505	N	0.994233	D	0.76494	0.999	D	0.64877	0.93	T	0.40831	-0.9542	9	0.31617	T	0.26	-15.3692	9.755	0.40498	0.0:0.7708:0.2292:0.0	.	61	Q6ZUT6	CO052_HUMAN	Q	61	.	ENSP00000372135:E61Q	E	-	1	0	C15orf52	38419472	0.933000	0.31639	1.000000	0.80357	0.582000	0.36321	1.492000	0.35594	2.401000	0.81631	0.462000	0.41574	GAG	C15orf52	-	NULL		0.637	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	C	NM_207380		40632180	-1	no_errors	ENST00000559313	ensembl	human	known	70_37	missense	SNP	0.999	G
TMEM259	91304	genome.wustl.edu	37	19	1011437	1011437	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:1011437G>C	ENST00000356663.3	-	9	1267	c.1146C>G	c.(1144-1146)ctC>ctG	p.L382L	TMEM259_ENST00000333175.5_Silent_p.L382L	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	382						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GCCACACGATGAGGATGATGT	0.657																																																	0													66.0	48.0	54.0					19																	1011437		2190	4289	6479	SO:0001819	synonymous_variant	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.1146C>G	19.37:g.1011437G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O60392|Q8NF79|Q96H30	Silent	SNP	pfam_Membralin	p.L382	ENST00000356663.3	37	c.1146	CCDS32862.1	19																																																																																			C19orf6	-	pfam_Membralin		0.657	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf6	HGNC	protein_coding	OTTHUMT00000458236.1	G	NM_033420		1011437	-1	no_errors	ENST00000356663	ensembl	human	known	70_37	silent	SNP	1.000	C
C1QTNF7	114905	genome.wustl.edu	37	4	15443963	15443963	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:15443963G>C	ENST00000444304.2	+	3	736	c.410G>C	c.(409-411)gGa>gCa	p.G137A	C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G137A|C1QTNF7_ENST00000295297.4_Missense_Mutation_p.G144A			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	137	Collagen-like.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GGGCTGCCTGGAGTTTGCAGA	0.512																																																	0													176.0	183.0	181.0					4																	15443963		2203	4300	6503	SO:0001583	missense	114905			AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.410G>C	4.37:g.15443963G>C	ENSP00000388914:p.Gly137Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBT3|J3KPW3	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G137A	ENST00000444304.2	37	c.410	CCDS3414.1	4	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690928	0.88735	.	.	ENSG00000163145	ENST00000397700;ENST00000295297;ENST00000429690;ENST00000444304	D;D;D;D	0.99418	-5.87;-5.87;-5.87;-5.87	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97884	1.0293	10	0.59425	D	0.04	.	19.4713	0.94963	0.0:0.0:1.0:0.0	.	137	Q9BXJ2	C1QT7_HUMAN	A	144;144;137;137	ENSP00000380812:G144A;ENSP00000295297:G144A;ENSP00000410722:G137A;ENSP00000388914:G137A	ENSP00000295297:G144A	G	+	2	0	C1QTNF7	15053061	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.830000	0.99415	2.619000	0.88677	0.655000	0.94253	GGA	C1QTNF7	-	pfam_Collagen		0.512	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C1QTNF7	HGNC	protein_coding	OTTHUMT00000250891.2	G			15443963	+1	no_errors	ENST00000429690	ensembl	human	known	70_37	missense	SNP	1.000	C
C1orf112	55732	genome.wustl.edu	37	1	169806152	169806152	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:169806152G>C	ENST00000286031.6	+	17	2324	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.E542Q	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	542										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTACCTCCTGAGCTTAGGGA	0.448																																																	0													81.0	76.0	77.0					1																	169806152		2203	4300	6503	SO:0001583	missense	55732			AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1624G>C	1.37:g.169806152G>C	ENSP00000286031:p.Glu542Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	NULL	p.E542Q	ENST00000286031.6	37	c.1624	CCDS1285.1	1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.773470	0.49786	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.42900	0.96;0.96	6.17	5.26	0.73747	.	0.434895	0.28268	N	0.015974	T	0.29945	0.0749	L	0.60455	1.87	0.26621	N	0.972641	P;P	0.47604	0.715;0.898	P;P	0.48921	0.471;0.595	T	0.20605	-1.0270	10	0.46703	T	0.11	-4.7854	8.3965	0.32559	0.0771:0.0:0.7698:0.153	.	484;542	B4DGF2;Q9NSG2	.;CA112_HUMAN	Q	542	ENSP00000352276:E542Q;ENSP00000286031:E542Q	ENSP00000286031:E542Q	E	+	1	0	C1orf112	168072776	0.997000	0.39634	0.067000	0.19924	0.009000	0.06853	1.896000	0.39789	1.630000	0.50440	0.655000	0.94253	GAG	C1orf112	-	NULL		0.448	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf112	HGNC	protein_coding	OTTHUMT00000087126.3	G	NM_018186		169806152	+1	no_errors	ENST00000286031	ensembl	human	known	70_37	missense	SNP	0.096	C
CFAP74	85452	genome.wustl.edu	37	1	1886754	1886754	+	IGR	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:1886754C>A								TMEM52 (36042 upstream) : C1orf222 (32808 downstream)																							GCACCTCTCCCCGCTGGTGCG	0.701																																																	0																																										SO:0001628	intergenic_variant	85452																															1.37:g.1886754C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		1																																																																																			C1orf222	-	-	0	0.701					C1orf222	HGNC			C			1886754	-1	no_errors	ENST00000468610	ensembl	human	known	70_37	rna	SNP	0.000	A
C1orf116	79098	genome.wustl.edu	37	1	207196378	207196378	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:207196378G>A	ENST00000359470.5	-	4	980	c.731C>T	c.(730-732)tCa>tTa	p.S244L	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	244						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CATGGCTTCTGAAGGAGTCTG	0.582																																																	0													218.0	211.0	213.0					1																	207196378		2203	4300	6503	SO:0001583	missense	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.731C>T	1.37:g.207196378G>A	ENSP00000352447:p.Ser244Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JV41|Q658X3	Missense_Mutation	SNP	NULL	p.S244L	ENST00000359470.5	37	c.731	CCDS1475.1	1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313866	0.40996	.	.	ENSG00000182795	ENST00000359470	T	0.09350	2.99	5.03	2.71	0.32032	.	1.642850	0.03062	N	0.155964	T	0.12561	0.0305	L	0.50333	1.59	0.09310	N	0.999997	B	0.14012	0.009	B	0.12156	0.007	T	0.30765	-0.9967	10	0.27785	T	0.31	0.0407	6.1924	0.20532	0.1107:0.0:0.7009:0.1884	.	244	Q9BW04	SARG_HUMAN	L	244	ENSP00000352447:S244L	ENSP00000352447:S244L	S	-	2	0	C1orf116	205263001	0.001000	0.12720	0.010000	0.14722	0.129000	0.20672	0.809000	0.27168	1.067000	0.40740	0.655000	0.94253	TCA	C1orf116	-	NULL		0.582	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	G	NM_024115		207196378	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	missense	SNP	0.000	A
C20orf194	25943	genome.wustl.edu	37	20	3268354	3268354	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3268354C>G	ENST00000252032.9	-	27	2477	c.2410G>C	c.(2410-2412)Gag>Cag	p.E804Q	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	804										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGCTGGGCCTCTAGGGCACTG	0.517																																																	0													141.0	137.0	138.0					20																	3268354		2004	4189	6193	SO:0001583	missense	25943			AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2410G>C	20.37:g.3268354C>G	ENSP00000252032:p.Glu804Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	NULL	p.E804Q	ENST00000252032.9	37	c.2410	CCDS42851.1	20	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449972	0.63290	.	.	ENSG00000088854	ENST00000252032	T	0.19250	2.16	4.79	4.79	0.61399	.	0.194781	0.45867	D	0.000324	T	0.41351	0.1155	L	0.51422	1.61	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.78314	0.991;0.991	T	0.16335	-1.0406	10	0.52906	T	0.07	.	16.7639	0.85519	0.0:1.0:0.0:0.0	.	543;804	Q0IIP3;Q5TEA3	.;CT194_HUMAN	Q	804	ENSP00000252032:E804Q	ENSP00000252032:E804Q	E	-	1	0	C20orf194	3216354	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.127000	0.50484	2.485000	0.83878	0.650000	0.86243	GAG	C20orf194	-	NULL		0.517	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf194	HGNC	protein_coding	OTTHUMT00000077734.1	C	NM_001009984		3268354	-1	no_errors	ENST00000252032	ensembl	human	known	70_37	missense	SNP	1.000	G
NOL4L	140688	genome.wustl.edu	37	20	31136382	31136382	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:31136382G>C	ENST00000201961.2	-	2	259							Q96MY1	NOL4L_HUMAN								cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						agcatacactgaatgctcaat	0.458																																																	0																																										SO:0001627	intron_variant	140688																														ENST00000201961.2:c.40-20666C>G	20.37:g.31136382G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	RNA	SNP	-	NULL	ENST00000201961.2	37	NULL		20																																																																																			C20orf112	-	-		0.458	C20orf112-002	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078629.3	G			31136382	-1	no_errors	ENST00000485364	ensembl	human	known	70_37	rna	SNP	0.001	C
C21orf59	56683	genome.wustl.edu	37	21	33984523	33984523	+	Missense_Mutation	SNP	C	C	G	rs201328420		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:33984523C>G	ENST00000290155.3	-	1	653	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	C21orf59_ENST00000540881.1_Missense_Mutation_p.E11Q|AP000275.65_ENST00000553001.1_Missense_Mutation_p.E11Q|C21orf59_ENST00000382549.4_Missense_Mutation_p.E11Q	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	11						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						AACTGGCTCTCGTCGCCCCGC	0.697																																																	0													18.0	18.0	18.0					21																	33984523		2202	4299	6501	SO:0001583	missense	56683			AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.31G>C	21.37:g.33984523C>G	ENSP00000290155:p.Glu11Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FH0	Missense_Mutation	SNP	pfam_DUF2870	p.E11Q	ENST00000290155.3	37	c.31	CCDS13617.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.262604	0.95399	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000540881;ENST00000458138	.	.	.	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	L	0.52011	1.625	0.80722	D	1	D;P;P;P;P	0.56968	0.978;0.714;0.799;0.668;0.668	P;B;B;B;B	0.53401	0.725;0.287;0.287;0.1;0.1	T	0.63620	-0.6596	8	.	.	.	.	17.9966	0.89185	0.0:1.0:0.0:0.0	.	11;11;11;11;11	F5GXV2;C9J818;P57076;D3DSE6;Q96NJ2	.;.;CU059_HUMAN;.;.	Q	11	.	.	E	-	1	0	C21orf59	32906394	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.127000	0.77210	2.465000	0.83290	0.455000	0.32223	GAG	C21orf59	-	NULL		0.697	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf59	HGNC	protein_coding	OTTHUMT00000139431.1	C	NM_021254		33984523	-1	no_errors	ENST00000290155	ensembl	human	known	70_37	missense	SNP	1.000	G
C2orf16	84226	genome.wustl.edu	37	2	27801949	27801949	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27801949C>T	ENST00000408964.2	+	1	2561	c.2510C>T	c.(2509-2511)tCa>tTa	p.S837L	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	837						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTAGAGAACTCACTTCAGAGA	0.453																																																	0													84.0	85.0	85.0					2																	27801949		1950	4159	6109	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.2510C>T	2.37:g.27801949C>T	ENSP00000386190:p.Ser837Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.S837L	ENST00000408964.2	37	c.2510	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270808	0.23221	.	.	ENSG00000221843	ENST00000408964	T	0.09723	2.95	5.24	-0.108	0.13588	.	.	.	.	.	T	0.06645	0.0170	N	0.24115	0.695	0.09310	N	1	B	0.20052	0.041	B	0.19946	0.027	T	0.37549	-0.9701	9	0.87932	D	0	.	3.3984	0.07315	0.1789:0.4115:0.0:0.4096	.	837	Q68DN1	CB016_HUMAN	L	837	ENSP00000386190:S837L	ENSP00000386190:S837L	S	+	2	0	C2orf16	27655453	0.011000	0.17503	0.052000	0.19188	0.059000	0.15707	0.292000	0.19011	0.067000	0.16545	0.591000	0.81541	TCA	C2orf16	-	NULL		0.453	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	C	NM_032266		27801949	+1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.007	T
C2orf16	84226	genome.wustl.edu	37	2	27804010	27804010	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27804010G>C	ENST00000408964.2	+	1	4622	c.4571G>C	c.(4570-4572)aGa>aCa	p.R1524T	AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1524						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTGTGAAGAGAACCTGGCAC	0.512																																																	0													92.0	94.0	93.0					2																	27804010		1909	4113	6022	SO:0001583	missense	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.4571G>C	2.37:g.27804010G>C	ENSP00000386190:p.Arg1524Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.R1524T	ENST00000408964.2	37	c.4571	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001092	0.35320	.	.	ENSG00000221843	ENST00000408964	T	0.10763	2.84	3.79	-0.216	0.13153	.	.	.	.	.	T	0.05823	0.0152	N	0.24115	0.695	0.09310	N	0.999998	B	0.33318	0.408	B	0.26094	0.066	T	0.34004	-0.9846	9	0.49607	T	0.09	.	4.8877	0.13712	0.2945:0.159:0.5465:0.0	.	1524	Q68DN1	CB016_HUMAN	T	1524	ENSP00000386190:R1524T	ENSP00000386190:R1524T	R	+	2	0	C2orf16	27657514	0.898000	0.30612	0.003000	0.11579	0.188000	0.23474	0.795000	0.26972	-0.053000	0.13289	0.462000	0.41574	AGA	C2orf16	-	NULL		0.512	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	G	NM_032266		27804010	+1	no_errors	ENST00000408964	ensembl	human	known	70_37	missense	SNP	0.361	C
C2orf81	388963	genome.wustl.edu	37	2	74642549	74642549	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74642549G>A	ENST00000517883.1	-	1	1161	c.470C>T	c.(469-471)tCg>tTg	p.S157L	C2orf81_ENST00000290390.5_Missense_Mutation_p.S225L			A6NN90	CB081_HUMAN	chromosome 2 open reading frame 81	218										endometrium(3)|kidney(1)	4						GGACCCGGCCGAGGAGAGGCC	0.662																																																	0													16.0	28.0	24.0					2																	74642549		692	1591	2283	SO:0001583	missense	388963			AC005041, CH471053		2p13.1	2012-08-07			ENSG00000159239	ENSG00000159239			34350	protein-coding gene	gene with protein product						15815621	Standard	NM_001145054		Approved	LOC388963, hCG40743	uc010yrq.1	A6NN90	OTTHUMG00000164184	ENST00000517883.1:c.470C>T	2.37:g.74642549G>A	ENSP00000431103:p.Ser157Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S225L	ENST00000517883.1	37	c.674		2	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450991	0.26074	.	.	ENSG00000159239	ENST00000517883;ENST00000290390;ENST00000518863	.	.	.	4.81	1.8	0.24995	.	1.677560	0.03554	N	0.225977	T	0.21307	0.0513	N	0.10874	0.06	0.09310	N	1	B	0.16802	0.019	B	0.13407	0.009	T	0.17899	-1.0354	9	0.23302	T	0.38	-1.5126	6.8144	0.23822	0.3945:0.0:0.6055:0.0	.	225	G3XAA6	.	L	157;225;157	.	ENSP00000290390:S225L	S	-	2	0	C2orf81	74496057	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.423000	0.21313	0.632000	0.30432	0.561000	0.74099	TCG	C2orf81	-	NULL		0.662	C2orf81-002	PUTATIVE	basic|appris_candidate	protein_coding	C2orf81	HGNC	protein_coding	OTTHUMT00000377683.1	G	NM_001145054		74642549	-1	no_errors	ENST00000290390	ensembl	human	known	70_37	missense	SNP	0.000	A
C3orf20	84077	genome.wustl.edu	37	3	14813664	14813664	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:14813664C>T	ENST00000253697.3	+	16	3038	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	C3orf20_ENST00000435614.1_Silent_p.A740A|C3orf20_ENST00000412910.1_Silent_p.A740A	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	862						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCTCATTGGCCCTGGAAGACT	0.547																																																	0													122.0	112.0	115.0					3																	14813664		2203	4300	6503	SO:0001819	synonymous_variant	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.2586C>T	3.37:g.14813664C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.A862	ENST00000253697.3	37	c.2586	CCDS33706.1	3																																																																																			C3orf20	-	NULL		0.547	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	C	NM_032137		14813664	+1	no_errors	ENST00000253697	ensembl	human	known	70_37	silent	SNP	0.001	T
C3orf67	200844	genome.wustl.edu	37	3	58852388	58852388	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:58852388C>G	ENST00000482387.1	-	7	883	c.787G>C	c.(787-789)Gaa>Caa	p.E263Q	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.E263Q|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.E170Q			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	263										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GCTTTATCTTCAATCCTATTA	0.373																																																	0													139.0	139.0	139.0					3																	58852388		2203	4300	6503	SO:0001583	missense	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.787G>C	3.37:g.58852388C>G	ENSP00000417122:p.Glu263Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.E263Q	ENST00000482387.1	37	c.787		3	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441328	0.25900	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.20332	2.15;2.14;2.08	5.88	5.01	0.66863	.	0.549745	0.19851	N	0.104628	T	0.25975	0.0633	L	0.58101	1.795	0.58432	D	0.999995	P;P;P	0.49783	0.928;0.587;0.835	P;B;B	0.44897	0.463;0.221;0.369	T	0.02713	-1.1120	10	0.62326	D	0.03	-2.2945	11.078	0.48043	0.0:0.9149:0.0:0.0851	.	170;263;263	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	Q	263;263;170	ENSP00000295966:E263Q;ENSP00000417122:E263Q;ENSP00000417271:E170Q	ENSP00000295966:E263Q	E	-	1	0	C3orf67	58827428	0.667000	0.27484	0.057000	0.19452	0.040000	0.13550	0.929000	0.28844	1.494000	0.48533	0.655000	0.94253	GAA	C3orf67	-	NULL		0.373	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	HGNC	protein_coding	OTTHUMT00000353803.1	C	NM_198463		58852388	-1	no_errors	ENST00000482387	ensembl	human	known	70_37	missense	SNP	0.591	G
SMIM20	389203	genome.wustl.edu	37	4	25930793	25930793	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:25930793G>C	ENST00000514384.1	+	2	132	c.127G>C	c.(127-129)Gat>Cat	p.D43H	SMIM20_ENST00000506197.2_Missense_Mutation_p.D62H|SMIM20_ENST00000515764.2_3'UTR			Q8N5G0	SMI20_HUMAN	small integral membrane protein 20	163						integral component of membrane (GO:0016021)											AGTGTGGTCTGATCCATTTGG	0.418																																																	0													309.0	260.0	275.0					4																	25930793		692	1591	2283	SO:0001583	missense	389203				CCDS47038.1	4p15.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000250317	ENSG00000250317			37260	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 52"""	C4orf52			Standard	NM_001145432		Approved		uc003grw.4	Q8N5G0	OTTHUMG00000160330	ENST00000514384.1:c.127G>C	4.37:g.25930793G>C	ENSP00000429820:p.Asp43His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JYT8|Q9BRT5	Missense_Mutation	SNP	NULL	p.D62H	ENST00000514384.1	37	c.184		4	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129950	0.77549	.	.	ENSG00000250317	ENST00000412980;ENST00000506197;ENST00000514384	T;T	0.74002	-0.62;-0.8	5.88	5.88	0.94601	.	0.126101	0.56097	D	0.000038	D	0.86719	0.6000	.	.	.	0.50632	D	0.999886	D	0.89917	1.0	D	0.91635	0.999	D	0.87787	0.2616	9	0.87932	D	0	-13.3482	15.7093	0.77612	0.0:0.0:1.0:0.0	.	163	Q8N5G0	CD052_HUMAN	H	163;62;43	ENSP00000427407:D62H;ENSP00000429820:D43H	ENSP00000441532:D163H	D	+	1	0	C4orf52	25539891	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	4.980000	0.63812	2.776000	0.95493	0.655000	0.94253	GAT	C4orf52	-	NULL		0.418	SMIM20-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	C4orf52	HGNC	protein_coding	OTTHUMT00000360257.2	G	NM_001145432		25930793	+1	no_errors	ENST00000506197	ensembl	human	known	70_37	missense	SNP	0.997	C
C5orf22	55322	genome.wustl.edu	37	5	31552926	31552926	+	Missense_Mutation	SNP	C	C	G	rs147146477		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:31552926C>G	ENST00000325366.9	+	9	1373	c.1246C>G	c.(1246-1248)Caa>Gaa	p.Q416E	C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000355907.3_Missense_Mutation_p.Q137E	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	416										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						TGACACTATTCAAGAAAAGGT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20109	0.0		0.0	False		,,,				2504	0.0																0								C	GLU/GLN	1,4405	2.1+/-5.4	0,1,2202	131.0	121.0	125.0		1246	5.7	1.0	5	dbSNP_134	125	0,8600		0,0,4300	no	missense	C5orf22	NM_018356.2	29	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	416/443	31552926	1,13005	2203	4300	6503	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1246C>G	5.37:g.31552926C>G	ENSP00000326879:p.Gln416Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	superfamily_ICAT	p.Q416E	ENST00000325366.9	37	c.1246	CCDS3895.1	5	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864375	0.71949	2.27E-4	0.0	ENSG00000082213	ENST00000325366;ENST00000355907;ENST00000543911	T;T	0.54479	1.12;0.57	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.69540	0.3122	L	0.49126	1.545	0.58432	D	0.999999	D;D	0.69078	0.965;0.997	P;D	0.78314	0.885;0.991	T	0.70457	-0.4866	10	0.87932	D	0	-15.6359	19.5083	0.95130	0.0:1.0:0.0:0.0	.	137;416	Q49AR2-3;Q49AR2	.;CE022_HUMAN	E	416;137;151	ENSP00000326879:Q416E;ENSP00000348171:Q137E	ENSP00000326879:Q416E	Q	+	1	0	C5orf22	31588683	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.923000	0.70045	2.721000	0.93114	0.655000	0.94253	CAA	C5orf22	-	NULL		0.388	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf22	HGNC	protein_coding	OTTHUMT00000253726.2	C	NM_018356		31552926	+1	no_errors	ENST00000325366	ensembl	human	known	70_37	missense	SNP	1.000	G
C5orf42	65250	genome.wustl.edu	37	5	37138831	37138831	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:37138831C>T	ENST00000508244.1	-	44	8714	c.8621G>A	c.(8620-8622)gGc>gAc	p.G2874D	C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000425232.2_Missense_Mutation_p.G2874D|C5orf42_ENST00000274258.7_Missense_Mutation_p.G1772D			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2874						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGAGGTGCCCATAGCTTG	0.323																																																	0													132.0	137.0	135.0					5																	37138831		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8621G>A	5.37:g.37138831C>T	ENSP00000421690:p.Gly2874Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.G2874D	ENST00000508244.1	37	c.8621	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	2.038	-0.420764	0.04734	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.53	-2.77	0.05877	.	1.395990	0.04038	N	0.302675	T	0.17280	0.0415	N	0.03608	-0.345	0.09310	N	1	B;B	0.19200	0.006;0.034	B;B	0.18561	0.014;0.022	T	0.21008	-1.0258	10	0.07813	T	0.8	.	6.9067	0.24313	0.0:0.2307:0.1597:0.6096	.	2874;1772	E9PH94;Q9H799	.;CE042_HUMAN	D	2874;2874;1772;1940;1808	ENSP00000421690:G2874D;ENSP00000389014:G2874D;ENSP00000274258:G1772D;ENSP00000424223:G1940D	ENSP00000274258:G1772D	G	-	2	0	C5orf42	37174588	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.607000	0.05648	-0.371000	0.08004	-0.150000	0.13652	GGC	C5orf42	-	NULL		0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37138831	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	0.000	T
C9orf84	158401	genome.wustl.edu	37	9	114521010	114521010	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:114521010G>A	ENST00000318737.4	-	4	497	c.369C>T	c.(367-369)ttC>ttT	p.F123F	C9orf84_ENST00000374287.3_Silent_p.F123F|C9orf84_ENST00000374283.5_Silent_p.F187F|C9orf84_ENST00000394777.4_Silent_p.F84F|C9orf84_ENST00000394779.3_Silent_p.F84F	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	123										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTGTCCTTTGAAATCTAAAA	0.323																																																	0													51.0	52.0	52.0					9																	114521010		2203	4298	6501	SO:0001819	synonymous_variant	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.369C>T	9.37:g.114521010G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.F123	ENST00000318737.4	37	c.369	CCDS6781.3	9																																																																																			C9orf84	-	NULL		0.323	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	G	NM_173521		114521010	-1	no_errors	ENST00000318737	ensembl	human	known	70_37	silent	SNP	1.000	A
C9orf91	203197	genome.wustl.edu	37	9	117396098	117396098	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:117396098G>C	ENST00000288502.4	+	6	962	c.525G>C	c.(523-525)ctG>ctC	p.L175L	C9orf91_ENST00000374049.4_Silent_p.L176L			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	175						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAGCCCTCCTGAGACACCGGG	0.582																																																	0													95.0	83.0	87.0					9																	117396098		2203	4300	6503	SO:0001819	synonymous_variant	203197			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.525G>C	9.37:g.117396098G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	NULL	p.L176	ENST00000288502.4	37	c.528	CCDS6808.1	9																																																																																			C9orf91	-	NULL		0.582	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	HGNC	protein_coding	OTTHUMT00000053780.1	G	NM_153045		117396098	+1	no_errors	ENST00000374049	ensembl	human	known	70_37	silent	SNP	0.910	C
CA8	767	genome.wustl.edu	37	8	61192272	61192272	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:61192272G>A	ENST00000317995.4	-	2	532	c.268C>T	c.(268-270)Cag>Tag	p.Q90*		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	90					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	AGGATAACCTGAATGGTATGT	0.418																																																	0													94.0	93.0	93.0					8																	61192272		2203	4300	6503	SO:0001587	stop_gained	767			L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.268C>T	8.37:g.61192272G>A	ENSP00000314407:p.Gln90*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0A5|B3KQZ7|Q32MY2	Nonsense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q90*	ENST00000317995.4	37	c.268	CCDS6174.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.824633	0.98510	.	.	ENSG00000178538	ENST00000317995	.	.	.	5.22	5.22	0.72569	.	0.054810	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	18.8082	0.92047	0.0:0.0:1.0:0.0	.	.	.	.	X	90	.	ENSP00000314407:Q90X	Q	-	1	0	CA8	61354826	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.512000	0.81728	2.442000	0.82660	0.557000	0.71058	CAG	CA8	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a		0.418	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA8	HGNC	protein_coding	OTTHUMT00000383445.1	G			61192272	-1	no_errors	ENST00000317995	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CABIN1	23523	genome.wustl.edu	37	22	24468334	24468334	+	Missense_Mutation	SNP	G	G	C	rs62231973		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:24468334G>C	ENST00000398319.2	+	18	2891	c.2506G>C	c.(2506-2508)Gag>Cag	p.E836Q	CABIN1_ENST00000405822.2_Missense_Mutation_p.E786Q|CABIN1_ENST00000263119.5_Missense_Mutation_p.E836Q	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	836					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGCAGGAGGAGGCCAAGGA	0.577																																																	0													116.0	82.0	94.0					22																	24468334		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2506G>C	22.37:g.24468334G>C	ENSP00000381364:p.Glu836Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E836Q	ENST00000398319.2	37	c.2506	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539908	0.85917	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.34859	1.34;1.34;1.34	4.57	4.57	0.56435	.	0.054168	0.64402	D	0.000001	T	0.55353	0.1915	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.986	T	0.55885	-0.8070	10	0.48119	T	0.1	.	16.8003	0.85612	0.0:0.0:1.0:0.0	.	786;836	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	Q	836;786;836	ENSP00000263119:E836Q;ENSP00000384694:E786Q;ENSP00000381364:E836Q	ENSP00000263119:E836Q	E	+	1	0	CABIN1	22798334	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.219000	0.95173	2.300000	0.77407	0.650000	0.86243	GAG	CABIN1	-	NULL		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	G	NM_012295		24468334	+1	no_errors	ENST00000263119	ensembl	human	known	70_37	missense	SNP	1.000	C
CABIN1	23523	genome.wustl.edu	37	22	24509660	24509660	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:24509660C>T	ENST00000398319.2	+	27	4630	c.4245C>T	c.(4243-4245)ctC>ctT	p.L1415L	CABIN1_ENST00000405822.2_Silent_p.L1336L|CABIN1_ENST00000263119.5_Silent_p.L1415L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1415					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCCATTCTCAGTTCCCAAG	0.507																																																	0													90.0	91.0	91.0					22																	24509660		2203	4300	6503	SO:0001819	synonymous_variant	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.4245C>T	22.37:g.24509660C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1415	ENST00000398319.2	37	c.4245	CCDS13823.1	22																																																																																			CABIN1	-	NULL		0.507	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	C	NM_012295		24509660	+1	no_errors	ENST00000263119	ensembl	human	known	70_37	silent	SNP	0.740	T
CABP2	51475	genome.wustl.edu	37	11	67289435	67289435	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67289435C>T	ENST00000294288.4	-	3	301	c.232G>A	c.(232-234)Gag>Aag	p.E78K	CABP2_ENST00000353903.5_Missense_Mutation_p.E21K	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	78	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						TCAATCTCCTCGGGCCGCAGC	0.632																																																	0													63.0	47.0	53.0					11																	67289435		2200	4295	6495	SO:0001583	missense	51475			AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.232G>A	11.37:g.67289435C>T	ENSP00000294288:p.Glu78Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E78K	ENST00000294288.4	37	c.232	CCDS8170.1	11	.	.	.	.	.	.	.	.	.	.	c	24.9	4.582228	0.86748	.	.	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.10192	2.9;2.9	3.9	3.9	0.45041	EF-hand-like domain (1);	0.162614	0.43579	D	0.000556	T	0.20414	0.0491	L	0.61036	1.89	0.52099	D	0.999941	D;D;D	0.64830	0.979;0.985;0.994	P;B;B	0.51487	0.671;0.313;0.42	T	0.01748	-1.1282	10	0.87932	D	0	-22.1732	13.7771	0.63059	0.0:1.0:0.0:0.0	.	84;21;78	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	K	21;78	ENSP00000312037:E21K;ENSP00000294288:E78K	ENSP00000294288:E78K	E	-	1	0	CABP2	67046011	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.870000	0.75526	2.172000	0.68678	0.550000	0.68814	GAG	CABP2	-	pfscan_EF_HAND_2		0.632	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	HGNC	protein_coding	OTTHUMT00000397516.1	C			67289435	-1	no_errors	ENST00000294288	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNA1A	773	genome.wustl.edu	37	19	13319680	13319680	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:13319680C>T	ENST00000360228.5	-	46	6669	c.6670G>A	c.(6670-6672)Gac>Aac	p.D2224N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D2225N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2225	Poly-Pro.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGTCCTTGTCGGGGGGCGGG	0.731																																																	0													2.0	3.0	3.0					19																	13319680		1555	3543	5098	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6670G>A	19.37:g.13319680C>T	ENSP00000353362:p.Asp2224Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.D2224N	ENST00000360228.5	37	c.6670	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	c	19.57	3.851597	0.71719	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.96619	-4.07	3.92	3.92	0.45320	.	.	.	.	.	D	0.96620	0.8897	L	0.44542	1.39	0.43673	D	0.996108	D;D;D;D	0.76494	0.996;0.991;0.999;0.968	P;P;D;P	0.72625	0.83;0.871;0.978;0.747	D	0.96583	0.9432	9	0.56958	D	0.05	.	12.9798	0.58557	0.0:1.0:0.0:0.0	.	2225;2230;2224;2213	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	N	2224;2230;2213;2225	ENSP00000353362:D2224N	ENSP00000317661:D2225N	D	-	1	0	CACNA1A	13180680	0.986000	0.35501	0.949000	0.38748	0.752000	0.42762	2.691000	0.47010	1.772000	0.52199	0.274000	0.19336	GAC	CACNA1A	-	NULL		0.731	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	C	NM_000068		13319680	-1	no_errors	ENST00000360228	ensembl	human	known	70_37	missense	SNP	0.998	T
CACNA1C	775	genome.wustl.edu	37	12	2711064	2711064	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:2711064G>C	ENST00000347598.4	+	23	2958	c.2958G>C	c.(2956-2958)cgG>cgC	p.R986R	CACNA1C_ENST00000399641.1_Silent_p.R966R|CACNA1C_ENST00000399634.1_Silent_p.R966R|CACNA1C_ENST00000399601.1_Silent_p.R966R|CACNA1C_ENST00000399629.1_Silent_p.R966R|CACNA1C_ENST00000402845.3_Silent_p.R966R|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000480911.1_Silent_p.R966R|CACNA1C_ENST00000399617.1_Silent_p.R966R|CACNA1C_ENST00000399597.1_Silent_p.R966R|CACNA1C_ENST00000399655.1_Silent_p.R966R|CACNA1C_ENST00000399591.1_Silent_p.R966R|CACNA1C_ENST00000399638.1_Silent_p.R966R|CACNA1C_ENST00000344100.3_Silent_p.R966R|CACNA1C_ENST00000399644.1_Silent_p.R966R|CACNA1C_ENST00000327702.7_Silent_p.R966R|CACNA1C_ENST00000399606.1_Silent_p.R986R|CACNA1C_ENST00000399621.1_Silent_p.R966R|CACNA1C_ENST00000399649.1_Silent_p.R966R|CACNA1C_ENST00000399637.1_Silent_p.R966R|CACNA1C_ENST00000406454.3_Silent_p.R966R|CACNA1C_ENST00000399603.1_Silent_p.R966R|CACNA1C_ENST00000399595.1_Silent_p.R966R|CACNA1C_ENST00000335762.5_Silent_p.R991R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	986					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTCTGCCGGAACTACTTCA	0.577																																																	0													156.0	157.0	157.0					12																	2711064		2203	4300	6503	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2958G>C	12.37:g.2711064G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R966	ENST00000347598.4	37	c.2898	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom		0.577	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2711064	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	1.000	C
CACNA2D2	9254	genome.wustl.edu	37	3	50402378	50402378	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:50402378G>A	ENST00000479441.1	-	38	3252	c.3253C>T	c.(3253-3255)Cta>Tta	p.L1085L	XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.L1080L|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.L1079L|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000423994.2_Silent_p.L1088L|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.L1078L|CACNA2D2_ENST00000435965.1_Silent_p.L1088L|CACNA2D2_ENST00000395083.1_Silent_p.L1081L|CACNA2D2_ENST00000360963.3_Silent_p.L1011L			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	1085					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTCTGCACTAGCTCACACTGC	0.716																																																	0													39.0	41.0	40.0					3																	50402378		2203	4300	6503	SO:0001819	synonymous_variant	9254			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.3253C>T	3.37:g.50402378G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L1088	ENST00000479441.1	37	c.3262	CCDS54588.1	3																																																																																			CACNA2D2	-	NULL		0.716	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	G	NM_006030		50402378	-1	no_errors	ENST00000435965	ensembl	human	known	70_37	silent	SNP	1.000	A
CACNB4	785	genome.wustl.edu	37	2	152698533	152698533	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152698533C>G	ENST00000539935.1	-	13	1253	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	CACNB4_ENST00000427385.1_Missense_Mutation_p.E378Q|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Missense_Mutation_p.E362Q|CACNB4_ENST00000360283.6_Missense_Mutation_p.E363Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.E349Q	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	396					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGTACGCCTCCAGGTACTCC	0.498																																																	0													123.0	123.0	123.0					2																	152698533		2056	4205	6261	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1186G>C	2.37:g.152698533C>G	ENSP00000438949:p.Glu396Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.E397Q	ENST00000539935.1	37	c.1189	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.067782	0.93950	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000339254	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.24	5.24	0.73138	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	T	0.76442	0.3988	M	0.91196	3.185	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.993;0.993;0.988	T	0.82178	-0.0586	10	0.87932	D	0	-19.129	19.1984	0.93699	0.0:1.0:0.0:0.0	.	396;378;362	O00305;B4DG40;O00305-2	CACB4_HUMAN;.;.	Q	396;363;391;362;349;378;397	ENSP00000438949:E396Q;ENSP00000353425:E363Q;ENSP00000390161:E391Q;ENSP00000443893:E362Q;ENSP00000380490:E349Q;ENSP00000410978:E378Q	ENSP00000343563:E397Q	E	-	1	0	CACNB4	152406779	1.000000	0.71417	0.798000	0.32154	0.953000	0.61014	7.754000	0.85163	2.609000	0.88269	0.655000	0.94253	GAG	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel		0.498	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	C	NM_000726.3		152698533	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	G
CADPS	8618	genome.wustl.edu	37	3	62499355	62499355	+	Intron	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:62499355G>T	ENST00000383710.4	-	17	2931				CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Missense_Mutation_p.P870T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAGAAGACAGGATGCTCATAC	0.428																																																	0													115.0	91.0	99.0					3																	62499355		2203	4300	6503	SO:0001627	intron_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-912C>A	3.37:g.62499355G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P870T	ENST00000383710.4	37	c.2608	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547792	0.45383	.	.	ENSG00000163618	ENST00000283269	T	0.42131	0.98	5.41	5.41	0.78517	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.50516	-0.8819	8	0.16420	T	0.52	.	19.5632	0.95380	0.0:0.0:1.0:0.0	.	870	Q9ULU8-3	.	T	870	ENSP00000283269:P870T	ENSP00000283269:P870T	P	-	1	0	CADPS	62474395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.710000	0.92621	0.655000	0.94253	CCT	CADPS	-	pfam_Ca-dep_secretion_activator		0.428	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394		62499355	-1	no_errors	ENST00000283269	ensembl	human	known	70_37	missense	SNP	1.000	T
CALB1	793	genome.wustl.edu	37	8	91081237	91081237	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:91081237C>T	ENST00000265431.3	-	5	542	c.361G>A	c.(361-363)Gag>Aag	p.E121K	CALB1_ENST00000518457.1_Missense_Mutation_p.E64K	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	121	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)	p.E121Q(1)		breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTAAGCTCCTCAGTTTCTATG	0.313																																					Melanoma(46;573 1182 27367 39727 48386)												1	Substitution - Missense(1)	lung(1)											74.0	72.0	72.0					8																	91081237		2202	4300	6502	SO:0001583	missense	793				CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.361G>A	8.37:g.91081237C>T	ENSP00000265431:p.Glu121Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R696|B7Z9J4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.E121K	ENST00000265431.3	37	c.361	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568252	0.45798	.	.	ENSG00000104327	ENST00000265431;ENST00000518457;ENST00000523716;ENST00000520613	T;T;T;T	0.73469	-0.49;-0.75;0.77;-0.31	5.66	5.66	0.87406	EF-hand-like domain (1);	0.064515	0.64402	D	0.000005	T	0.66277	0.2773	L	0.28608	0.87	0.58432	D	0.999995	P	0.38642	0.641	B	0.41723	0.365	T	0.62501	-0.6841	10	0.06236	T	0.91	-25.2678	19.76	0.96311	0.0:1.0:0.0:0.0	.	121	P05937	CALB1_HUMAN	K	121;64;64;64	ENSP00000265431:E121K;ENSP00000429602:E64K;ENSP00000429246:E64K;ENSP00000430281:E64K	ENSP00000265431:E121K	E	-	1	0	CALB1	91150413	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	5.205000	0.65186	2.666000	0.90696	0.655000	0.94253	GAG	CALB1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.313	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2	C	NM_004929		91081237	-1	no_errors	ENST00000265431	ensembl	human	known	70_37	missense	SNP	1.000	T
CALR	811	genome.wustl.edu	37	19	13050249	13050249	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:13050249G>C	ENST00000316448.5	+	3	274	c.201G>C	c.(199-201)caG>caC	p.Q67H		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	67	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CAGGTTTGCAGACAAGCCAGG	0.562											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													69.0	65.0	66.0					19																	13050249		2203	4300	6503	SO:0001583	missense	811			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.201G>C	19.37:g.13050249G>C	ENSP00000320866:p.Gln67His	Somatic	684	WXS	Illumina HiSeq	Phase_IV	Q6IAT4|Q9UDG2	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin,prints_Calret/calnex	p.Q67H	ENST00000316448.5	37	c.201	CCDS12288.1	19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.087670	0.76642	.	.	ENSG00000179218	ENST00000316448	T	0.53423	0.62	5.45	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	H	0.94542	3.55	0.80722	D	1	P	0.46784	0.884	B	0.39660	0.306	T	0.73145	-0.4075	10	0.72032	D	0.01	-45.0445	12.5694	0.56328	0.082:0.0:0.918:0.0	.	67	P27797	CALR_HUMAN	H	67	ENSP00000320866:Q67H	ENSP00000320866:Q67H	Q	+	3	2	CALR	12911249	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.025000	0.41059	2.546000	0.85860	0.561000	0.74099	CAG	CALR	-	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,pirsf_Calreticulin		0.562	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	HGNC	protein_coding	OTTHUMT00000451952.1	G	NM_004343		13050249	+1	no_errors	ENST00000316448	ensembl	human	known	70_37	missense	SNP	1.000	C
CAMSAP1	157922	genome.wustl.edu	37	9	138714509	138714509	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:138714509C>G	ENST00000389532.4	-	11	2062	c.1998G>C	c.(1996-1998)gaG>gaC	p.E666D	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.E677D|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.E388D	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	666					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGGTCCTGTCTCGGTGGGGT	0.577																																																	0													48.0	51.0	50.0					9																	138714509		2203	4300	6503	SO:0001583	missense	157922			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1998G>C	9.37:g.138714509C>G	ENSP00000374183:p.Glu666Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E677D	ENST00000389532.4	37	c.2031	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	C	10.41	1.341704	0.24339	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.15139	2.46;2.45;2.46	5.03	3.0	0.34707	.	1.161590	0.06569	N	0.748121	T	0.10208	0.0250	N	0.14661	0.345	0.28124	N	0.930494	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.29792	-1.0000	10	0.87932	D	0	-4.9181	2.3345	0.04244	0.3033:0.3699:0.2316:0.0952	.	666;677	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	D	666;388;677	ENSP00000374183:E666D;ENSP00000312463:E388D;ENSP00000386420:E677D	ENSP00000312463:E388D	E	-	3	2	CAMSAP1	137854330	0.025000	0.19082	0.174000	0.22961	0.005000	0.04900	0.358000	0.20216	1.106000	0.41623	-0.136000	0.14681	GAG	CAMSAP1	-	NULL		0.577	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	C	XM_351857		138714509	-1	no_errors	ENST00000409386	ensembl	human	known	70_37	missense	SNP	0.688	G
CAPN13	92291	genome.wustl.edu	37	2	30976051	30976051	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:30976051C>G	ENST00000295055.8	-	10	1131	c.955G>C	c.(955-957)Gat>Cat	p.D319H	CAPN13_ENST00000534090.2_Missense_Mutation_p.D319H	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	319	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTGGAAATCTTGACACGAC	0.448																																																	0													168.0	150.0	156.0					2																	30976051		1909	4120	6029	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.955G>C	2.37:g.30976051C>G	ENSP00000295055:p.Asp319His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.D319H	ENST00000295055.8	37	c.955	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259610	0.59321	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.92858	-3.12;-3.12	5.27	5.27	0.74061	Peptidase C2, calpain, catalytic domain (3);	0.043497	0.85682	D	0.000000	D	0.97278	0.9110	H	0.95950	3.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98249	1.0492	10	0.87932	D	0	.	14.3858	0.66942	0.0:1.0:0.0:0.0	.	319	Q6MZZ7	CAN13_HUMAN	H	319	ENSP00000295055:D319H;ENSP00000431298:D319H	ENSP00000295055:D319H	D	-	1	0	CAPN13	30829555	0.998000	0.40836	1.000000	0.80357	0.598000	0.36846	1.874000	0.39568	2.462000	0.83206	0.561000	0.74099	GAT	CAPN13	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease		0.448	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	HGNC	protein_coding	OTTHUMT00000325101.2	C	NM_144575		30976051	-1	no_errors	ENST00000295055	ensembl	human	known	70_37	missense	SNP	1.000	G
CARD14	79092	genome.wustl.edu	37	17	78177625	78177625	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:78177625C>T	ENST00000573882.1	+	18	2760	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	CARD14_ENST00000344227.2_Nonsense_Mutation_p.Q742*|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000392434.2_3'UTR|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	742					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCAGGGCTCAGCAGCAGCT	0.687																																																	0													24.0	21.0	22.0					17																	78177625		2192	4289	6481	SO:0001587	stop_gained	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2224C>T	17.37:g.78177625C>T	ENSP00000458715:p.Gln742*	Somatic		WXS	Illumina HiSeq	Phase_IV	B8QQJ3|Q9BVB5	Nonsense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.Q742*	ENST00000573882.1	37	c.2224	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.313491	0.99381	.	.	ENSG00000141527	ENST00000344227	.	.	.	4.12	4.12	0.48240	.	0.064020	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.1333	15.1677	0.72842	0.0:1.0:0.0:0.0	.	.	.	.	X	742	.	ENSP00000344549:Q742X	Q	+	1	0	CARD14	75792220	0.998000	0.40836	0.999000	0.59377	0.898000	0.52572	3.614000	0.54160	1.865000	0.54081	0.485000	0.47835	CAG	CARD14	-	NULL		0.687	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	C			78177625	+1	no_errors	ENST00000344227	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CARD14	79092	genome.wustl.edu	37	17	78177634	78177634	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:78177634C>G	ENST00000573882.1	+	18	2769	c.2233C>G	c.(2233-2235)Ctc>Gtc	p.L745V	CARD14_ENST00000344227.2_Missense_Mutation_p.L745V|RP11-334C17.5_ENST00000572730.1_RNA|CARD14_ENST00000392434.2_3'UTR|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	745					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCAGCAGCAGCTCATAGCCCT	0.677																																																	0													26.0	23.0	24.0					17																	78177634		2195	4293	6488	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2233C>G	17.37:g.78177634C>G	ENSP00000458715:p.Leu745Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin	p.L745V	ENST00000573882.1	37	c.2233	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527133	0.44969	.	.	ENSG00000141527	ENST00000344227	T	0.05580	3.42	4.12	3.12	0.35913	.	0.230009	0.36303	N	0.002679	T	0.11836	0.0288	M	0.77103	2.36	0.80722	D	1	B	0.28082	0.2	B	0.33121	0.158	T	0.02437	-1.1159	10	0.44086	T	0.13	-14.9942	12.0181	0.53326	0.1747:0.8252:0.0:0.0	.	745	Q9BXL6	CAR14_HUMAN	V	745	ENSP00000344549:L745V	ENSP00000344549:L745V	L	+	1	0	CARD14	75792229	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	3.531000	0.53546	0.714000	0.32081	0.485000	0.47835	CTC	CARD14	-	NULL		0.677	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	C			78177634	+1	no_errors	ENST00000344227	ensembl	human	known	70_37	missense	SNP	0.995	G
CARS2	79587	genome.wustl.edu	37	13	111299498	111299498	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:111299498C>T	ENST00000257347.4	-	11	1206	c.1143G>A	c.(1141-1143)atG>atA	p.M381I	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	381					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCTGCCCCTTCATGTAGGCAC	0.657																																																	0													50.0	40.0	43.0					13																	111299498		2203	4300	6503	SO:0001583	missense	79587			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1143G>A	13.37:g.111299498C>T	ENSP00000257347:p.Met381Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NI84|Q96IV4	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase	p.M381I	ENST00000257347.4	37	c.1143	CCDS9514.1	13	.	.	.	.	.	.	.	.	.	.	C	6.943	0.543774	0.13312	.	.	ENSG00000134905	ENST00000542993;ENST00000257347	T	0.27720	1.65	5.09	2.25	0.28309	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.278830	0.42821	N	0.000651	T	0.20251	0.0487	L	0.45228	1.405	0.31115	N	0.709512	B	0.06786	0.001	B	0.06405	0.002	T	0.14671	-1.0464	10	0.26408	T	0.33	-19.0603	4.0042	0.09593	0.1659:0.5828:0.1605:0.0908	.	381	Q9HA77	SYCM_HUMAN	I	119;381	ENSP00000257347:M381I	ENSP00000257347:M381I	M	-	3	0	CARS2	110097499	0.892000	0.30473	0.293000	0.24932	0.524000	0.34500	0.217000	0.17603	0.124000	0.18369	0.561000	0.74099	ATG	CARS2	-	superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase		0.657	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	HGNC	protein_coding	OTTHUMT00000045772.3	C	NM_024537		111299498	-1	no_errors	ENST00000257347	ensembl	human	known	70_37	missense	SNP	0.975	T
CASKIN2	57513	genome.wustl.edu	37	17	73498414	73498414	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:73498414G>C	ENST00000321617.3	-	18	3327	c.2741C>G	c.(2740-2742)tCa>tGa	p.S914*	CASKIN2_ENST00000433559.2_Nonsense_Mutation_p.S832*	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	914	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGGGGCTCTGAGGGGCCAGC	0.726																																																	0													3.0	4.0	4.0					17																	73498414		1890	3817	5707	SO:0001587	stop_gained	57513			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2741C>G	17.37:g.73498414G>C	ENSP00000325355:p.Ser914*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.S914*	ENST00000321617.3	37	c.2741	CCDS11723.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.632017	0.98892	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	.	.	.	5.0	2.88	0.33553	.	0.192333	0.25729	N	0.028700	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	6.1407	0.20259	0.1717:0.2859:0.5424:0.0	.	.	.	.	X	914;832	.	ENSP00000325355:S914X	S	-	2	0	CASKIN2	71010009	0.000000	0.05858	0.003000	0.11579	0.292000	0.27327	-0.138000	0.10374	0.619000	0.30197	0.591000	0.81541	TCA	CASKIN2	-	NULL		0.726	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN2	HGNC	protein_coding	OTTHUMT00000447609.1	G	NM_020753		73498414	-1	no_errors	ENST00000321617	ensembl	human	known	70_37	nonsense	SNP	0.003	C
CASP16	197350	genome.wustl.edu	37	16	3199714	3199714	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3199714G>A	ENST00000428155.1	+	10	1183	c.457G>A	c.(457-459)Gag>Aag	p.E153K				P0CB46	CASPG_HUMAN	caspase 16, apoptosis-related cysteine peptidase (putative)	153					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)	cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)										GCGGGTGTGCGAGCAGGAGGT	0.711																																																	0																																										SO:0001583	missense	197350					16p13.3	2014-04-01			ENSG00000228146	ENSG00000228146			27290	protein-coding gene	gene with protein product						18281271	Standard	XM_003403459		Approved		uc002cuf.1	P0CB46	OTTHUMG00000177520	ENST00000428155.1:c.457G>A	16.37:g.3199714G>A	ENSP00000400592:p.Glu153Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20	p.E153K	ENST00000428155.1	37	c.457		16	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041167	0.55003	.	.	ENSG00000228146	ENST00000428155	.	.	.	4.83	2.86	0.33363	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);	.	.	.	.	T	0.30947	0.0781	L	0.31664	0.95	0.32420	N	0.549486	P	0.52577	0.954	P	0.44897	0.463	T	0.35450	-0.9788	8	0.39692	T	0.17	.	6.8057	0.23777	0.0949:0.1761:0.729:0.0	.	153	P0CB46	CS14L_HUMAN	K	220	.	ENSP00000400592:E220K	E	+	1	0	AC108134.2	3139715	1.000000	0.71417	0.988000	0.46212	0.321000	0.28281	1.230000	0.32612	0.631000	0.30412	0.655000	0.94253	GAG	CASP16	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10		0.711	CASP16-001	KNOWN	basic|appris_principal	protein_coding	CASP16	HGNC	protein_coding	OTTHUMT00000437342.1	G	XM_003403459		3199714	+1	no_errors	ENST00000428155	ensembl	human	known	70_37	missense	SNP	0.997	A
CASP2	835	genome.wustl.edu	37	7	142985551	142985552	+	Start_Codon_Ins	INS	-	-	GCGGC			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:142985551_142985552insGCGGC	ENST00000310447.5	+	0	244_245				RN7SL535P_ENST00000479087.2_RNA|AC073342.12_ENST00000427392.1_RNA|CASP2_ENST00000392925.2_Start_Codon_Ins|AC073342.12_ENST00000446192.1_RNA	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase						aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGCGGGAAATGGCGGCGCCGAG	0.668																																																	0																																										SO:0001582	initiator_codon_variant	835			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.4_8dupGCGGC	7.37:g.142985552_142985556dupGCGGC		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Frame_Shift_Ins	INS	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.P3fs	ENST00000310447.5	37	c.3_4	CCDS5879.1	7																																																																																			CASP2	-	NULL		0.668	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP2	HGNC	protein_coding	OTTHUMT00000059962.3	-	NM_032982		142985552	+1	no_errors	ENST00000310447	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GCGGC
CASP7	840	genome.wustl.edu	37	10	115485290	115485290	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:115485290C>T	ENST00000345633.4	+	6	930	c.546C>T	c.(544-546)ttC>ttT	p.F182F	CASP7_ENST00000369331.4_Intron|CASP7_ENST00000369321.2_Silent_p.F215F|CASP7_ENST00000369318.3_Silent_p.F182F|CASP7_ENST00000452490.2_Silent_p.F157F|CASP7_ENST00000369315.1_Silent_p.F182F	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	182					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AACTCTTCTTCATTCAGGTAA	0.398																																																	0													52.0	54.0	53.0					10																	115485290		2203	4300	6503	SO:0001819	synonymous_variant	840			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.546C>T	10.37:g.115485290C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Silent	SNP	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.F215	ENST00000345633.4	37	c.645	CCDS7581.1	10																																																																																			CASP7	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core		0.398	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP7	HGNC	protein_coding	OTTHUMT00000050439.1	C	NM_033338		115485290	+1	no_errors	ENST00000369321	ensembl	human	known	70_37	silent	SNP	1.000	T
CASP8AP2	9994	genome.wustl.edu	37	6	90577846	90577846	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:90577846G>A	ENST00000551025.1	+	0	6274									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTCAACTCATGAAGAACAGAG	0.358																																					Colon(187;1656 2025 17045 31481 39901)												0													52.0	51.0	51.0					6																	90577846		1855	4101	5956			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577846G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.358	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90577846	+1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	0.959	A
CCDC112	153733	genome.wustl.edu	37	5	114611699	114611699	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:114611699C>G	ENST00000512261.1	-	6	686	c.270G>C	c.(268-270)caG>caC	p.Q90H	CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000506442.1_Missense_Mutation_p.Q90H|CCDC112_ENST00000395557.4_Missense_Mutation_p.Q90H|CCDC112_ENST00000379611.5_Missense_Mutation_p.Q173H			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	90										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ACATCAACCTCTGCTCTTCTT	0.284																																																	0													74.0	78.0	77.0					5																	114611699		2199	4293	6492	SO:0001583	missense	153733			BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.270G>C	5.37:g.114611699C>G	ENSP00000423712:p.Gln90His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6A334	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.Q173H	ENST00000512261.1	37	c.519	CCDS4117.1	5	.	.	.	.	.	.	.	.	.	.	C	16.92	3.256059	0.59321	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.23552	1.94;1.9;1.91;1.9	5.58	2.84	0.33178	.	0.052906	0.85682	D	0.000000	T	0.43942	0.1270	M	0.61703	1.905	0.30287	N	0.790723	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.939;0.939;0.987	T	0.44019	-0.9355	10	0.66056	D	0.02	-12.0063	9.5867	0.39521	0.0:0.7221:0.0:0.2779	.	90;173;90	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	H	173;90;90;90	ENSP00000368931:Q173H;ENSP00000423712:Q90H;ENSP00000424876:Q90H;ENSP00000378925:Q90H	ENSP00000368931:Q173H	Q	-	3	2	CCDC112	114639598	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.712000	0.37940	0.306000	0.22856	0.460000	0.39030	CAG	CCDC112	-	NULL		0.284	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	CCDC112	HGNC	protein_coding	OTTHUMT00000370999.1	C	NM_152549		114611699	-1	no_errors	ENST00000379611	ensembl	human	known	70_37	missense	SNP	0.998	G
CCDC124	115098	genome.wustl.edu	37	19	18047326	18047326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:18047326G>T	ENST00000597436.1	+	2	204	c.97G>T	c.(97-99)Gag>Tag	p.E33*	CCDC124_ENST00000445755.2_Nonsense_Mutation_p.E33*	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	33					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GAAGCAGAAGGAGCTGGAGGA	0.637																																																	0													62.0	56.0	58.0					19																	18047326		2202	4299	6501	SO:0001587	stop_gained	115098			BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.97G>T	19.37:g.18047326G>T	ENSP00000471455:p.Glu33*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_DUF1014,superfamily_HMG_superfamily	p.E33*	ENST00000597436.1	37	c.97	CCDS12369.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.723330	0.96847	.	.	ENSG00000007080	ENST00000445755	.	.	.	4.52	4.52	0.55395	.	0.121211	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-11.0976	14.8012	0.69916	0.0:0.0:1.0:0.0	.	.	.	.	X	33	.	ENSP00000408730:E33X	E	+	1	0	CCDC124	17908326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.793000	0.69060	2.089000	0.63090	0.555000	0.69702	GAG	CCDC124	-	NULL		0.637	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC124	HGNC	protein_coding	OTTHUMT00000466484.1	G	NM_138442		18047326	+1	no_errors	ENST00000445755	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CCDC114	93233	genome.wustl.edu	37	19	48824026	48824026	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:48824026G>A	ENST00000315396.7	-	0	0				CCDC114_ENST00000497803.1_5'UTR	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114						outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGACGGGCCTGACCTGTTCTT	0.642																																																	0																																										SO:0001631	upstream_gene_variant	93233			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161		19.37:g.48824026G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRL4|Q96M06|Q9UFG8	RNA	SNP	-	NULL	ENST00000315396.7	37	NULL	CCDS12714.2	19																																																																																			CCDC114	-	-		0.642	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	G	NM_144577		48824026	-1	no_errors	ENST00000497803	ensembl	human	known	70_37	rna	SNP	0.434	A
CCDC13	152206	genome.wustl.edu	37	3	42791400	42791400	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:42791400G>C	ENST00000310232.6	-	5	687				CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13											endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AATGTGGATTGAGCCTGCAGG	0.587											OREG0015509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.603+2027C>G	3.37:g.42791400G>C		Somatic	911	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000310232.6	37	NULL	CCDS2705.1	3																																																																																			CCDC13	-	-		0.587	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	G	NM_144719		42791400	-1	no_errors	ENST00000435327	ensembl	human	known	70_37	rna	SNP	0.000	C
CCDC175	729665	genome.wustl.edu	37	14	60035004	60035004	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:60035004C>A	ENST00000537690.2	-	4	505	c.450G>T	c.(448-450)aaG>aaT	p.K150N	CCDC175_ENST00000281581.4_Missense_Mutation_p.K150N	NM_001164399.1	NP_001157871.1	P0C221	CC175_HUMAN	coiled-coil domain containing 175	150																	TTATTTTCTTCTTCAGAAGCT	0.373																																																	0													196.0	159.0	171.0					14																	60035004		692	1591	2283	SO:0001583	missense	729665				CCDS53898.1	14q23.1	2012-09-24	2012-09-24	2012-09-24	ENSG00000151838	ENSG00000151838			19847	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 38"""	C14orf38			Standard	NM_001164399		Approved		uc021rtw.1	P0C221		ENST00000537690.2:c.450G>T	14.37:g.60035004C>A	ENSP00000453940:p.Lys150Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V5J7	Missense_Mutation	SNP	superfamily_Prefoldin	p.K150N	ENST00000537690.2	37	c.450	CCDS53898.1	14	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879931	0.33162	.	.	ENSG00000151838	ENST00000555041	.	.	.	5.62	3.49	0.39957	.	0.764074	0.12709	N	0.445672	T	0.37128	0.0992	L	0.41236	1.265	0.09310	N	1	.	.	.	.	.	.	T	0.21042	-1.0257	6	.	.	.	-7.7948	7.4057	0.26989	0.2304:0.603:0.1666:0.0	.	.	.	.	N	150	.	.	K	-	3	2	C14orf38	59104757	0.012000	0.17670	0.704000	0.30370	0.573000	0.36030	0.342000	0.19926	1.472000	0.48140	0.655000	0.94253	AAG	CCDC175	-	NULL		0.373	CCDC175-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC175	HGNC	protein_coding	OTTHUMT00000471273.1	C	NM_001164399		60035004	-1	no_errors	ENST00000281581	ensembl	human	known	70_37	missense	SNP	0.220	A
CCDC87	55231	genome.wustl.edu	37	11	66359139	66359139	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66359139C>G	ENST00000333861.3	-	1	1415	c.1348G>C	c.(1348-1350)Gat>Cat	p.D450H	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	450					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AAGTTTCTATCAGAGACCCGT	0.507																																																	0													50.0	56.0	54.0					11																	66359139		2200	4295	6495	SO:0001583	missense	55231			BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1348G>C	11.37:g.66359139C>G	ENSP00000328487:p.Asp450His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NE76	Missense_Mutation	SNP	pfam_MAP65_Ase1_PRC1	p.D450H	ENST00000333861.3	37	c.1348	CCDS8145.1	11	.	.	.	.	.	.	.	.	.	.	C	11.43	1.636746	0.29068	.	.	ENSG00000182791	ENST00000333861	T	0.37752	1.18	5.3	2.38	0.29361	.	1.093840	0.07121	N	0.843820	T	0.25306	0.0615	N	0.22421	0.69	0.09310	N	1	P	0.44578	0.838	B	0.40901	0.343	T	0.17228	-1.0376	10	0.72032	D	0.01	.	4.5918	0.12310	0.1744:0.6461:0.0:0.1795	.	450	Q9NVE4	CCD87_HUMAN	H	450	ENSP00000328487:D450H	ENSP00000328487:D450H	D	-	1	0	CCDC87	66115715	0.003000	0.15002	0.037000	0.18230	0.436000	0.31835	1.675000	0.37555	0.365000	0.24400	-0.251000	0.11542	GAT	CCDC87	-	NULL		0.507	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC87	HGNC	protein_coding	OTTHUMT00000393825.1	C	NM_018219		66359139	-1	no_errors	ENST00000333861	ensembl	human	known	70_37	missense	SNP	0.141	G
CCDC82	79780	genome.wustl.edu	37	11	96117183	96117183	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:96117183G>C	ENST00000278520.5	-	3	1157	c.729C>G	c.(727-729)ctC>ctG	p.L243L	CCDC82_ENST00000542662.1_Silent_p.L243L|CCDC82_ENST00000423339.2_Silent_p.L243L			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	243										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		AGAGTTCTTTGAGCTTCTGAA	0.378																																																	0													101.0	100.0	100.0					11																	96117183		2201	4297	6498	SO:0001819	synonymous_variant	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.729C>G	11.37:g.96117183G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	NULL	p.L243	ENST00000278520.5	37	c.729	CCDS8307.1	11																																																																																			CCDC82	-	NULL		0.378	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	G	NM_024725		96117183	-1	no_errors	ENST00000278520	ensembl	human	known	70_37	silent	SNP	0.339	C
CCDC96	257236	genome.wustl.edu	37	4	7043586	7043586	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:7043586C>T	ENST00000310085.4	-	1	1142	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	360										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						ACGCCTGGATCTGCTCCACCT	0.597																																																	0													68.0	80.0	76.0					4																	7043586		2203	4300	6503	SO:0001819	synonymous_variant	257236			AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.1080G>A	4.37:g.7043586C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2I7	Silent	SNP	NULL	p.Q360	ENST00000310085.4	37	c.1080	CCDS3395.1	4																																																																																			CCDC96	-	NULL		0.597	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC96	HGNC	protein_coding	OTTHUMT00000246838.1	C	NM_153376		7043586	-1	no_errors	ENST00000310085	ensembl	human	known	70_37	silent	SNP	0.996	T
CCNB1IP1	57820	genome.wustl.edu	37	14	20779661	20779661	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:20779661C>G	ENST00000398169.3	-	0	1498				CCNB1IP1_ENST00000398160.2_3'UTR|CCNB1IP1_ENST00000358932.4_3'UTR|CCNB1IP1_ENST00000353689.4_3'UTR|CCNB1IP1_ENST00000437553.2_3'UTR|CCNB1IP1_ENST00000398163.2_3'UTR			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase						blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		ctcccagcctcaacctcctaa	0.502			T	HMGA2	leiomyoma																																			Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	0													43.0	49.0	47.0					14																	20779661		2203	4300	6503	SO:0001624	3_prime_UTR_variant	57820			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.*48G>C	14.37:g.20779661C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000398169.3	37	NULL	CCDS9547.1	14																																																																																			CCNB1IP1	-	-		0.502	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	CCNB1IP1	HGNC	protein_coding	OTTHUMT00000073538.3	C	NM_021178, NM_182849, NM_182851, NM_182852		20779661	-1	no_errors	ENST00000556204	ensembl	human	known	70_37	rna	SNP	0.012	G
CCR5	1234	genome.wustl.edu	37	3	46415353	46415353	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46415353C>T	ENST00000292303.4	+	2	1106	c.960C>T	c.(958-960)ttC>ttT	p.F320F	CCR5_ENST00000445772.1_Silent_p.F320F|CCR5_ENST00000343801.4_Silent_p.F320F|RP11-24F11.2_ENST00000451485.1_RNA	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	320					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CCAAACGCTTCTGCAAATGCT	0.498																																																	0													134.0	131.0	132.0					3																	46415353		2203	4296	6499	SO:0001819	synonymous_variant	1234				CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.960C>T	3.37:g.46415353C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt	p.F320	ENST00000292303.4	37	c.960	CCDS2739.1	3																																																																																			CCR5	-	NULL		0.498	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR5	HGNC	protein_coding	OTTHUMT00000257377.2	C	NM_000579		46415353	+1	no_errors	ENST00000292303	ensembl	human	known	70_37	silent	SNP	0.531	T
CCRL2	9034	genome.wustl.edu	37	3	46450134	46450134	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46450134C>G	ENST00000399036.3	+	2	916	c.564C>G	c.(562-564)ttC>ttG	p.F188L	RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000400882.2_Missense_Mutation_p.F188L|CCRL2_ENST00000400880.3_Missense_Mutation_p.F188L|CCRL2_ENST00000357392.4_Missense_Mutation_p.F200L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	188					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		GAACTCCCTTCCTGCCAGCTG	0.413																																																	0													106.0	103.0	104.0					3																	46450134		1910	4121	6031	SO:0001583	missense	9034			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.564C>G	3.37:g.46450134C>G	ENSP00000381994:p.Phe188Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.F200L	ENST00000399036.3	37	c.600	CCDS43079.1	3	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047435	0.36085	.	.	ENSG00000121797	ENST00000399036;ENST00000357392;ENST00000400880;ENST00000433848;ENST00000400882	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	5.39	0.703	0.18116	GPCR, rhodopsin-like superfamily (1);	2.963490	0.00988	N	0.003486	T	0.42854	0.1221	M	0.76433	2.335	0.09310	N	1	B;B	0.19331	0.028;0.035	B;B	0.20184	0.016;0.028	T	0.35325	-0.9793	10	0.62326	D	0.03	.	7.8739	0.29582	0.0:0.3421:0.0:0.6579	.	200;188	O00421-2;O00421	.;CCRL2_HUMAN	L	188;200;188;188;188	ENSP00000381994:F188L;ENSP00000349967:F200L;ENSP00000383677:F188L;ENSP00000414957:F188L;ENSP00000383678:F188L	ENSP00000349967:F200L	F	+	3	2	CCRL2	46425138	0.116000	0.22171	0.097000	0.21041	0.177000	0.22998	0.586000	0.23894	-0.016000	0.14127	0.484000	0.47621	TTC	CCRL2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.413	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	C			46450134	+1	no_errors	ENST00000357392	ensembl	human	known	70_37	missense	SNP	0.000	G
CD109	135228	genome.wustl.edu	37	6	74519827	74519827	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:74519827C>T	ENST00000287097.5	+	27	3588	c.3476C>T	c.(3475-3477)tCt>tTt	p.S1159F	CD109_ENST00000437994.2_Missense_Mutation_p.S1159F|CD109_ENST00000422508.2_Missense_Mutation_p.S1082F			Q6YHK3	CD109_HUMAN	CD109 molecule	1159					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCAGACTTCTGAGGGAATC	0.448																																																	0													70.0	67.0	68.0					6																	74519827		2203	4299	6502	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3476C>T	6.37:g.74519827C>T	ENSP00000287097:p.Ser1159Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S1159F	ENST00000287097.5	37	c.3476	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435616	0.12104	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.38401	1.14;1.14;1.14	5.3	3.51	0.40186	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	1.029350	0.07689	N	0.938369	T	0.15046	0.0363	L	0.43598	1.365	0.09310	N	1	B;B;B	0.32101	0.06;0.356;0.048	B;B;B	0.33339	0.019;0.162;0.1	T	0.38001	-0.9681	10	0.66056	D	0.02	.	6.6237	0.22818	0.257:0.6035:0.0:0.1394	.	1082;1159;1159	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	F	1159;1082;1159	ENSP00000388062:S1159F;ENSP00000404475:S1082F;ENSP00000287097:S1159F	ENSP00000287097:S1159F	S	+	2	0	CD109	74576548	0.000000	0.05858	0.001000	0.08648	0.359000	0.29487	0.478000	0.22212	0.785000	0.33685	-0.182000	0.12963	TCT	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.448	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	C	NM_133493		74519827	+1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	0.000	T
CD1A	909	genome.wustl.edu	37	1	158226847	158226847	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:158226847C>T	ENST00000289429.5	+	4	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	292					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567																																																	0													52.0	51.0	51.0					1																	158226847		2203	4300	6503	SO:0001819	synonymous_variant	909			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.876C>T	1.37:g.158226847C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L292	ENST00000289429.5	37	c.876	CCDS1174.1	1																																																																																			CD1A	-	NULL		0.567	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1A	HGNC	protein_coding	OTTHUMT00000046349.2	C	NM_001763		158226847	+1	no_errors	ENST00000289429	ensembl	human	known	70_37	silent	SNP	0.942	T
CD1B	910	genome.wustl.edu	37	1	158300813	158300813	+	Missense_Mutation	SNP	G	G	A	rs201728287		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:158300813G>A	ENST00000368168.3	-	2	208	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	34					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGTAAAGGACGAGGTCTGGAT	0.488																																																	0								G	LEU/SER	0,4406		0,0,2203	230.0	221.0	224.0		101	1.2	0.0	1		224	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD1B	NM_001764.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	34/334	158300813	1,13005	2203	4300	6503	SO:0001583	missense	910			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.101C>T	1.37:g.158300813G>A	ENSP00000357150:p.Ser34Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.S34L	ENST00000368168.3	37	c.101	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	G	9.888	1.203315	0.22121	0.0	1.16E-4	ENSG00000158485	ENST00000368168	T	0.18174	2.23	4.15	1.22	0.21188	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.234460	0.22253	N	0.062528	T	0.12689	0.0308	M	0.84219	2.685	0.09310	N	1	P;P	0.51351	0.939;0.944	P;B	0.48063	0.565;0.382	T	0.06127	-1.0844	10	0.51188	T	0.08	-0.7329	6.4803	0.22060	0.3161:0.0:0.6839:0.0	.	34;34	B4E0D2;P29016	.;CD1B_HUMAN	L	34	ENSP00000357150:S34L	ENSP00000357150:S34L	S	-	2	0	CD1B	156567437	0.001000	0.12720	0.004000	0.12327	0.003000	0.03518	0.840000	0.27600	0.161000	0.19458	-0.136000	0.14681	TCG	CD1B	-	superfamily_MHC_I/II-like_Ag-recog		0.488	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	G	NM_001764		158300813	-1	no_errors	ENST00000368168	ensembl	human	known	70_37	missense	SNP	0.005	A
CD226	10666	genome.wustl.edu	37	18	67534613	67534613	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:67534613C>G	ENST00000280200.4	-	6	1133	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	CD226_ENST00000582621.1_Missense_Mutation_p.E289Q|CD226_ENST00000577287.1_Missense_Mutation_p.E134Q|CD226_ENST00000581982.1_Missense_Mutation_p.E134Q	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	289					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TCCCAGGACTCTGTAAATAGA	0.333																																					NSCLC(184;838 2130 8673 21498 50749)												0													272.0	262.0	265.0					18																	67534613		2203	4300	6503	SO:0001583	missense	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.865G>C	18.37:g.67534613C>G	ENSP00000280200:p.Glu289Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R818	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E289Q	ENST00000280200.4	37	c.865	CCDS11997.1	18	.	.	.	.	.	.	.	.	.	.	C	9.755	1.168561	0.21621	.	.	ENSG00000150637	ENST00000280200	T	0.24350	1.86	4.61	1.74	0.24563	.	0.957732	0.08663	N	0.912111	T	0.19087	0.0458	L	0.29908	0.895	0.09310	N	1	P	0.44877	0.845	B	0.41135	0.348	T	0.16512	-1.0400	10	0.62326	D	0.03	.	5.8282	0.18566	0.0:0.6498:0.0:0.3502	.	289	Q15762	CD226_HUMAN	Q	289	ENSP00000280200:E289Q	ENSP00000280200:E289Q	E	-	1	0	CD226	65685593	0.001000	0.12720	0.002000	0.10522	0.022000	0.10575	-0.035000	0.12205	0.382000	0.24878	0.655000	0.94253	GAG	CD226	-	NULL		0.333	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	C	NM_006566		67534613	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	missense	SNP	0.003	G
CDC14A	8556	genome.wustl.edu	37	1	100933537	100933537	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:100933537G>T	ENST00000336454.3	+	10	1219	c.864G>T	c.(862-864)ttG>ttT	p.L288F	CDC14A_ENST00000370125.2_3'UTR|RP5-837M10.4_ENST00000432210.1_RNA|CDC14A_ENST00000370124.3_Missense_Mutation_p.L288F|CDC14A_ENST00000361544.6_Missense_Mutation_p.L288F|CDC14A_ENST00000542213.1_Missense_Mutation_p.L230F|CDC14A_ENST00000544534.1_Missense_Mutation_p.L288F	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	288	B.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CAGGGACATTGATAGCCTGTT	0.388																																																	0													140.0	139.0	140.0					1																	100933537		2203	4300	6503	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.864G>T	1.37:g.100933537G>T	ENSP00000336739:p.Leu288Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L288F	ENST00000336454.3	37	c.864	CCDS769.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377981	0.61735	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000370124;ENST00000336454;ENST00000544534	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	5.02	4.1	0.47936	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (1);	0.069354	0.64402	D	0.000016	T	0.43188	0.1236	L	0.58669	1.825	0.80722	D	1	P;D;D;D;D	0.89917	0.952;1.0;0.999;0.998;1.0	P;D;D;D;D	0.87578	0.698;0.987;0.987;0.978;0.998	T	0.42120	-0.9470	10	0.87932	D	0	-4.4718	8.6377	0.33959	0.0808:0.1536:0.7656:0.0	.	230;288;288;288;288	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2;Q52LH9	.;.;CC14A_HUMAN;.;.	F	230;288;288;288;288	ENSP00000442640:L230F;ENSP00000354916:L288F;ENSP00000359142:L288F;ENSP00000336739:L288F;ENSP00000442543:L288F	ENSP00000336739:L288F	L	+	3	2	CDC14A	100706125	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	2.234000	0.43035	2.333000	0.79357	0.591000	0.81541	TTG	CDC14A	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat		0.388	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDC14A	HGNC	protein_coding	OTTHUMT00000030220.1	G	NM_033312		100933537	+1	no_errors	ENST00000361544	ensembl	human	known	70_37	missense	SNP	1.000	T
CDCA3	83461	genome.wustl.edu	37	12	6958994	6958994	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:6958994C>G	ENST00000538862.2	-	4	1180	c.279G>C	c.(277-279)ctG>ctC	p.L93L	CDCA3_ENST00000229265.6_Intron|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000540683.1_Silent_p.L93L|CDCA3_ENST00000422785.3_Silent_p.L93L|USP5_ENST00000389231.5_5'Flank|CDCA3_ENST00000535406.1_Silent_p.L93L|CDCA3_ENST00000604599.1_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	93	F-box-like.				mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATACTTCACTCAGCTGTTTCA	0.463																																																	0													69.0	78.0	75.0					12																	6958994		2200	4299	6499	SO:0001819	synonymous_variant	83461			BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.279G>C	12.37:g.6958994C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V6|D3DUS6	Silent	SNP	NULL	p.L93	ENST00000538862.2	37	c.279	CCDS8565.1	12																																																																																			CDCA3	-	NULL		0.463	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA3	HGNC	protein_coding	OTTHUMT00000401940.2	C	NM_031299		6958994	-1	no_errors	ENST00000538862	ensembl	human	known	70_37	silent	SNP	0.999	G
CDCA4	55038	genome.wustl.edu	37	14	105477720	105477720	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105477720C>G	ENST00000336219.3	-	2	702	c.547G>C	c.(547-549)Gac>Cac	p.D183H	CDCA4_ENST00000392590.3_Missense_Mutation_p.D183H	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	183						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CTGTCCACGTCTGAGAACAGC	0.572																																																	0													77.0	72.0	74.0					14																	105477720		2203	4300	6503	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.547G>C	14.37:g.105477720C>G	ENSP00000337226:p.Asp183His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TB18|Q9NWK7	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.D183H	ENST00000336219.3	37	c.547	CCDS9996.1	14	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835917	0.71373	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.44881	0.91;0.91	4.62	4.62	0.57501	.	0.102629	0.64402	D	0.000004	T	0.61438	0.2347	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	T	0.67440	-0.5670	10	0.87932	D	0	-6.8069	16.8744	0.86047	0.0:1.0:0.0:0.0	.	183	Q9BXL8	CDCA4_HUMAN	H	183	ENSP00000337226:D183H;ENSP00000376369:D183H	ENSP00000337226:D183H	D	-	1	0	CDCA4	104548765	1.000000	0.71417	0.078000	0.20375	0.567000	0.35839	7.347000	0.79356	2.288000	0.76882	0.650000	0.86243	GAC	CDCA4	-	NULL		0.572	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA4	HGNC	protein_coding	OTTHUMT00000410311.1	C	NM_145701		105477720	-1	no_errors	ENST00000336219	ensembl	human	known	70_37	missense	SNP	1.000	G
CDCA4	55038	genome.wustl.edu	37	14	105478048	105478048	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105478048C>T	ENST00000336219.3	-	2	374	c.219G>A	c.(217-219)atG>atA	p.M73I	CDCA4_ENST00000392590.3_Missense_Mutation_p.M73I	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	73	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CATCCTGCGTCATCTCCTCTT	0.637																																																	0													53.0	42.0	46.0					14																	105478048		2203	4300	6503	SO:0001583	missense	55038			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.219G>A	14.37:g.105478048C>T	ENSP00000337226:p.Met73Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TB18|Q9NWK7	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.M73I	ENST00000336219.3	37	c.219	CCDS9996.1	14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315201	0.81358	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.38722	1.12;1.12	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.53834	0.1821	L	0.35341	1.055	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.54748	-0.8247	10	0.46703	T	0.11	-0.3822	16.8941	0.86095	0.0:1.0:0.0:0.0	.	73	Q9BXL8	CDCA4_HUMAN	I	73	ENSP00000337226:M73I;ENSP00000376369:M73I	ENSP00000337226:M73I	M	-	3	0	CDCA4	104549093	1.000000	0.71417	0.996000	0.52242	0.439000	0.31926	7.134000	0.77268	2.292000	0.77174	0.655000	0.94253	ATG	CDCA4	-	pfam_SERTA,pfscan_SERTA		0.637	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA4	HGNC	protein_coding	OTTHUMT00000410311.1	C	NM_145701		105478048	-1	no_errors	ENST00000336219	ensembl	human	known	70_37	missense	SNP	1.000	T
CDH1	999	genome.wustl.edu	37	16	68869294	68869294	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:68869294G>A	ENST00000261769.5	+	0	4732					NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TCTGTGTAGAGAATGTCACTG	0.358			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										SO:0001624	3_prime_UTR_variant	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.*1892G>A	16.37:g.68869294G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	RNA	SNP	-	NULL	ENST00000261769.5	37	NULL	CCDS10869.1	16																																																																																			CDH1	-	-		0.358	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	G	NM_004360		68869294	+1	no_errors	ENST00000563198	ensembl	human	known	70_37	rna	SNP	0.045	A
CDH12	1010	genome.wustl.edu	37	5	22078958	22078958	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:22078958C>T	ENST00000382254.1	-	0	914				CDH12_ENST00000522262.1_5'UTR|CDH12_ENST00000504376.2_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTATTATATTCCATCTAAAGG	0.353										HNSCC(59;0.17)																																							0																																										SO:0001623	5_prime_UTR_variant	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.-173G>A	5.37:g.22078958C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBT1|B7Z2U6|Q86UD2	RNA	SNP	-	NULL	ENST00000382254.1	37	NULL	CCDS3890.1	5																																																																																			CDH12	-	-		0.353	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	C	NM_004061		22078958	-1	no_errors	ENST00000518209	ensembl	human	known	70_37	rna	SNP	1.000	T
CDH15	1013	genome.wustl.edu	37	16	89251681	89251681	+	Silent	SNP	C	C	T	rs150272643		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89251681C>T	ENST00000289746.2	+	5	668	c.603C>T	c.(601-603)ctC>ctT	p.L201L		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	201	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCCCCGAGCTCTTCAGCATCG	0.677																																																	0								C		0,4386		0,0,2193	49.0	44.0	45.0		603	-0.6	1.0	16	dbSNP_134	45	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	CDH15	NM_004933.2		0,1,6489	TT,TC,CC		0.0116,0.0,0.0077		201/815	89251681	1,12979	2193	4297	6490	SO:0001819	synonymous_variant	1013			D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.603C>T	16.37:g.89251681C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L201	ENST00000289746.2	37	c.603	CCDS10976.1	16																																																																																			CDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH15	HGNC	protein_coding	OTTHUMT00000269920.1	C	NM_004933		89251681	+1	no_errors	ENST00000289746	ensembl	human	known	70_37	silent	SNP	0.999	T
CDH19	28513	genome.wustl.edu	37	18	64172444	64172444	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:64172444C>T	ENST00000262150.2	-	12	2216	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCTTCATCATCATATTGGAAT	0.393																																																	0													150.0	153.0	152.0					18																	64172444		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1924G>A	18.37:g.64172444C>T	ENSP00000262150:p.Asp642Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D642N	ENST00000262150.2	37	c.1924	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	c	5.107	0.205421	0.09704	.	.	ENSG00000071991	ENST00000262150	T	0.77620	-1.11	5.18	3.32	0.38043	Cadherin, cytoplasmic domain (1);	0.335977	0.32819	N	0.005601	T	0.70482	0.3229	L	0.49455	1.56	0.80722	D	1	B	0.20052	0.041	B	0.26310	0.068	T	0.61559	-0.7038	10	0.24483	T	0.36	.	10.5878	0.45292	0.0:0.8358:0.0:0.1642	.	642	Q9H159	CAD19_HUMAN	N	642	ENSP00000262150:D642N	ENSP00000262150:D642N	D	-	1	0	CDH19	62323424	1.000000	0.71417	0.078000	0.20375	0.247000	0.25773	1.749000	0.38319	0.619000	0.30197	0.650000	0.86243	GAT	CDH19	-	pfam_Cadherin_cytoplasmic-dom		0.393	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	C	NM_021153		64172444	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	missense	SNP	0.985	T
CDH23	64072	genome.wustl.edu	37	10	73455216	73455218	+	In_Frame_Del	DEL	GTG	GTG	-	rs367797304		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	GTG	GTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:73455216_73455218delGTG	ENST00000224721.6	+	21	2351_2353	c.2346_2348delGTG	c.(2344-2349)acgtgg>acg	p.W783del	CDH23_ENST00000299366.7_In_Frame_Del_p.W823del	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	778	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCACCCCACGTGGAAGGACGCA	0.601																																																	0																																										SO:0001651	inframe_deletion	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2346_2348delGTG	10.37:g.73455216_73455218delGTG	ENSP00000224721:p.Trp783del	Somatic		WXS	Illumina HiSeq	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	In_Frame_Del	DEL	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.W781in_frame_del	ENST00000224721.6	37	c.2340_2342		10																																																																																			CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin		0.601	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	GTG	NM_052836		73455218	+1	no_errors	ENST00000224721	ensembl	human	known	70_37	in_frame_del	DEL	0.868:1.000:1.000	-
CDK8	1024	genome.wustl.edu	37	13	26978201	26978201	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:26978201C>G	ENST00000381527.3	+	13	1881	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	460					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTACTCACATCAGACACATCG	0.572																																																	0													179.0	136.0	151.0					13																	26978201		2203	4300	6503	SO:0001583	missense	1024			X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1378C>G	13.37:g.26978201C>G	ENSP00000370938:p.Gln460Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUF3|Q6ISB5	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.Q460E	ENST00000381527.3	37	c.1378	CCDS9317.1	13	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933561	0.73442	.	.	ENSG00000132964	ENST00000381527	T	0.69175	-0.38	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.79046	0.4380	L	0.51422	1.61	0.80722	D	1	D;D	0.58268	0.982;0.975	D;D	0.70227	0.968;0.953	T	0.79940	-0.1591	10	0.72032	D	0.01	-10.2173	19.4585	0.94906	0.0:1.0:0.0:0.0	.	459;460	P49336-2;P49336	.;CDK8_HUMAN	E	460	ENSP00000370938:Q460E	ENSP00000370938:Q460E	Q	+	1	0	CDK8	25876201	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.605000	0.88082	0.591000	0.81541	CAG	CDK8	-	NULL		0.572	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK8	HGNC	protein_coding	OTTHUMT00000044250.1	C			26978201	+1	no_errors	ENST00000381527	ensembl	human	known	70_37	missense	SNP	1.000	G
CDKL3	51265	genome.wustl.edu	37	5	133644410	133644410	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:133644410G>A	ENST00000265334.4	-	8	1008	c.890C>T	c.(889-891)cCa>cTa	p.P297L	CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_Missense_Mutation_p.P2L|CDKL3_ENST00000521118.1_Missense_Mutation_p.P297L|CDKL3_ENST00000523832.1_Missense_Mutation_p.P297L|CDKL3_ENST00000523054.1_Missense_Mutation_p.P108L|CDKL3_ENST00000536186.1_Missense_Mutation_p.P2L|CDKL3_ENST00000435211.1_Missense_Mutation_p.P297L|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000609654.1_Missense_Mutation_p.P108L|CDKL3_ENST00000435240.2_Missense_Mutation_p.P2L	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	297					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTCAGTTCTGGCATGAATCT	0.299																																																	0													36.0	34.0	35.0					5																	133644410		1828	4076	5904	SO:0001583	missense	51265			AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.890C>T	5.37:g.133644410G>A	ENSP00000265334:p.Pro297Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQA0|D3DQA1|Q9P114	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.P297L	ENST00000265334.4	37	c.890	CCDS47264.1	5	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517580	0.64634	.	.	ENSG00000006837	ENST00000536186;ENST00000435240;ENST00000265334;ENST00000523054;ENST00000521118;ENST00000523832;ENST00000435211	T;T;T;T;T;T;T	0.74421	-0.38;-0.48;-0.78;-0.56;-0.84;-0.79;-0.79	5.66	5.66	0.87406	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000006	T	0.80701	0.4673	L	0.32530	0.975	0.51233	D	0.999917	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.997	D;D;D;D;P	0.91635	0.988;0.999;0.999;0.996;0.895	T	0.81780	-0.0776	10	0.62326	D	0.03	-23.4491	16.6591	0.85236	0.0:0.0:1.0:0.0	.	108;2;2;108;297	B4DX41;B4DRK6;B4DGS2;B7Z2C5;Q8IVW4	.;.;.;.;CDKL3_HUMAN	L	2;2;297;108;297;297;297	ENSP00000441545:P2L;ENSP00000399807:P2L;ENSP00000265334:P297L;ENSP00000428500:P108L;ENSP00000428689:P297L;ENSP00000430496:P297L;ENSP00000395559:P297L	ENSP00000265334:P297L	P	-	2	0	CDKL3	133672309	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	3.545000	0.53648	2.676000	0.91093	0.555000	0.69702	CCA	CDKL3	-	superfamily_Kinase-like_dom		0.299	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDKL3	HGNC	protein_coding	OTTHUMT00000377697.1	G	NM_001113575		133644410	-1	no_errors	ENST00000265334	ensembl	human	known	70_37	missense	SNP	1.000	A
CDKL5	6792	genome.wustl.edu	37	X	18622091	18622091	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:18622091G>A	ENST00000379989.3	+	13	1332	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	CDKL5_ENST00000379996.3_Silent_p.L349L|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	349					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCCAGAACCTGAGTGTAGGCC	0.468																																																	0													145.0	148.0	147.0					X																	18622091		2203	4300	6503	SO:0001819	synonymous_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1047G>A	X.37:g.18622091G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	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.L349	ENST00000379989.3	37	c.1047	CCDS14186.1	X																																																																																			CDKL5	-	NULL		0.468	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKL5	HGNC	protein_coding	OTTHUMT00000055945.2	G	NM_003159		18622091	+1	no_errors	ENST00000379989	ensembl	human	known	70_37	silent	SNP	0.990	A
CDRT1	374286	genome.wustl.edu	37	17	15519028	15519028	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:15519028G>C	ENST00000395906.3	-	2	600	c.601C>G	c.(601-603)Cag>Gag	p.Q201E	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.Q511E	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	201										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GATGTGTGCTGAGTTTTGGCT	0.468																																																	0													60.0	63.0	62.0					17																	15519028		2202	4297	6499	SO:0001583	missense	374286			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.601C>G	17.37:g.15519028G>C	ENSP00000379242:p.Gln201Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43848|O95611	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q201E	ENST00000395906.3	37	c.601	CCDS45619.1	17	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156402	0.09236	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.24151	1.87	3.68	1.41	0.22369	.	.	.	.	.	T	0.10337	0.0253	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.019;0.017	B;B	0.12156	0.006;0.007	T	0.37407	-0.9707	9	0.02654	T	1	.	4.1677	0.10315	0.0:0.1265:0.2963:0.5772	.	201;525	O95170;Q59EB2	CDRT1_HUMAN;.	E	201	ENSP00000379242:Q201E	ENSP00000261644:Q201E	Q	-	1	0	RP11-385D13.1	15459753	0.002000	0.14202	0.002000	0.10522	0.026000	0.11368	0.174000	0.16743	0.290000	0.22444	0.555000	0.69702	CAG	CDRT1	-	NULL		0.468	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT1	HGNC	protein_coding	OTTHUMT00000448127.1	G	NM_006382		15519028	-1	no_errors	ENST00000395906	ensembl	human	known	70_37	missense	SNP	0.002	C
CEACAM5	1048	genome.wustl.edu	37	19	42221434	42221434	+	Missense_Mutation	SNP	C	C	T	rs10407503	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:42221434C>T	ENST00000221992.6	+	5	1133	c.1019C>T	c.(1018-1020)gCt>gTt	p.A340V	CEACAM5_ENST00000398599.4_Missense_Mutation_p.A339V|CEACAM5_ENST00000405816.1_Missense_Mutation_p.A340V|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	340	Ig-like 4.		A -> D (in dbSNP:rs10407503).		homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GATGAGGATGCTGTAGCCTTA	0.532																																																	0													161.0	157.0	158.0					19																	42221434		2203	4300	6503	SO:0001583	missense	1048			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1019C>T	19.37:g.42221434C>T	ENSP00000221992:p.Ala340Val	Somatic		WXS	Illumina HiSeq	Phase_IV	H9KVA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A340V	ENST00000221992.6	37	c.1019	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	C	4.379	0.069841	0.08436	.	.	ENSG00000105388	ENST00000221992;ENST00000405816	T;T	0.42513	0.97;0.97	2.77	0.373	0.16178	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36552	0.0971	L	0.39898	1.24	0.80722	P	0.0	B;B	0.27498	0.18;0.132	B;B	0.43386	0.292;0.418	T	0.48885	-0.8995	8	0.23302	T	0.38	.	2.5457	0.04736	0.2933:0.5339:0.0:0.1728	.	340;340	P06731;Q53G30	CEAM5_HUMAN;.	V	340	ENSP00000221992:A340V;ENSP00000385072:A340V	ENSP00000221992:A340V	A	+	2	0	CEACAM5	46913274	0.002000	0.14202	0.001000	0.08648	0.013000	0.08279	0.724000	0.25954	0.378000	0.24764	0.479000	0.44913	GCT	CEACAM5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	C	NM_004363		42221434	+1	no_errors	ENST00000221992	ensembl	human	known	70_37	missense	SNP	0.001	T
CEACAM1	634	genome.wustl.edu	37	19	43016551	43016551	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:43016551G>A	ENST00000161559.6	-	6	1461	c.1327C>T	c.(1327-1329)Ctg>Ttg	p.L443L	CEACAM1_ENST00000599389.1_Silent_p.L378L|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Silent_p.L347L|CEACAM1_ENST00000488639.2_5'UTR|CEACAM1_ENST00000403461.1_Silent_p.L347L|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000358394.3_Silent_p.L378L|CEACAM1_ENST00000403444.3_Silent_p.L443L|CEACAM1_ENST00000351134.3_Silent_p.L169L|CEACAM1_ENST00000308072.4_Silent_p.L338L|LIPE-AS1_ENST00000457234.2_RNA	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	443					angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	ACTGCTATCAGAGCAACCAGG	0.512																																																	0													85.0	70.0	75.0					19																	43016551		2203	4300	6503	SO:0001819	synonymous_variant	634			M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1327C>T	19.37:g.43016551G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L443	ENST00000161559.6	37	c.1327	CCDS12609.1	19																																																																																			CEACAM1	-	NULL		0.512	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM1	HGNC	protein_coding	OTTHUMT00000321190.2	G	NM_001712		43016551	-1	no_errors	ENST00000161559	ensembl	human	known	70_37	silent	SNP	0.001	A
CELA3A	10136	genome.wustl.edu	37	1	22333386	22333386	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:22333386C>T	ENST00000290122.3	+	5	397	c.378C>T	c.(376-378)ctC>ctT	p.L126L		NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	126	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACATCGCCCTCATCAAGCTCT	0.622																																																	0													87.0	79.0	82.0					1																	22333386		2199	4300	6499	SO:0001819	synonymous_variant	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.378C>T	1.37:g.22333386C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ53|Q9BRW4	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L126	ENST00000290122.3	37	c.378	CCDS220.1	1																																																																																			CELA3A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3A	HGNC	protein_coding	OTTHUMT00000007791.1	C	NM_005747		22333386	+1	no_errors	ENST00000290122	ensembl	human	known	70_37	silent	SNP	0.010	T
CELSR2	1952	genome.wustl.edu	37	1	109793090	109793090	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:109793090C>T	ENST00000271332.3	+	1	450	c.389C>T	c.(388-390)aCa>aTa	p.T130I		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	130					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCAAGCTCACACTGCCCGAG	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)												0													59.0	63.0	62.0					1																	109793090		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.389C>T	1.37:g.109793090C>T	ENSP00000271332:p.Thr130Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T130I	ENST00000271332.3	37	c.389	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	11.67	1.709012	0.30322	.	.	ENSG00000143126	ENST00000271332	T	0.68765	-0.35	5.49	4.58	0.56647	.	.	.	.	.	T	0.21718	0.0523	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14868	-1.0457	9	0.15952	T	0.53	.	9.3872	0.38349	0.0:0.7793:0.1445:0.0762	.	130	Q9HCU4	CELR2_HUMAN	I	130	ENSP00000271332:T130I	ENSP00000271332:T130I	T	+	2	0	CELSR2	109594613	0.001000	0.12720	0.988000	0.46212	0.661000	0.39034	1.590000	0.36654	1.332000	0.45431	0.555000	0.69702	ACA	CELSR2	-	NULL		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109793090	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.183	T
CELSR3	1951	genome.wustl.edu	37	3	48681729	48681729	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48681729C>G	ENST00000164024.4	-	27	8366		c.e27-1		CELSR3_ENST00000544264.1_Splice_Site|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCGTTCATCTGGACCCACG	0.602																																																	0													54.0	50.0	51.0					3																	48681729		2202	4300	6502	SO:0001630	splice_region_variant	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8086-1G>C	3.37:g.48681729C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75092	Splice_Site	SNP	-	e28-1	ENST00000164024.4	37	c.8101-1	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	c	17.83	3.484861	0.63962	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8781	0.63665	0.0:0.9239:0.0:0.0761	.	.	.	.	.	-1	.	.	.	-	.	.	CELSR3	48656733	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.396000	0.66297	2.382000	0.81193	0.556000	0.70494	.	CELSR3	-	-		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407	Intron	48681729	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	splice_site	SNP	1.000	G
CEP170	9859	genome.wustl.edu	37	1	243354474	243354474	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:243354474G>C	ENST00000366542.1	-	8	1005	c.954C>G	c.(952-954)gaC>gaG	p.D318E	CEP170_ENST00000366544.1_Missense_Mutation_p.D318E|CEP170_ENST00000366543.1_Missense_Mutation_p.D318E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	318						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCCCCAGCAAGTCTTGAGTTC	0.458																																																	0													53.0	48.0	49.0					1																	243354474		1831	4075	5906	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.954C>G	1.37:g.243354474G>C	ENSP00000355500:p.Asp318Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.D318E	ENST00000366542.1	37	c.954	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.41|18.41	3.618454|3.618454	0.66787|0.66787	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.46819|.	0.86;0.9;0.9|.	4.91|4.91	3.98|3.98	0.46160|0.46160	.|.	0.051328|.	0.85682|.	D|.	0.000000|.	T|T	0.51907|0.51907	0.1702|0.1702	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	P;B;P|.	0.46220|.	0.645;0.355;0.874|.	P;P;P|.	0.53722|.	0.733;0.479;0.493|.	T|T	0.45041|0.45041	-0.9288|-0.9288	10|5	0.29301|.	T|.	0.29|.	-11.5487|-11.5487	8.6529|8.6529	0.34046|0.34046	0.2295:0.0:0.7705:0.0|0.2295:0.0:0.7705:0.0	.|.	318;318;318|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	E|S	318;318;318;216|220	ENSP00000355500:D318E;ENSP00000355502:D318E;ENSP00000355501:D318E|.	ENSP00000355500:D318E|.	D|T	-|-	3|2	2|0	CEP170|CEP170	241421097|241421097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.306000|1.306000	0.33505|0.33505	2.282000|2.282000	0.76494|0.76494	0.455000|0.455000	0.32223|0.32223	GAC|ACT	CEP170	-	NULL		0.458	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243354474	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	C
CEP192	55125	genome.wustl.edu	37	18	13072797	13072797	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:13072797C>G	ENST00000325971.8	+	27	5197	c.3604C>G	c.(3604-3606)Caa>Gaa	p.Q1202E	CEP192_ENST00000430049.2_Missense_Mutation_p.Q1323E|CEP192_ENST00000506447.1_Missense_Mutation_p.Q1798E			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1202					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCTACAACTCAACATTTACG	0.363																																																	0													127.0	118.0	121.0					18																	13072797		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3604C>G	18.37:g.13072797C>G	ENSP00000317156:p.Gln1202Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	NULL	p.Q1798E	ENST00000325971.8	37	c.5392		18	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485192	0.63962	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.48522	0.81;0.81;0.81	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.71581	2.175	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.83275	0.996;0.982;0.994	T	0.70608	-0.4825	10	0.66056	D	0.02	-17.5626	19.8356	0.96657	0.0:1.0:0.0:0.0	.	1323;1798;400	C9JT09;E9PF99;Q9HCK3	.;.;.	E	1798;1202;1202;1323	ENSP00000427550:Q1798E;ENSP00000317156:Q1202E;ENSP00000389190:Q1323E	ENSP00000317156:Q1202E	Q	+	1	0	CEP192	13062797	1.000000	0.71417	0.701000	0.30321	0.043000	0.13939	7.370000	0.79589	2.857000	0.98124	0.650000	0.86243	CAA	CEP192	-	NULL		0.363	CEP192-201	KNOWN	basic	protein_coding	CEP192	HGNC	protein_coding		C	NM_032142		13072797	+1	no_errors	ENST00000506447	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP250	11190	genome.wustl.edu	37	20	34090757	34090757	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:34090757G>A	ENST00000397527.1	+	30	5280	c.4560G>A	c.(4558-4560)caG>caA	p.Q1520Q	CEP250_ENST00000342580.4_Silent_p.Q1464Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1520	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGGAGACTCAGAGGAACGTCT	0.512																																																	0													62.0	67.0	65.0					20																	34090757		2203	4300	6503	SO:0001819	synonymous_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.4560G>A	20.37:g.34090757G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.Q1520	ENST00000397527.1	37	c.4560	CCDS13255.1	20																																																																																			CEP250	-	NULL		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	G	NM_007186		34090757	+1	no_errors	ENST00000397527	ensembl	human	known	70_37	silent	SNP	1.000	A
CEP41	95681	genome.wustl.edu	37	7	130040635	130040635	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:130040635G>C	ENST00000223208.5	-	9	940	c.670C>G	c.(670-672)Ctg>Gtg	p.L224V	CEP41_ENST00000343969.5_Missense_Mutation_p.L224V|CEP41_ENST00000541543.1_Missense_Mutation_p.L208V	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	224	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein polyglutamylation (GO:0018095)|protein transport (GO:0015031)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|primary cilium (GO:0072372)											TCGTCATACAGAATGATGATC	0.502																																																	0													65.0	55.0	58.0					7																	130040635		2203	4300	6503	SO:0001583	missense	95681			AJ278890	CCDS5821.1, CCDS59078.1, CCDS59079.1, CCDS59080.1	7q32	2014-02-20	2011-10-04	2011-10-04	ENSG00000106477	ENSG00000106477			12370	protein-coding gene	gene with protein product		610523	"""testis specific, 14"""	TSGA14		14654843, 22246503	Standard	NM_018718		Approved	DKFZp762H1311, FLJ22445, JBTS15	uc003vpz.4	Q9BYV8	OTTHUMG00000157823	ENST00000223208.5:c.670C>G	7.37:g.130040635G>C	ENSP00000223208:p.Leu224Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1M0|B4DQ35|F5H0V6|Q7Z496|Q86TM1|Q8NFU8|Q9H6A3|Q9NPV3	Missense_Mutation	SNP	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.L224V	ENST00000223208.5	37	c.670	CCDS5821.1	7	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875240	0.33162	.	.	ENSG00000106477	ENST00000223208;ENST00000541543;ENST00000343969;ENST00000492389	T;T;T;T	0.38887	1.11;2.04;2.04;2.04	6.03	5.14	0.70334	Rhodanese-like (5);	0.158413	0.44902	D	0.000420	T	0.24122	0.0584	N	0.11000	0.08	0.46317	D	0.998985	B;B;B	0.33022	0.394;0.086;0.04	B;B;B	0.32465	0.146;0.079;0.078	T	0.08597	-1.0714	10	0.18276	T	0.48	-10.1059	13.1624	0.59552	0.0779:0.0:0.9221:0.0	.	208;224;224	F5H0V6;Q9BYV8-2;Q9BYV8	.;.;CEP41_HUMAN	V	224;208;224;189	ENSP00000223208:L224V;ENSP00000445888:L208V;ENSP00000342738:L224V;ENSP00000419192:L189V	ENSP00000223208:L224V	L	-	1	2	TSGA14	129827871	0.634000	0.27190	0.725000	0.30721	0.993000	0.82548	0.585000	0.23879	1.523000	0.49018	0.655000	0.94253	CTG	CEP41	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom		0.502	CEP41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP41	HGNC	protein_coding	OTTHUMT00000349702.2	G	NM_018718		130040635	-1	no_errors	ENST00000223208	ensembl	human	known	70_37	missense	SNP	0.958	C
CEP57	9702	genome.wustl.edu	37	11	95564411	95564411	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:95564411G>C	ENST00000325542.5	+	11	1732	c.1494G>C	c.(1492-1494)tgG>tgC	p.W498C	CEP57_ENST00000537677.1_Missense_Mutation_p.W471C|CEP57_ENST00000541150.1_Missense_Mutation_p.W489C|CEP57_ENST00000325486.5_Missense_Mutation_p.W472C	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	498					fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTTGTGTTGGGATTACTGAC	0.348									Mosaic Variegated Aneuploidy Syndrome																																								0													38.0	39.0	39.0					11																	95564411		2201	4296	6497	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1494G>C	11.37:g.95564411G>C	ENSP00000317902:p.Trp498Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.W498C	ENST00000325542.5	37	c.1494	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467708	0.63625	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.75050	-0.54;-0.67;-0.9;-0.66	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000002	D	0.85478	0.5706	M	0.61703	1.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	D	0.86390	0.1735	10	0.87932	D	0	-9.375	19.4517	0.94871	0.0:0.0:1.0:0.0	.	489;472;498	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	C	471;498;472;489	ENSP00000441392:W471C;ENSP00000317902:W498C;ENSP00000317487:W472C;ENSP00000443436:W489C	ENSP00000317487:W472C	W	+	3	0	CEP57	95204059	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.842000	0.75379	2.583000	0.87209	0.557000	0.71058	TGG	CEP57	-	NULL		0.348	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	G	NM_014679		95564411	+1	no_errors	ENST00000325542	ensembl	human	known	70_37	missense	SNP	1.000	C
CEP72	55722	genome.wustl.edu	37	5	633995	633995	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:633995C>T	ENST00000264935.5	+	5	714	c.624C>T	c.(622-624)ctC>ctT	p.L208L	CEP72_ENST00000444221.1_Intron	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	208					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGTGGGACCTCGGCAGGCCTC	0.647																																																	0													83.0	87.0	85.0					5																	633995		2203	4300	6503	SO:0001819	synonymous_variant	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.624C>T	5.37:g.633995C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.L208	ENST00000264935.5	37	c.624	CCDS34126.1	5																																																																																			CEP72	-	NULL		0.647	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	C	NM_018140		633995	+1	no_errors	ENST00000264935	ensembl	human	known	70_37	silent	SNP	0.949	T
CEP72	55722	genome.wustl.edu	37	5	635651	635651	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:635651G>C	ENST00000264935.5	+	6	946	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	286					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGCGGAGCCAGAGGCCTCCCG	0.592																																																	0													63.0	66.0	65.0					5																	635651		2203	4300	6503	SO:0001583	missense	55722			BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.856G>C	5.37:g.635651G>C	ENSP00000264935:p.Glu286Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C	p.E286Q	ENST00000264935.5	37	c.856	CCDS34126.1	5	.	.	.	.	.	.	.	.	.	.	G	6.400	0.441908	0.12164	.	.	ENSG00000112877	ENST00000264935	T	0.10573	2.86	3.72	0.796	0.18648	.	1.528680	0.03837	N	0.269931	T	0.06462	0.0166	N	0.08118	0	0.09310	N	0.999999	B	0.17465	0.022	B	0.16289	0.015	T	0.36768	-0.9734	10	0.56958	D	0.05	-1.2447	4.9466	0.13993	0.2145:0.1944:0.5911:0.0	.	286	Q9P209	CEP72_HUMAN	Q	286	ENSP00000264935:E286Q	ENSP00000264935:E286Q	E	+	1	0	CEP72	688651	0.251000	0.23961	0.003000	0.11579	0.009000	0.06853	1.081000	0.30791	0.013000	0.14918	-0.251000	0.11542	GAG	CEP72	-	NULL		0.592	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP72	HGNC	protein_coding	OTTHUMT00000365967.3	G	NM_018140		635651	+1	no_errors	ENST00000264935	ensembl	human	known	70_37	missense	SNP	0.042	C
CEP89	84902	genome.wustl.edu	37	19	33417123	33417123	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:33417123C>G	ENST00000305768.5	-	11	1225	c.1137G>C	c.(1135-1137)gaG>gaC	p.E379D		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	379					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCTCGTCCTTCTCTTTCATCA	0.363																																																	0													214.0	212.0	213.0					19																	33417123		2203	4300	6503	SO:0001583	missense	84902			AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.1137G>C	19.37:g.33417123C>G	ENSP00000306105:p.Glu379Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGA6|Q8N5J8	Missense_Mutation	SNP	NULL	p.E379D	ENST00000305768.5	37	c.1137	CCDS32987.1	19	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190940	0.58017	.	.	ENSG00000121289	ENST00000305768	T	0.59638	0.25	5.11	-0.193	0.13244	.	0.048793	0.85682	D	0.000000	T	0.65312	0.2679	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	T	0.62034	-0.6939	10	0.49607	T	0.09	-19.2096	7.138	0.25539	0.0:0.4335:0.0:0.5665	.	132;379	Q96ST8-2;Q96ST8	.;CEP89_HUMAN	D	379	ENSP00000306105:E379D	ENSP00000306105:E379D	E	-	3	2	CEP89	38108963	1.000000	0.71417	0.989000	0.46669	0.628000	0.37860	0.961000	0.29267	0.241000	0.21283	0.555000	0.69702	GAG	CEP89	-	NULL		0.363	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP89	HGNC	protein_coding	OTTHUMT00000451300.2	C	NM_032816		33417123	-1	no_errors	ENST00000305768	ensembl	human	known	70_37	missense	SNP	1.000	G
CEP95	90799	genome.wustl.edu	37	17	62506320	62506320	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:62506320G>C	ENST00000556440.2	+	3	688	c.178G>C	c.(178-180)Gat>Cat	p.D60H	CEP95_ENST00000553412.1_5'UTR|CEP95_ENST00000581056.1_Missense_Mutation_p.D60H	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	60						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAGTCAAGAAGATGATGCACA	0.403																																																	0													111.0	101.0	104.0					17																	62506320		1908	4160	6068	SO:0001583	missense	90799			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.178G>C	17.37:g.62506320G>C	ENSP00000450461:p.Asp60His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMD2|Q96M81	Missense_Mutation	SNP	superfamily_CH-domain	p.D60H	ENST00000556440.2	37	c.178	CCDS45763.1	17	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751917	0.49362	.	.	ENSG00000258890	ENST00000553956;ENST00000556440	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	.	0.096084	0.64402	D	0.000001	T	0.58864	0.2152	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.61242	-0.7102	10	0.72032	D	0.01	-20.165	13.2273	0.59922	0.0725:0.0:0.9275:0.0	.	60	Q96GE4	CEP95_HUMAN	H	60	ENSP00000452317:D60H;ENSP00000450461:D60H	ENSP00000438458:D60H	D	+	1	0	CEP95	59936782	1.000000	0.71417	0.902000	0.35471	0.001000	0.01503	5.621000	0.67743	2.744000	0.94065	0.561000	0.74099	GAT	CEP95	-	superfamily_CH-domain		0.403	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP95	HGNC	protein_coding	OTTHUMT00000445100.2	G	NM_138363		62506320	+1	no_errors	ENST00000556440	ensembl	human	known	70_37	missense	SNP	0.995	C
CEPT1	10390	genome.wustl.edu	37	1	111727358	111727358	+	3'UTR	SNP	G	G	A	rs546551835		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:111727358G>A	ENST00000545121.1	+	0	1885				RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000467362.1_3'UTR|CEPT1_ENST00000357172.4_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CTTTACTGAGGAATTCAGCTT	0.343													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16085	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	10390			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.*426G>A	1.37:g.111727358G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YJ9|Q9P0Y8	RNA	SNP	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			CEPT1	-	-		0.343	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	G	NM_006090		111727358	+1	no_errors	ENST00000467362	ensembl	human	known	70_37	rna	SNP	0.998	A
CFHR3	10878	genome.wustl.edu	37	1	196748399	196748399	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:196748399G>A	ENST00000367425.4	+	2	258	c.166G>A	c.(166-168)Gat>Aat	p.D56N	CFHR3_ENST00000471440.2_Missense_Mutation_p.D56N|CFHR3_ENST00000391985.3_Missense_Mutation_p.D56N	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	56	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						CTATTACTGTGATGAACATTT	0.388																																																	0													87.0	98.0	94.0					1																	196748399		1919	4138	6057	SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.166G>A	1.37:g.196748399G>A	ENSP00000356395:p.Asp56Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D56N	ENST00000367425.4	37	c.166	CCDS30958.1	1	.	.	.	.	.	.	.	.	.	.	.	10.50	1.367809	0.24771	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.66099	-0.19;-0.19;-0.19	2.86	-3.82	0.04281	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.56217	0.1970	L	0.31578	0.945	0.09310	N	1	P;D;P	0.61080	0.892;0.989;0.489	P;D;B	0.65874	0.62;0.939;0.302	T	0.47649	-0.9101	9	0.39692	T	0.17	.	0.5753	0.00702	0.3717:0.1742:0.2779:0.1762	.	56;56;56	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	N	56	ENSP00000356395:D56N;ENSP00000436258:D56N;ENSP00000375845:D56N	ENSP00000356395:D56N	D	+	1	0	CFHR3	195015022	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-3.117000	0.00597	-0.699000	0.05077	0.184000	0.17185	GAT	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.388	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	G	NM_021023		196748399	+1	no_errors	ENST00000367425	ensembl	human	known	70_37	missense	SNP	0.002	A
KHK	3795	genome.wustl.edu	37	2	27322670	27322670	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27322670C>T	ENST00000260599.6	+	0	1462				KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000452318.2_Silent_p.A107A|CGREF1_ENST00000402550.1_Silent_p.A127A|KHK_ENST00000260598.5_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGCTGCATCGCCTTCTCCC	0.622																																																	0													84.0	90.0	88.0					2																	27322670		1327	2309	3636	SO:0001624	3_prime_UTR_variant	10669				CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.*52C>T	2.37:g.27322670C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Silent	SNP	NULL	p.A107	ENST00000260599.6	37	c.321	CCDS1734.1	2																																																																																			CGREF1	-	NULL		0.622	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CGREF1	HGNC	protein_coding	OTTHUMT00000214196.1	C			27322670	-1	no_errors	ENST00000452318	ensembl	human	known	70_37	silent	SNP	0.000	T
CHADL	150356	genome.wustl.edu	37	22	41634769	41634769	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:41634769C>T	ENST00000216241.9	-	3	359	c.307G>A	c.(307-309)Gag>Aag	p.E103K		NM_138481.1	NP_612490.1	Q6NUI6	CHADL_HUMAN	chondroadherin-like	103						proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(1)|skin(1)	4						AAGGCGCCCTCGGCCACCAGC	0.697																																																	0													8.0	14.0	12.0					22																	41634769		686	1578	2264	SO:0001583	missense	150356			BC012882	CCDS46715.1	22q13.2	2008-10-31			ENSG00000100399	ENSG00000100399			25165	protein-coding gene	gene with protein product						12477932	Standard	NM_138481		Approved	SLRR4B	uc003azq.4	Q6NUI6	OTTHUMG00000150936	ENST00000216241.9:c.307G>A	22.37:g.41634769C>T	ENSP00000216241:p.Glu103Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05CY2|Q4G0S0|Q5JY13|Q86XY1|Q96E60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.E103K	ENST00000216241.9	37	c.307	CCDS46715.1	22	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862903	0.91511	.	.	ENSG00000100399	ENST00000216241	T	0.04454	3.62	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.12475	0.0303	L	0.31578	0.945	0.42852	D	0.99408	D;D	0.71674	0.998;0.991	D;P	0.67231	0.95;0.781	T	0.20806	-1.0264	10	0.34782	T	0.22	.	18.0581	0.89369	0.0:1.0:0.0:0.0	.	103;103	Q6NUI6-2;Q6NUI6	.;CHADL_HUMAN	K	103	ENSP00000216241:E103K	ENSP00000216241:E103K	E	-	1	0	CHADL	39964715	1.000000	0.71417	0.997000	0.53966	0.825000	0.46686	7.611000	0.82962	2.270000	0.75569	0.462000	0.41574	GAG	CHADL	-	smart_Leu-rich_rpt_typical-subtyp		0.697	CHADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHADL	HGNC	protein_coding	OTTHUMT00000320597.1	C	NM_138481		41634769	-1	no_errors	ENST00000216241	ensembl	human	known	70_37	missense	SNP	1.000	T
CHD1	1105	genome.wustl.edu	37	5	98204255	98204255	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:98204255C>T	ENST00000284049.3	-	30	4341	c.4192G>A	c.(4192-4194)Gaa>Aaa	p.E1398K	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1398					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GGAACTGGTTCACCACTTGCC	0.383																																																	0													129.0	130.0	130.0					5																	98204255		2203	4300	6503	SO:0001583	missense	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.4192G>A	5.37:g.98204255C>T	ENSP00000284049:p.Glu1398Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1398K	ENST00000284049.3	37	c.4192	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268793	0.80469	.	.	ENSG00000153922	ENST00000284049	D	0.90788	-2.73	5.32	5.32	0.75619	.	0.000000	0.34156	U	0.004217	D	0.88407	0.6428	M	0.62723	1.935	0.80722	D	1	P	0.37781	0.608	B	0.29862	0.108	D	0.87554	0.2467	10	0.34782	T	0.22	.	19.3709	0.94484	0.0:1.0:0.0:0.0	.	1398	O14646	CHD1_HUMAN	K	1398	ENSP00000284049:E1398K	ENSP00000284049:E1398K	E	-	1	0	CHD1	98232155	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.419000	0.80179	2.671000	0.90904	0.655000	0.94253	GAA	CHD1	-	NULL		0.383	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	C	NM_001270		98204255	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	missense	SNP	1.000	T
CHD2	1106	genome.wustl.edu	37	15	93485094	93485094	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:93485094C>T	ENST00000394196.4	+	8	1803	c.735C>T	c.(733-735)ctC>ctT	p.L245L	CHD2_ENST00000420239.2_Silent_p.L245L|CHD2_ENST00000557381.1_Silent_p.L245L|CHD2_ENST00000536619.1_Silent_p.L258L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	245					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGATGATCTCATTGAAATGA	0.358																																																	0													88.0	85.0	86.0					15																	93485094		2197	4298	6495	SO:0001819	synonymous_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.735C>T	15.37:g.93485094C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C6G482|Q96IP5	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L245	ENST00000394196.4	37	c.735	CCDS10374.2	15																																																																																			CHD2	-	NULL		0.358	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CHD2	HGNC	protein_coding	OTTHUMT00000313528.3	C	NM_001271		93485094	+1	no_errors	ENST00000420239	ensembl	human	known	70_37	silent	SNP	1.000	T
CHD3	1107	genome.wustl.edu	37	17	7802461	7802461	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7802461G>A	ENST00000330494.7	+	14	2434	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	CHD3_ENST00000380358.4_Missense_Mutation_p.E821K|CHD3_ENST00000358181.4_Missense_Mutation_p.E762K	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	762	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTAGCTGATGAGATGGGGCT	0.552																																																	0													138.0	129.0	132.0					17																	7802461		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2284G>A	17.37:g.7802461G>A	ENSP00000332628:p.Glu762Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E762K	ENST00000330494.7	37	c.2284	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011141	0.75046	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.95690	-3.78;-3.78;-3.78	5.47	5.47	0.80525	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.46758	D	0.000280	D	0.98485	0.9495	H	0.94542	3.55	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.81914	0.987;0.992;0.995	D	0.99201	1.0873	10	0.87932	D	0	-30.9039	19.6995	0.96047	0.0:0.0:1.0:0.0	.	762;762;821	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	K	821;762;762	ENSP00000369716:E821K;ENSP00000350907:E762K;ENSP00000332628:E762K	ENSP00000332628:E762K	E	+	1	0	CHD3	7743186	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.790000	0.99075	2.744000	0.94065	0.561000	0.74099	GAG	CHD3	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.552	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7802461	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A
CHD4	1108	genome.wustl.edu	37	12	6692280	6692280	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:6692280C>G	ENST00000357008.2	-	27	4224		c.e27-1		CHD4_ENST00000309577.6_Missense_Mutation_p.D1382H|CHD4_ENST00000540960.1_Splice_Site|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Missense_Mutation_p.D1379H|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCTGCCAATCTGGAGGGAGA	0.617																																					Colon(32;586 792 4568 16848 45314)												0													84.0	84.0	84.0					12																	6692280		2203	4300	6503	SO:0001630	splice_region_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4061-1G>C	12.37:g.6692280C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXZ5	Splice_Site	SNP	-	e26-1	ENST00000357008.2	37	c.4061-1	CCDS8552.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.36|19.36	3.813181|3.813181	0.70912|0.70912	.|.	.|.	ENSG00000111642|ENSG00000111642	ENST00000544040;ENST00000357008;ENST00000537464|ENST00000544484;ENST00000309577	.|D;D	.|0.90844	.|-2.74;-2.73	5.83|5.83	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.95513	.|0.8542	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|D	.|0.95955	.|0.8957	.|9	.|0.66056	.|D	.|0.02	.|-10.8511	16.3757|16.3757	0.83387|0.83387	0.1328:0.8672:0.0:0.0|0.1328:0.8672:0.0:0.0	.|.	.|1382	.|Q14839-2	.|.	.|H	-1|1379;1382	.|ENSP00000440392:D1379H;ENSP00000312419:D1382H	.|ENSP00000312419:D1382H	.|D	-|-	.|1	.|0	CHD4|CHD4	6562541|6562541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.445000|7.445000	0.80570|0.80570	1.458000|1.458000	0.47871|0.47871	0.563000|0.563000	0.77884|0.77884	.|GAT	CHD4	-	-		0.617	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		C	NM_001273	Intron	6692280	-1	no_errors	ENST00000357008	ensembl	human	known	70_37	splice_site	SNP	1.000	G
CHD6	84181	genome.wustl.edu	37	20	40126000	40126001	+	Intron	INS	-	-	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:40126000_40126001insT	ENST00000373233.3	-	8	1270				CHD6_ENST00000373222.3_3'UTR|CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6						ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGCAGTCAAATGAGTCAGTAA	0.376																																																	0																																										SO:0001627	intron_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1092+22->A	20.37:g.40126001_40126001dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	RNA	INS	-	NULL	ENST00000373233.3	37	NULL	CCDS13317.1	20																																																																																			CHD6	-	-		0.376	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	-			40126001	-1	no_errors	ENST00000470470	ensembl	human	known	70_37	rna	INS	0.001:0.001	T
CHM	1121	genome.wustl.edu	37	X	85117273	85117273	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:85117273C>G	ENST00000357749.2	-	0	4353				CHM_ENST00000467744.2_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)						blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTGGTTATTCTAGGCCTACC	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.*2362G>C	X.37:g.85117273C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4D2|O43732	RNA	SNP	-	NULL	ENST00000357749.2	37	NULL	CCDS14454.1	X																																																																																			CHM	-	-		0.393	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	C	NM_000390		85117273	-1	no_errors	ENST00000467744	ensembl	human	known	70_37	rna	SNP	0.055	G
CHRDL1	91851	genome.wustl.edu	37	X	110002983	110002983	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:110002983C>T	ENST00000372045.1	-	4	321		c.e4-1		CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000218054.4_Splice_Site|CHRDL1_ENST00000482160.1_Splice_Site|CHRDL1_ENST00000434224.1_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site			Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CATTCCCATTCTGAAAAAGAG	0.478																																																	0													114.0	101.0	105.0					X																	110002983		2203	4300	6503	SO:0001630	splice_region_variant	91851			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.190-1G>A	X.37:g.110002983C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Splice_Site	SNP	-	e3-1	ENST00000372045.1	37	c.208-1		X	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545208	0.45280	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5649	0.87917	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHRDL1	109889639	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	5.084000	0.64462	2.618000	0.88619	0.600000	0.82982	.	CHRDL1	-	-		0.478	CHRDL1-001	KNOWN	basic	protein_coding	CHRDL1	HGNC	protein_coding	OTTHUMT00000057912.1	C	NM_145234	Intron	110002983	-1	no_errors	ENST00000372042	ensembl	human	known	70_37	splice_site	SNP	1.000	T
CHRNB3	1142	genome.wustl.edu	37	8	42552739	42552739	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:42552739C>T	ENST00000289957.2	+	1	178	c.50C>T	c.(49-51)tCa>tTa	p.S17L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	17					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ATCCCTTCCTCAGGTAAGCAC	0.378																																																	0													118.0	105.0	109.0					8																	42552739		2203	4300	6503	SO:0001583	missense	1142			U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.50C>T	8.37:g.42552739C>T	ENSP00000289957:p.Ser17Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15827	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S17L	ENST00000289957.2	37	c.50	CCDS6134.1	8	.	.	.	.	.	.	.	.	.	.	c	5.789	0.329954	0.10956	.	.	ENSG00000147432	ENST00000289957	T	0.75704	-0.96	5.53	5.53	0.82687	.	2.275330	0.01665	N	0.025310	T	0.66147	0.2760	N	0.19112	0.55	0.31789	N	0.629863	B	0.17038	0.02	B	0.11329	0.006	T	0.42682	-0.9437	10	0.11794	T	0.64	.	15.3121	0.74042	0.0:1.0:0.0:0.0	.	17	Q05901	ACHB3_HUMAN	L	17	ENSP00000289957:S17L	ENSP00000289957:S17L	S	+	2	0	CHRNB3	42671896	1.000000	0.71417	0.991000	0.47740	0.183000	0.23260	4.151000	0.58105	2.775000	0.95449	0.650000	0.86243	TCA	CHRNB3	-	NULL		0.378	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB3	HGNC	protein_coding	OTTHUMT00000383055.1	C			42552739	+1	no_errors	ENST00000289957	ensembl	human	known	70_37	missense	SNP	0.997	T
CHRNE	1145	genome.wustl.edu	37	17	4804874	4804874	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:4804874C>T	ENST00000293780.4	-	6	557	c.547G>A	c.(547-549)Gac>Aac	p.D183N	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	183					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	CCGTCGTTGTCTACGGCAAAA	0.602																																																	0													196.0	161.0	173.0					17																	4804874		2203	4300	6503	SO:0001583	missense	1145			X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778	ENST00000293780.4:c.547G>A	17.37:g.4804874C>T	ENSP00000293780:p.Asp183Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTK6	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.D183N	ENST00000293780.4	37	c.547	CCDS11058.1	17	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770884	0.31320	.	.	ENSG00000108556	ENST00000293780	T	0.79352	-1.26	4.62	3.65	0.41850	Neurotransmitter-gated ion-channel ligand-binding (3);	0.356365	0.22393	N	0.060652	T	0.73218	0.3559	L	0.50919	1.6	0.51767	D	0.999939	B	0.29136	0.234	B	0.34536	0.185	T	0.73164	-0.4069	10	0.66056	D	0.02	.	10.6394	0.45584	0.0:0.9053:0.0:0.0947	.	183	Q04844	ACHE_HUMAN	N	183	ENSP00000293780:D183N	ENSP00000293780:D183N	D	-	1	0	CHRNE	4745653	0.004000	0.15560	0.121000	0.21740	0.005000	0.04900	1.994000	0.40757	1.176000	0.42840	0.561000	0.74099	GAC	CHRNE	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.602	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNE	HGNC	protein_coding	OTTHUMT00000207560.3	C			4804874	-1	no_errors	ENST00000293780	ensembl	human	known	70_37	missense	SNP	0.104	T
CHST10	9486	genome.wustl.edu	37	2	101010046	101010046	+	Silent	SNP	G	G	A	rs146724275		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:101010046G>A	ENST00000264249.3	-	7	1117	c.732C>T	c.(730-732)ctC>ctT	p.L244L	CHST10_ENST00000542617.1_Silent_p.L292L|CHST10_ENST00000409701.1_Silent_p.L244L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	244					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						TCGGATCGCCGAGGTAGCGCA	0.517																																																	0													261.0	240.0	247.0					2																	101010046		2203	4300	6503	SO:0001819	synonymous_variant	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.732C>T	2.37:g.101010046G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53T18	Silent	SNP	pfam_Sulfotransferase	p.L292	ENST00000264249.3	37	c.876	CCDS2047.1	2																																																																																			CHST10	-	pfam_Sulfotransferase		0.517	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST10	HGNC	protein_coding	OTTHUMT00000253162.1	G	NM_004854		101010046	-1	no_errors	ENST00000542617	ensembl	human	known	70_37	silent	SNP	1.000	A
CHST3	9469	genome.wustl.edu	37	10	73767071	73767071	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:73767071C>G	ENST00000373115.4	+	3	719	c.282C>G	c.(280-282)ctC>ctG	p.L94L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						AGAGCCGTCTCCGCAACCTCA	0.627																																																	0													42.0	37.0	39.0					10																	73767071		2203	4300	6503	SO:0001819	synonymous_variant	9469			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.282C>G	10.37:g.73767071C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75099|Q52M30	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.L94	ENST00000373115.4	37	c.282	CCDS7312.1	10																																																																																			CHST3	-	pirsf_Carbohydrate_sulfotransferase		0.627	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	C	NM_004273		73767071	+1	no_errors	ENST00000373115	ensembl	human	known	70_37	silent	SNP	0.877	G
CHST4	10164	genome.wustl.edu	37	16	71571446	71571446	+	Missense_Mutation	SNP	G	G	A	rs146072743	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:71571446G>A	ENST00000338482.5	+	3	1209	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	CHST4_ENST00000572450.1_Missense_Mutation_p.R289Q|CHST4_ENST00000539698.3_Missense_Mutation_p.R289Q|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	289					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAGACTTCCCGAATGTATGAA	0.562											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG,GLN/ARG	0,4396		0,0,2198	89.0	78.0	82.0		866,866	1.1	0.1	16	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	CHST4	NM_001166395.1,NM_005769.2	43,43	0,4,6494	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	289/387,289/387	71571446	4,12992	2198	4300	6498	SO:0001583	missense	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.866G>A	16.37:g.71571446G>A	ENSP00000341206:p.Arg289Gln	Somatic	1131	WXS	Illumina HiSeq	Phase_IV	Q8IV46|Q9Y5R3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.R289Q	ENST00000338482.5	37	c.866	CCDS10902.1	16	.	.	.	.	.	.	.	.	.	.	G	0.655	-0.808021	0.02819	0.0	4.65E-4	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.83506	-1.73;-1.73	6.02	1.13	0.20643	Sulfotransferase domain (1);	0.648698	0.15268	N	0.271430	T	0.66005	0.2746	N	0.17312	0.475	0.09310	N	1	B	0.20550	0.046	B	0.16289	0.015	T	0.49331	-0.8951	10	0.18710	T	0.47	-6.7456	8.6496	0.34027	0.4531:0.0:0.5469:0.0	.	289	Q8NCG5	CHST4_HUMAN	Q	289	ENSP00000341206:R289Q;ENSP00000441204:R289Q	ENSP00000341206:R289Q	R	+	2	0	CHST4	70128947	0.000000	0.05858	0.062000	0.19696	0.049000	0.14656	0.447000	0.21710	0.374000	0.24650	-0.122000	0.15005	CGA	CHST4	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.562	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	G	NM_005769		71571446	+1	no_errors	ENST00000338482	ensembl	human	known	70_37	missense	SNP	0.000	A
CIB4	130106	genome.wustl.edu	37	2	26863418	26863418	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:26863418G>A	ENST00000288861.4	-	2	125	c.72C>T	c.(70-72)acC>acT	p.T24T		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	24							calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCATTTCTGGTCAGGAAGG	0.567																																																	0													152.0	152.0	152.0					2																	26863418		2203	4300	6503	SO:0001819	synonymous_variant	130106				CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.72C>T	2.37:g.26863418G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU18	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T24	ENST00000288861.4	37	c.72	CCDS33160.1	2																																																																																			CIB4	-	NULL		0.567	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB4	HGNC	protein_coding	OTTHUMT00000324709.1	G			26863418	-1	no_errors	ENST00000288861	ensembl	human	known	70_37	silent	SNP	1.000	A
CKS1B	1163	genome.wustl.edu	37	1	154951278	154951278	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154951278C>G	ENST00000308987.5	+	0	312				CKS1B_ENST00000471245.1_3'UTR|CKS1B_ENST00000368439.1_3'UTR	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B						cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTTCAGCCTCAAGCTTTACA	0.393																																																	0													49.0	47.0	47.0					1																	154951278		2202	4280	6482	SO:0001624	3_prime_UTR_variant	1163			BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.*25C>G	1.37:g.154951278C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P33551	RNA	SNP	-	NULL	ENST00000308987.5	37	NULL	CCDS1077.1	1																																																																																			CKS1B	-	-		0.393	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKS1B	HGNC	protein_coding	OTTHUMT00000091078.1	C	NM_001826		154951278	+1	no_errors	ENST00000471245	ensembl	human	known	70_37	rna	SNP	0.030	G
CKS1B	1163	genome.wustl.edu	37	1	154951643	154951643	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154951643C>T	ENST00000308987.5	+	0	677				CKS1B_ENST00000368439.1_3'UTR	NM_001826.2	NP_001817.1	P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B						cell division (GO:0051301)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATTTATGTTTCAGTGTACTGG	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	1163			BC007751	CCDS1077.1	1q21.2	2011-04-28	2002-10-07		ENSG00000173207	ENSG00000173207			19083	protein-coding gene	gene with protein product		116900	"""CDC28 protein kinase 1B"""			2227411	Standard	NM_001826		Approved	ckshs1, CKS1	uc001fgb.3	P61024	OTTHUMG00000037413	ENST00000308987.5:c.*390C>T	1.37:g.154951643C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P33551	RNA	SNP	-	NULL	ENST00000308987.5	37	NULL	CCDS1077.1	1																																																																																			CKS1B	-	-		0.373	CKS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKS1B	HGNC	protein_coding	OTTHUMT00000091078.1	C	NM_001826		154951643	+1	no_errors	ENST00000474215	ensembl	human	known	70_37	rna	SNP	0.998	T
CLASP1	23332	genome.wustl.edu	37	2	122363302	122363302	+	Missense_Mutation	SNP	G	G	A	rs373752835		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:122363302G>A	ENST00000263710.4	-	2	559	c.170C>T	c.(169-171)tCt>tTt	p.S57F	Y_RNA_ENST00000410535.1_RNA|CLASP1_ENST00000409078.3_Missense_Mutation_p.S57F|CLASP1_ENST00000541377.1_Missense_Mutation_p.S57F|CLASP1_ENST00000455322.2_Missense_Mutation_p.S57F|CLASP1_ENST00000397587.3_Missense_Mutation_p.S57F	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	57					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GTTCACCCAAGAGGTAGCAAG	0.443																																																	0													149.0	141.0	143.0					2																	122363302		1970	4153	6123	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.170C>T	2.37:g.122363302G>A	ENSP00000263710:p.Ser57Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S57F	ENST00000263710.4	37	c.170		2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441700	0.63067	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	4.82	3.93	0.45458	Armadillo-like helical (1);Armadillo-type fold (1);	0.073249	0.56097	D	0.000028	T	0.54111	0.1838	L	0.51422	1.61	0.80722	D	1	P;D;D;P	0.54772	0.934;0.96;0.968;0.947	P;P;P;P	0.53450	0.564;0.605;0.726;0.481	T	0.58999	-0.7536	10	0.72032	D	0.01	.	13.5124	0.61519	0.0759:0.0:0.9241:0.0	.	57;57;57;57	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	F	57	ENSP00000263710:S57F;ENSP00000389372:S57F;ENSP00000380717:S57F;ENSP00000441625:S57F;ENSP00000386442:S57F	ENSP00000263710:S57F	S	-	2	0	CLASP1	122079772	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.174000	0.65015	1.251000	0.43983	0.563000	0.77884	TCT	CLASP1	-	superfamily_ARM-type_fold		0.443	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		G	NM_015282		122363302	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	A
CLDN8	9073	genome.wustl.edu	37	21	31587732	31587732	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:31587732G>C	ENST00000399899.1	-	1	659	c.512C>G	c.(511-513)aCg>aGg	p.T171R	CLDN8_ENST00000286809.1_Missense_Mutation_p.T171R	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	171					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						CACCAGTGCCGTGGTCCATCC	0.468																																																	0													75.0	75.0	75.0					21																	31587732		2203	4300	6503	SO:0001583	missense	9073			AJ250711	CCDS13587.1	21q22.1	2008-07-31			ENSG00000156284	ENSG00000156284		"""Claudins"""	2050	protein-coding gene	gene with protein product		611231				9892664	Standard	NM_199328		Approved		uc002ynu.2	P56748	OTTHUMG00000081872	ENST00000399899.1:c.512C>G	21.37:g.31587732G>C	ENSP00000382783:p.Thr171Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSE3|Q53EX7	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14	p.T171R	ENST00000399899.1	37	c.512	CCDS13587.1	21	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894296	0.52121	.	.	ENSG00000156284	ENST00000399899;ENST00000286809;ENST00000536721	D;D	0.88896	-2.44;-2.44	5.01	5.01	0.66863	.	0.053458	0.64402	D	0.000001	D	0.94771	0.8312	M	0.84326	2.69	0.80722	D	1	P	0.52316	0.952	D	0.68483	0.958	D	0.95101	0.8230	10	0.87932	D	0	.	18.4775	0.90798	0.0:0.0:1.0:0.0	.	171	P56748	CLD8_HUMAN	R	171	ENSP00000382783:T171R;ENSP00000286809:T171R	ENSP00000286809:T171R	T	-	2	0	CLDN8	30509603	0.998000	0.40836	0.965000	0.40720	0.100000	0.18952	6.439000	0.73430	2.768000	0.95171	0.650000	0.86243	ACG	CLDN8	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8		0.468	CLDN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN8	HGNC	protein_coding	OTTHUMT00000182260.1	G	NM_199328		31587732	-1	no_errors	ENST00000286809	ensembl	human	known	70_37	missense	SNP	0.999	C
CLTA	1211	genome.wustl.edu	37	9	36204091	36204091	+	Missense_Mutation	SNP	G	G	C	rs374987763		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:36204091G>C	ENST00000242285.6	+	4	520	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	CLTA_ENST00000540080.1_Missense_Mutation_p.E82Q|CLTA_ENST00000433436.2_Missense_Mutation_p.E134Q|CLTA_ENST00000345519.5_Missense_Mutation_p.E134Q|CLTA_ENST00000466396.1_Missense_Mutation_p.E82Q|CLTA_ENST00000470744.1_Missense_Mutation_p.E134Q|CLTA_ENST00000538225.1_Missense_Mutation_p.E134Q|CLTA_ENST00000396603.2_Missense_Mutation_p.E134Q			P09496	CLCA_HUMAN	clathrin, light chain A	134	Involved in binding clathrin heavy chain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	clathrin heavy chain binding (GO:0032050)|peptide binding (GO:0042277)|structural molecule activity (GO:0005198)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			GCAAGAAGCAGAGTGGAAAGA	0.423																																																	0													127.0	102.0	110.0					9																	36204091		2203	4300	6503	SO:0001583	missense	1211				CCDS6600.1, CCDS6601.1, CCDS43802.1, CCDS55306.1, CCDS55307.1	9p13.3	2010-05-11	2010-05-11		ENSG00000122705	ENSG00000122705			2090	protein-coding gene	gene with protein product		118960	"""clathrin, light polypeptide (Lca)"""			7713494	Standard	NM_007096		Approved	Lca	uc003zzc.3	P09496	OTTHUMG00000019896	ENST00000242285.6:c.400G>C	9.37:g.36204091G>C	ENSP00000242285:p.Glu134Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4W3|B4DIN1|F5H6N3|Q2XPN5|Q53XZ1	Missense_Mutation	SNP	pfam_Clathrin_L-chain	p.E134Q	ENST00000242285.6	37	c.400	CCDS6601.1	9	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129134	0.56721	.	.	ENSG00000122705	ENST00000433436;ENST00000538225;ENST00000540080;ENST00000345519;ENST00000470744;ENST00000242285;ENST00000466396;ENST00000396603	T	0.50001	0.76	5.92	4.08	0.47627	.	0.085942	0.85682	D	0.000000	T	0.69424	0.3109	M	0.87758	2.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.979;0.999;1.0	D;P;D;D	0.85130	0.994;0.877;0.99;0.997	T	0.71784	-0.4488	10	0.39692	T	0.17	-2.1346	11.2579	0.49065	0.1529:0.0:0.8471:0.0	.	134;134;134;134	B4DIN1;P09496-2;P09496-3;P09496	.;.;.;CLCA_HUMAN	Q	134;134;82;134;134;134;82;134	ENSP00000242284:E134Q	ENSP00000242285:E134Q	E	+	1	0	CLTA	36194091	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	9.078000	0.94023	1.526000	0.49068	-0.140000	0.14226	GAG	CLTA	-	pfam_Clathrin_L-chain		0.423	CLTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTA	HGNC	protein_coding	OTTHUMT00000052405.1	G	NM_007096		36204091	+1	no_errors	ENST00000464497	ensembl	human	known	70_37	missense	SNP	0.998	C
CMAHP	8418	genome.wustl.edu	37	6	25084933	25084933	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:25084933G>C	ENST00000377989.4	-	0	2078							Q9Y471	CMAH_HUMAN	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene						CMP-N-acetylneuraminate metabolic process (GO:0046381)	cytoplasm (GO:0005737)	2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491)			NS(1)	1						TCCAGCTGTTGATGTAGCTCA	0.423																																																	0																																												8418					6p23-p22	2011-04-28	2011-04-28	2011-04-28	ENSG00000168405	ENSG00000168405			2098	pseudogene	pseudogene		603209	"""cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)"""	CMAH		7608218, 9624188	Standard	NR_002174		Approved		uc003ner.4	Q9Y471	OTTHUMG00000016099		6.37:g.25084933G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7	RNA	SNP	-	NULL	ENST00000377989.4	37	NULL		6																																																																																			CMAHP	-	-		0.423	CMAHP-002	KNOWN	basic	processed_transcript	CMAHP	HGNC	pseudogene	OTTHUMT00000043292.2	G	NR_002174		25084933	-1	no_errors	ENST00000471416	ensembl	human	known	70_37	rna	SNP	0.000	C
CMAHP	8418	genome.wustl.edu	37	6	25097387	25097387	+	RNA	SNP	G	G	A	rs200154910		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:25097387G>A	ENST00000377989.4	-	0	1571							Q9Y471	CMAH_HUMAN	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene						CMP-N-acetylneuraminate metabolic process (GO:0046381)	cytoplasm (GO:0005737)	2 iron, 2 sulfur cluster binding (GO:0051537)|oxidoreductase activity (GO:0016491)			NS(1)	1						TAAGATTGTTGAGTTCATTTG	0.418																																																	0																																												8418					6p23-p22	2011-04-28	2011-04-28	2011-04-28	ENSG00000168405	ENSG00000168405			2098	pseudogene	pseudogene		603209	"""cytidine monophosphate-N-acetylneuraminic acid hydroxylase (CMP-N-acetylneuraminate monooxygenase)(pseudogene)"""	CMAH		7608218, 9624188	Standard	NR_002174		Approved		uc003ner.4	Q9Y471	OTTHUMG00000016099		6.37:g.25097387G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95250|Q5TD41|Q5TD42|Q5TD43|Q5TD44|Q68DC3|Q9UEE7	Silent	SNP	NULL	p.L280	ENST00000377989.4	37	c.840		6																																																																																			CMAHP	-	NULL		0.418	CMAHP-002	KNOWN	basic	processed_transcript	CMAHP	HGNC	pseudogene	OTTHUMT00000043292.2	G	NR_002174		25097387	-1	no_errors	ENST00000377989	ensembl	human	known	70_37	silent	SNP	0.999	A
CNGB3	54714	genome.wustl.edu	37	8	87590944	87590944	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:87590944G>A	ENST00000320005.5	-	17	2123	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	692					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCTTCAATTTGAGTAGTCTTG	0.478																																																	0													175.0	163.0	167.0					8																	87590944		2203	4300	6503	SO:0001819	synonymous_variant	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.2076C>T	8.37:g.87590944G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JA51|Q9NRE9	Silent	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.L692	ENST00000320005.5	37	c.2076	CCDS6244.1	8																																																																																			CNGB3	-	NULL		0.478	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1	G	NM_019098		87590944	-1	no_errors	ENST00000320005	ensembl	human	known	70_37	silent	SNP	0.216	A
CNN2	1265	genome.wustl.edu	37	19	1037782	1037782	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:1037782C>G	ENST00000263097.4	+	7	1176	c.813C>G	c.(811-813)ccC>ccG	p.P271P	CNN2_ENST00000348419.3_Silent_p.P232P|CNN2_ENST00000565096.2_Silent_p.P260P|CNN2_ENST00000562958.2_Silent_p.P292P|AC011558.5_ENST00000585757.1_RNA|CNN2_ENST00000606983.1_3'UTR|ABCA7_ENST00000263094.6_5'Flank	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	271					actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		TATATGACCCCAAGTACTGCC	0.652																																																	0													62.0	73.0	70.0					19																	1037782		2203	4296	6499	SO:0001819	synonymous_variant	1265			D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.813C>G	19.37:g.1037782C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.P271	ENST00000263097.4	37	c.813	CCDS12053.1	19																																																																																			CNN2	-	prints_Calponin		0.652	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN2	HGNC	protein_coding	OTTHUMT00000420293.3	C	NM_004368		1037782	+1	no_errors	ENST00000263097	ensembl	human	known	70_37	silent	SNP	1.000	G
CNN3	1266	genome.wustl.edu	37	1	95363403	95363403	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:95363403G>A	ENST00000370206.4	-	7	1268	c.885C>T	c.(883-885)atC>atT	p.I295I	CNN3_ENST00000545882.1_Silent_p.I254I|CNN3_ENST00000394202.4_Silent_p.I249I|CNN3_ENST00000538964.1_Silent_p.I295I|CNN3_ENST00000487539.1_5'Flank	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	295	Asp/Glu-rich (acidic).				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CACTATCACTGATTTCCGAAC	0.463																																																	0													299.0	258.0	272.0					1																	95363403		2203	4300	6503	SO:0001819	synonymous_variant	1266			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.885C>T	1.37:g.95363403G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFK6|B4DP09|F8WA86|Q6FHA7	Silent	SNP	pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin	p.I295	ENST00000370206.4	37	c.885	CCDS30775.1	1																																																																																			CNN3	-	NULL		0.463	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	HGNC	protein_coding	OTTHUMT00000029702.2	G	NM_001839		95363403	-1	no_errors	ENST00000370206	ensembl	human	known	70_37	silent	SNP	1.000	A
CNTN4	152330	genome.wustl.edu	37	3	3095557	3095557	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:3095557C>T	ENST00000397461.1	+	23	3262	c.2878C>T	c.(2878-2880)Ctt>Ttt	p.L960F	CNTN4_ENST00000397459.2_Missense_Mutation_p.L632F|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.L960F|CNTN4_ENST00000448906.2_Missense_Mutation_p.L632F|CNTN4_ENST00000358480.3_Missense_Mutation_p.L741F|CNTN4_ENST00000418658.1_Missense_Mutation_p.L960F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	960	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATCGGTGGAGCTTTCTTTGCC	0.418																																																	0													102.0	111.0	108.0					3																	3095557		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2878C>T	3.37:g.3095557C>T	ENSP00000380602:p.Leu960Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L960F	ENST00000397461.1	37	c.2878	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269465	0.80469	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.14	5.14	0.70334	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74417	-0.3672	10	0.39692	T	0.17	.	18.6165	0.91304	0.0:1.0:0.0:0.0	.	959;960	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	F	960;960;960;741;632;632	ENSP00000396010:L960F;ENSP00000380602:L960F;ENSP00000413642:L960F;ENSP00000351267:L741F;ENSP00000380600:L632F;ENSP00000392077:L632F	ENSP00000351267:L741F	L	+	1	0	CNTN4	3070557	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	4.494000	0.60347	2.377000	0.81083	0.655000	0.94253	CTT	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	C			3095557	+1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	T
COA5	493753	genome.wustl.edu	37	2	99220620	99220620	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:99220620C>T	ENST00000328709.3	-	2	220	c.134G>A	c.(133-135)gGa>gAa	p.G45E	COA5_ENST00000483527.1_5'UTR|COA5_ENST00000409997.1_Missense_Mutation_p.G45E	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	45						mitochondrion (GO:0005739)											GTTGCAGTATCCTTCCTTCAA	0.333																																																	0													83.0	83.0	83.0					2																	99220620		2203	4300	6503	SO:0001583	missense	493753				CCDS33257.1	2q11.2	2012-10-15	2012-10-15	2011-07-19	ENSG00000183513	ENSG00000183513		"""Mitochondrial respiratory chain complex assembly factors"""	33848	protein-coding gene	gene with protein product		613920	"""chromosome 2 open reading frame 64"""	C2orf64		21457908	Standard	NM_001008215		Approved	MGC52110, FLJ27524, Pet191	uc002syz.3	Q86WW8	OTTHUMG00000153101	ENST00000328709.3:c.134G>A	2.37:g.99220620C>T	ENSP00000330730:p.Gly45Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cyt_c_oxidase_assmbl_Pet191	p.G45E	ENST00000328709.3	37	c.134	CCDS33257.1	2	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228737	0.58777	.	.	ENSG00000183513	ENST00000328709;ENST00000409997	T;T	0.75938	-0.98;-0.98	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.71896	0.3394	.	.	.	0.58432	D	0.999999	P	0.41978	0.767	P	0.45138	0.471	T	0.67047	-0.5769	9	0.18710	T	0.47	-0.1325	17.8749	0.88822	0.0:1.0:0.0:0.0	.	45	Q86WW8	COA5_HUMAN	E	45	ENSP00000330730:G45E;ENSP00000386934:G45E	ENSP00000330730:G45E	G	-	2	0	COA5	98587052	1.000000	0.71417	0.971000	0.41717	0.425000	0.31504	6.027000	0.70881	2.697000	0.92050	0.591000	0.81541	GGA	COA5	-	pfam_Cyt_c_oxidase_assmbl_Pet191		0.333	COA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COA5	HGNC	protein_coding	OTTHUMT00000329529.2	C	NM_001008215		99220620	-1	no_errors	ENST00000328709	ensembl	human	known	70_37	missense	SNP	0.994	T
FUK	197258	genome.wustl.edu	37	16	70515274	70515274	+	IGR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70515274G>A	ENST00000288078.6	+	0	4081				COG4_ENST00000323786.5_Silent_p.L741L	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase							cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCTCCAGATTGAGGATGGTGG	0.592																																																	0													94.0	99.0	98.0					16																	70515274		2198	4300	6498	SO:0001628	intergenic_variant	25839				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085		16.37:g.70515274G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	pfam_COG_su4,smart_COG_su4	p.L741	ENST00000288078.6	37	c.2223	CCDS10891.2	16																																																																																			COG4	-	NULL		0.592	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COG4	HGNC	protein_coding	OTTHUMT00000157291.2	G	NM_145059		70515274	-1	no_errors	ENST00000323786	ensembl	human	known	70_37	silent	SNP	1.000	A
COL15A1	1306	genome.wustl.edu	37	9	101748154	101748154	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:101748154C>T	ENST00000375001.3	+	3	831	c.408C>T	c.(406-408)ctC>ctT	p.L136L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	136	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGATCATCCTCTACTACACGG	0.617																																																	0													95.0	89.0	91.0					9																	101748154		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.408C>T	9.37:g.101748154C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L136	ENST00000375001.3	37	c.408	CCDS35081.1	9																																																																																			COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.617	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	C	NM_001855		101748154	+1	no_errors	ENST00000375001	ensembl	human	known	70_37	silent	SNP	0.993	T
COL16A1	1307	genome.wustl.edu	37	1	32118157	32118158	+	3'UTR	INS	-	-	A	rs369128729|rs368642761		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:32118157_32118158insA	ENST00000373672.3	-	0	5425_5426				RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|COL16A1_ENST00000271069.6_3'UTR|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		acaacaacaacaacaaaaaaaa	0.396																																					Colon(143;498 1786 21362 25193 36625)												0																																										SO:0001624	3_prime_UTR_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.*95->T	1.37:g.32118159_32118159dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16593|Q59F89|Q71RG9	RNA	INS	-	NULL	ENST00000373672.3	37	NULL	CCDS41297.1	1																																																																																			COL16A1	-	-		0.396	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	NM_001856		32118158	-1	no_errors	ENST00000489280	ensembl	human	known	70_37	rna	INS	0.003:0.002	A
COL1A1	1277	genome.wustl.edu	37	17	48262976	48262976	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48262976C>G	ENST00000225964.5	-	51	4400	c.4282G>C	c.(4282-4284)Gaa>Caa	p.E1428Q		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1428	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GTTTTGTATTCAATCACTGTC	0.607			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																																	Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	0													110.0	91.0	97.0					17																	48262976		2203	4300	6503	SO:0001583	missense	1277			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4282G>C	17.37:g.48262976C>G	ENSP00000225964:p.Glu1428Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1428Q	ENST00000225964.5	37	c.4282	CCDS11561.1	17	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336532	0.41398	.	.	ENSG00000108821	ENST00000225964	T	0.76709	-1.04	4.49	2.42	0.29668	Fibrillar collagen, C-terminal (4);	0.065641	0.64402	D	0.000015	T	0.76535	0.4001	M	0.83603	2.65	0.37558	D	0.918966	B	0.14805	0.011	B	0.12837	0.008	T	0.74858	-0.3521	10	0.72032	D	0.01	.	8.946	0.35758	0.0:0.7644:0.1498:0.0858	.	1428	P02452	CO1A1_HUMAN	Q	1428	ENSP00000225964:E1428Q	ENSP00000225964:E1428Q	E	-	1	0	COL1A1	45617975	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.857000	0.69525	0.487000	0.27698	0.313000	0.20887	GAA	COL1A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.607	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A1	HGNC	protein_coding	OTTHUMT00000309036.2	C			48262976	-1	no_errors	ENST00000225964	ensembl	human	known	70_37	missense	SNP	1.000	G
COL2A1	1280	genome.wustl.edu	37	12	48369760	48369760	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:48369760C>T	ENST00000380518.3	-	50	3747	c.3583G>A	c.(3583-3585)Gaa>Aaa	p.E1195K	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.E1126K	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1195	Triple-helical region.		Missing (in SEDC).		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGCCGGTTTCGCCTGATCGT	0.607																																																	0													123.0	120.0	121.0					12																	48369760		2203	4300	6503	SO:0001583	missense	1280			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3583G>A	12.37:g.48369760C>T	ENSP00000369889:p.Glu1195Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.E1195K	ENST00000380518.3	37	c.3583	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583390	0.86748	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94184	-3.37;-3.37	5.11	5.11	0.69529	.	0.060920	0.64402	D	0.000007	D	0.95332	0.8485	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.77004	0.956;0.989	D	0.95694	0.8743	10	0.62326	D	0.03	.	17.3225	0.87239	0.0:1.0:0.0:0.0	.	1126;1195	P02458-1;P02458	.;CO2A1_HUMAN	K	1195;1126;1126	ENSP00000369889:E1195K;ENSP00000338213:E1126K	ENSP00000338213:E1126K	E	-	1	0	COL2A1	46656027	0.956000	0.32656	0.998000	0.56505	0.963000	0.63663	3.313000	0.51935	2.379000	0.81126	0.462000	0.41574	GAA	COL2A1	-	pfam_Collagen		0.607	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	HGNC	protein_coding	OTTHUMT00000313810.2	C	NM_001844		48369760	-1	no_errors	ENST00000380518	ensembl	human	known	70_37	missense	SNP	1.000	T
COL4A1	1282	genome.wustl.edu	37	13	110822996	110822996	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:110822996G>A	ENST00000375820.4	-	42	3761	c.3640C>T	c.(3640-3642)Cct>Tct	p.P1214S		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1214	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCCCCGGAGGACCCATGAAT	0.632																																																	0													30.0	35.0	33.0					13																	110822996		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3640C>T	13.37:g.110822996G>A	ENSP00000364979:p.Pro1214Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.P1214S	ENST00000375820.4	37	c.3640	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445569	0.43429	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.92752	-3.1	5.21	5.21	0.72293	.	0.408227	0.26673	N	0.023087	D	0.92437	0.7599	L	0.45698	1.435	0.80722	D	1	D	0.60160	0.987	D	0.64877	0.93	D	0.88842	0.3313	10	0.08837	T	0.75	.	12.2127	0.54389	0.0782:0.0:0.9218:0.0	.	1214	P02462	CO4A1_HUMAN	S	857;1214;863	ENSP00000364979:P1214S	ENSP00000364973:P857S	P	-	1	0	COL4A1	109620997	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.147000	0.50639	2.433000	0.82419	0.650000	0.86243	CCT	COL4A1	-	pfam_Collagen		0.632	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	G			110822996	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	missense	SNP	0.973	A
COL4A2	1284	genome.wustl.edu	37	13	111088663	111088663	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:111088663C>T	ENST00000360467.5	+	13	1080	c.774C>T	c.(772-774)ctC>ctT	p.L258L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	258	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAGACACCCTCCACCCCATCA	0.458																																																	0													91.0	96.0	94.0					13																	111088663		1947	4129	6076	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.774C>T	13.37:g.111088663C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L258	ENST00000360467.5	37	c.774	CCDS41907.1	13																																																																																			COL4A2	-	NULL		0.458	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	C	NM_001846		111088663	+1	no_errors	ENST00000360467	ensembl	human	known	70_37	silent	SNP	0.000	T
COL5A1	1289	genome.wustl.edu	37	9	137622308	137622308	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:137622308C>G	ENST00000371817.3	+	7	1565	c.1151C>G	c.(1150-1152)tCc>tGc	p.S384C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	384	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGACACCTCCAACTCCTCC	0.607																																																	0													58.0	58.0	58.0					9																	137622308		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1151C>G	9.37:g.137622308C>G	ENSP00000360882:p.Ser384Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.S384C	ENST00000371817.3	37	c.1151	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	C	5.311	0.242830	0.10077	.	.	ENSG00000130635	ENST00000371817	D	0.90004	-2.6	4.33	4.33	0.51752	.	1.875000	0.02840	U	0.127841	D	0.87346	0.6154	L	0.44542	1.39	0.24288	N	0.995171	B	0.22480	0.07	B	0.30179	0.112	T	0.72852	-0.4167	10	0.59425	D	0.04	.	7.6242	0.28202	0.2335:0.6145:0.152:0.0	.	384	P20908	CO5A1_HUMAN	C	384	ENSP00000360882:S384C	ENSP00000360882:S384C	S	+	2	0	COL5A1	136762129	0.349000	0.24870	0.079000	0.20413	0.004000	0.04260	0.379000	0.20585	1.954000	0.56735	0.563000	0.77884	TCC	COL5A1	-	NULL		0.607	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	C	NM_000093		137622308	+1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	0.715	G
COL5A2	1290	genome.wustl.edu	37	2	189904060	189904060	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:189904060G>A	ENST00000374866.3	-	51	4137	c.3863C>T	c.(3862-3864)tCg>tTg	p.S1288L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1288	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTGCTTTTTCGAGCCATCGGG	0.532																																																	0													119.0	113.0	115.0					2																	189904060		2203	4300	6503	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3863C>T	2.37:g.189904060G>A	ENSP00000364000:p.Ser1288Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.S1288L	ENST00000374866.3	37	c.3863	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774007	0.69992	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.75154	-0.91	5.18	5.18	0.71444	Fibrillar collagen, C-terminal (3);	0.000000	0.43416	D	0.000576	D	0.89577	0.6755	M	0.92317	3.295	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	D;D	0.79108	0.992;0.992	D	0.91466	0.5193	10	0.54805	T	0.06	.	18.6647	0.91485	0.0:0.0:1.0:0.0	.	928;1288	Q5PR22;P05997	.;CO5A2_HUMAN	L	1288;928	ENSP00000364000:S1288L	ENSP00000364000:S1288L	S	-	2	0	COL5A2	189612305	1.000000	0.71417	0.992000	0.48379	0.876000	0.50452	7.310000	0.78947	2.393000	0.81446	0.655000	0.94253	TCG	COL5A2	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.532	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	G	NM_000393		189904060	-1	no_errors	ENST00000374866	ensembl	human	known	70_37	missense	SNP	1.000	A
COL6A2	1292	genome.wustl.edu	37	21	47552126	47552126	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:47552126C>T	ENST00000300527.4	+	28	2824	c.2720C>T	c.(2719-2721)aCc>aTc	p.T907I		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	907	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCGCTGGAGACCACACAATAC	0.687																																																	0													18.0	18.0	18.0					21																	47552126		2188	4293	6481	SO:0001583	missense	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2720C>T	21.37:g.47552126C>T	ENSP00000300527:p.Thr907Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.T907I	ENST00000300527.4	37	c.2720	CCDS13728.1	21	.	.	.	.	.	.	.	.	.	.	C	0.673	-0.801021	0.02841	.	.	ENSG00000142173	ENST00000300527	T	0.78364	-1.17	4.18	0.35	0.16037	von Willebrand factor, type A (3);	1.174230	0.06360	U	0.711421	T	0.59569	0.2203	N	0.14661	0.345	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.43925	-0.9361	10	0.39692	T	0.17	-0.4065	4.6174	0.12433	0.6223:0.2056:0.172:0.0	.	907	P12110	CO6A2_HUMAN	I	907	ENSP00000300527:T907I	ENSP00000300527:T907I	T	+	2	0	COL6A2	46376554	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.169000	0.09911	-0.057000	0.13199	0.313000	0.20887	ACC	COL6A2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.687	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A2	HGNC	protein_coding	OTTHUMT00000206971.1	C			47552126	+1	no_errors	ENST00000300527	ensembl	human	known	70_37	missense	SNP	0.000	T
COL7A1	1294	genome.wustl.edu	37	3	48622354	48622354	+	Missense_Mutation	SNP	G	G	A	rs141720633		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48622354G>A	ENST00000328333.8	-	33	4107	c.4000C>T	c.(4000-4002)Cgt>Tgt	p.R1334C	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1334C	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1334	Interrupted collagenous region.|Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCCCCACGAGGGCCAGGC	0.647																																																	0								G	CYS/ARG	0,4402		0,0,2201	59.0	62.0	61.0		4000	4.4	1.0	3	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL7A1	NM_000094.3	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	1334/2945	48622354	1,13001	2201	4300	6501	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4000C>T	3.37:g.48622354G>A	ENSP00000332371:p.Arg1334Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R1334C	ENST00000328333.8	37	c.4000	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021570	0.19433	0.0	1.16E-4	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.97016	-4.21;-4.21	5.33	4.45	0.53987	.	0.545817	0.15031	N	0.284475	D	0.94823	0.8328	M	0.76433	2.335	0.38165	D	0.939144	B	0.06786	0.001	B	0.06405	0.002	D	0.93153	0.6551	10	0.59425	D	0.04	.	8.2939	0.31973	0.1804:0.0:0.8196:0.0	.	1334	Q02388	CO7A1_HUMAN	C	1334	ENSP00000332371:R1334C;ENSP00000412569:R1334C	ENSP00000332371:R1334C	R	-	1	0	COL7A1	48597358	0.001000	0.12720	0.978000	0.43139	0.759000	0.43091	0.344000	0.19962	1.251000	0.43983	-0.136000	0.14681	CGT	COL7A1	-	pfam_Collagen		0.647	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48622354	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.629	A
COL6A5	256076	genome.wustl.edu	37	3	130124985	130124985	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:130124985G>C	ENST00000432398.2	+	16	4885	c.4391G>C	c.(4390-4392)gGa>gCa	p.G1464A	COL6A5_ENST00000265379.6_Missense_Mutation_p.G1464A	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1464	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGGTCATGGAGACGATGGG	0.403																																																	0													157.0	125.0	135.0					3																	130124985		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.4391G>C	3.37:g.130124985G>C	ENSP00000390895:p.Gly1464Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.G1464A	ENST00000432398.2	37	c.4391		3	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369410	0.24771	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.99607	-5.75;-6.27	5.86	4.98	0.66077	.	.	.	.	.	D	0.99764	0.9904	H	0.96398	3.815	0.33018	D	0.528432	D	0.89917	1.0	D	0.97110	1.0	D	0.97069	0.9776	9	0.87932	D	0	.	15.9745	0.80049	0.0:0.1353:0.8647:0.0	.	1464	A8TX70-2	.	A	1464	ENSP00000390895:G1464A;ENSP00000265379:G1464A	ENSP00000265379:G1464A	G	+	2	0	COL6A5	131607675	1.000000	0.71417	0.550000	0.28217	0.010000	0.07245	4.164000	0.58190	1.465000	0.48006	0.650000	0.86243	GGA	COL6A5	-	pfam_Collagen		0.403	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		G	NM_153264		130124985	+1	no_errors	ENST00000265379	ensembl	human	known	70_37	missense	SNP	0.983	C
COL9A1	1297	genome.wustl.edu	37	6	70926358	70926358	+	3'UTR	DEL	T	T	-			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:70926358delT	ENST00000357250.6	-	0	3166				COL9A1_ENST00000320755.7_3'UTR|COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370499.4_3'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						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						TTTGGTTTTCTTTTTTTTTTT	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	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.*242A>-	6.37:g.70926358delT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	RNA	DEL	-	NULL	ENST00000357250.6	37	NULL	CCDS4971.1	6																																																																																			COL9A1	-	-		0.403	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	T			70926358	-1	no_errors	ENST00000486080	ensembl	human	known	70_37	rna	DEL	0.000	-
COLEC12	81035	genome.wustl.edu	37	18	333051	333051	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:333051C>T	ENST00000400256.3	-	7	2116	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	637	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GAAGACTTGTCTTCACAGAAA	0.388																																																	0													78.0	83.0	81.0					18																	333051		2203	4300	6503	SO:0001583	missense	81035			AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1909G>A	18.37:g.333051C>T	ENSP00000383115:p.Asp637Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.D637N	ENST00000400256.3	37	c.1909	CCDS32782.1	18	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028327	0.54790	.	.	ENSG00000158270	ENST00000400256	T	0.17528	2.27	5.91	5.04	0.67666	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.439740	0.27052	N	0.021162	T	0.09730	0.0239	N	0.05619	-0.0049999999999999	0.37620	D	0.921267	B	0.02656	0.0	B	0.08055	0.003	T	0.18461	-1.0336	10	0.18710	T	0.47	-14.8675	15.1382	0.72586	0.0:0.9323:0.0:0.0677	.	637	Q5KU26	COL12_HUMAN	N	637	ENSP00000383115:D637N	ENSP00000383115:D637N	D	-	1	0	COLEC12	323051	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.054000	0.49908	1.512000	0.48834	0.650000	0.86243	GAC	COLEC12	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.388	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC12	HGNC	protein_coding	OTTHUMT00000440746.1	C			333051	-1	no_errors	ENST00000400256	ensembl	human	known	70_37	missense	SNP	1.000	T
COMMD6	170622	genome.wustl.edu	37	13	76111745	76111745	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:76111745C>T	ENST00000377615.3	-	3	219				COMMD6_ENST00000377619.5_5'UTR|COMMD6_ENST00000460675.1_Intron|COMMD6_ENST00000355801.4_Intron|COMMD6_ENST00000406936.3_Intron			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6						negative regulation of NF-kappaB transcription factor activity (GO:0032088)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		GGCACGGCCTCGCGGCCGTGG	0.637																																																	0													12.0	17.0	16.0					13																	76111745		692	1591	2283	SO:0001627	intron_variant	170622			AY542161	CCDS9451.1, CCDS9452.1	13q22	2004-02-18			ENSG00000188243	ENSG00000188243			24015	protein-coding gene	gene with protein product		612377				15799966	Standard	NM_203497		Approved	Acrg	uc001vjn.1	Q7Z4G1	OTTHUMG00000017089	ENST00000377615.3:c.54+54G>A	13.37:g.76111745C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF28|B7ZLN0|Q5TBK4	RNA	SNP	-	NULL	ENST00000377615.3	37	NULL	CCDS9451.1	13																																																																																			COMMD6	-	-		0.637	COMMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD6	HGNC	protein_coding	OTTHUMT00000045288.4	C	XM_085023		76111745	-1	no_errors	ENST00000471682	ensembl	human	known	70_37	rna	SNP	0.000	T
COMMD7	149951	genome.wustl.edu	37	20	31291246	31291246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:31291246G>A	ENST00000278980.6	-	9	1146	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	COMMD7_ENST00000446419.2_Nonsense_Mutation_p.Q180*	NM_001099339.1|NM_053041.2	NP_001092809.1|NP_444269.2	Q86VX2	COMD7_HUMAN	COMM domain containing 7	181	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular vesicular exosome (GO:0070062)	NF-kappaB binding (GO:0051059)			breast(1)|endometrium(1)|lung(3)	5						CTGTAGAACTGAGGCAAGGTT	0.478																																																	0													84.0	87.0	86.0					20																	31291246		1911	4120	6031	SO:0001587	stop_gained	149951			AY542162	CCDS42864.1, CCDS46587.1	20q11	2004-03-02	2004-02-13	2004-02-18	ENSG00000149600	ENSG00000149600			16223	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 92"""	C20orf92		15799966	Standard	NM_001099339		Approved	dJ1085F17.3	uc002wya.4	Q86VX2	OTTHUMG00000032229	ENST00000278980.6:c.541C>T	20.37:g.31291246G>A	ENSP00000278980:p.Gln181*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BHJ2|B3KTZ2|Q5JYB0|Q96SI7|Q9BW53	Nonsense_Mutation	SNP	pfam_HCaRG	p.Q181*	ENST00000278980.6	37	c.541	CCDS42864.1	20	.	.	.	.	.	.	.	.	.	.	g	41	8.647696	0.98899	.	.	ENSG00000149600	ENST00000278980;ENST00000446419	.	.	.	5.38	4.43	0.53597	.	0.287422	0.35646	N	0.003072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	13.3866	0.60799	0.0:0.1575:0.8425:0.0	.	.	.	.	X	181;180	.	ENSP00000278980:Q181X	Q	-	1	0	COMMD7	30754907	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.470000	0.80973	1.489000	0.48450	0.655000	0.94253	CAG	COMMD7	-	pfam_HCaRG		0.478	COMMD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COMMD7	HGNC	protein_coding	OTTHUMT00000078648.2	G	NM_053041		31291246	-1	no_errors	ENST00000278980	ensembl	human	known	70_37	nonsense	SNP	1.000	A
COPA	1314	genome.wustl.edu	37	1	160276954	160276954	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:160276954G>A	ENST00000241704.7	-	14	1530	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	COPA_ENST00000368069.3_Splice_Site_p.S434L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	434					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTAACTCACCGAATGCATCCG	0.483																																																	0													157.0	155.0	155.0					1																	160276954		2203	4300	6503	SO:0001630	splice_region_variant	1314			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1302+1C>T	1.37:g.160276954G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S434L	ENST00000241704.7	37	c.1301	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628656	0.67015	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62105	0.06;0.05	5.46	5.46	0.80206	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.50394	0.1613	L	0.58101	1.795	0.80722	D	1	B;B	0.33964	0.016;0.434	B;B	0.32289	0.009;0.143	T	0.57165	-0.7858	10	0.56958	D	0.05	-5.566	18.0325	0.89289	0.0:0.0:1.0:0.0	.	434;434	P53621;P53621-2	COPA_HUMAN;.	L	434	ENSP00000357048:S434L;ENSP00000241704:S434L	ENSP00000241704:S434L	S	-	2	0	COPA	158543578	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.358000	0.97109	2.847000	0.97988	0.591000	0.81541	TCG	COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu		0.483	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	G	NM_004371	Missense_Mutation	160276954	-1	no_errors	ENST00000368069	ensembl	human	known	70_37	missense	SNP	1.000	A
CPAMD8	27151	genome.wustl.edu	37	19	17039021	17039021	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:17039021G>C	ENST00000443236.1	-	25	3340	c.3309C>G	c.(3307-3309)tcC>tcG	p.S1103S		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1056						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGACTCATTGGATGGCTCTG	0.577																																																	0													34.0	38.0	37.0					19																	17039021		1973	4158	6131	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3309C>G	19.37:g.17039021G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.S1103	ENST00000443236.1	37	c.3309	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	G	0.467	-0.886461	0.02511	.	.	ENSG00000160111	ENST00000443236	T	0.36520	1.25	3.13	2.05	0.26809	.	.	.	.	.	T	0.41050	0.1142	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10474	-1.0628	5	.	.	.	.	10.4377	0.44445	0.0:0.0:0.6261:0.3739	.	.	.	.	R	1114	ENSP00000402505:P1114R	.	P	-	2	0	CPAMD8	16900021	1.000000	0.71417	0.880000	0.34516	0.085000	0.17905	2.338000	0.43957	0.295000	0.22570	0.655000	0.94253	CCA	CPAMD8	-	pfam_Methyltransf_FA		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	G	NM_015692		17039021	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	silent	SNP	1.000	C
CPEB1	64506	genome.wustl.edu	37	15	83224721	83224721	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:83224721C>G	ENST00000562019.1	-	5	1074	c.758G>C	c.(757-759)aGa>aCa	p.R253T	CPEB1_ENST00000398591.2_Missense_Mutation_p.R178T|CPEB1_ENST00000261723.6_Missense_Mutation_p.R256T|CPEB1_ENST00000423133.2_Missense_Mutation_p.R178T|CPEB1_ENST00000564522.1_Missense_Mutation_p.R178T|CPEB1_ENST00000563800.1_Missense_Mutation_p.R280T|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000450751.2_Missense_Mutation_p.R178T|CPEB1_ENST00000568128.1_Missense_Mutation_p.R253T|CPEB1_ENST00000568757.1_Missense_Mutation_p.R178T|RP11-152F13.10_ENST00000562833.1_5'Flank|CPEB1_ENST00000398592.2_Missense_Mutation_p.R27T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	253					cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCCTGGCCATCTCTTTGAAGC	0.587																																																	0													52.0	54.0	53.0					15																	83224721		1963	4134	6097	SO:0001583	missense	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.758G>C	15.37:g.83224721C>G	ENSP00000457836:p.Arg253Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	pfscan_RRM_dom	p.R253T	ENST00000562019.1	37	c.758		15	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472335	0.63737	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.08984	3.03;3.03;3.03;3.03	5.66	4.75	0.60458	.	0.058732	0.64402	U	0.000004	T	0.12220	0.0297	L	0.50333	1.59	0.48762	D	0.999704	P;P;P;P	0.42692	0.763;0.787;0.763;0.763	B;P;B;B	0.44359	0.288;0.447;0.288;0.288	T	0.01444	-1.1353	10	0.66056	D	0.02	-10.0635	11.4663	0.50241	0.0:0.8558:0.0:0.1442	.	256;253;253;253	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	T	253;253;178;178;256;27	ENSP00000397526:R178T;ENSP00000381591:R178T;ENSP00000261723:R256T;ENSP00000381592:R27T	ENSP00000261723:R256T	R	-	2	0	CPEB1	81021776	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.883000	0.48554	1.392000	0.46585	0.655000	0.94253	AGA	CPEB1	-	NULL		0.587	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	C	NM_030594		83224721	-1	no_errors	ENST00000562019	ensembl	human	known	70_37	missense	SNP	1.000	G
CPED1	79974	genome.wustl.edu	37	7	120691213	120691213	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:120691213G>A	ENST00000310396.5	+	4	1007				CPED1_ENST00000450913.2_Intron|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)											AAACTGAGGAGAGTCCAGCCT	0.443																																																	0																																										SO:0001627	intron_variant	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.540+4166G>A	7.37:g.120691213G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	RNA	SNP	-	NULL	ENST00000310396.5	37	NULL	CCDS34739.1	7																																																																																			CPED1	-	-		0.443	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPED1	HGNC	protein_coding	OTTHUMT00000346959.1	G	NM_024913		120691213	+1	no_errors	ENST00000495036	ensembl	human	known	70_37	rna	SNP	1.000	A
CPQ	10404	genome.wustl.edu	37	8	98041688	98041688	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:98041688G>C	ENST00000220763.5	+	6	1229	c.1019G>C	c.(1018-1020)gGa>gCa	p.G340A		NM_016134.2	NP_057218.1	Q9Y646	CBPQ_HUMAN	carboxypeptidase Q	340					peptide catabolic process (GO:0043171)|proteolysis (GO:0006508)|thyroid hormone generation (GO:0006590)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)	carboxypeptidase activity (GO:0004180)|metal ion binding (GO:0046872)|metallodipeptidase activity (GO:0070573)|protein homodimerization activity (GO:0042803)										GAACAAGGTGGAGTTGGTGCC	0.408																																																	0													80.0	76.0	77.0					8																	98041688		2203	4300	6503	SO:0001583	missense	10404			AF107834	CCDS6273.1	8q22.2	2012-02-17			ENSG00000104324	ENSG00000104324			16910	protein-coding gene	gene with protein product	"""lysosomal dipeptidase"", ""Ser-Met dipeptidase"", ""plasma glutamate carboxypeptidase"""					10206990	Standard	NM_016134		Approved	LDP, PGCP	uc003yhw.3	Q9Y646	OTTHUMG00000164690	ENST00000220763.5:c.1019G>C	8.37:g.98041688G>C	ENSP00000220763:p.Gly340Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD88|Q8NBZ1|Q9UNM8|Q9Y5X6	Missense_Mutation	SNP	pfam_Peptidase_M28,pfam_Peptidase_M20	p.G340A	ENST00000220763.5	37	c.1019	CCDS6273.1	8	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426728	0.25726	.	.	ENSG00000104324	ENST00000220763	T	0.47177	0.85	5.64	4.75	0.60458	Peptidase M28 (1);	0.062777	0.64402	N	0.000006	T	0.39759	0.1090	L	0.41356	1.27	0.35387	D	0.790418	B	0.06786	0.001	B	0.16289	0.015	T	0.46148	-0.9212	10	0.44086	T	0.13	-21.249	12.4139	0.55481	0.0:0.169:0.831:0.0	.	340	Q9Y646	PGCP_HUMAN	A	340	ENSP00000220763:G340A	ENSP00000220763:G340A	G	+	2	0	AC010859.1	98110864	1.000000	0.71417	0.556000	0.28293	0.976000	0.68499	5.702000	0.68332	1.335000	0.45486	0.655000	0.94253	GGA	CPQ	-	pfam_Peptidase_M28,pfam_Peptidase_M20		0.408	CPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPQ	HGNC	protein_coding	OTTHUMT00000379757.2	G	NM_016134		98041688	+1	no_errors	ENST00000220763	ensembl	human	known	70_37	missense	SNP	0.584	C
CPXM2	119587	genome.wustl.edu	37	10	125539727	125539727	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:125539727C>T	ENST00000241305.3	-	7	1088	c.934G>A	c.(934-936)Gat>Aat	p.D312N	CPXM2_ENST00000368854.3_5'UTR|RP11-391M7.3_ENST00000446888.1_RNA	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	312					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCAGGTCATCAGTGGTGGTC	0.418																																																	0													203.0	197.0	199.0					10																	125539727		2203	4300	6503	SO:0001583	missense	119587			AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.934G>A	10.37:g.125539727C>T	ENSP00000241305:p.Asp312Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3Q2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14	p.D312N	ENST00000241305.3	37	c.934	CCDS7637.1	10	.	.	.	.	.	.	.	.	.	.	C	19.75	3.884977	0.72410	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.96459	-4.02	4.62	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.96775	0.8947	M	0.65498	2.005	0.80722	D	1	D	0.61697	0.99	P	0.58013	0.831	D	0.96351	0.9258	10	0.56958	D	0.05	-9.7517	12.4131	0.55478	0.0:0.9177:0.0:0.0823	.	312	Q8N436	CPXM2_HUMAN	N	312;145;312	ENSP00000241305:D312N	ENSP00000241305:D312N	D	-	1	0	CPXM2	125529717	1.000000	0.71417	0.305000	0.25099	0.432000	0.31715	7.353000	0.79414	1.169000	0.42739	-0.136000	0.14681	GAT	CPXM2	-	NULL		0.418	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CPXM2	HGNC	protein_coding	OTTHUMT00000050853.1	C	NM_198148		125539727	-1	no_errors	ENST00000241305	ensembl	human	known	70_37	missense	SNP	0.996	T
CREB3L1	90993	genome.wustl.edu	37	11	46329438	46329438	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:46329438G>C	ENST00000529193.1	+	3	854	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	CREB3L1_ENST00000288400.3_Missense_Mutation_p.E135Q			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	135					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GCAGAGCCCGGAGCTGCCCGT	0.682			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)			Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													10.0	13.0	12.0					11																	46329438		2007	4151	6158	SO:0001583	missense	90993				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.403G>C	11.37:g.46329438G>C	ENSP00000434939:p.Glu135Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2D5|Q96CP0	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.E135Q	ENST00000529193.1	37	c.403	CCDS53620.1	11	.	.	.	.	.	.	.	.	.	.	G	23.5	4.417891	0.83449	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000534787	T;T;T	0.48836	0.8;0.8;0.8	4.79	4.79	0.61399	.	0.343284	0.27393	N	0.019579	T	0.49389	0.1554	L	0.40543	1.245	0.33539	D	0.594671	D	0.58268	0.982	P	0.52793	0.709	T	0.53899	-0.8373	10	0.15952	T	0.53	-12.6276	16.387	0.83514	0.0:0.0:1.0:0.0	.	135	Q96BA8	CR3L1_HUMAN	Q	135;135;89	ENSP00000434939:E135Q;ENSP00000288400:E135Q;ENSP00000431677:E89Q	ENSP00000288400:E135Q	E	+	1	0	CREB3L1	46286014	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.238000	0.65366	2.379000	0.81126	0.555000	0.69702	GAG	CREB3L1	-	NULL		0.682	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	HGNC	protein_coding	OTTHUMT00000389702.1	G	NM_052854		46329438	+1	no_errors	ENST00000288400	ensembl	human	known	70_37	missense	SNP	1.000	C
CREB5	9586	genome.wustl.edu	37	7	28534554	28534554	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:28534554C>T	ENST00000357727.2	+	3	496	c.106C>T	c.(106-108)Cat>Tat	p.H36Y	CREB5_ENST00000396299.2_Missense_Mutation_p.H3Y|CREB5_ENST00000409603.1_Missense_Mutation_p.H3Y|CREB5_ENST00000396300.2_Missense_Mutation_p.H29Y	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	36					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCTGATGATTCATAGGCACAA	0.388																																																	0													129.0	137.0	134.0					7																	28534554		2203	4300	6503	SO:0001583	missense	9586			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.106C>T	7.37:g.28534554C>T	ENSP00000350359:p.His36Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.H36Y	ENST00000357727.2	37	c.106	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976547	0.74360	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;D;D;D;T	0.98120	1.44;-4.73;-4.73;-4.73;1.44	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.98729	0.9573	M	0.84082	2.675	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.99556	1.0967	10	0.87932	D	0	-13.1242	19.9596	0.97236	0.0:1.0:0.0:0.0	.	36	Q02930	CREB5_HUMAN	Y	3;29;36;29;3	ENSP00000379593:H3Y;ENSP00000394088:H29Y;ENSP00000350359:H36Y;ENSP00000379594:H29Y;ENSP00000387197:H3Y	ENSP00000350359:H36Y	H	+	1	0	CREB5	28501079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.476000	0.81055	2.726000	0.93360	0.655000	0.94253	CAT	CREB5	-	pirsf_TF_cAMP-dep,pfscan_Znf_C2H2		0.388	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	C	NM_004904		28534554	+1	no_errors	ENST00000357727	ensembl	human	known	70_37	missense	SNP	1.000	T
CREBBP	1387	genome.wustl.edu	37	16	3900710	3900710	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3900710G>A	ENST00000262367.5	-	2	1195	c.386C>T	c.(385-387)tCa>tTa	p.S129L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S129L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	129					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGGGGCTGAAGAATCTCC	0.647			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													42.0	43.0	43.0					16																	3900710		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.386C>T	16.37:g.3900710G>A	ENSP00000262367:p.Ser129Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S129L	ENST00000262367.5	37	c.386	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270660	0.59540	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82711	-1.64;-1.6	5.73	4.77	0.60923	.	0.496860	0.20213	N	0.096860	D	0.83403	0.5247	L	0.29908	0.895	0.46954	D	0.999268	D;P	0.53745	0.962;0.826	P;B	0.56088	0.791;0.262	D	0.83803	0.0237	10	0.48119	T	0.1	-4.7213	15.3598	0.74464	0.0:0.0:0.8599:0.1401	.	197;129	Q4LE28;Q92793	.;CBP_HUMAN	L	129;197;129	ENSP00000262367:S129L;ENSP00000371502:S129L	ENSP00000262367:S129L	S	-	2	0	CREBBP	3840711	1.000000	0.71417	0.902000	0.35471	0.982000	0.71751	5.844000	0.69430	1.393000	0.46605	0.555000	0.69702	TCA	CREBBP	-	NULL		0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900710	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	0.997	A
CREBBP	1387	genome.wustl.edu	37	16	3901001	3901001	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3901001G>A	ENST00000262367.5	-	2	904	c.95C>T	c.(94-96)tCa>tTa	p.S32L	CREBBP_ENST00000382070.3_Missense_Mutation_p.S32L	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	32					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCAAACAATGATCCAAAATC	0.403			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													55.0	54.0	55.0					16																	3901001		2195	4291	6486	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.95C>T	16.37:g.3901001G>A	ENSP00000262367:p.Ser32Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S32L	ENST00000262367.5	37	c.95	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054063	0.75960	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.86562	-2.14;-2.12	5.92	5.92	0.95590	.	0.086452	0.49916	D	0.000127	D	0.92172	0.7518	M	0.72894	2.215	0.80722	D	1	P;D	0.58620	0.949;0.983	P;P	0.57101	0.719;0.813	D	0.92259	0.5815	10	0.87932	D	0	-4.3311	20.3206	0.98668	0.0:0.0:1.0:0.0	.	100;32	Q4LE28;Q92793	.;CBP_HUMAN	L	32;100;32	ENSP00000262367:S32L;ENSP00000371502:S32L	ENSP00000262367:S32L	S	-	2	0	CREBBP	3841002	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.390000	0.79816	2.809000	0.96659	0.655000	0.94253	TCA	CREBBP	-	NULL		0.403	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3901001	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	A
CREBRF	153222	genome.wustl.edu	37	5	172518197	172518197	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:172518197C>G	ENST00000296953.2	+	4	1334	c.1015C>G	c.(1015-1017)Ctt>Gtt	p.L339V	CREBRF_ENST00000522692.1_Missense_Mutation_p.L339V|CREBRF_ENST00000540014.1_Missense_Mutation_p.L339V|CREBRF_ENST00000520420.1_Missense_Mutation_p.L339V	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	339					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAATTATTCTCTTTTTGTCTC	0.473																																																	0													79.0	73.0	75.0					5																	172518197		2203	4300	6503	SO:0001583	missense	153222			AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1015C>G	5.37:g.172518197C>G	ENSP00000296953:p.Leu339Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	NULL	p.L339V	ENST00000296953.2	37	c.1015	CCDS34293.1	5	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322970	0.60634	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T	0.60040	0.22;0.22	5.52	5.52	0.82312	.	0.125075	0.56097	D	0.000037	T	0.68677	0.3027	L	0.32530	0.975	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.79108	0.992;0.992	T	0.69665	-0.5084	10	0.54805	T	0.06	.	19.4372	0.94801	0.0:1.0:0.0:0.0	.	339;339	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	V	339	ENSP00000296953:L339V;ENSP00000440075:L339V	ENSP00000296953:L339V	L	+	1	0	C5orf41	172450803	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.227000	0.65305	2.601000	0.87937	0.655000	0.94253	CTT	CREBRF	-	NULL		0.473	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBRF	HGNC	protein_coding	OTTHUMT00000372667.1	C	NM_153607		172518197	+1	no_errors	ENST00000540014	ensembl	human	known	70_37	missense	SNP	1.000	G
CREM	1390	genome.wustl.edu	37	10	35456683	35456683	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:35456683C>T	ENST00000395895.2	+	4	330				CREM_ENST00000354759.3_Intron|CREM_ENST00000374728.3_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000395887.3_Silent_p.F10F|CREM_ENST00000337656.4_Intron|CREM_ENST00000374721.3_Intron|CREM_ENST00000374734.3_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000489388.1_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000333809.8_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000484283.1_Silent_p.F10F|CREM_ENST00000345491.3_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000361599.4_Silent_p.F10F			Q03060	CREM_HUMAN	cAMP responsive element modulator						cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						ATCTATGTTTCAGGCGTCCTA	0.378																																																	0													195.0	191.0	193.0					10																	35456683		2203	4300	6503	SO:0001627	intron_variant	1390				CCDS7180.1, CCDS7181.1, CCDS7182.1, CCDS7183.1, CCDS7184.1, CCDS7185.1, CCDS7186.1, CCDS7187.1, CCDS7188.1, CCDS31181.1, CCDS53519.1, CCDS53520.1, CCDS53517.1, CCDS53518.1, CCDS53521.1, CCDS58074.1, CCDS58075.1, CCDS58076.1	10p12.1-p11.1	2013-01-10			ENSG00000095794	ENSG00000095794		"""basic leucine zipper proteins"""	2352	protein-coding gene	gene with protein product		123812				1461747, 7916662	Standard	NM_182717		Approved	hCREM-2	uc001iyb.3	Q03060	OTTHUMG00000017953	ENST00000395895.2:c.169-8098C>T	10.37:g.35456683C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9	Silent	SNP	pfam_bZIP,pfam_Coactivator_CBP_pKID,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB	p.F10	ENST00000395895.2	37	c.30		10																																																																																			CREM	-	NULL		0.378	CREM-203	KNOWN	basic|appris_principal	protein_coding	CREM	HGNC	protein_coding		C	NM_001881		35456683	+1	no_errors	ENST00000395887	ensembl	human	known	70_37	silent	SNP	1.000	T
CRHR1	1394	genome.wustl.edu	37	17	43908278	43908278	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:43908278A>G	ENST00000398285.3	+	9	829	c.829A>G	c.(829-831)Att>Gtt	p.I277V	CRHR1_ENST00000314537.5_Missense_Mutation_p.I248V|CRHR1_ENST00000339069.5_Missense_Mutation_p.I147V|CRHR1_ENST00000293493.7_Missense_Mutation_p.I73V|CRHR1_ENST00000577353.1_Missense_Mutation_p.I248V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I208V	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	277					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGCCTGGGCCATTGGGAAGCT	0.602																																					Ovarian(110;57 1568 10207 38216 49865)												0													66.0	70.0	68.0					17																	43908278		2002	4154	6156	SO:0001583	missense	1394			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.829A>G	17.37:g.43908278A>G	ENSP00000381333:p.Ile277Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt	p.I277V	ENST00000398285.3	37	c.829	CCDS45712.1	17	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775743	0.31411	.	.	ENSG00000120088	ENST00000293493;ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.44482	1.23;0.92;1.23;1.23;1.23	4.86	4.86	0.63082	GPCR, family 2-like (1);	0.049702	0.85682	D	0.000000	T	0.20373	0.0490	N	0.02865	-0.47	0.58432	D	0.999999	B;B;B;B;B;B	0.15930	0.004;0.008;0.0;0.015;0.004;0.004	B;B;B;B;B;B	0.22601	0.012;0.029;0.012;0.04;0.012;0.012	T	0.09465	-1.0673	10	0.21540	T	0.41	.	12.4542	0.55695	1.0:0.0:0.0:0.0	.	248;277;147;147;208;248	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	73;147;277;248;248;208	ENSP00000293493:I73V;ENSP00000340522:I147V;ENSP00000381333:I277V;ENSP00000326060:I248V;ENSP00000344068:I208V	ENSP00000293493:I73V	I	+	1	0	CRHR1	41264059	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.637000	0.46553	2.037000	0.60232	0.459000	0.35465	ATT	CRHR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.602	CRHR1-001	KNOWN	basic|CCDS	protein_coding	CRHR1	HGNC	protein_coding	OTTHUMT00000441241.3	A			43908278	+1	no_errors	ENST00000398285	ensembl	human	known	70_37	missense	SNP	1.000	G
CRTC3	64784	genome.wustl.edu	37	15	91141768	91141768	+	Intron	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:91141768G>T	ENST00000268184.6	+	4	355				CRTC3_ENST00000560098.1_3'UTR|CRTC3_ENST00000558619.1_Intron|CRTC3_ENST00000420329.2_Intron|CTD-3065B20.2_ENST00000558389.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3						energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCAGAGGCTTGgggagagaga	0.493			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0																																										SO:0001627	intron_variant	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.352-3788G>T	15.37:g.91141768G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	RNA	SNP	-	NULL	ENST00000268184.6	37	NULL	CCDS32331.1	15																																																																																			CRTC3	-	-		0.493	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	G	NM_022769		91141768	+1	no_errors	ENST00000561290	ensembl	human	putative	70_37	rna	SNP	0.001	T
CRTC3	64784	genome.wustl.edu	37	15	91141793	91141793	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:91141793G>A	ENST00000268184.6	+	4	355				CRTC3_ENST00000560098.1_3'UTR|CRTC3_ENST00000558619.1_Intron|CRTC3_ENST00000420329.2_Intron|CTD-3065B20.2_ENST00000558389.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3						energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			acactgggatgactctgagat	0.493			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0																																										SO:0001627	intron_variant	64784				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.352-3763G>A	15.37:g.91141793G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	RNA	SNP	-	NULL	ENST00000268184.6	37	NULL	CCDS32331.1	15																																																																																			CRTC3	-	-		0.493	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2	G	NM_022769		91141793	+1	no_errors	ENST00000561290	ensembl	human	putative	70_37	rna	SNP	0.000	A
CSF1R	1436	genome.wustl.edu	37	5	149450125	149450125	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149450125G>T	ENST00000286301.3	-	8	1383	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	CSF1R_ENST00000543093.1_Nonsense_Mutation_p.S300*	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	364	Ig-like C2-type 4.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GAGAGAGGGTGAAGGTGTGCC	0.592																																																	0													25.0	24.0	24.0					5																	149450125		2148	4194	6342	SO:0001583	missense	1436			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1092C>A	5.37:g.149450125G>T	ENSP00000286301:p.Phe364Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S300*	ENST00000286301.3	37	c.899	CCDS4302.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.03|12.03	1.814804|1.814804	0.32053|0.32053	.|.	.|.	ENSG00000182578|ENSG00000182578	ENST00000286301;ENST00000394307|ENST00000543093	T|.	0.26810|.	1.71|.	5.58|5.58	2.48|2.48	0.30137|0.30137	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.562832|.	0.15885|.	N|.	0.239845|.	T|.	0.46092|.	0.1375|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	B;B|.	0.22414|.	0.001;0.069|.	B;B|.	0.18263|.	0.008;0.021|.	T|.	0.40905|.	-0.9538|.	10|.	0.66056|0.59425	D|D	0.02|0.04	.|.	5.0485|5.0485	0.14496|0.14496	0.0867:0.1366:0.6195:0.1571|0.0867:0.1366:0.6195:0.1571	.|.	216;364|.	B4E2Y8;P07333|.	.;CSF1R_HUMAN|.	L|X	364;216|300	ENSP00000286301:F364L|.	ENSP00000286301:F364L|ENSP00000445282:S300X	F|S	-|-	3|2	2|0	CSF1R|CSF1R	149430318|149430318	0.901000|0.901000	0.30685|0.30685	0.240000|0.240000	0.24138|0.24138	0.498000|0.498000	0.33706|0.33706	0.665000|0.665000	0.25083|0.25083	0.713000|0.713000	0.32060|0.32060	-0.258000|-0.258000	0.10820|0.10820	TTC|TCA	CSF1R	-	NULL		0.592	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	G	NM_005211		149450125	-1	no_errors	ENST00000543093	ensembl	human	known	70_37	nonsense	SNP	0.203	T
CSMD1	64478	genome.wustl.edu	37	8	3141850	3141850	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:3141850G>T	ENST00000520002.1	-	27	4527	c.3972C>A	c.(3970-3972)ttC>ttA	p.F1324L	CSMD1_ENST00000542608.1_Missense_Mutation_p.F1323L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602723.1_Missense_Mutation_p.F1324L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F1324L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F1323L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F1323L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F1324L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1324	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.F1052F(1)|p.F1323F(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTCCGTGTCGAAAACAATGA	0.552											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - coding silent(2)	large_intestine(2)											75.0	78.0	77.0					8																	3141850		2112	4227	6339	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3972C>A	8.37:g.3141850G>T	ENSP00000430733:p.Phe1324Leu	Somatic	608	WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F1324L	ENST00000520002.1	37	c.3972		8	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499629	0.64298	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.12	-8.22	0.01037	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36635	0.0974	M	0.73962	2.25	0.50171	D	0.999859	D;P;D	0.76494	0.998;0.778;0.999	D;P;D	0.91635	0.994;0.613;0.999	T	0.57705	-0.7765	10	0.62326	D	0.03	.	12.689	0.56964	0.5819:0.0:0.4181:0.0	.	1324;1324;1324	E5RIG2;Q96PZ7;Q96PZ7-4	.;CSMD1_HUMAN;.	L	1324;1324;1186;1323;1323;1323	ENSP00000383047:F1324L;ENSP00000430733:F1324L;ENSP00000441462:F1323L;ENSP00000446243:F1323L;ENSP00000441675:F1323L	ENSP00000320445:F1186L	F	-	3	2	CSMD1	3129257	1.000000	0.71417	0.542000	0.28115	0.649000	0.38597	1.478000	0.35442	-1.529000	0.01754	-1.008000	0.02478	TTC	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3141850	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.934	T
CSMD2	114784	genome.wustl.edu	37	1	34049381	34049381	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:34049381C>G	ENST00000373381.4	-	47	7277	c.7101G>C	c.(7099-7101)ctG>ctC	p.L2367L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2369	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCTCTGGCTCAGGATCACGC	0.527																																																	0													98.0	95.0	96.0					1																	34049381		2203	4300	6503	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7101G>C	1.37:g.34049381C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2367	ENST00000373381.4	37	c.7101		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.527	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		C	NM_052896		34049381	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	0.994	G
CSNK1G3	1456	genome.wustl.edu	37	5	122909098	122909098	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:122909098C>G	ENST00000361991.2	+	4	331	c.301C>G	c.(301-303)Caa>Gaa	p.Q101E	CSNK1G3_ENST00000360683.2_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.Q26E|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000345990.4_Missense_Mutation_p.Q101E|CSNK1G3_ENST00000511130.2_5'UTR			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TGGTATACCTCAAGTTTACTA	0.338																																					Pancreas(187;2868 2964 4353 6297)												0													163.0	155.0	158.0					5																	122909098		2203	4300	6503	SO:0001583	missense	1456			AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.301C>G	5.37:g.122909098C>G	ENSP00000354942:p.Gln101Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Casein_kinase-1_gamma_C,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.Q101E	ENST00000361991.2	37	c.301	CCDS4135.1	5	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859367	0.51376	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000512718;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	4.9	4.9	0.64082	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	T	0.16981	0.0408	N	0.21617	0.685	0.80722	D	1	B;B;B;B;B	0.20261	0.002;0.006;0.043;0.006;0.043	B;B;B;B;B	0.24541	0.011;0.024;0.054;0.04;0.054	T	0.06991	-1.0796	10	0.19147	T	0.46	.	18.5808	0.91170	0.0:1.0:0.0:0.0	.	26;101;101;101;101	B4DSH2;A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;.;KC1G3_HUMAN;.	E	101;101;101;26;101;101;101;101	ENSP00000378807:Q101E;ENSP00000378806:Q101E;ENSP00000334735:Q101E;ENSP00000421998:Q26E;ENSP00000429412:Q101E;ENSP00000423838:Q101E;ENSP00000354942:Q101E;ENSP00000353904:Q101E	ENSP00000334735:Q101E	Q	+	1	0	CSNK1G3	122936997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.740000	0.84986	2.634000	0.89283	0.655000	0.94253	CAA	CSNK1G3	-	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		0.338	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSNK1G3	HGNC	protein_coding	OTTHUMT00000250900.1	C	NM_004384		122909098	+1	no_errors	ENST00000360683	ensembl	human	known	70_37	missense	SNP	1.000	G
CSPG4	1464	genome.wustl.edu	37	15	75981682	75981682	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:75981682G>A	ENST00000308508.5	-	3	1816	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	575	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2. {ECO:0000250}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAAACCTCAGGCCCCAGCGG	0.627																																																	0													29.0	32.0	31.0					15																	75981682		2196	4292	6488	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.1724C>T	15.37:g.75981682G>A	ENSP00000312506:p.Pro575Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.P575L	ENST00000308508.5	37	c.1724	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	.	10.74	1.436033	0.25813	.	.	ENSG00000173546	ENST00000308508	T	0.19532	2.14	5.35	5.35	0.76521	.	0.180091	0.38663	N	0.001613	T	0.44074	0.1276	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.34725	-0.9817	10	0.62326	D	0.03	.	13.4418	0.61117	0.0782:0.0:0.9218:0.0	.	575	Q6UVK1	CSPG4_HUMAN	L	575	ENSP00000312506:P575L	ENSP00000312506:P575L	P	-	2	0	CSPG4	73768737	1.000000	0.71417	0.942000	0.38095	0.053000	0.15095	4.574000	0.60900	2.498000	0.84270	0.555000	0.69702	CCT	CSPG4	-	NULL		0.627	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	G	NM_001897		75981682	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	0.998	A
CTSA	5476	genome.wustl.edu	37	20	44521502	44521502	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:44521502C>T	ENST00000372459.2	+	5	776	c.583C>T	c.(583-585)Ccc>Tcc	p.P195S	CTSA_ENST00000354880.5_Missense_Mutation_p.P196S|CTSA_ENST00000191018.5_Missense_Mutation_p.P195S|RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372484.3_Missense_Mutation_p.P213S|NEURL2_ENST00000372518.4_5'Flank			P10619	PPGB_HUMAN	cathepsin A	195					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CATGCAGGATCCCAGCATGAA	0.557																																																	0													48.0	46.0	47.0					20																	44521502		2203	4300	6503	SO:0001583	missense	5476			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.583C>T	20.37:g.44521502C>T	ENSP00000361537:p.Pro195Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.P213S	ENST00000372459.2	37	c.637	CCDS46609.1	20	.	.	.	.	.	.	.	.	.	.	C	2.360	-0.346932	0.05208	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.15	2.09	0.27110	.	0.336917	0.35179	N	0.003396	T	0.70885	0.3275	L	0.33668	1.02	0.37455	D	0.914974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.56595	-0.7953	10	0.08381	T	0.77	-9.6959	5.7972	0.18394	0.0:0.6349:0.1399:0.2252	.	195;195;212	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	S	196;213;195;178;195	ENSP00000346952:P196S;ENSP00000361562:P213S;ENSP00000191018:P195S;ENSP00000408533:P178S;ENSP00000361537:P195S	ENSP00000191018:P195S	P	+	1	0	CTSA	43954909	0.002000	0.14202	0.970000	0.41538	0.989000	0.77384	-0.033000	0.12246	0.175000	0.19841	0.609000	0.83330	CCC	CTSA	-	pfam_Peptidase_S10		0.557	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	HGNC	protein_coding	OTTHUMT00000471297.2	C	NM_000308		44521502	+1	no_errors	ENST00000372484	ensembl	human	known	70_37	missense	SNP	0.897	T
CTSD	1509	genome.wustl.edu	37	11	1780778	1780778	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:1780778G>C	ENST00000236671.2	-	3	452	c.320C>G	c.(319-321)tCc>tGc	p.S107C	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_5'Flank	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAGTGGATGGAGGGGACCCA	0.657																																																	0													72.0	69.0	70.0					11																	1780778		2202	4299	6501	SO:0001583	missense	1509			M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.320C>G	11.37:g.1780778G>C	ENSP00000236671:p.Ser107Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IB57	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.S107C	ENST00000236671.2	37	c.320	CCDS7725.1	11	.	.	.	.	.	.	.	.	.	.	g	18.04	3.533846	0.64972	.	.	ENSG00000117984	ENST00000236671;ENST00000438213;ENST00000367196	T;T;T	0.62105	0.22;0.05;0.23	4.2	4.2	0.49525	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.063133	0.64402	D	0.000003	D	0.85579	0.5729	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91038	0.4869	10	0.87932	D	0	.	16.9432	0.86224	0.0:0.0:1.0:0.0	.	107	P07339	CATD_HUMAN	C	107;92;72	ENSP00000236671:S107C;ENSP00000415036:S92C;ENSP00000356164:S72C	ENSP00000236671:S107C	S	-	2	0	CTSD	1737354	1.000000	0.71417	0.888000	0.34837	0.244000	0.25665	8.747000	0.91610	2.061000	0.61500	0.486000	0.48141	TCC	CTSD	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.657	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSD	HGNC	protein_coding	OTTHUMT00000104272.5	G	NM_001909		1780778	-1	no_errors	ENST00000236671	ensembl	human	known	70_37	missense	SNP	0.999	C
CTSH	1512	genome.wustl.edu	37	15	79217722	79217722	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:79217722C>G	ENST00000220166.5	-	10	869	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	254					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TGAGTCACCTCAAAGGCAAAG	0.572																																																	0													106.0	81.0	90.0					15																	79217722		2196	4293	6489	SO:0001583	missense	1512			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.760G>C	15.37:g.79217722C>G	ENSP00000220166:p.Glu254Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK0|Q96NY6|Q9BUM7	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E254Q	ENST00000220166.5	37	c.760	CCDS10308.1	15	.	.	.	.	.	.	.	.	.	.	C	15.56	2.869752	0.51588	.	.	ENSG00000103811	ENST00000220166;ENST00000394758	T	0.22743	1.94	5.25	5.25	0.73442	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.26231	0.0640	N	0.21324	0.655	0.53005	D	0.999964	D;D	0.63046	0.992;0.977	P;P	0.54965	0.765;0.765	T	0.02009	-1.1230	10	0.72032	D	0.01	.	14.3354	0.66586	0.0:1.0:0.0:0.0	.	254;242	P09668;E9PBP2	CATH_HUMAN;.	Q	254;242	ENSP00000220166:E254Q	ENSP00000220166:E254Q	E	-	1	0	CTSH	77004777	0.993000	0.37304	0.999000	0.59377	0.541000	0.35023	2.885000	0.48570	2.465000	0.83290	0.467000	0.42956	GAG	CTSH	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.572	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	C	NM_004390		79217722	-1	no_errors	ENST00000220166	ensembl	human	known	70_37	missense	SNP	1.000	G
CTSH	1512	genome.wustl.edu	37	15	79237225	79237225	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:79237225C>T	ENST00000220166.5	-	1	201					NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						GGCGCGCCCTCTGCGTACCTA	0.701																																																	0													11.0	12.0	12.0					15																	79237225		1874	3711	5585	SO:0001627	intron_variant	1512			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.91+7G>A	15.37:g.79237225C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK0|Q96NY6|Q9BUM7	Silent	SNP	NULL	p.Q33	ENST00000220166.5	37	c.99	CCDS10308.1	15																																																																																			CTSH	-	NULL		0.701	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	C	NM_004390		79237225	-1	no_errors	ENST00000529861	ensembl	human	known	70_37	silent	SNP	0.042	T
CUL2	8453	genome.wustl.edu	37	10	35328007	35328007	+	Silent	SNP	G	G	A	rs1131504		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:35328007G>A	ENST00000374748.1	-	10	1031	c.718C>T	c.(718-720)Cta>Tta	p.L240L	CUL2_ENST00000374742.1_Silent_p.L240L|CUL2_ENST00000374751.3_Silent_p.L240L|CUL2_ENST00000374746.1_Silent_p.L240L|CUL2_ENST00000374749.3_Silent_p.L240L|CUL2_ENST00000537177.1_Silent_p.L259L|CUL2_ENST00000602371.1_Silent_p.L183L			Q13617	CUL2_HUMAN	cullin 2	240					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AATCTACCTAGAACCTATAAA	0.318																																																	0													64.0	61.0	62.0					10																	35328007		2202	4294	6496	SO:0001819	synonymous_variant	8453			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.718C>T	10.37:g.35328007G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L259	ENST00000374748.1	37	c.775	CCDS7179.1	10																																																																																			CUL2	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.318	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	G	NM_003591		35328007	-1	no_errors	ENST00000537177	ensembl	human	known	70_37	silent	SNP	1.000	A
SYNGAP1	8831	genome.wustl.edu	37	6	33385937	33385937	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33385937G>A	ENST00000418600.2	+	0	0				CUTA_ENST00000488034.1_5'Flank|CUTA_ENST00000440279.3_5'Flank|CUTA_ENST00000374500.5_Missense_Mutation_p.S9F|CUTA_ENST00000374496.3_5'Flank|CUTA_ENST00000488478.1_5'Flank|CUTA_ENST00000494751.1_5'Flank|CUTA_ENST00000492510.1_5'UTR|CUTA_ENST00000607266.1_5'Flank|SYNGAP1_ENST00000293748.5_5'Flank	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1						dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TGCGCCTCCAGAGCCAGCCAA	0.587																																																	0													67.0	72.0	70.0					6																	33385937		2203	4300	6503	SO:0001631	upstream_gene_variant	51596			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096		6.37:g.33385937G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	pfam_Ion_tolerance_CutA,superfamily_N-reg_PII-like_a/b	p.S9F	ENST00000418600.2	37	c.26	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609513	0.28623	.	.	ENSG00000112514	ENST00000374500	.	.	.	4.79	-3.08	0.05347	.	2.209690	0.01579	N	0.020975	T	0.12774	0.0310	.	.	.	0.20307	N	0.999912	B	0.06786	0.001	B	0.04013	0.001	T	0.36065	-0.9763	8	0.87932	D	0	3.3292	6.2684	0.20941	0.3347:0.401:0.2643:0.0	.	9	O60888-2	.	F	9	.	ENSP00000363624:S9F	S	-	2	0	CUTA	33493915	0.000000	0.05858	0.011000	0.14972	0.611000	0.37282	-0.344000	0.07780	-0.557000	0.06126	0.563000	0.77884	TCT	CUTA	-	NULL		0.587	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUTA	HGNC	protein_coding	OTTHUMT00000076151.4	G	XM_166407		33385937	-1	no_errors	ENST00000374500	ensembl	human	known	70_37	missense	SNP	0.000	A
CUX1	1523	genome.wustl.edu	37	7	101740715	101740715	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:101740715G>A	ENST00000292535.7	+	5	378	c.340G>A	c.(340-342)Gag>Aag	p.E114K	CUX1_ENST00000547394.2_Missense_Mutation_p.E109K|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292538.4_Missense_Mutation_p.E125K|CUX1_ENST00000556210.1_Missense_Mutation_p.E114K|CUX1_ENST00000393824.3_Missense_Mutation_p.E88K|CUX1_ENST00000437600.4_Missense_Mutation_p.E125K|CUX1_ENST00000549414.2_Missense_Mutation_p.E114K|CUX1_ENST00000550008.2_Missense_Mutation_p.E114K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.E114K|CUX1_ENST00000360264.3_Missense_Mutation_p.E125K	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	114					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TATTGAAACAGAGAACCAGAA	0.448																																																	0													95.0	98.0	97.0					7																	101740715		2203	4300	6503	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.340G>A	7.37:g.101740715G>A	ENSP00000292535:p.Glu114Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.E125K	ENST00000292535.7	37	c.373	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.846256	0.97016	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T	0.77489	0.99;0.99;0.99;0.99;0.99;-1.1;0.99;0.99;0.99	6.06	6.06	0.98353	.	0.120742	0.56097	D	0.000033	D	0.84995	0.5596	L	0.43923	1.385	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.997;0.999;0.998;0.959;0.998	P;D;D;D;P;D	0.80764	0.877;0.985;0.988;0.991;0.556;0.994	D	0.85000	0.0899	10	0.66056	D	0.02	-36.5833	18.8014	0.92018	0.0:0.0:1.0:0.0	.	88;114;109;125;125;125	B4DZZ2;P39880;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;CASP_HUMAN;.	K	125;109;125;125;125;114;114;114;114;114	ENSP00000292538:E125K;ENSP00000449371:E109K;ENSP00000353401:E125K;ENSP00000414091:E125K;ENSP00000292535:E114K;ENSP00000446630:E114K;ENSP00000447373:E114K;ENSP00000450125:E114K;ENSP00000451558:E114K	ENSP00000292535:E114K	E	+	1	0	CUX1	101527435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.103000	0.94232	2.882000	0.98803	0.655000	0.94253	GAG	CUX1	-	NULL		0.448	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913		101740715	+1	no_errors	ENST00000360264	ensembl	human	known	70_37	missense	SNP	1.000	A
CUX2	23316	genome.wustl.edu	37	12	111785986	111785986	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:111785986G>A	ENST00000261726.6	+	22	4472	c.4318G>A	c.(4318-4320)Gac>Aac	p.D1440N		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1440					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCCACTGCTGACATGGCTGG	0.602																																																	0													69.0	76.0	74.0					12																	111785986		2002	4169	6171	SO:0001583	missense	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.4318G>A	12.37:g.111785986G>A	ENSP00000261726:p.Asp1440Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2Y4	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D1440N	ENST00000261726.6	37	c.4318	CCDS41837.1	12	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374678	0.11409	.	.	ENSG00000111249	ENST00000261726	T	0.45276	0.9	5.58	3.76	0.43208	.	0.277249	0.34223	N	0.004148	T	0.35998	0.0951	L	0.51422	1.61	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.19031	-1.0318	10	0.25106	T	0.35	-26.7725	12.5746	0.56357	0.1051:0.0:0.8949:0.0	.	1440	O14529	CUX2_HUMAN	N	1440	ENSP00000261726:D1440N	ENSP00000261726:D1440N	D	+	1	0	CUX2	110270369	0.008000	0.16893	0.172000	0.22920	0.096000	0.18686	1.410000	0.34691	0.721000	0.32231	0.655000	0.94253	GAC	CUX2	-	NULL		0.602	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	G	NM_015267		111785986	+1	no_errors	ENST00000261726	ensembl	human	known	70_37	missense	SNP	0.105	A
CWC15	51503	genome.wustl.edu	37	11	94703170	94703170	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:94703170C>G	ENST00000279839.6	-	5	546	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein	142					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCTGCTCTTCAGCTCTTTCT	0.318																																																	0													93.0	87.0	88.0					11																	94703170		1801	4070	5871	SO:0001583	missense	51503			AF161497	CCDS73369.1	11q21	2014-07-03	2014-07-03			ENSG00000150316			26939	protein-coding gene	gene with protein product			"""CWC15 homolog (S. cerevisiae)"", ""CWC15 spliceosome-associated protein homolog (S. cerevisiae)"""			10873569, 11884590	Standard	NM_016403		Approved	C11orf5, HSPC148, Cwf15, AD002	uc001pfd.4	Q9P013		ENST00000279839.6:c.424G>C	11.37:g.94703170C>G	ENSP00000475615:p.Glu142Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC17|Q05BV9|Q05DM1|Q9UI29	RNA	SNP	-	NULL	ENST00000279839.6	37	NULL		11																																																																																			CWC15	-	-		0.318	CWC15-201	KNOWN	basic|appris_principal	protein_coding	CWC15	HGNC	protein_coding		C	NM_016403		94703170	-1	no_errors	ENST00000279839	ensembl	human	known	70_37	rna	SNP	1.000	G
CXADRP3	440224	genome.wustl.edu	37	18	14479303	14479303	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:14479303C>T	ENST00000581457.1	-	0	605					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CTGAGGTAGGCGGCTCTCGCT	0.567																																																	0																																												440224					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479303C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-		0.567	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	C	NR_024076		14479303	-1	no_errors	ENST00000581457	ensembl	human	known	70_37	rna	SNP	0.821	T
CXorf23	256643	genome.wustl.edu	37	X	19935399	19935399	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:19935399C>T	ENST00000379682.4	-	0	2193				CXorf23_ENST00000451208.1_5'Flank|CXorf23_ENST00000379687.3_3'UTR			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23							mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CCTGTAGCGTCATTTCCATTT	0.353																																																	0													263.0	242.0	249.0					X																	19935399		2203	4300	6503	SO:0001624	3_prime_UTR_variant	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.*24G>A	X.37:g.19935399C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	RNA	SNP	-	NULL	ENST00000379682.4	37	NULL		X																																																																																			CXorf23	-	-		0.353	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	C	NM_198279		19935399	-1	no_errors	ENST00000466702	ensembl	human	known	70_37	rna	SNP	0.000	T
CXorf22	170063	genome.wustl.edu	37	X	35966468	35966468	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:35966468C>T	ENST00000297866.5	+	4	621	c.555C>T	c.(553-555)atC>atT	p.I185I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	185										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTACCCATCCTCATTTTTC	0.403																																																	0													207.0	163.0	178.0					X																	35966468		2202	4300	6502	SO:0001819	synonymous_variant	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.555C>T	X.37:g.35966468C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRM8|Q8N6X8	Silent	SNP	superfamily_PapD-like	p.I185	ENST00000297866.5	37	c.555	CCDS14237.2	X																																																																																			CXorf22	-	superfamily_PapD-like		0.403	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	C	NM_152632		35966468	+1	no_errors	ENST00000297866	ensembl	human	known	70_37	silent	SNP	0.004	T
CXorf57	55086	genome.wustl.edu	37	X	105876458	105876458	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:105876458G>A	ENST00000372548.4	+	6	1388	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	CXorf57_ENST00000372544.2_Missense_Mutation_p.E427K	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	427							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCGCAGCCAGAAATCTTTGA	0.323																																																	0													53.0	51.0	52.0					X																	105876458		2203	4299	6502	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1279G>A	X.37:g.105876458G>A	ENSP00000361628:p.Glu427Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.E427K	ENST00000372548.4	37	c.1279	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723017	0.68959	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.50001	0.81;0.76;0.85	4.45	3.58	0.41010	.	0.269301	0.41605	N	0.000843	T	0.55609	0.1931	L	0.54323	1.7	0.34051	D	0.656087	D;D;D	0.54964	0.969;0.969;0.969	P;P;P	0.55011	0.766;0.703;0.723	T	0.69420	-0.5150	10	0.56958	D	0.05	-11.1943	12.9726	0.58522	0.0:0.1605:0.8395:0.0	.	427;427;427	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	K	427;427;235	ENSP00000361623:E427K;ENSP00000361628:E427K;ENSP00000405866:E235K	ENSP00000361623:E427K	E	+	1	0	CXorf57	105763114	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.233000	0.89799	0.963000	0.38082	0.594000	0.82650	GAA	CXorf57	-	NULL		0.323	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	G	NM_018015		105876458	+1	no_errors	ENST00000372548	ensembl	human	known	70_37	missense	SNP	1.000	A
CXorf57	55086	genome.wustl.edu	37	X	105881224	105881224	+	Intron	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:105881224T>A	ENST00000372548.4	+	8	1682				CXorf57_ENST00000372544.2_Intron|MIR548AN_ENST00000408286.2_RNA	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57								poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CTATTTCAATTAGTCATCTTT	0.284																																																	0																																										SO:0001627	intron_variant	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1573+70T>A	X.37:g.105881224T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Nonsense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.L548*	ENST00000372548.4	37	c.1643	CCDS14519.1	X																																																																																			CXorf57	-	NULL		0.284	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	T	NM_018015		105881224	+1	no_errors	ENST00000461251	ensembl	human	known	70_37	nonsense	SNP	0.005	A
CYBRD1	79901	genome.wustl.edu	37	2	172378866	172378866	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:172378866G>C	ENST00000321348.4	+	0	9				CYBRD1_ENST00000409484.1_Intron|CYBRD1_ENST00000375252.3_5'Flank|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1						cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GCCCATTTCTGAGTTGGGGCC	0.697																																																	0																																										SO:0001623	5_prime_UTR_variant	79901			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"""Cytochrome b genes"""	20797	protein-coding gene	gene with protein product	"""ferric-chelate reductase 3"", ""cytochrome b561 family, member A2"""	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.-190G>C	2.37:g.172378866G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	RNA	SNP	-	NULL	ENST00000321348.4	37	NULL	CCDS2244.1	2																																																																																			CYBRD1	-	-		0.697	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	HGNC	protein_coding	OTTHUMT00000255344.2	G	NM_024843		172378866	+1	no_errors	ENST00000468308	ensembl	human	known	70_37	rna	SNP	0.002	C
CYP17A1	1586	genome.wustl.edu	37	10	104597060	104597060	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104597060C>T	ENST00000369887.3	-	1	230	c.59G>A	c.(58-60)aGa>aAa	p.R20K	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	20					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	AGGGCACCTTCTCTTGGGCCA	0.582																																																	0													68.0	69.0	68.0					10																	104597060		2203	4300	6503	SO:0001583	missense	1586			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.59G>A	10.37:g.104597060C>T	ENSP00000358903:p.Arg20Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R20K	ENST00000369887.3	37	c.59	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	C	4.712	0.132342	0.08981	.	.	ENSG00000148795	ENST00000369887	T	0.70631	-0.5	5.37	-10.7	0.00240	.	4.158540	0.00496	N	0.000145	T	0.39200	0.1069	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.37150	-0.9718	10	0.06757	T	0.87	.	4.836	0.13466	0.0834:0.3201:0.3604:0.236	.	20	P05093	CP17A_HUMAN	K	20	ENSP00000358903:R20K	ENSP00000358903:R20K	R	-	2	0	CYP17A1	104587050	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	-0.452000	0.06787	-3.457000	0.00159	-0.521000	0.04368	AGA	CYP17A1	-	NULL		0.582	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	C	NM_000102		104597060	-1	no_errors	ENST00000369887	ensembl	human	known	70_37	missense	SNP	0.000	T
CYP24A1	1591	genome.wustl.edu	37	20	52774666	52774666	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:52774666C>G	ENST00000216862.3	-	9	1588	c.1195G>C	c.(1195-1197)Gac>Cac	p.D399H	CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D257H|CYP24A1_ENST00000395955.3_Missense_Mutation_p.D399H	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	399					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)	p.D399N(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GTTGCCTTGTCAAGAGTCCGA	0.378																																																	1	Substitution - Missense(1)	lung(1)											89.0	86.0	87.0					20																	52774666		2203	4300	6503	SO:0001583	missense	1591			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1195G>C	20.37:g.52774666C>G	ENSP00000216862:p.Asp399His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D399H	ENST00000216862.3	37	c.1195	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746942	0.89663	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.68331	-0.32;-0.32;-0.32	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.81264	0.4786	M	0.66439	2.03	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.996	T	0.81389	-0.0955	10	0.54805	T	0.06	-22.0998	18.6106	0.91284	0.0:1.0:0.0:0.0	.	399;399;257	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	H	399;399;257	ENSP00000216862:D399H;ENSP00000379285:D399H;ENSP00000379284:D257H	ENSP00000216862:D399H	D	-	1	0	CYP24A1	52208073	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.581000	0.60949	2.630000	0.89119	0.655000	0.94253	GAC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.378	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	C			52774666	-1	no_errors	ENST00000216862	ensembl	human	known	70_37	missense	SNP	1.000	G
CYP2A6	1548	genome.wustl.edu	37	19	41354584	41354584	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:41354584C>G	ENST00000301141.5	-	3	448	c.428G>C	c.(427-429)cGa>cCa	p.R143P	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	143					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTCGATGCCTCGCTTGCCCAC	0.701																																																	0													38.0	41.0	40.0					19																	41354584		2203	4299	6502	SO:0001583	missense	1548			AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.428G>C	19.37:g.41354584C>G	ENSP00000301141:p.Arg143Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R143P	ENST00000301141.5	37	c.428	CCDS12568.1	19	.	.	.	.	.	.	.	.	.	.	-	14.07	2.424445	0.43020	.	.	ENSG00000255974	ENST00000301141	T	0.01414	4.92	2.95	1.85	0.25348	.	0.058520	0.64402	U	0.000006	T	0.02193	0.0068	M	0.61703	1.905	0.09310	N	0.999998	B	0.34255	0.445	B	0.37015	0.239	T	0.34625	-0.9821	10	0.87932	D	0	.	7.111	0.25390	0.0:0.7641:0.0:0.2359	.	143	P11509	CP2A6_HUMAN	P	143	ENSP00000301141:R143P	ENSP00000301141:R143P	R	-	2	0	CYP2A6	46046424	0.000000	0.05858	0.364000	0.25888	0.342000	0.28953	0.273000	0.18662	1.487000	0.48415	0.386000	0.25728	CGA	CYP2A6	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.701	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A6	HGNC	protein_coding	OTTHUMT00000463259.1	C	NM_000762		41354584	-1	no_errors	ENST00000301141	ensembl	human	known	70_37	missense	SNP	0.135	G
FAR2P1	440905	genome.wustl.edu	37	2	130807424	130807424	+	RNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:130807424C>G	ENST00000325390.3	-	0	1280					NR_026758.1																						CTGGGGACCTCTTGCTGTTCT	0.493																																																	0																																												646802																															2.37:g.130807424C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000325390.3	37	NULL		2																																																																																			AC018865.8	-	-		0.493	AC018865.8-002	KNOWN	basic	processed_transcript	CYP4F43P	Clone_based_vega_gene	pseudogene	OTTHUMT00000331630.3	C			130807424	-1	no_errors	ENST00000325390	ensembl	human	known	70_37	rna	SNP	0.018	G
CYP7A1	1581	genome.wustl.edu	37	8	59404293	59404293	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:59404293G>C	ENST00000301645.3	-	6	1393	c.1256C>G	c.(1255-1257)aCa>aGa	p.T419R		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	419					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGTAGTCTTTGTCTTCCCGTT	0.343									Neonatal Giant Cell Hepatitis																																								0													103.0	113.0	109.0					8																	59404293		2203	4300	6503	SO:0001583	missense	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1256C>G	8.37:g.59404293G>C	ENSP00000301645:p.Thr419Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.T419R	ENST00000301645.3	37	c.1256	CCDS6171.1	8	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318407	0.40996	.	.	ENSG00000167910	ENST00000301645	T	0.61158	0.13	5.76	4.88	0.63580	.	0.298471	0.40469	N	0.001089	T	0.38321	0.1036	N	0.20357	0.565	0.31578	N	0.655457	B	0.30439	0.279	B	0.29862	0.108	T	0.43653	-0.9378	10	0.23891	T	0.37	-3.4054	8.2146	0.31503	0.0782:0.0:0.669:0.2528	.	419	P22680	CP7A1_HUMAN	R	419	ENSP00000301645:T419R	ENSP00000301645:T419R	T	-	2	0	CYP7A1	59566847	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	5.790000	0.69038	1.569000	0.49696	0.655000	0.94253	ACA	CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.343	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	G	NM_000780		59404293	-1	no_errors	ENST00000301645	ensembl	human	known	70_37	missense	SNP	1.000	C
DCAF12L2	340578	genome.wustl.edu	37	X	125298775	125298775	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:125298775C>T	ENST00000360028.2	-	1	1159	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R378H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	378								p.R378H(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTTCTGGGCGCGGATGTCATA	0.642																																																	2	Substitution - Missense(2)	endometrium(2)											64.0	69.0	67.0					X																	125298775		2201	4299	6500	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1133G>A	X.37:g.125298775C>T	ENSP00000353128:p.Arg378His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R378H	ENST00000360028.2	37	c.1133	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533433	0.64972	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64618	-0.11;-0.11	3.94	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36740	N	0.002424	T	0.78972	0.4368	M	0.83774	2.66	0.45439	D	0.998418	D	0.89917	1.0	D	0.85130	0.997	T	0.81767	-0.0782	10	0.59425	D	0.04	.	12.9441	0.58364	0.0:1.0:0.0:0.0	.	378	Q5VW00	DC122_HUMAN	H	378	ENSP00000441489:R378H;ENSP00000353128:R378H	ENSP00000353128:R378H	R	-	2	0	DCAF12L2	125126456	1.000000	0.71417	0.315000	0.25238	0.566000	0.35808	6.257000	0.72480	2.213000	0.71641	0.600000	0.82982	CGC	DCAF12L2	-	superfamily_WD40_repeat_dom		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	C	NM_001013628		125298775	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	missense	SNP	0.996	T
DCAF12L2	340578	genome.wustl.edu	37	X	125299005	125299005	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:125299005G>A	ENST00000360028.2	-	1	929	c.903C>T	c.(901-903)atC>atT	p.I301I	DCAF12L2_ENST00000538699.1_Silent_p.I301I			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	301										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGGGCAGCCTGATGGACAGGA	0.602																																																	0													96.0	100.0	99.0					X																	125299005		2203	4300	6503	SO:0001819	synonymous_variant	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.903C>T	X.37:g.125299005G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN42	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I301	ENST00000360028.2	37	c.903	CCDS43991.1	X																																																																																			DCAF12L2	-	superfamily_WD40_repeat_dom		0.602	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	G	NM_001013628		125299005	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	silent	SNP	0.885	A
DCDC2	51473	genome.wustl.edu	37	6	24289099	24289099	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:24289099G>A	ENST00000378454.3	-	6	1041	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	247					cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AGACTTTCTGGATCCTACAAT	0.338																																																	0													116.0	111.0	112.0					6																	24289099		2203	4300	6503	SO:0001583	missense	51473			AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.740C>T	6.37:g.24289099G>A	ENSP00000367715:p.Ser247Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S247F	ENST00000378454.3	37	c.740	CCDS4550.1	6	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098513	0.37048	.	.	ENSG00000146038	ENST00000378454	T	0.02737	4.18	5.88	5.88	0.94601	.	0.233665	0.46758	D	0.000272	T	0.01800	0.0057	L	0.49126	1.545	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.49952	-0.8884	10	0.34782	T	0.22	0.3519	13.0984	0.59206	0.0737:0.0:0.9263:0.0	.	247	Q9UHG0	DCDC2_HUMAN	F	247	ENSP00000367715:S247F	ENSP00000367715:S247F	S	-	2	0	DCDC2	24397078	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.763000	0.55257	2.792000	0.96026	0.557000	0.71058	TCC	DCDC2	-	NULL		0.338	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2	HGNC	protein_coding	OTTHUMT00000043604.1	G	NM_016356		24289099	-1	no_errors	ENST00000378454	ensembl	human	known	70_37	missense	SNP	1.000	A
DDB1	1642	genome.wustl.edu	37	11	61096837	61096837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:61096837G>A	ENST00000301764.7	-	4	944	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	DDB1_ENST00000545930.1_5'Flank|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	183	Interaction with CDT1.|WD repeat beta-propeller A.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAGTACCTGGTAGACAAAG	0.453								Nucleotide excision repair (NER)																																									0													118.0	115.0	116.0					11																	61096837		2203	4299	6502	SO:0001587	stop_gained	1642			AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.547C>T	11.37:g.61096837G>A	ENSP00000301764:p.Gln183*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Nonsense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Q183*	ENST00000301764.7	37	c.547	CCDS31576.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.484735	0.96323	.	.	ENSG00000167986	ENST00000301764;ENST00000539426;ENST00000535283	.	.	.	4.88	4.88	0.63580	.	0.052749	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-20.2943	18.4291	0.90619	0.0:0.0:1.0:0.0	.	.	.	.	X	183;127;127	.	ENSP00000301764:Q183X	Q	-	1	0	DDB1	60853413	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.540000	0.98080	2.416000	0.81992	0.563000	0.77884	CAG	DDB1	-	NULL		0.453	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	DDB1	HGNC	protein_coding	OTTHUMT00000398816.1	G	NM_001923		61096837	-1	no_errors	ENST00000301764	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DDIT4	54541	genome.wustl.edu	37	10	74034832	74034832	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:74034832C>T	ENST00000307365.3	+	3	786	c.585C>T	c.(583-585)tcC>tcT	p.S195S	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	195					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGTTTAGCTCCGCCAACTCTC	0.617											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	28.0	28.0					10																	74034832		2203	4300	6503	SO:0001819	synonymous_variant	54541			AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.585C>T	10.37:g.74034832C>T		Somatic	1149	WXS	Illumina HiSeq	Phase_IV	Q9H0S3	Silent	SNP	pfam_RTP801-like	p.S195	ENST00000307365.3	37	c.585	CCDS7315.1	10																																																																																			DDIT4	-	pfam_RTP801-like		0.617	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT4	HGNC	protein_coding	OTTHUMT00000048577.1	C	NM_019058		74034832	+1	no_errors	ENST00000307365	ensembl	human	known	70_37	silent	SNP	0.001	T
DDRGK1	65992	genome.wustl.edu	37	20	3183919	3183919	+	Missense_Mutation	SNP	G	G	C	rs200427055		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3183919G>C	ENST00000354488.3	-	2	292	c.235C>G	c.(235-237)Cga>Gga	p.R79G	DDRGK1_ENST00000380201.2_Missense_Mutation_p.R79G	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	79						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCTGGGCTCGACGCTGGGCC	0.706																																																	0								G	GLY/ARG	0,4398		0,0,2199	21.0	21.0	21.0		235	4.9	1.0	20		21	3,8595		0,3,4296	yes	missense	DDRGK1	NM_023935.1	125	0,3,6495	CC,CG,GG		0.0349,0.0,0.0231	possibly-damaging	79/315	3183919	3,12993	2199	4299	6498	SO:0001583	missense	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.235C>G	20.37:g.3183919G>C	ENSP00000346483:p.Arg79Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIU5|C9JSZ5|Q9BW47	Missense_Mutation	SNP	pfam_DDRGK_dom-contain	p.R79G	ENST00000354488.3	37	c.235	CCDS13050.1	20	.	.	.	.	.	.	.	.	.	.	G	21.5	4.163876	0.78226	0.0	3.49E-4	ENSG00000198171	ENST00000354488;ENST00000380213;ENST00000380201	T	0.53423	0.62	4.87	4.87	0.63330	.	0.133751	0.50627	D	0.000119	T	0.44912	0.1316	L	0.34521	1.04	0.51767	D	0.999939	P;B	0.37330	0.59;0.319	P;B	0.44732	0.459;0.078	T	0.36359	-0.9751	10	0.37606	T	0.19	-0.6396	13.8676	0.63598	0.0:0.0:1.0:0.0	.	79;79	Q96HY6-2;Q96HY6	.;DDRGK_HUMAN	G	79	ENSP00000346483:R79G	ENSP00000346483:R79G	R	-	1	2	DDRGK1	3131919	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.300000	0.51834	2.421000	0.82119	0.561000	0.74099	CGA	DDRGK1	-	NULL		0.706	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	G	NM_023935		3183919	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	missense	SNP	1.000	C
DDRGK1	65992	genome.wustl.edu	37	20	3183980	3183980	+	Silent	SNP	C	C	G	rs147853986		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3183980C>G	ENST00000354488.3	-	2	231	c.174G>C	c.(172-174)ccG>ccC	p.P58P	DDRGK1_ENST00000380201.2_Silent_p.P58P	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	58						endoplasmic reticulum (GO:0005783)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CTCCAGCTCTCGGCTCCTCAG	0.697																																																	0													12.0	14.0	13.0					20																	3183980		2197	4283	6480	SO:0001819	synonymous_variant	65992			AL121891	CCDS13050.1	20p13	2011-08-18	2008-10-03	2008-10-03	ENSG00000198171	ENSG00000198171			16110	protein-coding gene	gene with protein product	"""Dashurin"""		"""chromosome 20 open reading frame 116"""	C20orf116		20036718, 20228063, 21494687	Standard	NM_023935		Approved	dJ1187M17.3	uc002wic.3	Q96HY6	OTTHUMG00000031732	ENST00000354488.3:c.174G>C	20.37:g.3183980C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIU5|C9JSZ5|Q9BW47	Silent	SNP	pfam_DDRGK_dom-contain	p.P58	ENST00000354488.3	37	c.174	CCDS13050.1	20																																																																																			DDRGK1	-	NULL		0.697	DDRGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDRGK1	HGNC	protein_coding	OTTHUMT00000077709.2	C	NM_023935		3183980	-1	no_errors	ENST00000354488	ensembl	human	known	70_37	silent	SNP	0.299	G
DDX1	1653	genome.wustl.edu	37	2	15769775	15769775	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:15769775G>A	ENST00000381341.2	+	25	2314	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K	DDX1_ENST00000233084.3_Missense_Mutation_p.R642K			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	642	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TATAACACAAGACTCAAGGAA	0.373																																																	0													105.0	92.0	97.0					2																	15769775		2203	4300	6503	SO:0001583	missense	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1925G>A	2.37:g.15769775G>A	ENSP00000370745:p.Arg642Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DME8|B4DPN6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R642K	ENST00000381341.2	37	c.1925	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	G	11.68	1.711045	0.30322	.	.	ENSG00000079785	ENST00000381341;ENST00000233084	T;T	0.38401	1.14;1.14	5.65	5.65	0.86999	Helicase, C-terminal (1);	0.040050	0.85682	D	0.000000	T	0.17959	0.0431	N	0.03967	-0.31	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.16100	-1.0414	10	0.02654	T	1	-30.9391	19.9142	0.97043	0.0:0.0:1.0:0.0	.	642	Q92499	DDX1_HUMAN	K	642	ENSP00000370745:R642K;ENSP00000233084:R642K	ENSP00000233084:R642K	R	+	2	0	DDX1	15687226	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	4.586000	0.60984	2.941000	0.99782	0.655000	0.94253	AGA	DDX1	-	pfscan_Helicase_C		0.373	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2	G	NM_004939		15769775	+1	no_errors	ENST00000233084	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX27	55661	genome.wustl.edu	37	20	47850216	47850216	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:47850216C>T	ENST00000371764.4	+	11	1345	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	446						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCGGCCTAATCGTGAAGGAGA	0.577																																																	0													74.0	73.0	73.0					20																	47850216		2203	4300	6503	SO:0001583	missense	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1336C>T	20.37:g.47850216C>T	ENSP00000360828:p.Arg446Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.R446C	ENST00000371764.4	37	c.1336	CCDS13416.1	20	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343412	0.61073	.	.	ENSG00000124228	ENST00000371764	T	0.01665	4.7	5.97	5.01	0.66863	.	0.098803	0.64402	D	0.000002	T	0.13286	0.0322	M	0.90542	3.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.00668	-1.1618	10	0.87932	D	0	-22.1339	13.9252	0.63958	0.1581:0.8419:0.0:0.0	.	446	Q96GQ7	DDX27_HUMAN	C	446	ENSP00000360828:R446C	ENSP00000360828:R446C	R	+	1	0	DDX27	47283623	1.000000	0.71417	0.986000	0.45419	0.371000	0.29859	1.645000	0.37238	1.474000	0.48178	0.655000	0.94253	CGT	DDX27	-	NULL		0.577	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	C			47850216	+1	no_errors	ENST00000371764	ensembl	human	known	70_37	missense	SNP	1.000	T
DDX39A	10212	genome.wustl.edu	37	19	14520723	14520723	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:14520723C>T	ENST00000242776.4	-	7	834				CTC-548K16.5_ENST00000590626.1_RNA|DDX39A_ENST00000592927.1_Intron|DDX39A_ENST00000454233.2_Silent_p.*268*	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A						mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						GGGCAGGGATCACCTCTGGGC	0.617																																																	0													51.0	49.0	50.0					19																	14520723		2203	4300	6503	SO:0001627	intron_variant	10212			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.733-38G>A	19.37:g.14520723C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5M0|Q9BVP6|Q9H5W0	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif	p.*268	ENST00000242776.4	37	c.803	CCDS12308.1	19																																																																																			DDX39A	-	NULL		0.617	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	C	NM_138998		14520723	-1	no_errors	ENST00000454233	ensembl	human	known	70_37	silent	SNP	0.663	T
DDX46	9879	genome.wustl.edu	37	5	134143547	134143547	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:134143547G>C	ENST00000354283.4	+	16	2199	c.2064G>C	c.(2062-2064)ctG>ctC	p.L688L	DDX46_ENST00000452510.2_Silent_p.L688L			Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	688	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAAACATCTGATTCTTGTAG	0.408																																					Colon(13;391 453 4901 21675 24897)												0													78.0	79.0	79.0					5																	134143547		2203	4300	6503	SO:0001819	synonymous_variant	9879				CCDS34240.1, CCDS75306.1	5q31.1	2010-01-25			ENSG00000145833	ENSG00000145833		"""DEAD-boxes"""	18681	protein-coding gene	gene with protein product							Standard	XM_005272142		Approved	KIAA0801, FLJ25329, PRPF5, Prp5	uc003kzw.3	Q7L014	OTTHUMG00000163072	ENST00000354283.4:c.2064G>C	5.37:g.134143547G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O94894|Q96EI0|Q9Y658	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.L688	ENST00000354283.4	37	c.2064	CCDS34240.1	5																																																																																			DDX46	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.408	DDX46-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX46	HGNC	protein_coding	OTTHUMT00000371584.1	G	NM_014829		134143547	+1	no_errors	ENST00000452510	ensembl	human	known	70_37	silent	SNP	0.831	C
DDX60	55601	genome.wustl.edu	37	4	169169377	169169377	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:169169377G>C	ENST00000393743.3	-	29	4216	c.3925C>G	c.(3925-3927)Caa>Gaa	p.Q1309E		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1309	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACTGAGTTTTGAGCAAAAACC	0.353																																																	0													125.0	117.0	119.0					4																	169169377		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3925C>G	4.37:g.169169377G>C	ENSP00000377344:p.Gln1309Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1309E	ENST00000393743.3	37	c.3925	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	G	4.897	0.166631	0.09339	.	.	ENSG00000137628	ENST00000393743	T	0.74947	-0.89	4.84	1.87	0.25490	Helicase, C-terminal (3);	0.224103	0.31601	N	0.007376	T	0.51176	0.1659	N	0.04132	-0.27	0.29740	N	0.837195	P	0.38827	0.649	B	0.36030	0.216	T	0.50259	-0.8849	10	0.21540	T	0.41	.	16.4981	0.84250	0.0:0.487:0.513:0.0	.	1309	Q8IY21	DDX60_HUMAN	E	1309	ENSP00000377344:Q1309E	ENSP00000377344:Q1309E	Q	-	1	0	DDX60	169405952	0.459000	0.25768	0.975000	0.42487	0.929000	0.56500	0.471000	0.22100	0.579000	0.29504	0.557000	0.71058	CAA	DDX60	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.353	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	G	NM_017631		169169377	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.997	C
DDX60	55601	genome.wustl.edu	37	4	169197246	169197246	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:169197246C>G	ENST00000393743.3	-	15	2356	c.2065G>C	c.(2065-2067)Gaa>Caa	p.E689Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	689					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CGATCATCTTCTTGTAAAAGT	0.363																																																	0													138.0	135.0	136.0					4																	169197246		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2065G>C	4.37:g.169197246C>G	ENSP00000377344:p.Glu689Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E689Q	ENST00000393743.3	37	c.2065	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541619	0.27563	.	.	ENSG00000137628	ENST00000393743	T	0.18657	2.2	5.15	4.06	0.47325	.	0.229752	0.32785	N	0.005658	T	0.19604	0.0471	M	0.69823	2.125	0.30892	N	0.730198	P	0.51791	0.948	B	0.42555	0.391	T	0.13388	-1.0511	10	0.23891	T	0.37	.	4.0156	0.09642	0.0:0.6644:0.0:0.3356	.	689	Q8IY21	DDX60_HUMAN	Q	689	ENSP00000377344:E689Q	ENSP00000377344:E689Q	E	-	1	0	DDX60	169433821	0.999000	0.42202	0.994000	0.49952	0.129000	0.20672	1.804000	0.38873	2.560000	0.86352	0.557000	0.71058	GAA	DDX60	-	NULL		0.363	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169197246	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.992	G
DEFB1	1672	genome.wustl.edu	37	8	6735347	6735347	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:6735347G>C	ENST00000297439.3	-	1	197	c.33C>G	c.(31-33)ctC>ctG	p.L11L		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	11					acute inflammatory response (GO:0002526)|antibacterial humoral response (GO:0019731)|chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|response to bacterium (GO:0009617)|response to testosterone (GO:0033574)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		AAAGTAAGCAGAGAGTAAACA	0.547																																					Pancreas(35;916 948 9612 33610 36642)												0													108.0	93.0	98.0					8																	6735347		2203	4300	6503	SO:0001819	synonymous_variant	1672			X92744	CCDS5959.1	8p23.1	2012-03-27			ENSG00000164825	ENSG00000164825		"""Defensins, beta"""	2766	protein-coding gene	gene with protein product		602056				7628632	Standard	NM_005218		Approved	HBD-1, DEFB-1, DEFB101, HBD1, BD1, MGC51822	uc003wqs.2	P60022	OTTHUMG00000090367	ENST00000297439.3:c.33C>G	8.37:g.6735347G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q09753	Silent	SNP	pfam_Defensin_beta-typ	p.L11	ENST00000297439.3	37	c.33	CCDS5959.1	8																																																																																			DEFB1	-	NULL		0.547	DEFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB1	HGNC	protein_coding	OTTHUMT00000251292.1	G	NM_005218		6735347	-1	no_errors	ENST00000297439	ensembl	human	known	70_37	silent	SNP	0.527	C
DEFB116	245930	genome.wustl.edu	37	20	29896334	29896334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:29896334G>A	ENST00000400549.1	-	1	54	c.55C>T	c.(55-57)Caa>Taa	p.Q19*		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	19			Q -> L (in dbSNP:rs6119768).		defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGAGTCTTTTGAGCCAGGATC	0.478																																																	0													174.0	171.0	172.0					20																	29896334		2002	4161	6163	SO:0001587	stop_gained	245930			DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.55C>T	20.37:g.29896334G>A	ENSP00000383396:p.Gln19*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.Q19*	ENST00000400549.1	37	c.55	CCDS42860.1	20	.	.	.	.	.	.	.	.	.	.	G	14.13	2.445029	0.43429	.	.	ENSG00000215545	ENST00000400549	.	.	.	4.13	2.12	0.27331	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-13.3435	5.6332	0.17522	0.1102:0.2105:0.6793:0.0	.	.	.	.	X	19	.	ENSP00000383396:Q19X	Q	-	1	0	DEFB116	29359995	0.990000	0.36364	0.198000	0.23420	0.257000	0.26127	0.389000	0.20751	0.660000	0.30964	0.655000	0.94253	CAA	DEFB116	-	NULL		0.478	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB116	HGNC	protein_coding	OTTHUMT00000354403.1	G	NM_001037731		29896334	-1	no_errors	ENST00000400549	ensembl	human	known	70_37	nonsense	SNP	0.256	A
DEFB119	245932	genome.wustl.edu	37	20	29965028	29965028	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:29965028G>C	ENST00000376321.3	-	0	395				DEFB119_ENST00000492344.1_5'UTR|SNORA40_ENST00000390832.1_RNA|DEFB119_ENST00000339144.3_3'UTR	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAGAGCTTGAGAATGGTAA	0.473																																																	0													128.0	105.0	113.0					20																	29965028		2203	4300	6503	SO:0001624	3_prime_UTR_variant	245932			AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.*21C>G	20.37:g.29965028G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5GRG1|Q5JWP1|Q5TH42|Q8N689	RNA	SNP	-	NULL	ENST00000376321.3	37	NULL	CCDS13178.1	20																																																																																			DEFB119	-	-		0.473	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB119	HGNC	protein_coding	OTTHUMT00000078514.1	G	NM_153289		29965028	-1	no_errors	ENST00000492344	ensembl	human	known	70_37	rna	SNP	0.011	C
DFNB31	25861	genome.wustl.edu	37	9	117266634	117266634	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:117266634C>G	ENST00000362057.3	-	1	616	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	DFNB31_ENST00000374057.3_Missense_Mutation_p.E150Q|DFNB31_ENST00000265134.6_5'Flank|DFNB31_ENST00000480518.1_5'Flank	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	150	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAAGCCCTCGTGGGCCTTG	0.706																																																	0													48.0	51.0	50.0					9																	117266634		2203	4300	6503	SO:0001583	missense	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.448G>C	9.37:g.117266634C>G	ENSP00000354623:p.Glu150Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E150Q	ENST00000362057.3	37	c.448	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458099	0.84317	.	.	ENSG00000095397	ENST00000362057;ENST00000374057	T;T	0.29655	1.56;1.56	5.79	5.79	0.91817	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.29976	0.0750	N	0.11064	0.09	0.80722	D	1	D;P;P	0.53745	0.962;0.771;0.515	P;B;B	0.52454	0.699;0.425;0.283	T	0.06734	-1.0810	10	0.25751	T	0.34	-35.5451	20.04	0.97581	0.0:1.0:0.0:0.0	.	150;150;150	Q9P202-2;B9EGE6;Q9P202	.;.;WHRN_HUMAN	Q	150	ENSP00000354623:E150Q;ENSP00000363170:E150Q	ENSP00000354623:E150Q	E	-	1	0	DFNB31	116306455	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.026000	0.76455	2.733000	0.93635	0.655000	0.94253	GAG	DFNB31	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.706	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	C	NM_015404		117266634	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	missense	SNP	1.000	G
DGCR8	54487	genome.wustl.edu	37	22	20079118	20079118	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:20079118C>G	ENST00000351989.3	+	6	1896	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	DGCR8_ENST00000383024.2_Silent_p.L489L|DGCR8_ENST00000407755.1_Silent_p.L489L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	489	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.L489L(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ATCAGAAGCTCATTACTTTAT	0.463																																																	1	Substitution - coding silent(1)	endometrium(1)											140.0	151.0	147.0					22																	20079118		2203	4300	6503	SO:0001819	synonymous_variant	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1467C>G	22.37:g.20079118C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd	p.L489	ENST00000351989.3	37	c.1467	CCDS13773.1	22																																																																																			DGCR8	-	NULL		0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	C			20079118	+1	no_errors	ENST00000351989	ensembl	human	known	70_37	silent	SNP	1.000	G
DGKA	1606	genome.wustl.edu	37	12	56332976	56332976	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56332976C>G	ENST00000331886.5	+	8	935	c.481C>G	c.(481-483)Cag>Gag	p.Q161E	DGKA_ENST00000551156.1_Missense_Mutation_p.Q161E|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Missense_Mutation_p.Q161E	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	161	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCAGATTCTTCAGGAGATGAT	0.542																																																	0													108.0	100.0	103.0					12																	56332976		2203	4300	6503	SO:0001583	missense	1606			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.481C>G	12.37:g.56332976C>G	ENSP00000328405:p.Gln161Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.Q161E	ENST00000331886.5	37	c.481	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	C	4.760	0.141262	0.09083	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	T;T;T;T	0.64618	1.69;-0.11;1.69;1.69	5.03	5.03	0.67393	EF-hand-like domain (1);	0.110396	0.64402	D	0.000009	T	0.45397	0.1340	N	0.17474	0.49	0.42120	D	0.991421	B;B;B;B	0.22909	0.077;0.001;0.025;0.002	B;B;B;B	0.24848	0.056;0.01;0.017;0.009	T	0.34428	-0.9829	10	0.21540	T	0.41	.	13.4039	0.60900	0.0:0.8417:0.1583:0.0	.	161;80;161;161	Q3ZE25;G3V4E1;B4E0C6;P23743	.;.;.;DGKA_HUMAN	E	161;80;161;161	ENSP00000328405:Q161E;ENSP00000451743:Q80E;ENSP00000377703:Q161E;ENSP00000450359:Q161E	ENSP00000328405:Q161E	Q	+	1	0	DGKA	54619243	1.000000	0.71417	1.000000	0.80357	0.022000	0.10575	1.338000	0.33873	2.791000	0.96007	0.591000	0.81541	CAG	DGKA	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.542	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	C			56332976	+1	no_errors	ENST00000331886	ensembl	human	known	70_37	missense	SNP	1.000	G
DGUOK	1716	genome.wustl.edu	37	2	74177749	74177749	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74177749C>G	ENST00000264093.4	+	4	566	c.481C>G	c.(481-483)Ctc>Gtc	p.L161V	DGUOK_ENST00000356837.6_Missense_Mutation_p.L139V|DGUOK_ENST00000462685.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000348222.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	161					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|dGTP metabolic process (GO:0046070)|guanosine metabolic process (GO:0008617)|negative regulation of neuron projection development (GO:0010977)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|protein phosphorylation (GO:0006468)|purine deoxyribonucleoside metabolic process (GO:0046122)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxyguanosine kinase activity (GO:0004138)|nucleoside kinase activity (GO:0019206)			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8					Nelarabine(DB01280)	AAATGGTTCCCTCAGTGACAT	0.478																																																	0													223.0	227.0	225.0					2																	74177749		2203	4300	6503	SO:0001583	missense	1716			U41668	CCDS1931.1, CCDS1932.1	2p13	2008-02-05			ENSG00000114956	ENSG00000114956	2.7.1.113		2858	protein-coding gene	gene with protein product		601465					Standard	NM_080916		Approved	dGK	uc002sjx.3	Q16854	OTTHUMG00000129819	ENST00000264093.4:c.481C>G	2.37:g.74177749C>G	ENSP00000264093:p.Leu161Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P78532|Q16759|Q4ZG09|Q7L1W9|Q96BC1	Missense_Mutation	SNP	pfam_Deoxynucleoside_kinase	p.L161V	ENST00000264093.4	37	c.481	CCDS1931.1	2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534160	0.45073	.	.	ENSG00000114956	ENST00000264093;ENST00000356837;ENST00000347161	D;D	0.98120	-4.73;-4.73	5.67	3.82	0.43975	.	0.190628	0.44902	D	0.000415	D	0.97028	0.9029	M	0.81497	2.545	0.52501	D	0.999954	B	0.32753	0.383	B	0.42343	0.384	D	0.95164	0.8284	10	0.72032	D	0.01	-5.5962	4.9324	0.13923	0.3467:0.5072:0.0:0.1462	.	161	Q16854	DGUOK_HUMAN	V	161;139;123	ENSP00000264093:L161V;ENSP00000349294:L139V	ENSP00000264093:L161V	L	+	1	0	DGUOK	74031257	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.496000	0.35638	0.677000	0.31305	0.563000	0.77884	CTC	DGUOK	-	pfam_Deoxynucleoside_kinase		0.478	DGUOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGUOK	HGNC	protein_coding	OTTHUMT00000252050.1	C			74177749	+1	no_errors	ENST00000264093	ensembl	human	known	70_37	missense	SNP	1.000	G
DHX15	1665	genome.wustl.edu	37	4	24585975	24585975	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:24585975G>C	ENST00000336812.4	-	1	198	c.42C>G	c.(40-42)ccC>ccG	p.P14P		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	14					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.P14P(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TCTTGCCAGAGGGGTAATCCT	0.652																																																	1	Substitution - coding silent(1)	lung(1)											37.0	35.0	36.0					4																	24585975		2203	4300	6503	SO:0001819	synonymous_variant	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.42C>G	4.37:g.24585975G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NQT7	Silent	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P14	ENST00000336812.4	37	c.42	CCDS33966.1	4																																																																																			DHX15	-	NULL		0.652	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	G	NM_001358		24585975	-1	no_errors	ENST00000336812	ensembl	human	known	70_37	silent	SNP	1.000	C
DHX16	8449	genome.wustl.edu	37	6	30638915	30638915	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:30638915C>A	ENST00000376442.3	-	2	539	c.344G>T	c.(343-345)gGa>gTa	p.G115V		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	115					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GAGGCTGCTTCCAGCCCTACT	0.522																																																	0													165.0	178.0	173.0					6																	30638915		1510	2709	4219	SO:0001583	missense	8449			AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.344G>T	6.37:g.30638915C>A	ENSP00000365625:p.Gly115Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G115V	ENST00000376442.3	37	c.344	CCDS4685.1	6	.	.	.	.	.	.	.	.	.	.	C	8.467	0.856548	0.17106	.	.	ENSG00000204560	ENST00000376442;ENST00000415603	T;T	0.64260	-0.09;2.0	5.27	3.49	0.39957	.	0.347833	0.30630	N	0.009215	T	0.16300	0.0392	N	0.08118	0	0.21782	N	0.999543	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15636	-1.0430	10	0.33940	T	0.23	.	5.1161	0.14834	0.1645:0.6606:0.0:0.1749	.	55;115	B4DZ28;O60231	.;DHX16_HUMAN	V	115;55	ENSP00000365625:G115V;ENSP00000399101:G55V	ENSP00000365625:G115V	G	-	2	0	DHX16	30746894	0.225000	0.23685	0.978000	0.43139	0.357000	0.29423	0.094000	0.15107	0.615000	0.30124	-0.232000	0.12228	GGA	DHX16	-	NULL		0.522	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX16	HGNC	protein_coding	OTTHUMT00000076076.2	C	NM_003587		30638915	-1	no_errors	ENST00000376442	ensembl	human	known	70_37	missense	SNP	0.254	A
DHX38	9785	genome.wustl.edu	37	16	72133176	72133176	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:72133176G>C	ENST00000268482.3	+	7	1466	c.957G>C	c.(955-957)caG>caC	p.Q319H	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	319					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AAGATGACCAGAGGGTAAAGT	0.562																																					Melanoma(97;711 1442 7855 13832 28836)												0													47.0	35.0	39.0					16																	72133176		2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.957G>C	16.37:g.72133176G>C	ENSP00000268482:p.Gln319His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q319H	ENST00000268482.3	37	c.957	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906945	0.72868	.	.	ENSG00000140829	ENST00000268482	T	0.03301	3.98	4.27	3.3	0.37823	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	M	0.84219	2.685	0.80722	D	1	D	0.56968	0.978	P	0.58391	0.838	T	0.00555	-1.1673	10	0.72032	D	0.01	.	10.7747	0.46342	0.1627:0.0:0.8373:0.0	.	319	Q92620	PRP16_HUMAN	H	319	ENSP00000268482:Q319H	ENSP00000268482:Q319H	Q	+	3	2	DHX38	70690677	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.284000	0.43478	0.917000	0.36895	0.557000	0.71058	CAG	DHX38	-	NULL		0.562	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	G	NM_014003		72133176	+1	no_errors	ENST00000268482	ensembl	human	known	70_37	missense	SNP	1.000	C
DIMT1	27292	genome.wustl.edu	37	5	61694524	61694524	+	Silent	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:61694524C>A	ENST00000199320.4	-	5	505	c.345G>T	c.(343-345)ctG>ctT	p.L115L	DIMT1_ENST00000506390.1_Silent_p.L115L|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	115						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										AATCTGTTTTCAGCACATCAC	0.388																																																	0													107.0	103.0	104.0					5																	61694524		2203	4300	6503	SO:0001819	synonymous_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.345G>T	5.37:g.61694524C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O76025|Q9BU77|Q9UES1	Silent	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	p.L115	ENST00000199320.4	37	c.345	CCDS3981.1	5																																																																																			DIMT1	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase		0.388	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIMT1	HGNC	protein_coding	OTTHUMT00000253967.1	C	NM_014473		61694524	-1	no_errors	ENST00000199320	ensembl	human	known	70_37	silent	SNP	0.999	A
DIMT1	27292	genome.wustl.edu	37	5	61694532	61694532	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:61694532C>T	ENST00000199320.4	-	5	497	c.337G>A	c.(337-339)Gat>Aat	p.D113N	DIMT1_ENST00000506390.1_Missense_Mutation_p.D113N|KIF2A_ENST00000509663.2_Intron	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	113						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										TTCAGCACATCACCCACCAGT	0.378																																																	0													105.0	102.0	103.0					5																	61694532		2203	4300	6503	SO:0001583	missense	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.337G>A	5.37:g.61694532C>T	ENSP00000199320:p.Asp113Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O76025|Q9BU77|Q9UES1	Missense_Mutation	SNP	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase	p.D113N	ENST00000199320.4	37	c.337	CCDS3981.1	5	.	.	.	.	.	.	.	.	.	.	C	35	5.425421	0.96131	.	.	ENSG00000086189	ENST00000199320;ENST00000506390	T;T	0.61980	0.06;0.06	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85296	0.5664	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86499	0.1802	10	0.59425	D	0.04	-24.1658	20.8598	0.99761	0.0:1.0:0.0:0.0	.	113	Q9UNQ2	DIM1_HUMAN	N	113	ENSP00000199320:D113N;ENSP00000421754:D113N	ENSP00000199320:D113N	D	-	1	0	DIMT1L	61730289	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.487000	0.81328	2.937000	0.99478	0.650000	0.86243	GAT	DIMT1	-	pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase		0.378	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIMT1	HGNC	protein_coding	OTTHUMT00000253967.1	C	NM_014473		61694532	-1	no_errors	ENST00000199320	ensembl	human	known	70_37	missense	SNP	1.000	T
DIXDC1	85458	genome.wustl.edu	37	11	111889885	111889885	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111889885C>G	ENST00000389821.4	+	0	2473				DIXDC1_ENST00000440460.2_3'UTR|DIXDC1_ENST00000315253.5_3'UTR			Q155Q3	DIXC1_HUMAN	DIX domain containing 1						camera-type eye development (GO:0043010)|cell cycle (GO:0007049)|cerebellar cortex development (GO:0021695)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain development (GO:0030900)|forebrain ventricular zone progenitor cell division (GO:0021869)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of axonogenesis (GO:0050772)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JNK cascade (GO:0046330)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of JNK cascade (GO:0046328)|regulation of microtubule cytoskeleton organization (GO:0070507)|Wnt signaling pathway (GO:0016055)	axon terminus (GO:0043679)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytosol (GO:0005829)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	gamma-tubulin binding (GO:0043015)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AGAAGCTTCTCCAAGCATGAT	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	85458			AB051522	CCDS60957.1, CCDS73381.1, CCDS73382.1	11q23.1	2014-03-20			ENSG00000150764	ENSG00000150764			23695	protein-coding gene	gene with protein product		610493				12792787	Standard	NM_001037954		Approved	KIAA1735, Dixin	uc001pmm.3	Q155Q3	OTTHUMG00000166912	ENST00000389821.4:c.*2470C>G	11.37:g.111889885C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5D8|E9PRV4|Q6P2J8|Q6PIK4|Q86SR7|Q8IVY4|Q96N69|Q9C0C8	RNA	SNP	-	NULL	ENST00000389821.4	37	NULL		11																																																																																			DIXDC1	-	-		0.453	DIXDC1-001	KNOWN	basic	processed_transcript	DIXDC1	HGNC	protein_coding	OTTHUMT00000391833.1	C	NM_001037954		111889885	+1	no_errors	ENST00000389821	ensembl	human	known	70_37	rna	SNP	0.969	G
DLAT	1737	genome.wustl.edu	37	11	111915924	111915924	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:111915924C>T	ENST00000280346.6	+	9	1919	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	DLAT_ENST00000393051.1_Silent_p.F315F|DLAT_ENST00000537636.1_Silent_p.F191F	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	420	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CAGGTGTCTTCACAGATATCC	0.468																																																	0													167.0	165.0	166.0					11																	111915924		2201	4297	6498	SO:0001819	synonymous_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1260C>T	11.37:g.111915924C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16783|Q53EP3	Silent	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	p.F420	ENST00000280346.6	37	c.1260	CCDS8354.1	11																																																																																			DLAT	-	pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L		0.468	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	C	NM_001931		111915924	+1	no_errors	ENST00000280346	ensembl	human	known	70_37	silent	SNP	1.000	T
DMD	1756	genome.wustl.edu	37	X	32360327	32360327	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:32360327C>T	ENST00000357033.4	-	41	6018	c.5812G>A	c.(5812-5814)Gag>Aag	p.E1938K	DMD_ENST00000378677.2_Missense_Mutation_p.E1934K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1938					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCCCATCCTCAGACAAGCCC	0.507																																																	0													100.0	70.0	80.0					X																	32360327		2202	4300	6502	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5812G>A	X.37:g.32360327C>T	ENSP00000354923:p.Glu1938Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E1938K	ENST00000357033.4	37	c.5812	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	C	5.069	0.198362	0.09652	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.54071	0.59;0.59	5.76	-1.0	0.10196	.	0.403035	0.17522	N	0.171216	T	0.23451	0.0567	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.002;0.002;0.001;0.001	T	0.07195	-1.0785	10	0.14252	T	0.57	.	5.5825	0.17258	0.0:0.2747:0.2511:0.4742	.	1930;1938;1934;597;594	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1930;597;594;1934;1938;1938;1815	ENSP00000367948:E1934K;ENSP00000354923:E1938K	ENSP00000354923:E1938K	E	-	1	0	DMD	32270248	0.988000	0.35896	0.992000	0.48379	0.991000	0.79684	0.166000	0.16583	-0.268000	0.09312	0.594000	0.82650	GAG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.507	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	C	NM_004006		32360327	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	T
DMKN	93099	genome.wustl.edu	37	19	35996882	35996882	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:35996882C>T	ENST00000339686.3	-	8	1221	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	DMKN_ENST00000451297.2_Missense_Mutation_p.E332K|DMKN_ENST00000461300.1_5'UTR|DMKN_ENST00000419602.1_Missense_Mutation_p.E338K|DMKN_ENST00000424570.2_Missense_Mutation_p.E361K|DMKN_ENST00000488892.1_Missense_Mutation_p.E45K|DMKN_ENST00000447113.2_Missense_Mutation_p.E399K|DMKN_ENST00000392206.2_Missense_Mutation_p.E62K|DMKN_ENST00000458071.1_Missense_Mutation_p.E94K|DMKN_ENST00000602781.1_Missense_Mutation_p.E62K|DMKN_ENST00000480502.1_Missense_Mutation_p.E62K|DMKN_ENST00000436012.1_Missense_Mutation_p.E45K|DMKN_ENST00000414866.2_Missense_Mutation_p.E62K|DMKN_ENST00000474928.1_5'UTR|DMKN_ENST00000418261.1_Missense_Mutation_p.E349K|DMKN_ENST00000429837.1_Missense_Mutation_p.E308K|DMKN_ENST00000472252.2_5'UTR|DMKN_ENST00000467637.1_Missense_Mutation_p.E74K|DMKN_ENST00000443640.1_Missense_Mutation_p.E112K|DMKN_ENST00000492341.2_5'UTR|DMKN_ENST00000440396.1_Missense_Mutation_p.E379K|DMKN_ENST00000402589.2_Missense_Mutation_p.E62K|DMKN_ENST00000462126.1_5'UTR	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	349						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGAGACGTCTCAGAGTTCTAT	0.517																																																	0													143.0	137.0	139.0					19																	35996882		2203	4300	6503	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1045G>A	19.37:g.35996882C>T	ENSP00000342012:p.Glu349Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.E349K	ENST00000339686.3	37	c.1045	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	C	16.43	3.119847	0.56613	.	.	ENSG00000161249	ENST00000402589;ENST00000339686;ENST00000392207;ENST00000436012;ENST00000414866;ENST00000429837;ENST00000419602;ENST00000443640;ENST00000447113;ENST00000392206;ENST00000440396;ENST00000458071;ENST00000418261;ENST00000424570;ENST00000451297;ENST00000450261	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	4.34	-1.83	0.07833	.	0.711192	0.11627	N	0.545122	T	0.41236	0.1150	L	0.46157	1.445	0.09310	N	1	B;D;B;B;D;B;B;B;B;P;P;B;B;B	0.58620	0.103;0.983;0.426;0.426;0.979;0.264;0.034;0.103;0.103;0.655;0.907;0.103;0.103;0.058	B;D;B;B;P;B;B;B;B;B;P;B;B;B	0.63877	0.085;0.919;0.14;0.14;0.84;0.085;0.059;0.059;0.085;0.194;0.663;0.058;0.085;0.059	T	0.36553	-0.9743	10	0.72032	D	0.01	-0.0604	9.5687	0.39414	0.0987:0.633:0.2683:0.0	.	45;379;332;349;361;5;5;25;43;338;308;349;62;112	B4E3D1;E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;Q6E0U4-12;Q6E0U4-11;Q6E0U4-10;Q6E0U4-9;C9J4P6;Q6E0U4-4;Q6E0U4;Q6E0U4-8;C9IYI1	.;.;.;.;.;.;.;.;.;.;.;DMKN_HUMAN;.;.	K	62;349;361;45;62;308;338;112;399;62;379;94;349;361;332;82	ENSP00000384509:E62K;ENSP00000342012:E349K;ENSP00000412075:E45K;ENSP00000392222:E62K;ENSP00000405503:E308K;ENSP00000391036:E338K;ENSP00000406864:E112K;ENSP00000394908:E399K;ENSP00000376042:E62K;ENSP00000415277:E379K;ENSP00000403957:E94K;ENSP00000414743:E349K;ENSP00000388404:E361K;ENSP00000409513:E332K;ENSP00000397005:E82K	ENSP00000342012:E349K	E	-	1	0	DMKN	40688722	0.009000	0.17119	0.007000	0.13788	0.024000	0.10985	0.639000	0.24690	-0.339000	0.08401	-0.188000	0.12872	GAG	DMKN	-	NULL		0.517	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	C	NM_033317		35996882	-1	no_errors	ENST00000339686	ensembl	human	known	70_37	missense	SNP	0.010	T
DMXL2	23312	genome.wustl.edu	37	15	51773272	51773272	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:51773272C>G	ENST00000251076.5	-	24	6318	c.6031G>C	c.(6031-6033)Gat>Cat	p.D2011H	DMXL2_ENST00000543779.2_Missense_Mutation_p.D2011H|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.D1375H	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2011						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCCTTCTGATCTGATTGTTTA	0.413																																																	0													175.0	174.0	174.0					15																	51773272		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6031G>C	15.37:g.51773272C>G	ENSP00000251076:p.Asp2011His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D2011H	ENST00000251076.5	37	c.6031	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	7.965	0.747886	0.15710	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.77877	-1.13;-1.13;-1.13	5.39	2.32	0.28847	.	0.518632	0.21854	N	0.068128	T	0.74711	0.3752	L	0.50333	1.59	0.09310	N	1	B;P;B;B	0.52842	0.298;0.956;0.198;0.006	B;P;B;B	0.51582	0.258;0.674;0.173;0.022	T	0.64385	-0.6420	10	0.49607	T	0.09	.	5.9804	0.19403	0.0:0.6396:0.1395:0.221	.	2011;1375;2011;2011	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	H	2011;2011;1375	ENSP00000251076:D2011H;ENSP00000441858:D2011H;ENSP00000400855:D1375H	ENSP00000251076:D2011H	D	-	1	0	DMXL2	49560564	0.020000	0.18652	0.002000	0.10522	0.062000	0.15995	1.303000	0.33470	1.257000	0.44085	0.650000	0.86243	GAT	DMXL2	-	NULL		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51773272	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	0.000	G
DNAH1	25981	genome.wustl.edu	37	3	52384529	52384529	+	Silent	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:52384529G>T	ENST00000420323.2	+	16	2913	c.2652G>T	c.(2650-2652)cgG>cgT	p.R884R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	884	Stem. {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)		TGCAGGAGCGGATTGTGAAGG	0.542																																																	0													77.0	80.0	79.0					3																	52384529		2033	4188	6221	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.2652G>T	3.37:g.52384529G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	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.R884	ENST00000420323.2	37	c.2652	CCDS46842.1	3																																																																																			DNAH1	-	NULL		0.542	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52384529	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	silent	SNP	0.989	T
DNAH1	25981	genome.wustl.edu	37	3	52398849	52398849	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:52398849G>A	ENST00000420323.2	+	34	5593	c.5332G>A	c.(5332-5334)Gag>Aag	p.E1778K		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1778					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)		CCTGCTGCAGGAGCTGATCTG	0.647																																																	0													56.0	61.0	59.0					3																	52398849		2146	4255	6401	SO:0001630	splice_region_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.5332-1G>A	3.37:g.52398849G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.E1778K	ENST00000420323.2	37	c.5332	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079568	0.76528	.	.	ENSG00000114841	ENST00000420323	T	0.26373	1.74	4.49	4.49	0.54785	.	0.143672	0.31335	N	0.007822	T	0.47911	0.1471	M	0.91406	3.205	0.80722	D	1	P	0.48998	0.918	P	0.47827	0.558	T	0.64011	-0.6507	9	.	.	.	.	17.2058	0.86917	0.0:0.0:1.0:0.0	.	1778	C9JXH6	.	K	1778	ENSP00000401514:E1778K	.	E	+	1	0	DNAH1	52373889	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	6.071000	0.71229	2.068000	0.61886	0.467000	0.42956	GAG	DNAH1	-	NULL		0.647	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512	Missense_Mutation	52398849	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124330576	124330576	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124330576G>A	ENST00000409039.3	+	31	5360	c.5335G>A	c.(5335-5337)Gag>Aag	p.E1779K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1779	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)		TTGGGACCGGGAGCCGGATGA	0.582																																																	0													92.0	96.0	95.0					12																	124330576		1945	4130	6075	SO:0001583	missense	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.5335G>A	12.37:g.124330576G>A	ENSP00000386770:p.Glu1779Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	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.E1779K	ENST00000409039.3	37	c.5335	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209827	0.58343	.	.	ENSG00000197653	ENST00000409039	T	0.23348	1.91	5.56	5.56	0.83823	.	0.933563	0.08731	U	0.902080	T	0.32615	0.0835	L	0.49699	1.58	0.49389	D	0.99978	B	0.20780	0.048	B	0.23419	0.046	T	0.11641	-1.0579	10	0.30854	T	0.27	.	19.5312	0.95230	0.0:0.0:1.0:0.0	.	1779	Q8IVF4	DYH10_HUMAN	K	1779	ENSP00000386770:E1779K	ENSP00000386770:E1779K	E	+	1	0	DNAH10	122896529	0.999000	0.42202	0.532000	0.27989	0.826000	0.46750	2.937000	0.48979	2.606000	0.88127	0.561000	0.74099	GAG	DNAH10	-	NULL		0.582	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124330576	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124363859	124363859	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124363859G>A	ENST00000409039.3	+	48	8092	c.8067G>A	c.(8065-8067)ctG>ctA	p.L2689L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2689					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)		ATGAGTGTCTGAGAGTCTTCC	0.483																																																	0													47.0	48.0	48.0					12																	124363859		1965	4171	6136	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.8067G>A	12.37:g.124363859G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	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.L2689	ENST00000409039.3	37	c.8067	CCDS9255.2	12																																																																																			DNAH10	-	NULL		0.483	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	G			124363859	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124416304	124416304	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124416304C>G	ENST00000409039.3	+	74	12709	c.12684C>G	c.(12682-12684)ctC>ctG	p.L4228L	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4228					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)		GAACAGGACTCTCCCCCACTT	0.527																																																	0													98.0	97.0	98.0					12																	124416304		1955	4138	6093	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.12684C>G	12.37:g.124416304C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	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.L4228	ENST00000409039.3	37	c.12684	CCDS9255.2	12																																																																																			DNAH10	-	pfam_Dynein_heavy_dom		0.527	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124416304	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	silent	SNP	0.993	G
DNAH10	196385	genome.wustl.edu	37	12	124416389	124416389	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:124416389C>G	ENST00000409039.3	+	74	12794	c.12769C>G	c.(12769-12771)Caa>Gaa	p.Q4257E	DNAH10_ENST00000538983.1_3'UTR|DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4257					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)		GGCTGAACTTCAAAGGGTGAG	0.537																																																	0													111.0	109.0	110.0					12																	124416389		2023	4186	6209	SO:0001583	missense	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.12769C>G	12.37:g.124416389C>G	ENSP00000386770:p.Gln4257Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	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.Q4257E	ENST00000409039.3	37	c.12769	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121614	0.56613	.	.	ENSG00000197653	ENST00000409039	T	0.08008	3.14	5.46	5.46	0.80206	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.20373	0.0490	M	0.63208	1.945	0.80722	D	1	D	0.56035	0.974	P	0.57720	0.826	T	0.05632	-1.0873	10	0.07482	T	0.82	.	18.9279	0.92552	0.0:1.0:0.0:0.0	.	4257	Q8IVF4	DYH10_HUMAN	E	4257	ENSP00000386770:Q4257E	ENSP00000386770:Q4257E	Q	+	1	0	DNAH10	122982342	1.000000	0.71417	0.988000	0.46212	0.108000	0.19459	6.074000	0.71253	2.563000	0.86464	0.655000	0.94253	CAA	DNAH10	-	pfam_Dynein_heavy_dom		0.537	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	C			124416389	+1	no_errors	ENST00000409039	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH11	8701	genome.wustl.edu	37	7	21646158	21646158	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:21646158G>C	ENST00000409508.3	+	19	3794	c.3763G>C	c.(3763-3765)Gac>Cac	p.D1255H	DNAH11_ENST00000328843.6_Missense_Mutation_p.D1255H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1255	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)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATTTTGTTTGACGTAAGCTA	0.308									Kartagener syndrome																																								0													69.0	65.0	66.0					7																	21646158		1830	4089	5919	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3763G>C	7.37:g.21646158G>C	ENSP00000475939:p.Asp1255His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D1255H	ENST00000409508.3	37	c.3763		7	.	.	.	.	.	.	.	.	.	.	G	18.82	3.706113	0.68615	.	.	ENSG00000105877	ENST00000328843	T	0.22743	1.94	5.65	5.65	0.86999	.	0.056306	0.64402	D	0.000001	T	0.29355	0.0731	.	.	.	0.58432	D	0.999991	P	0.47409	0.895	P	0.47673	0.554	T	0.00749	-1.1582	9	0.42905	T	0.14	.	15.2425	0.73482	0.0:0.0:0.8589:0.1411	.	1255	Q96DT5	DYH11_HUMAN	H	1255	ENSP00000330671:D1255H	ENSP00000330671:D1255H	D	+	1	0	DNAH11	21612683	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	9.396000	0.97270	2.659000	0.90383	0.655000	0.94253	GAC	DNAH11	-	NULL		0.308	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21646158	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAH12	201625	genome.wustl.edu	37	3	57528442	57528442	+	Silent	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:57528442T>C	ENST00000351747.2	-	2	336	c.156A>G	c.(154-156)aaA>aaG	p.K52K	DNAH12_ENST00000311202.6_Silent_p.K52K|DNAH12_ENST00000389536.4_Silent_p.K52K	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	52	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(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ACTGATTAATTTTCTGCTGCT	0.358																																																	0													122.0	112.0	116.0					3																	57528442		2203	4300	6503	SO:0001819	synonymous_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.156A>G	3.37:g.57528442T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.K52	ENST00000351747.2	37	c.156		3																																																																																			DNAH12	-	NULL		0.358	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		T	NM_178504		57528442	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	silent	SNP	0.001	C
DNAH2	146754	genome.wustl.edu	37	17	7641374	7641374	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7641374G>C	ENST00000572933.1	+	8	2630				DNAH2_ENST00000389173.2_Intron|DNAH2_ENST00000570791.1_Missense_Mutation_p.G422R|DNAH2_ENST00000082259.3_Missense_Mutation_p.G422R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGACCTGCAAGGCTGCATTCT	0.517																																																	0																																										SO:0001627	intron_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1170+798G>C	17.37:g.7641374G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-1	p.G422R	ENST00000572933.1	37	c.1264	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360800	0.24598	.	.	ENSG00000183914	ENST00000082259	T	0.55413	0.52	5.51	4.34	0.51931	.	.	.	.	.	T	0.42040	0.1185	.	.	.	0.24435	N	0.994553	P	0.44578	0.838	B	0.43052	0.406	T	0.15607	-1.0431	8	0.16420	T	0.52	.	14.1393	0.65308	0.0875:0.0:0.9125:0.0	.	422	Q9P225-3	.	R	422	ENSP00000082259:G422R	ENSP00000082259:G422R	G	+	1	0	DNAH2	7582099	1.000000	0.71417	0.962000	0.40283	0.551000	0.35334	6.646000	0.74348	2.595000	0.87683	0.561000	0.74099	GGC	DNAH2	-	pfam_Dynein_heavy_dom-1		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7641374	+1	no_errors	ENST00000082259	ensembl	human	known	70_37	missense	SNP	0.982	C
DNAH2	146754	genome.wustl.edu	37	17	7644300	7644300	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7644300G>A	ENST00000572933.1	+	11	3139	c.1679G>A	c.(1678-1680)aGa>aAa	p.R560K	DNAH2_ENST00000389173.2_Missense_Mutation_p.R560K|DNAH2_ENST00000570791.1_Missense_Mutation_p.R642K|DNAH2_ENST00000082259.3_Missense_Mutation_p.R642K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	560	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGCATCGACAGAGTCATGACC	0.587																																																	0													69.0	65.0	67.0					17																	7644300		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1679G>A	17.37:g.7644300G>A	ENSP00000458355:p.Arg560Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.R560K	ENST00000572933.1	37	c.1679	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574552	0.28092	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.53857	0.6;0.6	5.23	5.23	0.72850	Dynein heavy chain, domain-1 (1);	0.151333	0.46442	D	0.000290	T	0.40767	0.1130	N	0.25286	0.73	0.28742	N	0.901895	B;B	0.22080	0.024;0.064	B;B	0.25140	0.058;0.054	T	0.16129	-1.0413	10	0.15952	T	0.53	.	17.5708	0.87933	0.0:0.0:1.0:0.0	.	560;642	Q9P225;Q9P225-3	DYH2_HUMAN;.	K	560;560;642	ENSP00000373825:R560K;ENSP00000082259:R642K	ENSP00000082259:R642K	R	+	2	0	DNAH2	7585025	1.000000	0.71417	0.996000	0.52242	0.062000	0.15995	5.976000	0.70484	2.461000	0.83175	0.557000	0.71058	AGA	DNAH2	-	pfam_Dynein_heavy_dom-1		0.587	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7644300	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	0.965	A
DNAH6	1768	genome.wustl.edu	37	2	84774646	84774646	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:84774646G>A	ENST00000237449.6	+	6	1104	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	DNAH6_ENST00000398278.2_Missense_Mutation_p.E366K|DNAH6_ENST00000389394.3_Missense_Mutation_p.E366K			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	366	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTCGAAATGAGGCAAAATA	0.403																																																	0													257.0	221.0	232.0					2																	84774646		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1096G>A	2.37:g.84774646G>A	ENSP00000237449:p.Glu366Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E366K	ENST00000237449.6	37	c.1096	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	G	1.841	-0.467414	0.04476	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.23348	1.91;2.05;1.91	5.35	3.54	0.40534	.	.	.	.	.	T	0.09730	0.0239	N	0.11427	0.14	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.38950	-0.9637	9	0.05833	T	0.94	.	2.7859	0.05374	0.1619:0.1414:0.5512:0.1455	.	366	Q9C0G6	DYH6_HUMAN	K	366	ENSP00000374045:E366K;ENSP00000381326:E366K;ENSP00000237449:E366K	ENSP00000237449:E366K	E	+	1	0	DNAH6	84628157	0.963000	0.33076	0.005000	0.12908	0.707000	0.40811	1.149000	0.31626	0.632000	0.30432	0.591000	0.81541	GAG	DNAH6	-	NULL		0.403	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	G	NM_001370		84774646	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.383	A
DNAH6	1768	genome.wustl.edu	37	2	84936590	84936590	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:84936590C>T	ENST00000237449.6	+	54	9180	c.9172C>T	c.(9172-9174)Cgt>Tgt	p.R3058C	DNAH6_ENST00000389394.3_Missense_Mutation_p.R3058C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3058	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGGGCTGCCCCGTGACTTGAT	0.463																																																	0													111.0	98.0	102.0					2																	84936590		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9172C>T	2.37:g.84936590C>T	ENSP00000237449:p.Arg3058Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R3058C	ENST00000237449.6	37	c.9172	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	18.50	3.638263	0.67130	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.42131	0.98;0.98	5.27	4.37	0.52481	.	0.521020	0.13789	N	0.362695	T	0.68714	0.3031	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.71447	-0.4590	10	0.66056	D	0.02	.	13.7064	0.62641	0.1608:0.8392:0.0:0.0	.	3058	Q9C0G6	DYH6_HUMAN	C	3058	ENSP00000374045:R3058C;ENSP00000237449:R3058C	ENSP00000237449:R3058C	R	+	1	0	DNAH6	84790101	0.946000	0.32159	0.968000	0.41197	0.792000	0.44763	1.755000	0.38379	1.142000	0.42291	0.650000	0.86243	CGT	DNAH6	-	NULL		0.463	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	C	NM_001370		84936590	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.997	T
DNAH7	56171	genome.wustl.edu	37	2	196642531	196642531	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:196642531G>C	ENST00000312428.6	-	59	11157	c.11057C>G	c.(11056-11058)tCt>tGt	p.S3686C	DNAH7_ENST00000409063.1_Missense_Mutation_p.S169C	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3686					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACATCACCAGAAGGAGGAAC	0.368																																																	0													113.0	105.0	108.0					2																	196642531		1931	4132	6063	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11057C>G	2.37:g.196642531G>C	ENSP00000311273:p.Ser3686Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.S3686C	ENST00000312428.6	37	c.11057	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778766	0.31502	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.09163	3.01;3.01	4.98	3.1	0.35709	Dynein heavy chain (1);	0.738788	0.12468	N	0.466236	T	0.11153	0.0272	N	0.21097	0.63	0.80722	D	1	B	0.29909	0.261	P	0.45660	0.489	T	0.34825	-0.9813	10	0.37606	T	0.19	.	2.8061	0.05428	0.0937:0.1434:0.4609:0.302	.	3686	Q8WXX0	DYH7_HUMAN	C	3686;169	ENSP00000311273:S3686C;ENSP00000386912:S169C	ENSP00000311273:S3686C	S	-	2	0	DNAH7	196350776	0.995000	0.38212	0.999000	0.59377	0.951000	0.60555	3.664000	0.54525	1.324000	0.45282	0.655000	0.94253	TCT	DNAH7	-	pfam_Dynein_heavy_dom		0.368	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196642531	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	0.996	C
DNAH7	56171	genome.wustl.edu	37	2	196753533	196753533	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:196753533G>A	ENST00000312428.6	-	32	5319	c.5219C>T	c.(5218-5220)tCc>tTc	p.S1740F		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1740	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTGGCAGGGGAAGCAACTTC	0.328																																																	0													70.0	71.0	71.0					2																	196753533		1859	4100	5959	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5219C>T	2.37:g.196753533G>A	ENSP00000311273:p.Ser1740Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.S1740F	ENST00000312428.6	37	c.5219	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038251	0.54896	.	.	ENSG00000118997	ENST00000312428	D	0.96427	-4.01	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.99070	0.9681	H	0.98980	4.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	10	0.87932	D	0	.	19.1053	0.93293	0.0:0.0:1.0:0.0	.	1740	Q8WXX0	DYH7_HUMAN	F	1740	ENSP00000311273:S1740F	ENSP00000311273:S1740F	S	-	2	0	DNAH7	196461778	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	7.825000	0.86693	2.690000	0.91761	0.655000	0.94253	TCC	DNAH7	-	NULL		0.328	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196753533	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38794087	38794087	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:38794087G>A	ENST00000359357.3	+	27	3606	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	DNAH8_ENST00000449981.2_Missense_Mutation_p.D1335N|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1118N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1118					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGATTTAGATGATGTCAGATT	0.308																																																	0													113.0	110.0	111.0					6																	38794087		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3352G>A	6.37:g.38794087G>A	ENSP00000352312:p.Asp1118Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D1118N	ENST00000359357.3	37	c.3352		6	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876717	0.91664	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.27104	1.74;1.75;1.69	5.44	5.44	0.79542	.	0.122953	0.64402	D	0.000020	T	0.50599	0.1625	M	0.87827	2.91	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.54675	-0.8258	10	0.48119	T	0.1	.	17.516	0.87773	0.0:0.0:1.0:0.0	.	1118	Q96JB1	DYH8_HUMAN	N	1323;1323;1118;1118	ENSP00000333363:D1323N;ENSP00000352312:D1118N;ENSP00000402294:D1118N	ENSP00000333363:D1323N	D	+	1	0	DNAH8	38902065	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.395000	0.79876	2.587000	0.87381	0.545000	0.68477	GAT	DNAH8	-	NULL		0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38794087	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38897371	38897371	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:38897371C>G	ENST00000359357.3	+	73	10806	c.10552C>G	c.(10552-10554)Cat>Gat	p.H3518D	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.H3735D|DNAH8_ENST00000441566.1_Missense_Mutation_p.H3482D			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3518	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAGGACATTCATGAAGAGCT	0.383																																																	0													116.0	113.0	114.0					6																	38897371		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10552C>G	6.37:g.38897371C>G	ENSP00000352312:p.His3518Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H3518D	ENST00000359357.3	37	c.10552		6	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510212	0.44660	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.20069	2.1;2.1;2.1	5.65	4.78	0.61160	.	0.189060	0.44902	D	0.000419	T	0.01189	0.0039	N	0.00176	-1.92	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.46076	-0.9217	10	0.25106	T	0.35	.	4.539	0.12047	0.1349:0.526:0.2579:0.0812	.	3518	Q96JB1	DYH8_HUMAN	D	3723;3723;3518;3482	ENSP00000333363:H3723D;ENSP00000352312:H3518D;ENSP00000402294:H3482D	ENSP00000333363:H3723D	H	+	1	0	DNAH8	39005349	0.784000	0.28713	0.984000	0.44739	0.977000	0.68977	0.933000	0.28897	2.649000	0.89929	0.555000	0.69702	CAT	DNAH8	-	NULL		0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	C	NM_001206927		38897371	+1	no_errors	ENST00000359357	ensembl	human	known	70_37	missense	SNP	0.976	G
DNAJC13	23317	genome.wustl.edu	37	3	132172523	132172523	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:132172523G>A	ENST00000260818.6	+	8	1073	c.825G>A	c.(823-825)ttG>ttA	p.L275L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	275					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGCAACATTGAAGCCTTTAG	0.303																																																	0													98.0	110.0	106.0					3																	132172523		2203	4300	6503	SO:0001819	synonymous_variant	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.825G>A	3.37:g.132172523G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Silent	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.L275	ENST00000260818.6	37	c.825	CCDS33857.1	3																																																																																			DNAJC13	-	NULL		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	G	NM_015268		132172523	+1	no_errors	ENST00000260818	ensembl	human	known	70_37	silent	SNP	1.000	A
DNAJC18	202052	genome.wustl.edu	37	5	138749836	138749836	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:138749836C>G	ENST00000302060.5	-	0	1158					NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCATTATCCTCTCAGCCACCT	0.398																																																	0													198.0	166.0	177.0					5																	138749836		2203	4300	6503	SO:0001624	3_prime_UTR_variant	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.*1G>C	5.37:g.138749836C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000302060.5	37	NULL	CCDS4214.1	5																																																																																			DNAJC18	-	-		0.398	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC18	HGNC	protein_coding	OTTHUMT00000374191.1	C	NM_152686		138749836	-1	no_errors	ENST00000515559	ensembl	human	putative	70_37	rna	SNP	0.494	G
DNAJC18	202052	genome.wustl.edu	37	5	138749919	138749919	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:138749919C>T	ENST00000302060.5	-	8	1075	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	332						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTTTCAATCGTTCATCTCT	0.413																																																	0													245.0	210.0	222.0					5																	138749919		2203	4300	6503	SO:0001583	missense	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.995G>A	5.37:g.138749919C>T	ENSP00000302843:p.Arg332Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R332Q	ENST00000302060.5	37	c.995	CCDS4214.1	5	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761070	0.89932	.	.	ENSG00000170464	ENST00000302060	T	0.41758	0.99	5.8	5.8	0.92144	Domain of unknown function DUF1977, DnaJ-like (1);	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.62544	-0.6832	10	0.51188	T	0.08	0.0062	16.7737	0.85545	0.0:1.0:0.0:0.0	.	332	Q9H819	DJC18_HUMAN	Q	332	ENSP00000302843:R332Q	ENSP00000302843:R332Q	R	-	2	0	DNAJC18	138777818	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	6.981000	0.76166	2.748000	0.94277	0.655000	0.94253	CGA	DNAJC18	-	pfam_DUF1977_DnaJ-like		0.413	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC18	HGNC	protein_coding	OTTHUMT00000374191.1	C	NM_152686		138749919	-1	no_errors	ENST00000302060	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAJC27	51277	genome.wustl.edu	37	2	25179980	25179980	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:25179980C>T	ENST00000264711.2	-	5	649	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	DNAJC27_ENST00000468467.1_5'Flank|DNAJC27_ENST00000534855.1_Missense_Mutation_p.E83K	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	154					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTTTGCTTTCAGCCCAAAGA	0.418																																																	0													146.0	138.0	141.0					2																	25179980		2203	4300	6503	SO:0001583	missense	51277				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.460G>A	2.37:g.25179980C>T	ENSP00000264711:p.Glu154Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV88|Q86Y24	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom	p.E154K	ENST00000264711.2	37	c.460	CCDS1716.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.889536	0.97068	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.75704	-0.96;-0.96	5.8	5.8	0.92144	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	N	0.21142	0.635	0.80722	D	1	B;B	0.15930	0.015;0.008	B;B	0.26310	0.053;0.068	T	0.58657	-0.7598	10	0.30078	T	0.28	-32.2686	18.6227	0.91327	0.0:1.0:0.0:0.0	.	154;154	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	K	154;83	ENSP00000264711:E154K;ENSP00000440086:E83K	ENSP00000264711:E154K	E	-	1	0	DNAJC27	25033484	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.566000	0.82347	2.732000	0.93576	0.650000	0.86243	GAA	DNAJC27	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.418	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	C	NM_016544		25179980	-1	no_errors	ENST00000264711	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK1	1793	genome.wustl.edu	37	10	128780198	128780198	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:128780198C>T	ENST00000280333.6	+	4	297	c.188C>T	c.(187-189)tCa>tTa	p.S63L		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	63	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTTCCTGCTTCATATATTCAT	0.348																																																	0													97.0	89.0	91.0					10																	128780198		1824	4080	5904	SO:0001583	missense	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.188C>T	10.37:g.128780198C>T	ENSP00000280333:p.Ser63Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.S63L	ENST00000280333.6	37	c.188		10	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787231	0.70337	.	.	ENSG00000150760	ENST00000280333	T	0.55052	0.54	4.88	4.88	0.63580	Src homology-3 domain (3);	0.122032	0.53938	D	0.000045	T	0.59810	0.2221	M	0.75884	2.315	0.46478	D	0.99906	P;P	0.48640	0.913;0.862	P;B	0.46885	0.53;0.406	T	0.66968	-0.5789	10	0.87932	D	0	.	13.9129	0.63878	0.0:0.8479:0.1521:0.0	.	63;63	B2RUU3;Q14185	.;DOCK1_HUMAN	L	63	ENSP00000280333:S63L	ENSP00000280333:S63L	S	+	2	0	DOCK1	128670188	1.000000	0.71417	0.983000	0.44433	0.995000	0.86356	5.253000	0.65452	2.549000	0.85964	0.650000	0.86243	TCA	DOCK1	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.348	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	C	NM_001380		128780198	+1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	0.998	T
DOCK10	55619	genome.wustl.edu	37	2	225635056	225635056	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:225635056C>A	ENST00000258390.7	-	55	6383	c.6316G>T	c.(6316-6318)Gat>Tat	p.D2106Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.D2100Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2106	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCACATGCATCTGCAAATTGC	0.507																																																	0													80.0	71.0	74.0					2																	225635056		2005	4190	6195	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6316G>T	2.37:g.225635056C>A	ENSP00000258390:p.Asp2106Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D2106Y	ENST00000258390.7	37	c.6316	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253642	0.59212	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.18657	2.2;2.2	5.27	5.27	0.74061	.	0.188841	0.48767	D	0.000177	T	0.35068	0.0919	L	0.48642	1.525	0.58432	D	0.999996	B;P;P	0.48350	0.021;0.909;0.779	B;P;P	0.53266	0.129;0.722;0.516	T	0.05989	-1.0852	10	0.87932	D	0	.	18.8883	0.92388	0.0:1.0:0.0:0.0	.	2106;2100;768	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	Y	2100;2106;613	ENSP00000386694:D2100Y;ENSP00000258390:D2106Y	ENSP00000258390:D2106Y	D	-	1	0	DOCK10	225343300	1.000000	0.71417	0.991000	0.47740	0.779000	0.44077	5.778000	0.68940	2.472000	0.83506	0.563000	0.77884	GAT	DOCK10	-	pfam_DOCK_C,superfamily_ARM-type_fold		0.507	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225635056	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	1.000	A
DOCK11	139818	genome.wustl.edu	37	X	117783038	117783038	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:117783038G>C	ENST00000276202.7	+	41	4592	c.4529G>C	c.(4528-4530)aGa>aCa	p.R1510T	DOCK11_ENST00000276204.6_Missense_Mutation_p.R1510T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1510					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTTTTGATGAGAAACAACTTT	0.373																																																	0													141.0	138.0	139.0					X																	117783038		2203	4300	6503	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4529G>C	X.37:g.117783038G>C	ENSP00000276202:p.Arg1510Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1510T	ENST00000276202.7	37	c.4529	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814980	0.70912	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.01871	4.59;4.59	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.91090	3.175	0.49798	D	0.999829	D;D	0.62365	0.991;0.991	P;P	0.61477	0.889;0.889	T	0.01512	-1.1336	10	0.87932	D	0	-22.4901	18.7528	0.91821	0.0:0.0:1.0:0.0	.	1510;1510	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1510	ENSP00000276204:R1510T;ENSP00000276202:R1510T	ENSP00000276202:R1510T	R	+	2	0	DOCK11	117667066	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.258000	0.58822	2.374000	0.81015	0.429000	0.28392	AGA	DOCK11	-	NULL		0.373	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	G	NM_144658		117783038	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	C
DOCK2	1794	genome.wustl.edu	37	5	169496194	169496194	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:169496194G>A	ENST00000256935.8	+	46	4778	c.4698G>A	c.(4696-4698)ctG>ctA	p.L1566L	DOCK2_ENST00000520908.1_Silent_p.L1058L|DOCK2_ENST00000540750.1_Silent_p.L627L|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1566	DHR-2.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGACAAGCTGACCCACCTCA	0.592																																																	0													84.0	65.0	71.0					5																	169496194		2203	4300	6503	SO:0001819	synonymous_variant	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.4698G>A	5.37:g.169496194G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain	p.L1566	ENST00000256935.8	37	c.4698	CCDS4371.1	5																																																																																			DOCK2	-	pfam_DOCK_C,superfamily_Cyt_c_dom		0.592	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	G	NM_004946		169496194	+1	no_errors	ENST00000256935	ensembl	human	known	70_37	silent	SNP	1.000	A
DOCK3	1795	genome.wustl.edu	37	3	51251581	51251581	+	Silent	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:51251581T>C	ENST00000266037.9	+	14	1178	c.1155T>C	c.(1153-1155)cgT>cgC	p.R385R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	385					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCTTCTTCGTGGAGACATGG	0.378																																																	0													94.0	90.0	91.0					3																	51251581		1870	4125	5995	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1155T>C	3.37:g.51251581T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O15017	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R385	ENST00000266037.9	37	c.1155	CCDS46835.1	3																																																																																			DOCK3	-	NULL		0.378	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	T	NM_004947		51251581	+1	no_errors	ENST00000266037	ensembl	human	known	70_37	silent	SNP	1.000	C
DOCK6	57572	genome.wustl.edu	37	19	11347157	11347157	+	Missense_Mutation	SNP	C	C	T	rs375017238		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:11347157C>T	ENST00000294618.7	-	20	2268	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	DOCK6_ENST00000319867.7_Missense_Mutation_p.V57M|RN7SL298P_ENST00000581369.1_RNA|C19orf80_ENST00000591200.1_5'Flank	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	753					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCTGCTCCACGTTGCCCTCG	0.642																																																	0								C	MET/VAL	0,4222		0,0,2111	31.0	37.0	35.0		2257	3.9	1.0	19		35	1,8435		0,1,4217	no	missense	DOCK6	NM_020812.2	21	0,1,6328	TT,TC,CC		0.0119,0.0,0.0079	benign	753/2048	11347157	1,12657	2111	4218	6329	SO:0001583	missense	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.2257G>A	19.37:g.11347157C>T	ENSP00000294618:p.Val753Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.V753M	ENST00000294618.7	37	c.2257	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	7.320	0.616762	0.14129	0.0	1.19E-4	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.31247	1.5;1.5	4.98	3.94	0.45596	.	0.135022	0.53938	N	0.000052	T	0.16514	0.0397	N	0.12961	0.28	0.40633	D	0.981879	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.07233	-1.0783	10	0.25751	T	0.34	-18.1815	8.7996	0.34901	0.0:0.8107:0.0:0.1893	.	57;753	C9IZV6;Q96HP0	.;DOCK6_HUMAN	M	753;57	ENSP00000294618:V753M;ENSP00000321556:V57M	ENSP00000294618:V753M	V	-	1	0	DOCK6	11208157	0.025000	0.19082	0.976000	0.42696	0.488000	0.33401	-0.078000	0.11375	1.061000	0.40601	0.462000	0.41574	GTG	DOCK6	-	NULL		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812		11347157	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK9	23348	genome.wustl.edu	37	13	99567589	99567589	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:99567589G>A	ENST00000376460.1	-	8	966	c.886C>T	c.(886-888)Cac>Tac	p.H296Y	DOCK9_ENST00000442173.1_Missense_Mutation_p.H296Y|DOCK9_ENST00000339416.2_Missense_Mutation_p.H297Y|DOCK9_ENST00000448493.2_Missense_Mutation_p.H308Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	297				S -> P (in Ref. 4; BAG54337). {ECO:0000305}.	blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.H297fs*3(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTACCTTCGTGAGAGTCGCCA	0.448																																																	1	Deletion - Frameshift(1)	breast(1)											93.0	91.0	91.0					13																	99567589		2111	4238	6349	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.886C>T	13.37:g.99567589G>A	ENSP00000365643:p.His296Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H297Y	ENST00000376460.1	37	c.889	CCDS45062.1	13	.	.	.	.	.	.	.	.	.	.	G	16.93	3.256953	0.59321	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.03094	4.05;4.05;4.05;4.05	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	M	0.63428	1.95	0.80722	D	1	B;P;B;B;P	0.38420	0.003;0.63;0.182;0.02;0.624	B;B;B;B;P	0.45071	0.008;0.323;0.254;0.078;0.468	T	0.16129	-1.0413	9	.	.	.	.	17.9165	0.88953	0.0:0.0:1.0:0.0	.	297;296;296;296;297	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	Y	296;297;297;297;296;297;308;296	ENSP00000365643:H296Y;ENSP00000341086:H297Y;ENSP00000401958:H308Y;ENSP00000406883:H296Y	.	H	-	1	0	DOCK9	98365590	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	9.392000	0.97252	2.242000	0.73789	0.650000	0.86243	CAC	DOCK9	-	NULL		0.448	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	G	NM_015296		99567589	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	missense	SNP	1.000	A
DOPEY2	9980	genome.wustl.edu	37	21	37665756	37665756	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:37665756G>A	ENST00000399151.3	+	37	6869	c.6784G>A	c.(6784-6786)Gct>Act	p.A2262T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	2262					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACAGCTGCCTGCTGATAGCCC	0.453																																																	0													96.0	89.0	91.0					21																	37665756		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.6784G>A	21.37:g.37665756G>A	ENSP00000382104:p.Ala2262Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.A2262T	ENST00000399151.3	37	c.6784	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574630	0.28092	.	.	ENSG00000142197	ENST00000399151	T	0.46063	0.88	5.47	2.24	0.28232	.	0.593143	0.19205	N	0.120100	T	0.22627	0.0546	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.09997	-1.0649	10	0.23302	T	0.38	.	2.4277	0.04463	0.1591:0.1511:0.4685:0.2213	.	2255;2262	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	T	2262	ENSP00000382104:A2262T	ENSP00000382104:A2262T	A	+	1	0	DOPEY2	36587626	0.000000	0.05858	0.022000	0.16811	0.092000	0.18411	-0.423000	0.07034	0.728000	0.32382	-0.127000	0.14921	GCT	DOPEY2	-	NULL		0.453	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37665756	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	0.000	A
DPCR1	135656	genome.wustl.edu	37	6	30917085	30917085	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:30917085C>G	ENST00000462446.1	+	2	872	c.844C>G	c.(844-846)Cta>Gta	p.L282V	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	282	Thr-rich.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						CACACAATCTCTAGCAGAGCC	0.443																																																	0													80.0	72.0	74.0					6																	30917085		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.844C>G	6.37:g.30917085C>G	ENSP00000417182:p.Leu282Val	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.L282V	ENST00000462446.1	37	c.844	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	c	3.287	-0.145744	0.06627	.	.	ENSG00000168631	ENST00000462446;ENST00000450344	T	0.41400	1.0	1.23	0.196	0.15159	.	.	.	.	.	T	0.20780	0.0500	L	0.40543	1.245	0.09310	N	0.999999	P	0.49696	0.927	P	0.56563	0.801	T	0.09509	-1.0671	9	0.13108	T	0.6	.	4.3277	0.11048	0.3891:0.6109:0.0:0.0	.	282	E9PEI6	.	V	282	ENSP00000417182:L282V	ENSP00000411741:L282V	L	+	1	2	DPCR1	31025064	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-0.327000	0.07955	0.040000	0.15660	0.187000	0.17357	CTA	DPCR1	-	NULL		0.443	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917085	+1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.000	G
DPEP2	64174	genome.wustl.edu	37	16	68026435	68026435	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:68026435C>G	ENST00000572888.1	-	2	1018	c.368G>C	c.(367-369)aGa>aCa	p.R123T	DPEP2_ENST00000412757.2_Missense_Mutation_p.R123T|DPEP2_ENST00000393847.1_Missense_Mutation_p.R123T			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	123					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GAGGCCATCTCTAAGCCTGTC	0.592																																																	0													90.0	84.0	86.0					16																	68026435		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.368G>C	16.37:g.68026435C>G	ENSP00000458977:p.Arg123Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	pfam_Peptidase_M19	p.R123T	ENST00000572888.1	37	c.368	CCDS10857.1	16	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576942	0.45902	.	.	ENSG00000167261	ENST00000393847;ENST00000412757	T;T	0.26067	1.76;1.76	3.69	-2.08	0.07254	.	0.602763	0.17496	N	0.172174	T	0.23171	0.0560	M	0.67397	2.05	0.80722	D	1	B	0.32467	0.372	B	0.35413	0.202	T	0.06180	-1.0841	10	0.62326	D	0.03	-0.117	5.212	0.15322	0.0:0.2754:0.167:0.5577	.	123	Q9H4A9	DPEP2_HUMAN	T	123	ENSP00000377430:R123T;ENSP00000412549:R123T	ENSP00000377430:R123T	R	-	2	0	DPEP2	66583936	0.000000	0.05858	0.871000	0.34182	0.991000	0.79684	-0.141000	0.10327	-0.365000	0.08076	0.561000	0.74099	AGA	DPEP2	-	pfam_Peptidase_M19		0.592	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP2	HGNC	protein_coding	OTTHUMT00000437026.1	C	NM_022355		68026435	-1	no_errors	ENST00000393847	ensembl	human	known	70_37	missense	SNP	0.976	G
DPY19L2P1	554236	genome.wustl.edu	37	7	35161205	35161205	+	IGR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:35161205G>A								DPY19L2P1 (13859 upstream) : TBX20 (80836 downstream)																							GCTGCTATAAGATCACTCAGG	0.328																																																	0																																										SO:0001628	intergenic_variant	554236																															7.37:g.35161205G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		7																																																																																			DPY19L2P1	-	-	0	0.328					DPY19L2P1	HGNC			G			35161205	-1	no_errors	ENST00000458672	ensembl	human	known	70_37	rna	SNP	0.994	A
DPY30	84661	genome.wustl.edu	37	2	32254698	32254698	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:32254698G>C	ENST00000342166.5	-	4	307	c.192C>G	c.(190-192)atC>atG	p.I64M	DPY30_ENST00000295066.3_Missense_Mutation_p.I64M			Q9C005	DPY30_HUMAN	dpy-30 homolog (C. elegans)	64					endosomal transport (GO:0016197)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			large_intestine(2)	2	Acute lymphoblastic leukemia(172;0.155)					CCTGTAATAAGATAGGCACAA	0.393																																																	0													148.0	146.0	147.0					2																	32254698		2203	4300	6503	SO:0001583	missense	84661				CCDS1777.1	2p22.3	2013-09-09			ENSG00000162961	ENSG00000162961			24590	protein-coding gene	gene with protein product		612032				12477932	Standard	XM_006712117		Approved	Saf19, HDPY-30, Cps25	uc002roa.1	Q9C005	OTTHUMG00000128457	ENST00000342166.5:c.192C>G	2.37:g.32254698G>C	ENSP00000345837:p.Ile64Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W578	Missense_Mutation	SNP	pfam_Dpy-30_motif	p.I64M	ENST00000342166.5	37	c.192	CCDS1777.1	2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696980	0.68386	.	.	ENSG00000162961	ENST00000342166;ENST00000295066	T;T	0.76448	-1.02;-1.02	6.08	1.79	0.24919	Dpy-30 motif (1);	0.000000	0.85682	D	0.000000	T	0.79003	0.4373	.	.	.	0.80722	D	1	P	0.48998	0.918	P	0.52957	0.714	T	0.76876	-0.2797	9	0.87932	D	0	-25.0828	6.2102	0.20626	0.2077:0.0:0.5638:0.2285	.	64	Q9C005	DPY30_HUMAN	M	64	ENSP00000345837:I64M;ENSP00000295066:I64M	ENSP00000295066:I64M	I	-	3	3	DPY30	32108202	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.623000	0.37008	0.455000	0.26910	0.591000	0.81541	ATC	DPY30	-	pfam_Dpy-30_motif		0.393	DPY30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY30	HGNC	protein_coding	OTTHUMT00000250255.2	G	NM_032574		32254698	-1	no_errors	ENST00000422413	ensembl	human	known	70_37	missense	SNP	1.000	C
DSP	1832	genome.wustl.edu	37	6	7559466	7559466	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:7559466C>G	ENST00000379802.3	+	4	771	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	DSP_ENST00000418664.2_Missense_Mutation_p.Q144E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	144	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CAGGCTTCTTCAGCTCCAAGA	0.493																																																	0													88.0	95.0	93.0					6																	7559466		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.430C>G	6.37:g.7559466C>G	ENSP00000369129:p.Gln144Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Q144E	ENST00000379802.3	37	c.430	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554034	0.86231	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.74632	-0.52;-0.86	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000007	T	0.73783	0.3631	N	0.24115	0.695	0.44635	D	0.997617	P;P	0.49447	0.924;0.924	P;P	0.62298	0.9;0.9	T	0.76063	-0.3096	10	0.54805	T	0.06	.	19.7866	0.96442	0.0:1.0:0.0:0.0	.	191;144	Q4LE79;P15924	.;DESP_HUMAN	E	144	ENSP00000369129:Q144E;ENSP00000396591:Q144E	ENSP00000369129:Q144E	Q	+	1	0	DSP	7504465	0.999000	0.42202	0.999000	0.59377	0.908000	0.53690	5.253000	0.65452	2.756000	0.94617	0.655000	0.94253	CAG	DSP	-	NULL		0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7559466	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56471763	56471763	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:56471763C>G	ENST00000361203.3	-	36	7037	c.7030G>C	c.(7030-7032)Gaa>Caa	p.E2344Q	DST_ENST00000312431.6_Missense_Mutation_p.E2344Q|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.E2344Q|DST_ENST00000446842.2_Missense_Mutation_p.E2018Q|DST_ENST00000370754.5_Missense_Mutation_p.E2522Q|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2344					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAATACTCTTCTATTTCAGAC	0.408																																																	0													142.0	136.0	138.0					6																	56471763		1990	4156	6146	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.7030G>C	6.37:g.56471763C>G	ENSP00000354508:p.Glu2344Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2522Q	ENST00000361203.3	37	c.7564		6	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451496	0.43531	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	T;T;T;D;T;T	0.84589	-0.37;-0.39;0.53;-1.87;-0.4;-0.7	5.64	2.45	0.29901	.	0.847359	0.10361	N	0.684015	T	0.65101	0.2659	.	.	.	0.30798	N	0.740163	B	0.24963	0.115	B	0.23419	0.046	T	0.55817	-0.8081	8	0.66056	D	0.02	.	6.7088	0.23266	0.0:0.6875:0.1424:0.1702	.	2018	Q03001-9	.	Q	2522;2344;2018;2344;2344;2018	ENSP00000359790:E2522Q;ENSP00000359805:E2344Q;ENSP00000393645:E2018Q;ENSP00000307959:E2344Q;ENSP00000354508:E2344Q;ENSP00000404924:E2018Q	ENSP00000307959:E2344Q	E	-	1	0	DST	56579722	0.000000	0.05858	0.002000	0.10522	0.186000	0.23388	0.576000	0.23744	0.607000	0.29982	0.455000	0.32223	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.408	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56471763	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	0.004	G
DSE	29940	genome.wustl.edu	37	6	116754694	116754694	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:116754694C>T	ENST00000331677.3	+	6	1543	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L	DSE_ENST00000452085.3_Silent_p.L367L|DSE_ENST00000537543.1_Silent_p.L386L|DSE_ENST00000359564.2_Silent_p.L367L			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	367					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTGGTGCACTCTGCACACAGA	0.468																																																	0													46.0	37.0	40.0					6																	116754694		2203	4299	6502	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1099C>T	6.37:g.116754694C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R3K6	Silent	SNP	superfamily_Chondroitin_lyas	p.L386	ENST00000331677.3	37	c.1156	CCDS5107.1	6																																																																																			DSE	-	NULL		0.468	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	C	NM_013352		116754694	+1	no_errors	ENST00000537543	ensembl	human	known	70_37	silent	SNP	0.995	T
DTNA	1837	genome.wustl.edu	37	18	32418088	32418088	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:32418088G>A	ENST00000399113.3	+	11	1125	c.1125G>A	c.(1123-1125)caG>caA	p.Q375Q	DTNA_ENST00000399121.5_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000348997.5_Silent_p.Q372Q|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000444659.1_Silent_p.Q375Q|DTNA_ENST00000269192.7_Silent_p.Q84Q|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000399097.3_Silent_p.Q54Q|DTNA_ENST00000591182.1_Silent_p.Q54Q|DTNA_ENST00000269191.6_Silent_p.Q375Q|DTNA_ENST00000269190.7_Silent_p.Q376Q|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000598334.1_Intron			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	375					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTAGAGCAGAACAAACTGC	0.453																																																	0													93.0	79.0	83.0					18																	32418088		2203	4300	6503	SO:0001819	synonymous_variant	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1125G>A	18.37:g.32418088G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.Q376	ENST00000399113.3	37	c.1128	CCDS59311.1	18																																																																																			DTNA	-	pirsf_Distrobrevin		0.453	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	DTNA	HGNC	protein_coding	OTTHUMT00000255422.2	G	NM_001390		32418088	+1	no_errors	ENST00000269190	ensembl	human	known	70_37	silent	SNP	1.000	A
DTNB	1838	genome.wustl.edu	37	2	25705727	25705727	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:25705727C>T	ENST00000406818.3	-	10	1266	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	DTNB_ENST00000545439.1_Silent_p.L135L|DTNB_ENST00000407661.3_Silent_p.L339L|DTNB_ENST00000496972.2_Silent_p.L282L|DTNB_ENST00000405222.1_Silent_p.L339L|DTNB_ENST00000404103.3_Silent_p.L339L|DTNB_ENST00000407186.1_Silent_p.L339L|DTNB_ENST00000407038.3_Silent_p.L339L|DTNB_ENST00000288642.8_Silent_p.L339L	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	339						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATATTAGTCAGAGGGCGAG	0.463																																																	0													89.0	89.0	89.0					2																	25705727		2009	4156	6165	SO:0001819	synonymous_variant	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1017G>A	2.37:g.25705727C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Silent	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.L339	ENST00000406818.3	37	c.1017	CCDS46237.1	2																																																																																			DTNB	-	pirsf_Distrobrevin		0.463	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	C	NM_033147		25705727	-1	no_errors	ENST00000406818	ensembl	human	known	70_37	silent	SNP	0.998	T
Y_RNA	0	genome.wustl.edu	37	7	76669373	76669373	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:76669373G>C	ENST00000365089.1	+	0	0																											GAAGATAGTAGAAAACAGTCT	0.423																																																	0																																												441263																															7.37:g.76669373G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000365089.1	37	NULL		7																																																																																			DTX2P1-UPK3BP1-PMS2P11	-	-		0.423	Y_RNA.341-201	NOVEL	basic	misc_RNA	DTX2P1-UPK3BP1-PMS2P11	HGNC	misc_RNA		G			76669373	+1	no_errors	ENST00000579700	ensembl	human	known	70_37	rna	SNP	1.000	C
DYNC1H1	1778	genome.wustl.edu	37	14	102467876	102467876	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:102467876G>T	ENST00000360184.4	+	21	4564	c.4400G>T	c.(4399-4401)aGa>aTa	p.R1467I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1467	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATTCAGATAAGAGAAGTGTGG	0.418																																																	0													144.0	135.0	138.0					14																	102467876		2203	4300	6503	SO:0001583	missense	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4400G>T	14.37:g.102467876G>T	ENSP00000348965:p.Arg1467Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R1467I	ENST00000360184.4	37	c.4400	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777937	0.70107	.	.	ENSG00000197102	ENST00000360184	T	0.61627	0.09	5.72	5.72	0.89469	Dynein heavy chain, domain-2 (1);	0.628588	0.16331	N	0.219135	T	0.73674	0.3617	M	0.79805	2.47	0.80722	D	1	P	0.49696	0.927	P	0.54060	0.741	T	0.70876	-0.4753	10	0.32370	T	0.25	.	19.8745	0.96864	0.0:0.0:1.0:0.0	.	1467	Q14204	DYHC1_HUMAN	I	1467	ENSP00000348965:R1467I	ENSP00000348965:R1467I	R	+	2	0	DYNC1H1	101537629	1.000000	0.71417	0.927000	0.36925	0.285000	0.27093	7.613000	0.82986	2.704000	0.92352	0.467000	0.42956	AGA	DYNC1H1	-	pfam_Dynein_heavy_dom-2		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102467876	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	missense	SNP	0.965	T
DYNC1I2	1781	genome.wustl.edu	37	2	172585296	172585296	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:172585296G>A	ENST00000397119.3	+	14	1494	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	DYNC1I2_ENST00000409317.1_Missense_Mutation_p.D437N|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.D443N|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.D417N|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.D443N|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.D435N|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.D417N|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.D443N|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.D417N|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.D435N|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.D437N	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	443					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			CCCTGTTGGAGATGTCAACAA	0.393																																																	0													66.0	65.0	65.0					2																	172585296		1867	4095	5962	SO:0001583	missense	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1327G>A	2.37:g.172585296G>A	ENSP00000380308:p.Asp443Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.D443N	ENST00000397119.3	37	c.1327	CCDS46450.1	2	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691290	0.88735	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.79247	-1.12;-1.25;-1.12;-1.03;-0.89;-0.89;-1.12;-1.12;-1.03;-0.88;-0.89	6.07	6.07	0.98685	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	0.86789	0.6017	L	0.56199	1.76	0.80722	D	1	B;D;P;P;D	0.89917	0.187;1.0;0.485;0.485;1.0	B;D;B;B;D	0.91635	0.134;0.999;0.346;0.398;0.999	D	0.85259	0.1049	10	0.51188	T	0.08	-24.0855	20.6593	0.99626	0.0:0.0:1.0:0.0	.	166;435;417;417;443	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	N	417;443;437;443;435;417;417;437;443;443;435	ENSP00000339430:D417N;ENSP00000433791:D443N;ENSP00000263811:D437N;ENSP00000380308:D443N;ENSP00000386522:D435N;ENSP00000423339:D417N;ENSP00000386397:D417N;ENSP00000386591:D437N;ENSP00000386415:D443N;ENSP00000386886:D443N;ENSP00000350692:D435N	ENSP00000263811:D437N	D	+	1	0	DYNC1I2	172293542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GAT	DYNC1I2	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.393	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	G	NM_001378		172585296	+1	no_errors	ENST00000397119	ensembl	human	known	70_37	missense	SNP	1.000	A
E2F3	1871	genome.wustl.edu	37	6	20480156	20480156	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:20480156G>A	ENST00000346618.3	+	2	539	c.473G>A	c.(472-474)aGa>aAa	p.R158K	E2F3_ENST00000535432.1_Missense_Mutation_p.R33K	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	158					mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			GGCAAAGGAAGAGCTGCACTA	0.443																																																	0													60.0	56.0	57.0					6																	20480156		2203	4300	6503	SO:0001583	missense	1871			Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.473G>A	6.37:g.20480156G>A	ENSP00000262904:p.Arg158Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	pfam_E2F_TDP	p.R158K	ENST00000346618.3	37	c.473	CCDS4545.1	6	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951865	0.53293	.	.	ENSG00000112242	ENST00000378646;ENST00000346618;ENST00000535432	T;T	0.06449	3.3;3.33	6.16	6.16	0.99307	.	0.091548	0.64402	D	0.000001	T	0.03305	0.0096	L	0.34521	1.04	0.39416	D	0.966835	B;B	0.22683	0.073;0.007	B;B	0.26094	0.066;0.013	T	0.48115	-0.9063	10	0.13853	T	0.58	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	158;33	O00716;Q68DT0	E2F3_HUMAN;.	K	43;158;33	ENSP00000262904:R158K;ENSP00000443418:R33K	ENSP00000262904:R158K	R	+	2	0	E2F3	20588135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.839000	0.62810	2.937000	0.99478	0.650000	0.86243	AGA	E2F3	-	NULL		0.443	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	E2F3	HGNC	protein_coding	OTTHUMT00000043828.1	G			20480156	+1	no_errors	ENST00000346618	ensembl	human	known	70_37	missense	SNP	1.000	A
EDA	1896	genome.wustl.edu	37	X	69177047	69177047	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:69177047G>A	ENST00000374552.4	+	2	744				EDA_ENST00000524573.1_Intron|EDA_ENST00000374553.2_Intron|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A						cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ATCCTTTTAAGAACTACCTTC	0.433																																																	0													62.0	60.0	61.0					X																	69177047		2202	4300	6502	SO:0001627	intron_variant	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.502+65G>A	X.37:g.69177047G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	RNA	SNP	-	NULL	ENST00000374552.4	37	NULL	CCDS14394.1	X																																																																																			EDA	-	-		0.433	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDA	HGNC	protein_coding	OTTHUMT00000057048.2	G	NM_001399		69177047	+1	no_errors	ENST00000502251	ensembl	human	known	70_37	rna	SNP	0.002	A
EEF1E1	9521	genome.wustl.edu	37	6	8097678	8097678	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:8097678T>C	ENST00000379715.5	-	2	166	c.110A>G	c.(109-111)aAt>aGt	p.N37S	EEF1E1_ENST00000429723.2_Missense_Mutation_p.N37S|EEF1E1_ENST00000507463.1_Missense_Mutation_p.N37S|EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.N37S	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	37	N-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACTTGGACCATTGTTTGTCTG	0.353																																																	0													82.0	74.0	77.0					6																	8097678		2203	4300	6503	SO:0001583	missense	9521			AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.110A>G	6.37:g.8097678T>C	ENSP00000369038:p.Asn37Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JLK5|Q5THS2	Missense_Mutation	SNP	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like	p.N37S	ENST00000379715.5	37	c.110	CCDS4507.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.06|10.06	1.246207|1.246207	0.22796|0.22796	.|.	.|.	ENSG00000124802|ENSG00000124802	ENST00000502429|ENST00000429723;ENST00000379715;ENST00000507463;ENST00000488226	.|T;T;T	.|0.14516	.|3.39;3.39;2.5	5.62|5.62	1.55|1.55	0.23275|0.23275	.|Thioredoxin-like fold (1);	.|0.431542	.|0.29861	.|N	.|0.011014	T|T	0.02533|0.02533	0.0077|0.0077	N|N	0.21097|0.21097	0.63|0.63	0.33639|0.33639	D|D	0.607036|0.607036	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.45425|0.45425	-0.9262|-0.9262	5|9	.|.	.|.	.|.	-11.2502|-11.2502	9.2739|9.2739	0.37688|0.37688	0.0:0.3778:0.0:0.6222|0.0:0.3778:0.0:0.6222	.|.	.|37;37	.|C9JLK5;O43324	.|.;MCA3_HUMAN	V|S	24|37;37;37;49	.|ENSP00000414363:N37S;ENSP00000369038:N37S;ENSP00000425577:N49S	.|.	M|N	-|-	1|2	0|0	EEF1E1|EEF1E1	8042677|8042677	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.995000|0.995000	0.86356|0.86356	0.596000|0.596000	0.24044|0.24044	0.029000|0.029000	0.15352|0.15352	-0.290000|-0.290000	0.09829|0.09829	ATG|AAT	EEF1E1	-	NULL		0.353	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1E1	HGNC	protein_coding	OTTHUMT00000039799.2	T	NM_004280		8097678	-1	no_errors	ENST00000379715	ensembl	human	known	70_37	missense	SNP	0.999	C
EFCAB5	374786	genome.wustl.edu	37	17	28382920	28382920	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:28382920G>A	ENST00000394835.3	+	11	2401	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	EFCAB5_ENST00000536908.2_Missense_Mutation_p.E681K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E737K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.E394K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E737K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E737K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	737							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TACAAAAAAGGAAGTTCAGAA	0.333																																																	0													114.0	106.0	108.0					17																	28382920		1825	4085	5910	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2209G>A	17.37:g.28382920G>A	ENSP00000378312:p.Glu737Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.E737K	ENST00000394835.3	37	c.2209	CCDS11254.2	17	.	.	.	.	.	.	.	.	.	.	G	0.500	-0.871279	0.02570	.	.	ENSG00000176927	ENST00000536908;ENST00000534836;ENST00000541045;ENST00000394835;ENST00000320856;ENST00000394832;ENST00000378738;ENST00000423598;ENST00000419434	T;T;T;T;T;T;T	0.48201	1.81;0.82;2.83;2.87;2.15;1.8;2.89	5.11	0.589	0.17452	.	1.726240	0.03119	N	0.163436	T	0.39655	0.1086	M	0.62723	1.935	0.09310	N	1	B;B;B;B;B;B	0.20887	0.029;0.049;0.049;0.049;0.046;0.008	B;B;B;B;B;B	0.20184	0.012;0.028;0.018;0.018;0.014;0.011	T	0.16600	-1.0397	10	0.02654	T	1	-3.1083	4.168	0.10315	0.2887:0.1722:0.5392:0.0	.	681;681;737;737;737;737	B4DS75;F5GYL2;A8MSY9;B5MEA3;E7EVS9;A4FU69	.;.;.;.;.;EFCB5_HUMAN	K	681;480;394;737;737;737;737;681;543	ENSP00000440619:E681K;ENSP00000445575:E394K;ENSP00000378312:E737K;ENSP00000322003:E737K;ENSP00000378309:E737K;ENSP00000368012:E737K;ENSP00000417009:E543K	ENSP00000322003:E737K	E	+	1	0	EFCAB5	25407046	0.006000	0.16342	0.000000	0.03702	0.769000	0.43574	0.726000	0.25984	0.270000	0.21984	0.585000	0.79938	GAA	EFCAB5	-	NULL		0.333	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	G	NM_198529		28382920	+1	no_errors	ENST00000394835	ensembl	human	known	70_37	missense	SNP	0.000	A
EHHADH	1962	genome.wustl.edu	37	3	184971748	184971748	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:184971748G>A	ENST00000231887.3	-	1	138	c.63C>T	c.(61-63)gtC>gtT	p.V21V	EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000440662.1_Silent_p.V21V|EHHADH_ENST00000475987.1_5'UTR|hsa-mir-5588_ENST00000581890.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	21	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TGATCGCGTTGACCGGCGGGT	0.667																																																	0													41.0	43.0	42.0					3																	184971748		2203	4300	6503	SO:0001819	synonymous_variant	1962			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.63C>T	3.37:g.184971748G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	pfam_Crotonase_core,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.V21	ENST00000231887.3	37	c.63	CCDS33901.1	3																																																																																			EHHADH	-	pfam_Crotonase_core		0.667	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	HGNC	protein_coding	OTTHUMT00000345326.1	G			184971748	-1	no_errors	ENST00000231887	ensembl	human	known	70_37	silent	SNP	0.994	A
EHMT2	10919	genome.wustl.edu	37	6	31848581	31848581	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31848581G>A	ENST00000375537.4	-	27	3327	c.3321C>T	c.(3319-3321)atC>atT	p.I1107I	SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000395728.3_Silent_p.I1164I|EHMT2_ENST00000375530.4_Silent_p.I1073I|EHMT2_ENST00000375528.4_Silent_p.I1130I|EHMT2-AS1_ENST00000434689.1_RNA|SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1107	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGAAGCGGCTGATGTTGCCAT	0.572																																																	0													165.0	119.0	135.0					6																	31848581		2203	4300	6503	SO:0001819	synonymous_variant	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3321C>T	6.37:g.31848581G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.I1164	ENST00000375537.4	37	c.3492	CCDS4725.1	6																																																																																			EHMT2	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.572	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	G	NM_006709		31848581	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	silent	SNP	1.000	A
EIF3B	8662	genome.wustl.edu	37	7	2406170	2406170	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:2406170G>A	ENST00000360876.4	+	8	1356	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	EIF3B_ENST00000397011.2_Missense_Mutation_p.D434N	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGAGCCATGATGGCAAATT	0.468																																																	0													91.0	89.0	90.0					7																	2406170		2203	4300	6503	SO:0001583	missense	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1300G>A	7.37:g.2406170G>A	ENSP00000354125:p.Asp434Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom	p.D434N	ENST00000360876.4	37	c.1300	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.537208	0.96460	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.10288	2.89;2.89	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	M	0.67700	2.07	0.80722	D	1	D	0.55605	0.972	P	0.55965	0.788	T	0.00503	-1.1701	10	0.62326	D	0.03	-37.0483	19.557	0.95354	0.0:0.0:1.0:0.0	.	434	P55884	EIF3B_HUMAN	N	434;434;434;358	ENSP00000354125:D434N;ENSP00000380206:D434N	ENSP00000316638:D434N	D	+	1	0	EIF3B	2372696	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.621000	0.98376	2.623000	0.88846	0.650000	0.86243	GAT	EIF3B	-	pirsf_eIF3b		0.468	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	G			2406170	+1	no_errors	ENST00000360876	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF3D	8664	genome.wustl.edu	37	22	36913354	36913354	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:36913354C>G	ENST00000216190.8	-	10	1354	c.984G>C	c.(982-984)ttG>ttC	p.L328F	EIF3D_ENST00000405442.1_Missense_Mutation_p.L328F|EIF3D_ENST00000541106.1_Missense_Mutation_p.L279F	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TCACCATTCTCAAGCACTGCT	0.483																																																	0													140.0	119.0	126.0					22																	36913354		2203	4300	6503	SO:0001583	missense	8664			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.984G>C	22.37:g.36913354C>G	ENSP00000216190:p.Leu328Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EIF-3_zeta,pirsf_EIF-3_zeta	p.L328F	ENST00000216190.8	37	c.984	CCDS13930.1	22	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534145	0.64972	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000541106;ENST00000405442;ENST00000458572	.	.	.	5.95	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79305	0.4423	M	0.85462	2.755	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81885	-0.0727	9	0.87932	D	0	-7.933	10.1387	0.42723	0.1357:0.7959:0.0:0.0684	.	279;328	B4DVY1;O15371	.;EIF3D_HUMAN	F	328;313;279;328;15	.	ENSP00000216190:L328F	L	-	3	2	EIF3D	35243300	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.121000	0.31283	1.525000	0.49052	-0.157000	0.13467	TTG	EIF3D	-	pfam_EIF-3_zeta,pirsf_EIF-3_zeta		0.483	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	C			36913354	-1	no_errors	ENST00000216190	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF4B	1975	genome.wustl.edu	37	12	53410310	53410310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53410310G>T	ENST00000262056.9	+	2	393	c.67G>T	c.(67-69)Gag>Tag	p.E23*	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Nonsense_Mutation_p.E23*|EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.2_ENST00000435621.3_RNA|EIF4B_ENST00000420463.3_Nonsense_Mutation_p.E23*|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	23					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCTGGCTGAGGATGGGGG	0.428																																																	0													98.0	91.0	93.0					12																	53410310		1830	4075	5905	SO:0001587	stop_gained	1975			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.67G>T	12.37:g.53410310G>T	ENSP00000262056:p.Glu23*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E23*	ENST00000262056.9	37	c.67	CCDS41788.1	12	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173699	0.78452	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	.	.	.	4.65	4.65	0.58169	.	0.052527	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	16.9794	0.86323	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000262056:E23X	E	+	1	0	EIF4B	51696577	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	9.528000	0.98046	2.511000	0.84671	0.561000	0.74099	GAG	EIF4B	-	NULL		0.428	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	HGNC	protein_coding	OTTHUMT00000404852.2	G	NM_001417		53410310	+1	no_errors	ENST00000262056	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ELMSAN1	91748	genome.wustl.edu	37	14	74196458	74196458	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:74196458G>C	ENST00000286523.5	-	4	2762	c.1980C>G	c.(1978-1980)ctC>ctG	p.L660L	ELMSAN1_ENST00000394071.2_Silent_p.L660L	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	660					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCACAGGGCTGAGGATGGGGG	0.627																																																	0													72.0	65.0	67.0					14																	74196458		2203	4300	6503	SO:0001819	synonymous_variant	91748			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1980C>G	14.37:g.74196458G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK13|Q6PK59|Q6ZS23	Silent	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.L660	ENST00000286523.5	37	c.1980	CCDS9819.1	14																																																																																			ELMSAN1	-	NULL		0.627	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	G	NM_194278		74196458	-1	no_errors	ENST00000286523	ensembl	human	known	70_37	silent	SNP	0.997	C
EMCN	51705	genome.wustl.edu	37	4	101344472	101344472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:101344472G>A	ENST00000296420.4	-	6	683	c.505C>T	c.(505-507)Caa>Taa	p.Q169*	EMCN_ENST00000511970.1_Nonsense_Mutation_p.Q156*|EMCN_ENST00000305864.3_Intron	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	169						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		ATCATACCTTGAGACTGTGAG	0.413																																																	0													195.0	174.0	181.0					4																	101344472		2203	4300	6503	SO:0001587	stop_gained	51705			AF205940	CCDS3655.1, CCDS54782.1	4q22.1	2008-02-05			ENSG00000164035	ENSG00000164035		"""Mucins"""	16041	protein-coding gene	gene with protein product		608350				11418125, 11594763	Standard	NM_016242		Approved	MUC14	uc003hvr.3	Q9ULC0	OTTHUMG00000131051	ENST00000296420.4:c.505C>T	4.37:g.101344472G>A	ENSP00000296420:p.Gln169*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K716|B4E347|Q8NEY5|Q8WWE7|Q9NRM8	Nonsense_Mutation	SNP	pfam_Endomucin	p.Q169*	ENST00000296420.4	37	c.505	CCDS3655.1	4	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959480	0.53400	.	.	ENSG00000164035	ENST00000296420;ENST00000511970	.	.	.	3.5	2.63	0.31362	.	0.766523	0.10667	N	0.648032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	8.8808	0.35374	0.0:0.2292:0.7708:0.0	.	.	.	.	X	169;156	.	ENSP00000296420:Q169X	Q	-	1	0	EMCN	101563495	0.989000	0.36119	0.510000	0.27712	0.177000	0.22998	2.004000	0.40854	1.047000	0.40274	0.479000	0.44913	CAA	EMCN	-	pfam_Endomucin		0.413	EMCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMCN	HGNC	protein_coding	OTTHUMT00000253699.2	G	NM_016242		101344472	-1	no_errors	ENST00000296420	ensembl	human	known	70_37	nonsense	SNP	0.547	A
EML4	27436	genome.wustl.edu	37	2	42490404	42490404	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:42490404C>G	ENST00000318522.5	+	5	861	c.599C>G	c.(598-600)tCa>tGa	p.S200*	EML4_ENST00000401738.3_Nonsense_Mutation_p.S200*|EML4_ENST00000402711.2_Nonsense_Mutation_p.S142*	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	200					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AAAATACCTTCAACACCCAAA	0.318			T	ALK	NSCLC																																			Dom	yes		2	2p21	27436	echinoderm microtubule associated protein like 4		E	0													86.0	83.0	84.0					2																	42490404		2203	4300	6503	SO:0001587	stop_gained	27436			AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.599C>G	2.37:g.42490404C>G	ENSP00000320663:p.Ser200*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Nonsense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S200*	ENST00000318522.5	37	c.599	CCDS1807.1	2	.	.	.	.	.	.	.	.	.	.	c	36	5.921375	0.97105	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	.	.	.	5.36	5.36	0.76844	.	0.516357	0.18299	N	0.145468	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-2.7531	19.1108	0.93315	0.0:1.0:0.0:0.0	.	.	.	.	X	200;142;200	.	ENSP00000320663:S200X	S	+	2	0	EML4	42343908	1.000000	0.71417	0.998000	0.56505	0.741000	0.42261	2.723000	0.47277	2.527000	0.85204	0.558000	0.71614	TCA	EML4	-	NULL		0.318	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EML4	HGNC	protein_coding	OTTHUMT00000250463.3	C	NM_019063		42490404	+1	no_errors	ENST00000318522	ensembl	human	known	70_37	nonsense	SNP	1.000	G
EMR2	30817	genome.wustl.edu	37	19	14867138	14867138	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:14867138C>G	ENST00000315576.3	-	12	1555	c.1104G>C	c.(1102-1104)caG>caC	p.Q368H	EMR2_ENST00000392965.3_Missense_Mutation_p.Q368H|EMR2_ENST00000353876.1_Missense_Mutation_p.Q275H|EMR2_ENST00000392964.3_Missense_Mutation_p.Q107H|EMR2_ENST00000353005.1_Missense_Mutation_p.Q226H|EMR2_ENST00000594294.1_Missense_Mutation_p.Q319H|EMR2_ENST00000595839.1_Missense_Mutation_p.Q226H|EMR2_ENST00000596991.2_Missense_Mutation_p.Q368H|EMR2_ENST00000601345.1_Missense_Mutation_p.Q368H|EMR2_ENST00000392967.2_Missense_Mutation_p.Q368H|EMR2_ENST00000594076.1_Missense_Mutation_p.Q275H|EMR2_ENST00000346057.1_Missense_Mutation_p.Q319H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	368					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTACTTGCTTCTGCACCTCCA	0.468																																																	0													133.0	108.0	116.0					19																	14867138		2203	4300	6503	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1104G>C	19.37:g.14867138C>G	ENSP00000319883:p.Gln368His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.Q368H	ENST00000315576.3	37	c.1104	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089407	0.36855	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965;ENST00000392964;ENST00000392962	T;T;T;T;T;T;T;T	0.79845	-0.97;-1.12;-0.5;0.29;1.02;-1.31;1.35;-1.19	2.86	1.75	0.24633	.	.	.	.	.	D	0.83436	0.5254	M	0.71036	2.16	0.09310	N	1	D;D;B;B;B;B;B;B	0.56521	0.976;0.964;0.039;0.317;0.08;0.086;0.006;0.037	P;P;B;B;B;B;B;B	0.60789	0.556;0.879;0.01;0.149;0.077;0.022;0.004;0.077	T	0.70572	-0.4835	9	0.15499	T	0.54	.	6.8157	0.23829	0.2778:0.7222:0.0:0.0	.	368;275;368;226;319;368;368;368	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	H	368;368;319;275;226;368;107;319	ENSP00000319883:Q368H;ENSP00000376694:Q368H;ENSP00000263380:Q319H;ENSP00000319454:Q275H;ENSP00000319838:Q226H;ENSP00000376692:Q368H;ENSP00000376691:Q107H;ENSP00000376689:Q319H	ENSP00000319883:Q368H	Q	-	3	2	EMR2	14728138	0.004000	0.15560	0.001000	0.08648	0.010000	0.07245	2.321000	0.43805	0.708000	0.31955	0.508000	0.49915	CAG	EMR2	-	prints_GPCR_2_CD97		0.468	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	C			14867138	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	missense	SNP	0.001	G
ENAH	55740	genome.wustl.edu	37	1	225706921	225706921	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:225706921C>T	ENST00000366844.3	-	5	1232	c.781G>A	c.(781-783)Gag>Aag	p.E261K	ENAH_ENST00000366843.2_Missense_Mutation_p.E261K|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000284563.6_Missense_Mutation_p.E280K	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	261					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		ATTCTGCGCTCTCTCTCCCAT	0.453																																																	0													266.0	264.0	264.0					1																	225706921		2203	4300	6503	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.781G>A	1.37:g.225706921C>T	ENSP00000355809:p.Glu261Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1	p.E261K	ENST00000366844.3	37	c.781	CCDS31041.1	1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421085	0.83559	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.38240	1.15;1.15;1.15	5.35	5.35	0.76521	.	0.279327	0.34223	N	0.004147	T	0.49133	0.1539	L	0.29908	0.895	0.48762	D	0.999707	D;D	0.71674	0.998;0.996	D;P	0.66084	0.941;0.874	T	0.49588	-0.8924	10	0.56958	D	0.05	-14.7883	19.0667	0.93114	0.0:1.0:0.0:0.0	.	261;261	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	K	261;261;280;260	ENSP00000355809:E261K;ENSP00000355808:E261K;ENSP00000284563:E280K	ENSP00000284563:E280K	E	-	1	0	ENAH	223773544	1.000000	0.71417	0.995000	0.50966	0.848000	0.48234	6.608000	0.74168	2.491000	0.84063	0.650000	0.86243	GAG	ENAH	-	NULL		0.453	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENAH	HGNC	protein_coding	OTTHUMT00000357426.2	C	NM_018212		225706921	-1	no_errors	ENST00000366844	ensembl	human	known	70_37	missense	SNP	1.000	T
ENPP3	5169	genome.wustl.edu	37	6	132061484	132061484	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:132061484C>T	ENST00000414305.1	+	25	2749	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Silent_p.I807I			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	807	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TACCCTTTATCATCCCTCACC	0.517																																																	0													131.0	115.0	121.0					6																	132061484		2203	4300	6503	SO:0001819	synonymous_variant	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2421C>T	6.37:g.132061484C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTL3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.I807	ENST00000414305.1	37	c.2421	CCDS5148.1	6																																																																																			ENPP3	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.517	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	C			132061484	+1	no_errors	ENST00000357639	ensembl	human	known	70_37	silent	SNP	0.994	T
LILRP2	79166	genome.wustl.edu	37	19	55221572	55221572	+	RNA	SNP	G	G	A	rs546373602		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:55221572G>A	ENST00000413439.1	+	0	1352									leukocyte immunoglobulin-like receptor pseudogene 2																		CAGATGCTACGGTGCACACAA	0.677													.|||	1	0.000199681	0.0	0.0	5008	,	,		16580	0.0		0.0	False		,,,				2504	0.001				Ovarian(107;788 1543 20399 31552 46707)												0																																												0			AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221572G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000413439.1	37	NULL		19																																																																																			AC006293.3	-	-		0.677	LILRP2-002	KNOWN	basic	processed_transcript	ENSG00000170858	Clone_based_vega_gene	pseudogene	OTTHUMT00000141240.2	G	NM_024317		55221572	+1	no_errors	ENST00000413439	ensembl	human	known	70_37	rna	SNP	0.000	A
UNK	85451	genome.wustl.edu	37	17	73817463	73817463	+	Intron	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:73817463C>A	ENST00000589666.1	+	14	1947				UNK_ENST00000293218.3_Intron|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGATCCTCCTGAGAATCA	0.577																																																	0																																										SO:0001627	intron_variant	0			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1838-1095C>A	17.37:g.73817463C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R164S	ENST00000589666.1	37	c.492	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	C	2.653	-0.281559	0.05642	.	.	ENSG00000178932	ENST00000326348	.	.	.	1.65	-1.02	0.10135	.	.	.	.	.	T	0.38427	0.1040	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41124	-0.9526	5	0.87932	D	0	.	6.2142	0.20646	0.4437:0.5563:0.0:0.0	.	.	.	.	S	164	.	ENSP00000320657:R164S	R	-	3	2	AC087289.1	71329058	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.435000	0.01020	-0.269000	0.09298	-0.274000	0.10170	AGG	AC087289.1	-	NULL		0.577	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000178932	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000448835.1	C	NM_001080419		73817463	-1	no_errors	ENST00000326348	ensembl	human	known	70_37	missense	SNP	0.000	A
EIF2S3L	0	genome.wustl.edu	37	12	10658646	10658646	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:10658646C>T	ENST00000538173.1	+	1	158	c.145C>T	c.(145-147)Cat>Tat	p.H49Y	EIF2S3L_ENST00000322446.3_Missense_Mutation_p.H49Y			Q2VIR3	IF2GL_HUMAN		49	G1. {ECO:0000255|PROSITE- ProRule:PRU01059}.|tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.						GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation initiation factor activity (GO:0003743)			lung(8)	8						TACAATTGGTCATGTAGCTCA	0.418																																																	0																																										SO:0001583	missense	0																														ENST00000538173.1:c.145C>T	12.37:g.10658646C>T	ENSP00000445077:p.His49Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5I0X0|Q6KF84	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.H49Y	ENST00000538173.1	37	c.145		12	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333675	0.60853	.	.	ENSG00000180574	ENST00000322446;ENST00000538173	T;T	0.80566	-1.39;-1.39	2.43	2.43	0.29744	.	0.000000	0.85682	D	0.000000	D	0.83257	0.5215	.	.	.	.	.	.	.	.	.	.	.	.	D	0.88448	0.3047	6	0.87932	D	0	.	10.6167	0.45454	0.0:1.0:0.0:0.0	.	.	.	.	Y	49	ENSP00000323063:H49Y;ENSP00000445077:H49Y	ENSP00000323063:H49Y	H	+	1	0	AC068775.1	10549913	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	5.020000	0.64066	1.393000	0.46605	0.478000	0.44815	CAT	EIF2S3L	-	pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom		0.418	EIF2S3L-002	KNOWN	basic|appris_principal	protein_coding	ENSG00000180574	Uniprot_genename	protein_coding	OTTHUMT00000400341.3	C			10658646	+1	no_errors	ENST00000538173	ensembl	human	known	70_37	missense	SNP	1.000	T
RP13-608F4.1	0	genome.wustl.edu	37	15	82808975	82808975	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:82808975G>C	ENST00000506975.1	+	0	586																											GGGAGCTGGAGAGGCTGCGGG	0.667																																																	0																																												0																															15.37:g.82808975G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000506975.1	37	NULL		15																																																																																			RP13-608F4.1	-	-		0.667	RP13-608F4.1-002	KNOWN	basic	processed_transcript	ENSG00000186322	Clone_based_vega_gene	pseudogene	OTTHUMT00000371476.1	G			82808975	+1	no_errors	ENST00000306827	ensembl	human	known	70_37	rna	SNP	1.000	C
PRSS29P	123787	genome.wustl.edu	37	16	1312877	1312877	+	lincRNA	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1312877G>T	ENST00000568091.1	-	0	969							A6NIE9	PRS29_HUMAN	protease, serine, 29, pseudogene							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TGTGCGCCCAGGAGGCCCAGT	0.657																																																	0																																												0			AF529082		16p13.3	2013-04-23	2012-08-22		ENSG00000196364	ENSG00000196364		"""Serine peptidases / Serine peptidases"""	17542	pseudogene	pseudogene			"""protease, serine, 29 pseudogene"""				Standard	NG_002329		Approved	Isp2		A6NIE9	OTTHUMG00000172997		16.37:g.1312877G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000568091.1	37	NULL		16																																																																																			RP11-616M22.6	-	-		0.657	PRSS29P-001	KNOWN	basic	lincRNA	ENSG00000196364	Clone_based_vega_gene	lincRNA	OTTHUMT00000421618.1	G	NG_002329		1312877	-1	no_errors	ENST00000440800	ensembl	human	known	70_37	rna	SNP	0.000	T
RBM3	5935	genome.wustl.edu	37	X	48433150	48433150	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:48433150G>C	ENST00000376759.3	+	1	50				RBM3_ENST00000376755.1_5'Flank|RBM3_ENST00000430348.2_Intron|AC115618.1_ENST00000376775.2_Silent_p.L33L|RBM3_ENST00000466764.1_Intron|RBM3_ENST00000354480.2_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGCTGTATCTGAGTGTGAGGC	0.627											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.-14+189G>C	X.37:g.48433150G>C		Somatic	954	WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L33	ENST00000376759.3	37	c.99	CCDS14301.1	X																																																																																			AC115618.1	-	NULL		0.627	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000204620	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000060755.1	G	NM_006743		48433150	-1	no_errors	ENST00000376775	ensembl	human	known	70_37	silent	SNP	0.000	C
TMEM178B	100507421	genome.wustl.edu	37	7	141116156	141116156	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:141116156G>A	ENST00000565468.1	+	3	575				RP5-842K16.1_ENST00000461145.1_lincRNA	NM_001195278.1	NP_001182207.1	H3BS89	T178B_HUMAN	transmembrane protein 178B							integral component of membrane (GO:0016021)											CCAGAAGGCAGAAATAAATCT	0.438																																																	0																																										SO:0001627	intron_variant	0				CCDS59086.1	7q34	2012-06-29			ENSG00000261115	ENSG00000261115			44112	protein-coding gene	gene with protein product							Standard	NM_001195278		Approved	DKFZp547G036	uc003vwg.2	H3BS89	OTTHUMG00000172737	ENST00000565468.1:c.497-21252G>A	7.37:g.141116156G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565468.1	37	NULL	CCDS59086.1	7																																																																																			RP5-842K16.1	-	-		0.438	TMEM178B-001	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ENSG00000204990	Clone_based_vega_gene	protein_coding	OTTHUMT00000420337.4	G			141116156	-1	no_errors	ENST00000461145	ensembl	human	known	70_37	rna	SNP	0.000	A
DPP9	91039	genome.wustl.edu	37	19	4684487	4684487	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:4684487G>C	ENST00000598800.1	-	19	2597				DPP9_ENST00000262960.9_Intron|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Intron|DPP9_ENST00000601173.1_Intron			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCGCAGCCCAGAGCTGAGCAG	0.572																																																	0																																										SO:0001627	intron_variant	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2091+187C>G	19.37:g.4684487G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	RNA	SNP	-	NULL	ENST00000598800.1	37	NULL		19																																																																																			AC005594.3	-	-		0.572	DPP9-026	NOVEL	basic	protein_coding	ENSG00000205790	Clone_based_vega_gene	protein_coding	OTTHUMT00000459343.2	G			4684487	+1	no_errors	ENST00000381796	ensembl	human	known	70_37	rna	SNP	0.050	C
DPP9	91039	genome.wustl.edu	37	19	4684637	4684637	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:4684637G>C	ENST00000598800.1	-	19	2597				DPP9_ENST00000262960.9_Intron|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Intron|DPP9_ENST00000601173.1_Intron			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9							cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCCTTCCCGAGACCCAAAGGA	0.622																																																	0													29.0	37.0	34.0					19																	4684637		1942	4138	6080	SO:0001627	intron_variant	0			AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2091+37C>G	19.37:g.4684637G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	RNA	SNP	-	NULL	ENST00000598800.1	37	NULL		19																																																																																			AC005594.3	-	-		0.622	DPP9-026	NOVEL	basic	protein_coding	ENSG00000205790	Clone_based_vega_gene	protein_coding	OTTHUMT00000459343.2	G			4684637	+1	no_errors	ENST00000381796	ensembl	human	known	70_37	rna	SNP	0.000	C
LINC01378	103689918	genome.wustl.edu	37	4	118496561	118496561	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:118496561C>T	ENST00000422145.3	+	0	159				NT5C3AP1_ENST00000441170.1_RNA																							ACCCCAGTTTCATCAAAATCC	0.353																																																	0																																												0																															4.37:g.118496561C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000422145.3	37	NULL		4																																																																																			AC092661.2	-	-		0.353	AC092661.1-002	KNOWN	basic	lincRNA	ENSG00000213492	Clone_based_vega_gene	lincRNA	OTTHUMT00000291362.3	C			118496561	-1	no_errors	ENST00000441170	ensembl	human	known	70_37	rna	SNP	1.000	T
LINC01020	340094	genome.wustl.edu	37	5	5034588	5034588	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:5034588G>A	ENST00000508201.1	+	0	117				CTD-2247C11.1_ENST00000509057.1_lincRNA					long intergenic non-protein coding RNA 1020																		GAGCAGCCTTGAGCCACAACT	0.488																																																	0																																												0					5p15.32	2013-07-26			ENSG00000215231	ENSG00000215231		"""Long non-coding RNAs"""	27968	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_026994		Approved				OTTHUMG00000161653		5.37:g.5034588G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000508201.1	37	NULL		5																																																																																			CTD-2247C11.3	-	-		0.488	LINC01020-001	KNOWN	basic	lincRNA	ENSG00000215231	Clone_based_vega_gene	lincRNA	OTTHUMT00000365595.1	G			5034588	+1	no_errors	ENST00000508201	ensembl	human	known	70_37	rna	SNP	0.002	A
AC008060.7	0	genome.wustl.edu	37	7	155187767	155187767	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:155187767G>C	ENST00000401499.1	+	2	267	c.219G>C	c.(217-219)tgG>tgC	p.W73C																								AGAATATCTGGATGGATGGAG	0.562																																																	0																																										SO:0001583	missense	0																														ENST00000401499.1:c.219G>C	7.37:g.155187767G>C	ENSP00000384676:p.Trp73Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.W73C	ENST00000401499.1	37	c.219		7	.	.	.	.	.	.	.	.	.	.	G	2.302	-0.359988	0.05103	.	.	ENSG00000218672	ENST00000401499	.	.	.	1.13	0.172	0.15031	.	.	.	.	.	T	0.44850	0.1313	.	.	.	.	.	.	.	.	.	.	.	.	T	0.53599	-0.8416	4	0.87932	D	0	.	4.9568	0.14046	0.0:0.5158:0.4842:0.0	.	.	.	.	C	73	.	ENSP00000384676:W73C	W	+	3	0	AC008060.7	154880528	0.002000	0.14202	0.002000	0.10522	0.043000	0.13939	0.217000	0.17603	0.045000	0.15804	0.467000	0.42956	TGG	AC008060.7	-	NULL		0.562	AC008060.7-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000218672	Clone_based_vega_gene	protein_coding	OTTHUMT00000322332.1	G			155187767	+1	no_errors	ENST00000401499	ensembl	human	putative	70_37	missense	SNP	0.002	C
LINC01118	388948	genome.wustl.edu	37	2	47044026	47044026	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:47044026G>A	ENST00000409912.1	+	1	205	c.63G>A	c.(61-63)gtG>gtA	p.V21V	AC016722.1_ENST00000479311.1_3'UTR|AC016722.1_ENST00000409518.1_Silent_p.V21V|AC016722.2_ENST00000422294.1_Silent_p.V21V																							ACCCACAGGTGGAGCTGACCA	0.582																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000409912.1:c.63G>A	2.37:g.47044026G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.V21	ENST00000409912.1	37	c.63		2																																																																																			AC016722.1	-	NULL		0.582	AC016722.1-001	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	ENSG00000222005	Clone_based_vega_gene	protein_coding	OTTHUMT00000329374.1	G			47044026	+1	no_errors	ENST00000409912	ensembl	human	putative	70_37	silent	SNP	0.073	A
ACTR8	93973	genome.wustl.edu	37	3	53916229	53916229	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:53916229C>G	ENST00000335754.3	-	0	0				ACTR8_ENST00000482349.1_5'Flank|AC012467.1_ENST00000410956.1_RNA	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)						chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGCCCACAGTCAAGATGGCCG	0.721																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.-101G>C	3.37:g.53916229C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSW7|Q8N566|Q9H663	RNA	SNP	-	NULL	ENST00000335754.3	37	NULL	CCDS2875.1	3																																																																																			AC012467.1	-	-		0.721	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222888	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000350562.2	C	NM_022899		53916229	-1	no_errors	ENST00000410956	ensembl	human	novel	70_37	rna	SNP	0.002	G
Unknown	0	genome.wustl.edu	37	X	75108937	75108937	+	IGR	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:75108937C>A								MAGEE2 (103858 upstream) : RP11-212D3.4 (14002 downstream)																							TCATGTGTACCCTTCCAGTTG	0.363																																																	0																																										SO:0001628	intergenic_variant	0																															X.37:g.75108937C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		X																																																																																			RP11-212D3.3	-	-	0	0.363					ENSG00000230028	Clone_based_vega_gene			C			75108937	+1	no_errors	ENST00000431331	ensembl	human	known	70_37	rna	SNP	0.118	A
GNB1	2782	genome.wustl.edu	37	1	1823929	1823929	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:1823929C>T	ENST00000378609.4	-	0	0				RP1-140A9.1_ENST00000412228.1_RNA|GNB1_ENST00000472614.2_5'Flank	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		cgcatcatttctggagccctt	0.597																																																	0																																										SO:0001631	upstream_gene_variant	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940		1.37:g.1823929C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJZ7|P04697|P04901|Q1RMY8	RNA	SNP	-	NULL	ENST00000378609.4	37	NULL	CCDS34.1	1																																																																																			RP1-140A9.1	-	-		0.597	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231050	Clone_based_vega_gene	protein_coding	OTTHUMT00000002762.3	C	NM_002074		1823929	+1	no_errors	ENST00000412228	ensembl	human	known	70_37	rna	SNP	0.000	T
THBS3	7059	genome.wustl.edu	37	1	155166667	155166667	+	Intron	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155166667G>T	ENST00000368378.3	-	21	2693				THBS3_ENST00000457183.2_Intron|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Intron|THBS3_ENST00000541576.1_Intron|MIR92B_ENST00000607575.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3						bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			atggaggagtgacttcaccaa	0.512																																																	0																																										SO:0001627	intron_variant	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.2672+164C>A	1.37:g.155166667G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AVR8|B4DQ20|Q8WV34	RNA	SNP	-	NULL	ENST00000368378.3	37	NULL	CCDS1099.1	1																																																																																			RP11-263K19.4	-	-		0.512	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231064	Clone_based_vega_gene	protein_coding	OTTHUMT00000086856.1	G	NM_007112		155166667	+1	no_errors	ENST00000447623	ensembl	human	known	70_37	rna	SNP	0.002	T
RP11-255H23.4	0	genome.wustl.edu	37	19	24014497	24014497	+	lincRNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:24014497G>C	ENST00000599944.1	-	0	150				RP11-255H23.2_ENST00000471224.1_RNA																							ATGTGGACATGATAATTTACT	0.388																																																	0																																												0																															19.37:g.24014497G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599944.1	37	NULL		19																																																																																			RP11-255H23.2	-	-		0.388	RP11-255H23.4-001	KNOWN	basic	lincRNA	ENSG00000233836	Clone_based_vega_gene	lincRNA	OTTHUMT00000466442.1	G			24014497	+1	no_errors	ENST00000471224	ensembl	human	known	70_37	rna	SNP	0.002	C
RP11-403I13.8	0	genome.wustl.edu	37	1	149288052	149288052	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:149288052C>G	ENST00000433084.1	+	0	602				RP11-403I13.7_ENST00000424684.1_lincRNA|RNU1-143P_ENST00000516296.1_RNA																							gatccaagatccaattggtca	0.532																																																	0																																												0																															1.37:g.149288052C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000433084.1	37	NULL		1																																																																																			RP11-403I13.8	-	-		0.532	RP11-403I13.8-001	KNOWN	basic	lincRNA	ENSG00000235999	Clone_based_vega_gene	lincRNA	OTTHUMT00000099633.1	C			149288052	+1	no_errors	ENST00000433084	ensembl	human	known	70_37	rna	SNP	0.023	G
RNPEP	6051	genome.wustl.edu	37	1	201970279	201970279	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201970279G>C	ENST00000295640.4	+	7	1247				RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_Intron|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)						leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTGGAGAGAGATCTTGGCCT	0.488																																					GBM(19;39 479 7473 13131 19462)												0																																										SO:0001627	intron_variant	0			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1205-225G>C	1.37:g.201970279G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVM9|Q9H1D4|Q9NPT7	RNA	SNP	-	NULL	ENST00000295640.4	37	NULL	CCDS1418.1	1																																																																																			RP11-465N4.4	-	-		0.488	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000234678	Clone_based_vega_gene	protein_coding	OTTHUMT00000087345.1	G	NM_020216		201970279	-1	no_errors	ENST00000415582	ensembl	human	known	70_37	rna	SNP	0.976	C
ARMC4P1	101060171	genome.wustl.edu	37	10	27551908	27551908	+	RNA	SNP	G	G	C	rs546573022		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:27551908G>C	ENST00000576034.1	+	0	164									armadillo repeat containing 4 pseudogene 1																		GCTCAGGTCTGAGCACTGGCG	0.473																																																	0																																												0					10p12.1	2012-12-19			ENSG00000238021	ENSG00000238021			44937	pseudogene	pseudogene							Standard	XM_006709935		Approved				OTTHUMG00000017856		10.37:g.27551908G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000576034.1	37	NULL		10																																																																																			RP11-748L13.1	-	-		0.473	ARMC4P1-002	KNOWN	basic	processed_transcript	ENSG00000238021	Clone_based_vega_gene	pseudogene	OTTHUMT00000436997.1	G			27551908	+1	no_errors	ENST00000576034	ensembl	human	known	70_37	rna	SNP	0.024	C
RP11-435B5.5	0	genome.wustl.edu	37	1	143378289	143378289	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:143378289G>A	ENST00000428624.1	+	0	1009				RP11-435B5.3_ENST00000430699.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							GAAGGAAGAAGAAAGCAACAA	0.383																																																	0																																												0																															1.37:g.143378289G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.383	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	G			143378289	+1	no_errors	ENST00000428624	ensembl	human	known	70_37	rna	SNP	0.026	A
RP11-435B5.5	0	genome.wustl.edu	37	1	143398977	143398977	+	lincRNA	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:143398977A>G	ENST00000428624.1	+	0	4990				RP11-435B5.4_ENST00000423249.1_lincRNA																							AAACTTTATTACTGGGCTATT	0.244																																																	0																																												0																															1.37:g.143398977A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			BX004987.5	-	-		0.244	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000238261	Clone_based_vega_gene	lincRNA	OTTHUMT00000037971.1	A			143398977	+1	no_errors	ENST00000458155	ensembl	human	known	70_37	rna	SNP	0.001	G
FHL2	2274	genome.wustl.edu	37	2	105994559	105994559	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:105994559G>C	ENST00000409807.1	-	3	491				AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000344213.4_Intron|AC012360.6_ENST00000415627.1_RNA|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000322142.8_Intron|FHL2_ENST00000358129.4_Intron|FHL2_ENST00000393353.3_Intron|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000409177.1_Intron			Q14192	FHL2_HUMAN	four and a half LIM domains 2						androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						ATGGAGGAAAGAGCACATCAG	0.463																																																	0																																										SO:0001627	intron_variant	0				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.157-4369C>G	2.37:g.105994559G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	RNA	SNP	-	NULL	ENST00000409807.1	37	NULL	CCDS2070.1	2																																																																																			AC012360.6	-	-		0.463	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000238273	Clone_based_vega_gene	protein_coding	OTTHUMT00000329654.1	G			105994559	+1	no_errors	ENST00000457290	ensembl	human	known	70_37	rna	SNP	0.000	C
ACSL6	23305	genome.wustl.edu	37	5	131269277	131269277	+	IGR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:131269277G>C								FNIP1 (136567 upstream) : AC034228.4 (10823 downstream)																							TTCTGCATAAGAGTCTGTGAC	0.343																																																	0																																										SO:0001628	intergenic_variant	0																															5.37:g.131269277G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		5																																																																																			AC034228.7	-	-	0	0.343					ENSG00000239642	Clone_based_vega_gene			G			131269277	-1	no_errors	ENST00000425320	ensembl	human	known	70_37	rna	SNP	0.171	C
SMTN	6525	genome.wustl.edu	37	22	31500253	31500253	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:31500253G>A	ENST00000347557.2	+	20	2821				SELM_ENST00000465536.1_5'Flank|SMTN_ENST00000358743.1_Intron|SMTN_ENST00000404574.1_Intron|SMTN_ENST00000333137.7_Intron	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGGGCGCCACGAGAGGCGGGT	0.592																																																	0													60.0	52.0	54.0					22																	31500253		2203	4300	6503	SO:0001627	intron_variant	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.2604-49G>A	22.37:g.31500253G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	RNA	SNP	-	NULL	ENST00000347557.2	37	NULL	CCDS13886.1	22																																																																																			RP3-412A9.10	-	-		0.592	SMTN-001	KNOWN	basic|CCDS	protein_coding	ENSG00000248603	Clone_based_vega_gene	protein_coding	OTTHUMT00000321766.1	G	NM_134270		31500253	+1	no_errors	ENST00000504335	ensembl	human	putative	70_37	rna	SNP	0.000	A
TRIM59	286827	genome.wustl.edu	37	3	160156451	160156451	+	Missense_Mutation	SNP	G	G	A	rs375673052		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:160156451G>A	ENST00000309784.4	-	3	706	c.521C>T	c.(520-522)tCt>tTt	p.S174F	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S174F|TRIM59_ENST00000543469.1_Missense_Mutation_p.S174F	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	174					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CATTTTCTCAGAATGAGATTT	0.373																																																	0								G	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	111.0	111.0	111.0		521	3.5	1.0	3		111	0,8600		0,0,4300	no	missense	TRIM59	NM_173084.2	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	174/404	160156451	1,13005	2203	4300	6503	SO:0001583	missense	0			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.521C>T	3.37:g.160156451G>A	ENSP00000311219:p.Ser174Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5G9|D3DNL9	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S174F	ENST00000309784.4	37	c.521	CCDS3190.1	3	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255104	0.39896	2.27E-4	0.0	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460	T;T;T	0.23552	2.05;1.9;2.02	5.52	3.46	0.39613	.	0.416766	0.27478	N	0.019200	T	0.15046	0.0363	L	0.34521	1.04	0.33877	D	0.635667	B	0.31054	0.306	B	0.24541	0.054	T	0.11179	-1.0598	9	.	.	.	-20.4857	7.5933	0.28033	0.1015:0.3917:0.5068:0.0	.	174	Q8IWR1	TRI59_HUMAN	F	174	ENSP00000444313:S174F;ENSP00000311219:S174F;ENSP00000417081:S174F	.	S	-	2	0	TRIM59	161639145	0.986000	0.35501	0.963000	0.40424	0.970000	0.65996	1.862000	0.39448	2.600000	0.87896	0.561000	0.74099	TCT	TRIM59	-	NULL		0.373	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248710	Uniprot_genename	protein_coding	OTTHUMT00000352963.1	G	NM_173084		160156451	-1	no_errors	ENST00000483754	ensembl	human	known	70_37	missense	SNP	0.915	A
SCN1A	6323	genome.wustl.edu	37	2	166930156	166930156	+	5'Flank	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:166930156A>G	ENST00000303395.4	-	0	0				AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_5'Flank|SCN1A_ENST00000375405.3_5'Flank|SCN1A_ENST00000409050.1_5'Flank			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit						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)	CATTTTAATTACCATTTATTC	0.348																																																	0													71.0	68.0	69.0					2																	166930156		2203	4300	6503	SO:0001631	upstream_gene_variant	0			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		2.37:g.166930156A>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	RNA	SNP	-	NULL	ENST00000303395.4	37	NULL	CCDS54413.1	2																																																																																			AC010127.4	-	-		0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ENSG00000249194	Clone_based_vega_gene	protein_coding	OTTHUMT00000102661.1	A	NM_006920		166930156	-1	no_errors	ENST00000507401	ensembl	human	putative	70_37	rna	SNP	1.000	G
LRBA	987	genome.wustl.edu	37	4	151500299	151500299	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:151500299C>G	ENST00000357115.3	-	41	6607				MAB21L2_ENST00000317605.4_5'Flank|LRBA_ENST00000503716.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATATAGTATCTCCTGCAGAA	0.413																																																	0																																										SO:0001627	intron_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6363+8900G>C	4.37:g.151500299C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	RNA	SNP	-	NULL	ENST00000357115.3	37	NULL	CCDS3773.1	4																																																																																			RP11-1336O20.2	-	-		0.413	LRBA-002	KNOWN	basic|CCDS	protein_coding	ENSG00000249690	Clone_based_vega_gene	protein_coding	OTTHUMT00000364939.1	C			151500299	+1	no_errors	ENST00000507934	ensembl	human	known	70_37	rna	SNP	0.998	G
CTTNBP2NL	55917	genome.wustl.edu	37	1	112958681	112958681	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:112958681G>A	ENST00000271277.6	+	3	216					NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like						negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAGGCATTTGATACTATAAT	0.264																																																	0																																										SO:0001627	intron_variant	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.-9-98G>A	1.37:g.112958681G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMS5|Q96B40	RNA	SNP	-	NULL	ENST00000271277.6	37	NULL	CCDS845.1	1																																																																																			RP4-671G15.2	-	-		0.264	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249913	Clone_based_vega_gene	protein_coding	OTTHUMT00000030686.1	G	NM_018704		112958681	-1	no_errors	ENST00000502356	ensembl	human	known	70_37	rna	SNP	0.001	A
APBB2	323	genome.wustl.edu	37	4	40827834	40827834	+	Intron	SNP	C	C	T	rs570805923		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:40827834C>T	ENST00000295974.8	-	15	2443				RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000508593.1_Intron|APBB2_ENST00000502841.1_Intron|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000504305.1_Intron|APBB2_ENST00000543538.1_Intron|APBB2_ENST00000513140.1_Intron|APBB2_ENST00000506352.1_Intron	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2						axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TCACCCTCCTCGGAGGGCGAA	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		23182	0.001		0.0	False		,,,				2504	0.0				Ovarian(3;20 75 16686 49997)												0																																										SO:0001627	intron_variant	0			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1813+69G>A	4.37:g.40827834C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSL4|E9PG87|Q8IUI6	RNA	SNP	-	NULL	ENST00000295974.8	37	NULL	CCDS54761.1	4																																																																																			RP11-632F7.3	-	-		0.488	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000250906	Clone_based_vega_gene	protein_coding	OTTHUMT00000360523.3	C	NM_173075		40827834	+1	no_errors	ENST00000513127	ensembl	human	known	70_37	rna	SNP	0.000	T
SEC16B	89866	genome.wustl.edu	37	1	177929422	177929422	+	Intron	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:177929422G>T	ENST00000308284.6	-	8	1088				SEC16B_ENST00000464631.2_Intron|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GATCTGGGCAGGAAGATTTTC	0.428																																																	0													53.0	46.0	48.0					1																	177929422		692	1591	2283	SO:0001627	intron_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.998+54C>A	1.37:g.177929422G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	RNA	SNP	-	NULL	ENST00000308284.6	37	NULL	CCDS44281.1	1																																																																																			RP4-798P15.3	-	-		0.428	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254154	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	G	NM_033127		177929422	-1	no_errors	ENST00000466953	ensembl	human	known	70_37	rna	SNP	0.000	T
GPT	2875	genome.wustl.edu	37	8	145730362	145730362	+	Intron	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145730362C>A	ENST00000528431.1	+	5	518				GPT_ENST00000394955.2_Intron			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	ACTTCCCATCCTGTCCTGCCC	0.657																																																	0													55.0	61.0	59.0					8																	145730362		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.362-19C>A	8.37:g.145730362C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ18|D3DWM7|P78398|Q93076	RNA	SNP	-	NULL	ENST00000528431.1	37	NULL	CCDS6430.1	8																																																																																			CTD-2517M22.14	-	-		0.657	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255182	Clone_based_vega_gene	protein_coding	OTTHUMT00000382471.1	C			145730362	-1	no_errors	ENST00000527086	ensembl	human	known	70_37	rna	SNP	0.000	A
TMEM52B	120939	genome.wustl.edu	37	12	10332090	10332090	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:10332090C>G	ENST00000381923.2	+	0	321				TMEM52B_ENST00000536952.1_5'Flank|TMEM52B_ENST00000298530.3_5'UTR			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AATTCTAGGTCAAGAAGTAAA	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.-84C>G	12.37:g.10332090C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96NA7	RNA	SNP	-	NULL	ENST00000381923.2	37	NULL		12																																																																																			RP11-656E20.3	-	-		0.443	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	ENSG00000255895	Clone_based_vega_gene	protein_coding	OTTHUMT00000399645.1	C	NM_153022		10332090	-1	no_errors	ENST00000541344	ensembl	human	known	70_37	rna	SNP	0.018	G
MYRF	745	genome.wustl.edu	37	11	61546366	61546366	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:61546366C>G	ENST00000278836.5	+	15	2109				MYRF_ENST00000389602.4_Intron|MYRF_ENST00000265460.5_Intron|TMEM258_ENST00000535042.1_5'UTR|MYRF_ENST00000327797.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor						central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TAATAGGTCTCCACCCCAGCT	0.542																																																	0																																										SO:0001627	intron_variant	0				CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.2014-369C>G	11.37:g.61546366C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43582|Q9P1Q6	RNA	SNP	-	NULL	ENST00000278836.5	37	NULL	CCDS44622.1	11																																																																																			RP11-467L20.9	-	-		0.542	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000256428	Clone_based_vega_gene	protein_coding	OTTHUMT00000398519.2	C	NM_013279		61546366	-1	no_errors	ENST00000535042	ensembl	human	known	70_37	rna	SNP	0.000	G
RBM19	9904	genome.wustl.edu	37	12	114374727	114374727	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:114374727G>A	ENST00000545145.2	-	16	2147				RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Intron|RBM19_ENST00000392561.3_Intron	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19						multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCAGAGGCTTGATAAGAAACT	0.483																																																	0																																										SO:0001627	intron_variant	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2068+84C>T	12.37:g.114374727G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5X9|Q9BPY6|Q9UFN5	RNA	SNP	-	NULL	ENST00000545145.2	37	NULL	CCDS9172.1	12																																																																																			RP11-780K2.1	-	-		0.483	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000257359	Clone_based_vega_gene	protein_coding	OTTHUMT00000405251.1	G	NM_016196		114374727	+1	no_errors	ENST00000550206	ensembl	human	known	70_37	rna	SNP	0.000	A
PXMP2	5827	genome.wustl.edu	37	12	133281324	133281324	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:133281324C>T	ENST00000317479.3	+	0	704				RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.H85Y|PXMP2_ENST00000539093.1_Missense_Mutation_p.H85Y|PXMP2_ENST00000545677.1_Missense_Mutation_p.H85Y|PXMP2_ENST00000428960.2_Missense_Mutation_p.H166Y|PXMP2_ENST00000543589.1_Missense_Mutation_p.S119L	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CTGGGGGTCTCACCCGCCCAG	0.537																																																	0													68.0	54.0	59.0					12																	133281324		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0				CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.*51C>T	12.37:g.133281324C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.H85Y	ENST00000317479.3	37	c.253	CCDS9279.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.126|8.126	0.782026|0.782026	0.16189|0.16189	.|.	.|.	ENSG00000176894;ENSG00000176894;ENSG00000176894;ENSG00000256632|ENSG00000176894	ENST00000545677;ENST00000539093;ENST00000428960;ENST00000537262|ENST00000543589	D|.	0.92099|.	-2.97|.	4.62|4.62	-3.76|-3.76	0.04359|0.04359	.|.	.|.	.|.	.|.	.|.	T|T	0.26846|0.26846	0.0657|0.0657	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39313|0.39313	-0.9620|-0.9620	6|5	0.87932|0.72032	D|D	0|0.01	.|.	1.7621|1.7621	0.02994|0.02994	0.1196:0.3518:0.2607:0.2679|0.1196:0.3518:0.2607:0.2679	.|.	.|.	.|.	.|.	Y|L	85;85;166;85|119	ENSP00000398708:H166Y|.	ENSP00000398708:H166Y|ENSP00000446049:S119L	H|S	+|+	1|2	0|0	RP13-672B3.2;PXMP2|PXMP2	131791397|131791397	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.329000|-0.329000	0.07935|0.07935	-0.529000|-0.529000	0.06358|0.06358	-0.914000|-0.914000	0.02751|0.02751	CAC|TCA	PXMP2	-	NULL		0.537	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256632	Uniprot_genename	protein_coding	OTTHUMT00000397553.1	C	NM_018663		133281324	+1	no_errors	ENST00000540119	ensembl	human	known	70_37	missense	SNP	0.000	T
POTEG	404785	genome.wustl.edu	37	14	19563164	19563164	+	Intron	SNP	T	T	C	rs61971039		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:19563164T>C	ENST00000409832.3	+	5	969				CTD-2311B13.5_ENST00000548748.1_lincRNA|RNU6-1239P_ENST00000391310.1_RNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G											cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAAAGGACTTTAAATTAGTAG	0.353																																																	0																																										SO:0001627	intron_variant	0				CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.918-240T>C	14.37:g.19563164T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L153|A6NMI9|Q6S5H6|Q6S8J2	RNA	SNP	-	NULL	ENST00000409832.3	37	NULL	CCDS32018.1	14																																																																																			CTD-2311B13.5	-	-		0.353	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258252	Clone_based_vega_gene	protein_coding	OTTHUMT00000408579.1	T	NM_001005356		19563164	-1	no_errors	ENST00000548748	ensembl	human	known	70_37	rna	SNP	0.070	C
ACOT6	641372	genome.wustl.edu	37	14	74083729	74083729	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:74083729G>C	ENST00000381139.1	+	0	182				RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6							cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGATCTGTTTGGGAGCAGCAG	0.502																																																	0																																										SO:0001623	5_prime_UTR_variant	0			DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.-150G>C	14.37:g.74083729G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381139.1	37	NULL	CCDS32118.1	14																																																																																			RP3-414A15.10	-	-		0.502	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258603	Clone_based_vega_gene	protein_coding	OTTHUMT00000414437.1	G	NM_001037162		74083729	-1	no_errors	ENST00000555011	ensembl	human	known	70_37	rna	SNP	0.998	C
RP11-26F2.1	0	genome.wustl.edu	37	15	23131872	23131872	+	RNA	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:23131872C>A	ENST00000560053.1	-	0	55																											TCCATAGACTCGATCTAGTTC	0.353																																																	0																																												0																															15.37:g.23131872C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000560053.1	37	NULL		15																																																																																			RP11-26F2.1	-	-		0.353	RP11-26F2.1-002	KNOWN	basic	processed_transcript	ENSG00000259480	Clone_based_vega_gene	pseudogene	OTTHUMT00000415904.1	C			23131872	-1	no_errors	ENST00000560053	ensembl	human	known	70_37	rna	SNP	0.999	A
FIGNL2	401720	genome.wustl.edu	37	12	52216041	52216041	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:52216041C>T	ENST00000562343.2	+	0	4188				RP11-923I11.4_ENST00000567167.1_lincRNA																							GCAGTGAGGGCTGAGATGTCG	0.647																																																	0													69.0	73.0	72.0					12																	52216041		2167	4256	6423			0																															12.37:g.52216041C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000562343.2	37	NULL		12																																																																																			RP11-923I11.6	-	-		0.647	RP11-923I11.6-001	KNOWN	basic	lincRNA	ENSG00000261586	Clone_based_vega_gene	lincRNA	OTTHUMT00000430848.2	C			52216041	+1	no_errors	ENST00000562343	ensembl	human	putative	70_37	rna	SNP	0.998	T
CARD14	79092	genome.wustl.edu	37	17	78178264	78178264	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:78178264C>T	ENST00000573882.1	+	19	2934				CARD14_ENST00000344227.2_Intron|RP11-334C17.5_ENST00000572730.1_RNA|RP11-334C17.5_ENST00000570309.1_RNA|RP11-334C17.5_ENST00000573346.1_RNA|RP11-334C17.5_ENST00000576824.1_RNA|RP11-334C17.5_ENST00000573935.1_RNA			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ATCTGGTCTTCAAGAATCATG	0.617																																																	0																																										SO:0001627	intron_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.2398+124C>T	17.37:g.78178264C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B8QQJ3|Q9BVB5	RNA	SNP	-	NULL	ENST00000573882.1	37	NULL	CCDS11768.1	17																																																																																			RP11-334C17.5	-	-		0.617	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262580	Clone_based_vega_gene	protein_coding	OTTHUMT00000437507.1	C			78178264	-1	no_errors	ENST00000570309	ensembl	human	known	70_37	rna	SNP	0.118	T
GLIS2	84662	genome.wustl.edu	37	16	4387793	4387793	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:4387793G>C	ENST00000262366.3	+	0	2664				GLIS2_ENST00000433375.1_3'UTR|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2						cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CTCAGCTTCTGAGAGGCTTTC	0.662																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.*268G>C	16.37:g.4387793G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX84	RNA	SNP	-	NULL	ENST00000262366.3	37	NULL	CCDS10511.1	16																																																																																			RP11-295D4.1	-	-		0.662	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262712	Clone_based_vega_gene	protein_coding	OTTHUMT00000251630.1	G	NM_032575		4387793	-1	no_errors	ENST00000574705	ensembl	human	known	70_37	rna	SNP	0.000	C
WDR81	124997	genome.wustl.edu	37	17	1641656	1641656	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1641656G>C	ENST00000409644.1	+	0	6503				WDR81_ENST00000437219.2_3'UTR|WDR81_ENST00000446363.1_3'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_3'UTR|WDR81_ENST00000309182.5_3'UTR	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81						negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCTTCAGCTGAGGGGGCAGC	0.622																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.*677G>C	17.37:g.1641656G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	RNA	SNP	-	NULL	ENST00000409644.1	37	NULL	CCDS54062.1	17																																																																																			RP11-961A15.1	-	-		0.622	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000262791	Clone_based_vega_gene	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1641656	-1	no_errors	ENST00000576540	ensembl	human	known	70_37	rna	SNP	1.000	C
WDR81	124997	genome.wustl.edu	37	17	1641719	1641719	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1641719G>C	ENST00000409644.1	+	0	6566				WDR81_ENST00000437219.2_3'UTR|WDR81_ENST00000446363.1_3'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_3'UTR|WDR81_ENST00000309182.5_3'UTR	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81						negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGGGGTGAGAAGAATCATC	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.*740G>C	17.37:g.1641719G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	RNA	SNP	-	NULL	ENST00000409644.1	37	NULL	CCDS54062.1	17																																																																																			RP11-961A15.1	-	-		0.602	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000262791	Clone_based_vega_gene	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1641719	-1	no_errors	ENST00000576540	ensembl	human	known	70_37	rna	SNP	0.003	C
WDR81	124997	genome.wustl.edu	37	17	1641739	1641739	+	3'UTR	SNP	C	C	G	rs116042891	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1641739C>G	ENST00000409644.1	+	0	6586				WDR81_ENST00000437219.2_3'UTR|WDR81_ENST00000446363.1_3'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_3'UTR|WDR81_ENST00000309182.5_3'UTR	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81						negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTCTGCACCTCGGGTCTCTGC	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.*760C>G	17.37:g.1641739C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	RNA	SNP	-	NULL	ENST00000409644.1	37	NULL	CCDS54062.1	17																																																																																			RP11-961A15.1	-	-		0.582	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000262791	Clone_based_vega_gene	protein_coding	OTTHUMT00000333118.2	C	NM_152348		1641739	-1	no_errors	ENST00000576540	ensembl	human	known	70_37	rna	SNP	0.991	G
WDR81	124997	genome.wustl.edu	37	17	1641793	1641793	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1641793G>C	ENST00000409644.1	+	0	6640				WDR81_ENST00000437219.2_3'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_3'UTR|WDR81_ENST00000309182.5_3'UTR	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81						negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ATTCTAGACAGAGATGAGGTC	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.*814G>C	17.37:g.1641793G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	RNA	SNP	-	NULL	ENST00000409644.1	37	NULL	CCDS54062.1	17																																																																																			RP11-961A15.1	-	-		0.512	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000262791	Clone_based_vega_gene	protein_coding	OTTHUMT00000333118.2	G	NM_152348		1641793	-1	no_errors	ENST00000576540	ensembl	human	known	70_37	rna	SNP	0.109	C
LRRC28	123355	genome.wustl.edu	37	15	99797792	99797793	+	Intron	INS	-	-	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:99797792_99797793insT	ENST00000301981.3	+	2	408				LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_Intron|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000422500.2_Intron|AC022819.1_ENST00000581052.1_RNA|LRRC28_ENST00000559399.1_Intron|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28											endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GTGGAGGTGGCTCTTGCGATCG	0.579																																																	0																																										SO:0001627	intron_variant	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.168+1462->T	15.37:g.99797793_99797793dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA22|Q6UY49|Q6ZSS6	RNA	INS	-	NULL	ENST00000301981.3	37	NULL	CCDS10380.1	15																																																																																			AC022819.1	-	-		0.579	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264771	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000313546.1	-	NM_144598		99797793	+1	no_errors	ENST00000581052	ensembl	human	novel	70_37	rna	INS	0.008:0.008	T
LRRC28	123355	genome.wustl.edu	37	15	99797794	99797794	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:99797794C>T	ENST00000301981.3	+	2	408				LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000442993.2_Intron|LRRC28_ENST00000447360.2_Intron|LRRC28_ENST00000422500.2_Intron|AC022819.1_ENST00000581052.1_RNA|LRRC28_ENST00000559399.1_Intron|LRRC28_ENST00000558879.1_Intron	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28											endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GGAGGTGGCTCTTGCGATCGA	0.582																																																	0																																										SO:0001627	intron_variant	0			AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.168+1464C>T	15.37:g.99797794C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA22|Q6UY49|Q6ZSS6	RNA	SNP	-	NULL	ENST00000301981.3	37	NULL	CCDS10380.1	15																																																																																			AC022819.1	-	-		0.582	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000264771	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000313546.1	C	NM_144598		99797794	+1	no_errors	ENST00000581052	ensembl	human	novel	70_37	rna	SNP	0.007	T
CTB-52I2.4	0	genome.wustl.edu	37	19	18141638	18141638	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:18141638G>A	ENST00000594957.3	+	0	399																											CTGTGGACATGATGTATGGTG	0.473																																																	0																																												0																															19.37:g.18141638G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000594957.3	37	NULL		19																																																																																			CTB-52I2.4	-	-		0.473	CTB-52I2.4-002	KNOWN	basic	processed_transcript	ENSG00000268032	Clone_based_vega_gene	pseudogene	OTTHUMT00000466852.4	G			18141638	+1	no_errors	ENST00000594957	ensembl	human	known	70_37	rna	SNP	1.000	A
LOC100420587	100420587	genome.wustl.edu	37	19	29213617	29213617	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:29213617C>G	ENST00000592347.1	-	0	501																											AGTACTCGCTCAAGATTCACA	0.478																																																	0																																												0																															19.37:g.29213617C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000592347.1	37	NULL		19																																																																																			AC005307.3	-	-		0.478	AC005307.3-001	KNOWN	basic	lincRNA	ENSG00000267243	Clone_based_vega_gene	lincRNA	OTTHUMT00000453069.1	C			29213617	-1	no_errors	ENST00000590072	ensembl	human	known	70_37	rna	SNP	0.028	G
EP300	2033	genome.wustl.edu	37	22	41489064	41489064	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:41489064C>G	ENST00000263253.7	+	1	1275	c.56C>G	c.(55-57)tCa>tGa	p.S19*	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	19	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTAAACTCTCATCTCCGGCC	0.557			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													60.0	71.0	67.0					22																	41489064		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.56C>G	22.37:g.41489064C>G	ENSP00000263253:p.Ser19*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S19*	ENST00000263253.7	37	c.56	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	47	13.385148	0.99739	.	.	ENSG00000100393	ENST00000263253	.	.	.	4.7	4.7	0.59300	.	0.000000	0.33854	N	0.004499	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.9919	0.80211	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000263253:S19X	S	+	2	0	EP300	39819010	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.738000	0.74822	2.449000	0.82847	0.591000	0.81541	TCA	EP300	-	NULL		0.557	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41489064	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	G
EP300	2033	genome.wustl.edu	37	22	41521980	41521980	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:41521980C>G	ENST00000263253.7	+	3	2061	c.842C>G	c.(841-843)tCa>tGa	p.S281*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	281					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ACTGTACTATCAAATAACTTA	0.423			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													118.0	109.0	112.0					22																	41521980		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.842C>G	22.37:g.41521980C>G	ENSP00000263253:p.Ser281*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S281*	ENST00000263253.7	37	c.842	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	48	14.002311	0.99774	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.82	5.82	0.92795	.	0.315874	0.22366	N	0.061018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.7175	14.0013	0.64436	0.2517:0.7483:0.0:0.0	.	.	.	.	X	281	.	ENSP00000263253:S281X	S	+	2	0	EP300	39851926	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.446000	0.60014	2.745000	0.94114	0.655000	0.94253	TCA	EP300	-	NULL		0.423	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41521980	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	G
EPC2	26122	genome.wustl.edu	37	2	149447933	149447933	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:149447933C>G	ENST00000258484.6	+	2	338	c.304C>G	c.(304-306)Cat>Gat	p.H102D	EPC2_ENST00000409654.1_Missense_Mutation_p.H102D	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	102					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ACAGTTCATTCATATTCAGCG	0.328																																																	0													178.0	170.0	173.0					2																	149447933		1840	4097	5937	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.304C>G	2.37:g.149447933C>G	ENSP00000258484:p.His102Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N	p.H102D	ENST00000258484.6	37	c.304	CCDS46422.1	2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710549	0.89112	.	.	ENSG00000135999	ENST00000457184;ENST00000258484;ENST00000409654;ENST00000397424;ENST00000449013	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.67	5.67	0.87782	Enhancer of polycomb-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.83953	2.67	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	T	0.73430	-0.3985	10	0.87932	D	0	-3.9714	19.7784	0.96405	0.0:1.0:0.0:0.0	.	102	Q52LR7	EPC2_HUMAN	D	78;102;102;31;51	ENSP00000415543:H78D;ENSP00000258484:H102D;ENSP00000387097:H102D;ENSP00000380569:H31D;ENSP00000395431:H51D	ENSP00000258484:H102D	H	+	1	0	EPC2	149164403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.658000	0.90341	0.591000	0.81541	CAT	EPC2	-	pfam_Enhancer_polycomb-like_N		0.328	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPC2	HGNC	protein_coding	OTTHUMT00000332278.1	C	NM_015630		149447933	+1	no_errors	ENST00000258484	ensembl	human	known	70_37	missense	SNP	1.000	G
EPDR1	54749	genome.wustl.edu	37	7	37960781	37960781	+	Silent	SNP	C	C	T	rs79929812	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:37960781C>T	ENST00000199448.4	+	1	619	c.240C>T	c.(238-240)gaC>gaT	p.D80D	EPDR1_ENST00000423717.1_Silent_p.D80D|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Silent_p.D200D	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	80					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GGGTGCTGGACGAGAGGAAGG	0.697																																																	0													16.0	17.0	16.0					7																	37960781		2106	4139	6245	SO:0001819	synonymous_variant	54749			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.240C>T	7.37:g.37960781C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4C0|C9JYS3|Q06BL0|Q99M77	Silent	SNP	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.D200	ENST00000199448.4	37	c.600	CCDS5454.2	7																																																																																			EPDR1	-	smart_Ependymin		0.697	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	C	NM_017549		37960781	+1	no_errors	ENST00000559325	ensembl	human	known	70_37	silent	SNP	1.000	T
EPN3	55040	genome.wustl.edu	37	17	48618394	48618394	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48618394G>C	ENST00000268933.3	+	7	1799	c.1220G>C	c.(1219-1221)gGa>gCa	p.G407A	EPN3_ENST00000541226.1_3'UTR|RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Missense_Mutation_p.G435A	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	407						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GACCCTTGGGGAGCCTCCCTG	0.662																																																	0													25.0	30.0	28.0					17																	48618394		2169	4275	6444	SO:0001583	missense	55040			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1220G>C	17.37:g.48618394G>C	ENSP00000268933:p.Gly407Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.G435A	ENST00000268933.3	37	c.1304	CCDS11570.1	17	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844680	0.32606	.	.	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145	T;T	0.75154	-0.91;-0.91	5.17	5.17	0.71159	.	0.514704	0.21451	N	0.074337	T	0.65760	0.2722	L	0.49350	1.555	0.80722	D	1	B;B;B	0.31599	0.33;0.28;0.044	B;B;B	0.28465	0.057;0.09;0.062	T	0.61451	-0.7060	10	0.17832	T	0.49	-19.361	12.4731	0.55797	0.0:0.2214:0.7786:0.0	.	435;435;407	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	A	407;435;435	ENSP00000268933:G407A;ENSP00000439512:G435A	ENSP00000268933:G407A	G	+	2	0	EPN3	45973393	0.971000	0.33674	0.953000	0.39169	0.584000	0.36387	2.185000	0.42584	2.409000	0.81822	0.561000	0.74099	GGA	EPN3	-	NULL		0.662	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1	G	NM_017957		48618394	+1	no_errors	ENST00000537145	ensembl	human	known	70_37	missense	SNP	0.934	C
EPPK1	83481	genome.wustl.edu	37	8	144941887	144941887	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144941887G>A	ENST00000525985.1	-	2	5606	c.5535C>T	c.(5533-5535)atC>atT	p.I1845I				P58107	EPIPL_HUMAN	epiplakin 1	1845						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGCCACTTTGATGCCTTGGT	0.542																																																	0													213.0	218.0	216.0					8																	144941887		2098	4231	6329	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5535C>T	8.37:g.144941887G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.I1845	ENST00000525985.1	37	c.5535		8																																																																																			EPPK1	-	NULL		0.542	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144941887	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.080	A
EPPK1	83481	genome.wustl.edu	37	8	144942235	144942235	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144942235G>A	ENST00000525985.1	-	2	5258	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F				P58107	EPIPL_HUMAN	epiplakin 1	1729						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622																																																	0													97.0	103.0	101.0					8																	144942235		2091	4192	6283	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5187C>T	8.37:g.144942235G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.F1729	ENST00000525985.1	37	c.5187		8																																																																																			EPPK1	-	smart_Plectin_repeat		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144942235	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.989	A
EPPK1	83481	genome.wustl.edu	37	8	144942955	144942955	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144942955G>A	ENST00000525985.1	-	2	4538	c.4467C>T	c.(4465-4467)ctC>ctT	p.L1489L				P58107	EPIPL_HUMAN	epiplakin 1	1489						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGACCGACAGAGTGCCACCA	0.662																																																	0													21.0	25.0	24.0					8																	144942955		2176	4272	6448	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4467C>T	8.37:g.144942955G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.L1489	ENST00000525985.1	37	c.4467		8																																																																																			EPPK1	-	NULL		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144942955	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	silent	SNP	0.000	A
EPPK1	83481	genome.wustl.edu	37	8	144943526	144943526	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144943526G>A	ENST00000525985.1	-	2	3967	c.3896C>T	c.(3895-3897)tCa>tTa	p.S1299L				P58107	EPIPL_HUMAN	epiplakin 1	1299						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCCTCCACTGACAGTCTCTG	0.662																																																	0													50.0	57.0	54.0					8																	144943526		2008	4144	6152	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.3896C>T	8.37:g.144943526G>A	ENSP00000436337:p.Ser1299Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.S1299L	ENST00000525985.1	37	c.3896		8	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127331	0.37533	.	.	ENSG00000227184	ENST00000525985	T	0.80480	-1.38	4.51	4.51	0.55191	.	.	.	.	.	D	0.89139	0.6630	M	0.84773	2.715	0.09310	N	1	D	0.58268	0.982	P	0.59825	0.864	T	0.82250	-0.0550	9	0.72032	D	0.01	.	14.7468	0.69494	0.0:0.0:1.0:0.0	.	1299	E9PPU0	.	L	1299	ENSP00000436337:S1299L	ENSP00000436337:S1299L	S	-	2	0	EPPK1	145015514	0.003000	0.15002	0.018000	0.16275	0.040000	0.13550	1.258000	0.32944	2.331000	0.79229	0.462000	0.41574	TCA	EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	G	NM_031308		144943526	-1	no_errors	ENST00000525985	ensembl	human	known	70_37	missense	SNP	0.147	A
ERBB2	2064	genome.wustl.edu	37	17	37871593	37871593	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:37871593G>C	ENST00000269571.5	+	10	1362	c.1203G>C	c.(1201-1203)gaG>gaC	p.E401D	ERBB2_ENST00000540147.1_Missense_Mutation_p.E371D|ERBB2_ENST00000541774.1_Missense_Mutation_p.E386D|ERBB2_ENST00000578199.1_Missense_Mutation_p.E371D|ERBB2_ENST00000540042.1_Missense_Mutation_p.E371D|ERBB2_ENST00000584450.1_Missense_Mutation_p.E401D|ERBB2_ENST00000445658.2_Missense_Mutation_p.E125D|ERBB2_ENST00000584601.1_Missense_Mutation_p.E371D|ERBB2_ENST00000406381.2_Missense_Mutation_p.E371D			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	401					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AAGTGTTTGAGACTCTGGAAG	0.607		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													85.0	77.0	79.0					17																	37871593		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1203G>C	17.37:g.37871593G>C	ENSP00000269571:p.Glu401Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E401D	ENST00000269571.5	37	c.1203	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103617	0.37145	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.95	1.68	0.24146	EGF receptor, L domain (1);	.	.	.	.	T	0.36026	0.0952	L	0.52126	1.63	0.33384	D	0.575268	B;B;B;B	0.33549	0.417;0.1;0.1;0.014	B;B;B;B	0.36418	0.224;0.043;0.026;0.04	T	0.45862	-0.9232	9	0.66056	D	0.02	.	6.8647	0.24086	0.2179:0.1271:0.655:0.0	.	125;371;386;401	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	D	371;386;125;401;371;371	ENSP00000385185:E371D;ENSP00000446466:E386D;ENSP00000404047:E125D;ENSP00000269571:E401D;ENSP00000443562:E371D;ENSP00000446382:E371D	ENSP00000269571:E401D	E	+	3	2	ERBB2	35125119	1.000000	0.71417	0.975000	0.42487	0.843000	0.47879	2.020000	0.41010	0.105000	0.17753	0.491000	0.48974	GAG	ERBB2	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.607	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37871593	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.984	C
ERBB2IP	55914	genome.wustl.edu	37	5	65370955	65370955	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:65370955G>C	ENST00000284037.5	+	23	4249	c.3860G>C	c.(3859-3861)aGa>aCa	p.R1287T	ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R1235T|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R1246T|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R1246T|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R1294T|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R1246T|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R485T|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R1242T	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1287					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATCCCTCTAGAGAACAACTA	0.488																																																	0													116.0	118.0	118.0					5																	65370955		2203	4300	6503	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.3860G>C	5.37:g.65370955G>C	ENSP00000284037:p.Arg1287Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R1287T	ENST00000284037.5	37	c.3860	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614986	0.66672	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000512354	T;T;T;T;T;T;T;T	0.42513	1.32;1.33;1.34;1.24;0.97;1.03;1.33;1.32	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	L	0.49126	1.545	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.981;1.0;0.999;1.0;0.993;0.999;1.0	D;D;D;D;D;D;D	0.87578	0.966;0.998;0.994;0.996;0.977;0.991;0.996	T	0.61496	-0.7051	10	0.72032	D	0.01	.	20.3065	0.98633	0.0:0.0:1.0:0.0	.	485;1246;1294;1294;1242;1287;1246	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.	T	1287;1246;485;1235;1246;1246;1242;1294;124	ENSP00000284037:R1287T;ENSP00000370330:R1246T;ENSP00000397833:R485T;ENSP00000370326:R1235T;ENSP00000370323:R1246T;ENSP00000370325:R1246T;ENSP00000422766:R1242T;ENSP00000426632:R1294T	ENSP00000284037:R1287T	R	+	2	0	ERBB2IP	65406711	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.035000	0.93752	2.809000	0.96659	0.650000	0.86243	AGA	ERBB2IP	-	NULL		0.488	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65370955	+1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	C
ERI2	112479	genome.wustl.edu	37	16	20811296	20811296	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:20811296G>A	ENST00000357967.4	-	7	668	c.626C>T	c.(625-627)tCa>tTa	p.S209L	ERI2_ENST00000563117.1_Missense_Mutation_p.S116L|ERI2_ENST00000300005.3_Missense_Mutation_p.S209L|ERI2_ENST00000564349.1_Missense_Mutation_p.S116L|ERI2_ENST00000569729.1_Missense_Mutation_p.S209L|ERI2_ENST00000389345.5_5'UTR	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	209	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						TTCTCGTCCTGAGAATTCTAT	0.284																																																	0													50.0	55.0	53.0					16																	20811296		2201	4295	6496	SO:0001583	missense	112479			BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.626C>T	16.37:g.20811296G>A	ENSP00000350651:p.Ser209Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Znf_GRF,superfamily_RNaseH-like_dom,smart_Exonuclease	p.S209L	ENST00000357967.4	37	c.626	CCDS45436.1	16	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852754	0.32699	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T;T	0.22336	1.96;1.96	5.79	4.81	0.61882	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.439260	0.24678	N	0.036483	T	0.11836	0.0288	N	0.19112	0.55	0.80722	D	1	B;B;B	0.13145	0.007;0.001;0.002	B;B;B	0.12156	0.007;0.001;0.003	T	0.13602	-1.0503	10	0.34782	T	0.22	-0.8072	4.6282	0.12488	0.2134:0.0:0.6118:0.1748	.	209;209;209	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	L	209	ENSP00000300005:S209L;ENSP00000350651:S209L	ENSP00000300005:S209L	S	-	2	0	ERI2	20718797	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.012000	0.40932	1.294000	0.44707	0.650000	0.86243	TCA	ERI2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.284	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERI2	HGNC	protein_coding		G	NM_080663		20811296	-1	no_errors	ENST00000357967	ensembl	human	known	70_37	missense	SNP	1.000	A
ERP29	10961	genome.wustl.edu	37	12	112460219	112460219	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:112460219G>C	ENST00000261735.3	+	3	699	c.549G>C	c.(547-549)caG>caC	p.Q183H	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.Q82H	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	183					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TCTTGAAGCAGGGGCAAGATA	0.572																																																	0													46.0	45.0	45.0					12																	112460219		2203	4300	6503	SO:0001583	missense	10961			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.549G>C	12.37:g.112460219G>C	ENSP00000261735:p.Gln183His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.Q183H	ENST00000261735.3	37	c.549	CCDS9158.1	12	.	.	.	.	.	.	.	.	.	.	G	8.375	0.836144	0.16891	.	.	ENSG00000089248	ENST00000261735;ENST00000546477	.	.	.	5.57	0.968	0.19680	Endoplasmic reticulum, protein ERp29, C-terminal (3);	0.849164	0.10437	N	0.674723	T	0.37999	0.1024	L	0.53249	1.67	0.21822	N	0.999523	B	0.31893	0.345	B	0.28305	0.088	T	0.30650	-0.9971	9	0.66056	D	0.02	-3.22	11.7807	0.52013	0.2577:0.0:0.7423:0.0	.	183	P30040	ERP29_HUMAN	H	183;82	.	ENSP00000261735:Q183H	Q	+	3	2	ERP29	110944602	0.949000	0.32298	0.600000	0.28864	0.138000	0.21146	1.162000	0.31786	0.261000	0.21753	0.561000	0.74099	CAG	ERP29	-	pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29		0.572	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1	G			112460219	+1	no_errors	ENST00000261735	ensembl	human	known	70_37	missense	SNP	0.264	C
ERVV-1	147664	genome.wustl.edu	37	19	53518516	53518516	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:53518516C>T	ENST00000602168.1	+	1	1343	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L	CTD-2620I22.3_ENST00000596769.1_lincRNA	NM_152473.2	NP_689686.2	B6SEH8	ERVV1_HUMAN	endogenous retrovirus group V, member 1	391						integral component of membrane (GO:0016021)											tagattacctcttagcagagc	0.413																																																	0																																										SO:0001819	synonymous_variant	147664			AK056776, BC104018, BC104019	CCDS59419.1	19q13.41	2014-05-02			ENSG00000269526	ENSG00000269526			26501	other	endogenous retrovirus						18826608, 21542922	Standard	NM_152473		Approved	FLJ32214, HERV-V1, ENVV1	uc002qap.3	B6SEH8	OTTHUMG00000182942	ENST00000602168.1:c.1173C>T	19.37:g.53518516C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_TLV/ENV_coat_polyprotein	p.L391	ENST00000602168.1	37	c.1173	CCDS59419.1	19																																																																																			ERVV-1	-	pfam_TLV/ENV_coat_polyprotein		0.413	ERVV-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERVV-1	HGNC	protein_coding	OTTHUMT00000464402.1	C	NM_152473		53518516	+1	no_errors	ENST00000602168	ensembl	human	known	70_37	silent	SNP	0.333	T
ESPL1	9700	genome.wustl.edu	37	12	53680114	53680114	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53680114C>T	ENST00000257934.4	+	18	3685	c.3594C>T	c.(3592-3594)ctC>ctT	p.L1198L	ESPL1_ENST00000552462.1_Silent_p.L1198L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1198					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGAGCGCCTCACCCAAGCTC	0.592																																					Colon(53;1069 1201 2587 5382)												0													73.0	80.0	77.0					12																	53680114		2203	4300	6503	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.3594C>T	12.37:g.53680114C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_C50	p.L1198	ENST00000257934.4	37	c.3594	CCDS8852.1	12																																																																																			ESPL1	-	NULL		0.592	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	C	NM_012291		53680114	+1	no_errors	ENST00000257934	ensembl	human	known	70_37	silent	SNP	0.019	T
ETHE1	23474	genome.wustl.edu	37	19	44012026	44012026	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:44012026C>G	ENST00000292147.2	-	6	779				ETHE1_ENST00000600651.1_Nonstop_Mutation_p.*261S|PHLDB3_ENST00000292140.5_5'Flank|PHLDB3_ENST00000599242.1_5'Flank	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1						cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				cctcctctctcagacccagga	0.652																																																	0																																										SO:0001627	intron_variant	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.712+69G>C	19.37:g.44012026C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96HR0|Q9H001	Nonstop_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.*261S	ENST00000292147.2	37	c.782	CCDS12622.1	19																																																																																			ETHE1	-	NULL		0.652	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETHE1	HGNC	protein_coding	OTTHUMT00000463184.1	C	NM_014297		44012026	-1	no_errors	ENST00000600651	ensembl	human	putative	70_37	nonstop	SNP	0.091	G
ETNK2	55224	genome.wustl.edu	37	1	204110443	204110443	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:204110443C>G	ENST00000367202.4	-	4	934	c.784G>C	c.(784-786)Ggt>Cgt	p.G262R	ETNK2_ENST00000367197.1_5'Flank|ETNK2_ENST00000367201.3_Splice_Site_p.G262R|ETNK2_ENST00000477125.1_5'UTR|RP11-74C13.3_ENST00000433869.1_RNA|ETNK2_ENST00000367199.2_Splice_Site_p.G193R|ETNK2_ENST00000367198.2_Splice_Site_p.G84R	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	262					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|placenta development (GO:0001890)|post-embryonic development (GO:0009791)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ethanolamine kinase activity (GO:0004305)			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGCCATACCTTTGATGCTG	0.542																																																	0													65.0	66.0	65.0					1																	204110443		2203	4300	6503	SO:0001630	splice_region_variant	55224			AK001623	CCDS1442.2, CCDS73006.1	1q32.1	2008-02-05			ENSG00000143845	ENSG00000143845			25575	protein-coding gene	gene with protein product		609859				12477932	Standard	XM_005245302		Approved	FLJ10761, EKI2	uc001hao.4	Q9NVF9	OTTHUMG00000036061	ENST00000367202.4:c.784+1G>C	1.37:g.204110443C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7K1|Q5SXX5|Q68CK3|Q96G05	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.G262R	ENST00000367202.4	37	c.784	CCDS1442.2	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395220	0.83011	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000367199;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983;ENST00000444817	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.47	5.47	0.80525	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.053488	0.85682	D	0.000000	T	0.72653	0.3487	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	0.981;0.985;1.0	P;P;D	0.75484	0.846;0.905;0.986	T	0.71148	-0.4677	9	.	.	.	.	17.1027	0.86654	0.0:1.0:0.0:0.0	.	221;262;262	Q9NVF9-3;Q9NVF9;Q9NVF9-2	.;EKI2_HUMAN;.	R	262;262;193;128;84;128;119;108	ENSP00000356169:G262R;ENSP00000356170:G262R;ENSP00000356167:G193R;ENSP00000356166:G84R;ENSP00000405497:G128R;ENSP00000398091:G119R;ENSP00000406241:G108R	.	G	-	1	0	ETNK2	202377066	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	7.431000	0.80335	2.569000	0.86673	0.655000	0.94253	GGT	ETNK2	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.542	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETNK2	HGNC	protein_coding	OTTHUMT00000087893.1	C	NM_018208	Missense_Mutation	204110443	-1	no_errors	ENST00000367201	ensembl	human	known	70_37	missense	SNP	1.000	G
EVC	2121	genome.wustl.edu	37	4	5758045	5758045	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:5758045G>C	ENST00000264956.6	+	11	1703	c.1519G>C	c.(1519-1521)Gag>Cag	p.E507Q	EVC_ENST00000382674.2_Missense_Mutation_p.E507Q|EVC_ENST00000509451.1_Missense_Mutation_p.E507Q	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	507					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCTGGAGGAAGAGGAGAATGT	0.562																																																	0													84.0	76.0	79.0					4																	5758045		2203	4300	6503	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1519G>C	4.37:g.5758045G>C	ENSP00000264956:p.Glu507Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E507Q	ENST00000264956.6	37	c.1519	CCDS3383.1	4	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342866	0.24339	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.58358	0.34;0.34;0.47	5.12	2.34	0.29019	.	0.376195	0.27500	N	0.019091	T	0.46698	0.1406	M	0.61703	1.905	0.22684	N	0.998858	B	0.25563	0.129	B	0.30572	0.117	T	0.35251	-0.9796	10	0.23891	T	0.37	.	8.306	0.32042	0.0839:0.298:0.6181:0.0	.	507	P57679	EVC_HUMAN	Q	507	ENSP00000264956:E507Q;ENSP00000372120:E507Q;ENSP00000426774:E507Q	ENSP00000264956:E507Q	E	+	1	0	EVC	5808946	0.989000	0.36119	0.001000	0.08648	0.008000	0.06430	2.443000	0.44881	0.140000	0.18849	0.650000	0.86243	GAG	EVC	-	NULL		0.562	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVC	HGNC	protein_coding	OTTHUMT00000206859.1	G			5758045	+1	no_errors	ENST00000264956	ensembl	human	known	70_37	missense	SNP	0.278	C
EVI5L	115704	genome.wustl.edu	37	19	7927119	7927119	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7927119G>C	ENST00000270530.4	+	15	1919	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	EVI5L_ENST00000538904.2_Missense_Mutation_p.E586Q	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	575					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GGCCCTGGCCGAGGGCCGCGA	0.736																																																	0													5.0	7.0	7.0					19																	7927119		2125	4194	6319	SO:0001583	missense	115704			BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.1723G>C	19.37:g.7927119G>C	ENSP00000270530:p.Glu575Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6I9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E586Q	ENST00000270530.4	37	c.1756	CCDS12188.1	19	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521857	0.64747	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.39787	1.06;1.06	4.65	4.65	0.58169	.	0.280695	0.38436	N	0.001685	T	0.47021	0.1423	L	0.56769	1.78	0.40856	D	0.983793	P;P	0.47034	0.76;0.889	P;P	0.48368	0.575;0.575	T	0.40251	-0.9573	10	0.26408	T	0.33	-12.8558	15.0636	0.71977	0.0:0.0:1.0:0.0	.	586;575	B9A6I9;Q96CN4	.;EVI5L_HUMAN	Q	575;586	ENSP00000270530:E575Q;ENSP00000445905:E586Q	ENSP00000270530:E575Q	E	+	1	0	EVI5L	7833119	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	5.849000	0.69465	2.424000	0.82194	0.542000	0.68232	GAG	EVI5L	-	NULL		0.736	EVI5L-001	KNOWN	basic|CCDS	protein_coding	EVI5L	HGNC	protein_coding	OTTHUMT00000461347.1	G	NM_145245		7927119	+1	no_errors	ENST00000538904	ensembl	human	known	70_37	missense	SNP	0.998	C
EXOC3L4	91828	genome.wustl.edu	37	14	103568655	103568655	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:103568655G>A	ENST00000380069.3	+	2	671	c.595G>A	c.(595-597)Gag>Aag	p.E199K		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	199					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CATCGTGCGCGAGACGCTGGA	0.721																																																	0													6.0	7.0	7.0					14																	103568655		2081	4132	6213	SO:0001583	missense	91828			AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.595G>A	14.37:g.103568655G>A	ENSP00000369409:p.Glu199Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CR2	Missense_Mutation	SNP	pfam_Sec6	p.E199K	ENST00000380069.3	37	c.595	CCDS32163.1	14	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134690	0.56828	.	.	ENSG00000205436	ENST00000380069	T	0.06687	3.27	4.33	4.33	0.51752	.	0.266030	0.30630	N	0.009218	T	0.12220	0.0297	M	0.65975	2.015	0.25367	N	0.988734	P	0.49307	0.922	B	0.43867	0.434	T	0.16100	-1.0414	10	0.29301	T	0.29	-27.8299	12.1913	0.54273	0.0:0.0:1.0:0.0	.	199	Q17RC7	EX3L4_HUMAN	K	199	ENSP00000369409:E199K	ENSP00000369409:E199K	E	+	1	0	EXOC3L4	102638408	0.986000	0.35501	1.000000	0.80357	0.314000	0.28054	4.901000	0.63259	2.230000	0.72887	0.484000	0.47621	GAG	EXOC3L4	-	pfam_Sec6		0.721	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	HGNC	protein_coding	OTTHUMT00000415663.1	G	XM_941093		103568655	+1	no_errors	ENST00000380069	ensembl	human	known	70_37	missense	SNP	1.000	A
EYA2	2139	genome.wustl.edu	37	20	45607194	45607194	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:45607194G>A	ENST00000327619.5	+	2	364				EYA2_ENST00000357410.3_Intron|EYA2_ENST00000497428.1_3'UTR	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2						DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				acaaggagaagccagatcaag	0.522																																					Pancreas(120;56 1725 18501 25218 43520)												0													69.0	57.0	60.0					20																	45607194		692	1591	2283	SO:0001627	intron_variant	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.-10-11446G>A	20.37:g.45607194G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	RNA	SNP	-	NULL	ENST00000327619.5	37	NULL	CCDS13403.1	20																																																																																			EYA2	-	-		0.522	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	G	NM_005244		45607194	+1	no_errors	ENST00000497428	ensembl	human	known	70_37	rna	SNP	0.001	A
EYS	346007	genome.wustl.edu	37	6	66205254	66205254	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:66205254G>A	ENST00000370621.3	-	4	576	c.50C>T	c.(49-51)tCt>tTt	p.S17F	EYS_ENST00000370618.3_Missense_Mutation_p.S17F|EYS_ENST00000342421.5_Missense_Mutation_p.S17F|EYS_ENST00000503581.1_Missense_Mutation_p.S17F|EYS_ENST00000393380.2_Missense_Mutation_p.S17F|EYS_ENST00000370616.2_Missense_Mutation_p.S17F			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	17					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTTATGAAAGAGCTGTGAAA	0.383																																																	0													70.0	70.0	70.0					6																	66205254		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.50C>T	6.37:g.66205254G>A	ENSP00000359655:p.Ser17Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S17F	ENST00000370621.3	37	c.50		6	.	.	.	.	.	.	.	.	.	.	G	9.540	1.113000	0.20795	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90197	-1.65;-1.64;-1.64;-2.63;-2.59;-2.59	4.76	-2.2	0.06994	.	.	.	.	.	T	0.56470	0.1987	N	0.08118	0	0.09310	N	1	B;B;B	0.16396	0.004;0.017;0.01	B;B;B	0.15052	0.005;0.012;0.005	T	0.50617	-0.8807	9	0.37606	T	0.19	.	1.4219	0.02314	0.3341:0.237:0.3086:0.1203	.	17;17;17	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	F	17	ENSP00000424243:S17F;ENSP00000359655:S17F;ENSP00000359650:S17F;ENSP00000377042:S17F;ENSP00000341818:S17F;ENSP00000359652:S17F	ENSP00000341818:S17F	S	-	2	0	EYS	66261975	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.463000	0.06696	-0.436000	0.07254	-0.293000	0.09583	TCT	EYS	-	NULL		0.383	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	G	XM_294050		66205254	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.000	A
F12	2161	genome.wustl.edu	37	5	176830339	176830339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:176830339G>A	ENST00000253496.3	-	12	1495	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	F12_ENST00000514943.1_5'UTR|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	483	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)		Ethanolamine Oleate(DB06689)	CACACCGGCTGAACGTAAGGC	0.706									Hereditary Angioedema																																								0													24.0	29.0	28.0					5																	176830339		2201	4298	6499	SO:0001587	stop_gained	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1447C>T	5.37:g.176830339G>A	ENSP00000253496:p.Gln483*	Somatic		WXS	Illumina HiSeq	Phase_IV	P78339	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.Q483*	ENST00000253496.3	37	c.1447	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.421772	0.97555	.	.	ENSG00000131187	ENST00000253496	.	.	.	5.31	4.43	0.53597	.	0.305040	0.23842	N	0.044034	.	.	.	.	.	.	0.32294	N	0.565952	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	11.9495	0.52946	0.0:0.1752:0.8248:0.0	.	.	.	.	X	483	.	ENSP00000253496:Q483X	Q	-	1	0	F12	176762945	0.786000	0.28738	0.202000	0.23494	0.975000	0.68041	1.069000	0.30641	1.213000	0.43380	0.491000	0.48974	CAG	F12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6		0.706	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	G			176830339	-1	no_errors	ENST00000253496	ensembl	human	known	70_37	nonsense	SNP	0.410	A
F12	2161	genome.wustl.edu	37	5	176830384	176830384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:176830384G>A	ENST00000253496.3	-	12	1450	c.1402C>T	c.(1402-1404)Cag>Tag	p.Q468*	F12_ENST00000514943.1_5'UTR|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	468	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)		Ethanolamine Oleate(DB06689)	GCATCCTCCTGAAGGCGCAAC	0.731									Hereditary Angioedema																																								0													16.0	20.0	19.0					5																	176830384		2199	4290	6489	SO:0001587	stop_gained	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1402C>T	5.37:g.176830384G>A	ENSP00000253496:p.Gln468*	Somatic		WXS	Illumina HiSeq	Phase_IV	P78339	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.Q468*	ENST00000253496.3	37	c.1402	CCDS34302.1	5	.	.	.	.	.	.	.	.	.	.	G	37	6.061370	0.97246	.	.	ENSG00000131187	ENST00000253496	.	.	.	5.31	3.4	0.38934	.	0.481913	0.17626	N	0.167552	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9987	0.30284	0.0:0.1764:0.6407:0.1828	.	.	.	.	X	468	.	ENSP00000253496:Q468X	Q	-	1	0	F12	176762990	0.964000	0.33143	0.998000	0.56505	0.642000	0.38348	0.857000	0.27831	1.231000	0.43661	0.491000	0.48974	CAG	F12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6		0.731	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F12	HGNC	protein_coding	OTTHUMT00000373217.1	G			176830384	-1	no_errors	ENST00000253496	ensembl	human	known	70_37	nonsense	SNP	1.000	A
F8	2157	genome.wustl.edu	37	X	154221309	154221309	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:154221309G>C	ENST00000360256.4	-	4	703	c.503C>G	c.(502-504)tCt>tGt	p.S168C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	168	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAGTGGGTCAGAGGCCATTGG	0.463																																																	0													271.0	233.0	246.0					X																	154221309		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.503C>G	X.37:g.154221309G>C	ENSP00000353393:p.Ser168Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.S168C	ENST00000360256.4	37	c.503	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788670	0.49997	.	.	ENSG00000185010	ENST00000360256;ENST00000423959;ENST00000453950	D;D;D	0.99080	-5.21;-5.21;-5.4	4.74	3.72	0.42706	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.377369	0.31709	N	0.007186	D	0.98651	0.9548	M	0.65498	2.005	0.28971	N	0.889211	D;D	0.69078	0.997;0.994	P;P	0.62813	0.871;0.907	D	0.95595	0.8658	10	0.66056	D	0.02	-16.2932	7.9299	0.29897	0.0:0.0:0.6831:0.3169	.	133;168	B1B0G8;P00451	.;FA8_HUMAN	C	168;133;162	ENSP00000353393:S168C;ENSP00000409446:S133C;ENSP00000389153:S162C	ENSP00000353393:S168C	S	-	2	0	F8	153874503	0.000000	0.05858	0.998000	0.56505	0.615000	0.37417	0.146000	0.16180	2.085000	0.62840	0.523000	0.50628	TCT	F8	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	G			154221309	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	0.994	C
FAM105A	54491	genome.wustl.edu	37	5	14601467	14601467	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:14601467C>T	ENST00000274217.3	+	4	384	c.264C>T	c.(262-264)ctC>ctT	p.L88L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	88										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAGGGAACCTCAGTGTGGAGG	0.398																																																	0													77.0	74.0	75.0					5																	14601467		2203	4300	6503	SO:0001819	synonymous_variant	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.264C>T	5.37:g.14601467C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53H50|Q9H037	Silent	SNP	prints_FAM105,prints_FAM105A	p.L88	ENST00000274217.3	37	c.264	CCDS3884.1	5																																																																																			FAM105A	-	NULL		0.398	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	C	NM_019018		14601467	+1	no_errors	ENST00000274217	ensembl	human	known	70_37	silent	SNP	1.000	T
FAM107A	11170	genome.wustl.edu	37	3	58552947	58552947	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:58552947C>G	ENST00000394481.1	-	4	873	c.315G>C	c.(313-315)caG>caC	p.Q105H	FAM107A_ENST00000447756.2_Missense_Mutation_p.Q133H|FAM107A_ENST00000360997.2_Missense_Mutation_p.Q105H|FAM107A_ENST00000474531.1_Missense_Mutation_p.Q136H|FAM107A_ENST00000464064.1_Missense_Mutation_p.Q105H	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	105					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GGTTCAGCCTCTGCTGCCGTC	0.632																																																	0													47.0	39.0	42.0					3																	58552947		2203	4300	6503	SO:0001583	missense	11170			AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.315G>C	3.37:g.58552947C>G	ENSP00000377991:p.Gln105His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Missense_Mutation	SNP	pfam_DUF1151	p.Q105H	ENST00000394481.1	37	c.315	CCDS2892.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001648	0.74932	.	.	ENSG00000168309	ENST00000360997;ENST00000394481;ENST00000464064;ENST00000474531;ENST00000447756;ENST00000465970	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.05	4.15	0.48705	.	0.113222	0.64402	D	0.000009	T	0.67859	0.2938	M	0.81497	2.545	0.54753	D	0.999984	D;D;D;D	0.71674	0.997;0.998;0.997;0.995	D;D;D;D	0.85130	0.997;0.994;0.997;0.944	T	0.72047	-0.4408	10	0.87932	D	0	-61.8083	11.8666	0.52496	0.0:0.8581:0.0:0.1419	.	133;105;136;105	B7ZAY5;O95990-2;B3KNQ4;O95990	.;.;.;F107A_HUMAN	H	105;105;105;136;133;105	ENSP00000354270:Q105H;ENSP00000377991:Q105H;ENSP00000419529:Q105H;ENSP00000419124:Q136H;ENSP00000400858:Q133H;ENSP00000418038:Q105H	ENSP00000354270:Q105H	Q	-	3	2	FAM107A	58527987	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.517000	0.45529	2.512000	0.84698	0.591000	0.81541	CAG	FAM107A	-	pfam_DUF1151		0.632	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM107A	HGNC	protein_coding	OTTHUMT00000353585.1	C	NM_007177		58552947	-1	no_errors	ENST00000360997	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM107B	83641	genome.wustl.edu	37	10	14709640	14709640	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:14709640C>T	ENST00000181796.2	-	2	695	c.462G>A	c.(460-462)atG>atA	p.M154I		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACCTGATGTCATTTTCTGCT	0.438																																																	0													145.0	134.0	137.0					10																	14709640		2203	4300	6503	SO:0001583	missense	83641			AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.462G>A	10.37:g.14709640C>T	ENSP00000181796:p.Met154Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Missense_Mutation	SNP	pfam_DUF1151	p.M154I	ENST00000181796.2	37	c.462	CCDS7102.1	10	.	.	.	.	.	.	.	.	.	.	C	6.345	0.431834	0.12045	.	.	ENSG00000065809	ENST00000181796	T	0.44083	0.93	4.52	3.54	0.40534	.	0.778447	0.11835	N	0.524835	T	0.26122	0.0637	N	0.19112	0.55	0.19300	N	0.999973	B	0.21606	0.058	B	0.16722	0.016	T	0.06373	-1.0830	10	0.22109	T	0.4	.	9.2646	0.37634	0.215:0.785:0.0:0.0	.	154	Q9H098-2	.	I	154	ENSP00000181796:M154I	ENSP00000181796:M154I	M	-	3	0	FAM107B	14749646	0.000000	0.05858	0.018000	0.16275	0.015000	0.08874	0.700000	0.25601	2.518000	0.84900	0.555000	0.69702	ATG	FAM107B	-	NULL		0.438	FAM107B-001	KNOWN	basic|CCDS	protein_coding	FAM107B	HGNC	protein_coding	OTTHUMT00000356966.1	C	NM_031453		14709640	-1	no_errors	ENST00000181796	ensembl	human	known	70_37	missense	SNP	0.013	T
FAM126A	84668	genome.wustl.edu	37	7	22985680	22985680	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:22985680G>C	ENST00000432176.2	-	11	1326	c.1094C>G	c.(1093-1095)tCa>tGa	p.S365*	FAM126A_ENST00000409923.1_3'UTR|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	365					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ACTACTGTTTGATAAACCCGA	0.423																																																	0													104.0	109.0	107.0					7																	22985680		2203	4300	6503	SO:0001587	stop_gained	84668			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.1094C>G	7.37:g.22985680G>C	ENSP00000403396:p.Ser365*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Nonsense_Mutation	SNP	pfam_Hyccin	p.S365*	ENST00000432176.2	37	c.1094	CCDS5377.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.676083	0.96764	.	.	ENSG00000122591	ENST00000432176	.	.	.	6.17	5.3	0.74995	.	0.275715	0.42548	D	0.000694	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	0.3443	15.5968	0.76590	0.0655:0.0:0.9345:0.0	.	.	.	.	X	365	.	ENSP00000403396:S365X	S	-	2	0	FAM126A	22952205	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.053000	0.57427	1.627000	0.50400	0.655000	0.94253	TCA	FAM126A	-	NULL		0.423	FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126A	HGNC	protein_coding	OTTHUMT00000250230.1	G	NM_032581		22985680	-1	no_errors	ENST00000432176	ensembl	human	known	70_37	nonsense	SNP	1.000	C
FAM13C	220965	genome.wustl.edu	37	10	61043192	61043192	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:61043192C>G	ENST00000373868.2	-	6	610	c.523G>C	c.(523-525)Gtg>Ctg	p.V175L	FAM13C_ENST00000373867.3_Missense_Mutation_p.V92L|FAM13C_ENST00000422313.2_Missense_Mutation_p.V175L|FAM13C_ENST00000442566.3_Missense_Mutation_p.V196L|RP11-443O13.3_ENST00000433249.1_RNA|FAM13C_ENST00000468840.2_Missense_Mutation_p.V92L|FAM13C_ENST00000435852.2_Missense_Mutation_p.V175L|FAM13C_ENST00000277705.6_Missense_Mutation_p.V196L|FAM13C_ENST00000419214.2_Missense_Mutation_p.V175L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	175										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACTCCATGCACCTGAGCAGCT	0.527																																																	0													146.0	142.0	143.0					10																	61043192		2203	4300	6503	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.523G>C	10.37:g.61043192C>G	ENSP00000362975:p.Val175Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	NULL	p.V175L	ENST00000373868.2	37	c.523	CCDS7255.1	10	.	.	.	.	.	.	.	.	.	.	C	12.22	1.871244	0.33069	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T;T	0.76448	-0.99;0.98;-1.02;-1.02;0.97;-0.99;0.98;0.99	4.85	3.87	0.44632	.	0.225469	0.30686	N	0.009100	T	0.67002	0.2847	L	0.38838	1.175	0.30309	N	0.788716	B;B;B;B;B	0.18968	0.011;0.002;0.032;0.004;0.011	B;B;B;B;B	0.17098	0.014;0.004;0.017;0.005;0.01	T	0.59804	-0.7385	10	0.20046	T	0.44	-10.7478	13.6775	0.62462	0.0:0.7447:0.2553:0.0	.	175;92;175;175;175	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	92;175;196;196;175;92;175;175	ENSP00000362974:V92L;ENSP00000362975:V175L;ENSP00000395661:V196L;ENSP00000277705:V196L;ENSP00000391993:V175L;ENSP00000423896:V92L;ENSP00000392302:V175L;ENSP00000400241:V175L	ENSP00000277705:V196L	V	-	1	0	FAM13C	60713198	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.165000	0.31822	2.388000	0.81334	0.563000	0.77884	GTG	FAM13C	-	NULL		0.527	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM13C	HGNC	protein_coding	OTTHUMT00000048162.2	C			61043192	-1	no_errors	ENST00000373868	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM149B1	317662	genome.wustl.edu	37	10	74994761	74994761	+	Intron	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:74994761G>T	ENST00000242505.6	+	11	1650					NM_173348.1	NP_775483.1	Q96BN6	F149B_HUMAN	family with sequence similarity 149, member B1											breast(2)|endometrium(1)|kidney(1)|stomach(3)	7						CAGTAATTCTGCAGGATCTGT	0.423																																																	0																																										SO:0001627	intron_variant	317662			AB023191	CCDS44435.1	10q22.2	2008-10-27	2007-11-14	2007-11-14	ENSG00000138286	ENSG00000138286			29162	protein-coding gene	gene with protein product			"""KIAA0974"""	KIAA0974		10231032	Standard	NM_173348		Approved		uc009xqz.3	Q96BN6	OTTHUMG00000067794	ENST00000242505.6:c.1476+63G>T	10.37:g.74994761G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y2I0	RNA	SNP	-	NULL	ENST00000242505.6	37	NULL	CCDS44435.1	10																																																																																			FAM149B1	-	-		0.423	FAM149B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM149B1	HGNC	protein_coding	OTTHUMT00000145438.1	G	NM_173348		74994761	+1	no_errors	ENST00000468462	ensembl	human	known	70_37	rna	SNP	0.520	T
FAM162B	221303	genome.wustl.edu	37	6	117086414	117086414	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:117086414C>G	ENST00000368557.4	-	2	323	c.177G>C	c.(175-177)gaG>gaC	p.E59D		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	59						integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)	6						CTCGGTGAATCTCCCCTGCAG	0.642																																																	0													39.0	43.0	41.0					6																	117086414		2171	4281	6452	SO:0001583	missense	221303			BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.177G>C	6.37:g.117086414C>G	ENSP00000357545:p.Glu59Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IXW8	Missense_Mutation	SNP	pfam_DUF1075	p.E59D	ENST00000368557.4	37	c.177	CCDS43497.1	6	.	.	.	.	.	.	.	.	.	.	C	9.229	1.035379	0.19590	.	.	ENSG00000183807	ENST00000368557	T	0.32515	1.45	3.65	-0.316	0.12743	.	0.426223	0.25481	N	0.030372	T	0.04137	0.0115	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40850	-0.9541	10	0.12430	T	0.62	-1.1901	3.42	0.07389	0.0:0.4446:0.2008:0.3546	.	59	Q5T6X4	F162B_HUMAN	D	59	ENSP00000357545:E59D	ENSP00000357545:E59D	E	-	3	2	FAM162B	117193107	0.012000	0.17670	0.006000	0.13384	0.018000	0.09664	0.054000	0.14205	-0.076000	0.12775	0.561000	0.74099	GAG	FAM162B	-	pfam_DUF1075		0.642	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162B	HGNC	protein_coding	OTTHUMT00000041965.1	C	XM_927381		117086414	-1	no_errors	ENST00000368557	ensembl	human	known	70_37	missense	SNP	0.007	G
FAM171A2	284069	genome.wustl.edu	37	17	42432383	42432383	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:42432383G>A	ENST00000293443.7	-	8	1359	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L		NM_198475.2	NP_940877.2	A8MVW0	F1712_HUMAN	family with sequence similarity 171, member A2	400						integral component of membrane (GO:0016021)											GGAGAAGGCCGAGTGGAGGGG	0.731																																																	0													6.0	8.0	7.0					17																	42432383		683	1576	2259	SO:0001583	missense	284069				CCDS45701.1	17q21.31	2008-06-16			ENSG00000161682	ENSG00000161682			30480	protein-coding gene	gene with protein product						12477932	Standard	NM_198475		Approved	MGC34829	uc002igs.2	A8MVW0	OTTHUMG00000132421	ENST00000293443.7:c.1199C>T	17.37:g.42432383G>A	ENSP00000293443:p.Ser400Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB4	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171,superfamily_Collagen-bd_Cna_B-typ_dom	p.S400L	ENST00000293443.7	37	c.1199	CCDS45701.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452634	0.84209	.	.	ENSG00000161682	ENST00000293443	T	0.31247	1.5	5.13	5.13	0.70059	.	0.227211	0.27792	U	0.017831	T	0.20780	0.0500	L	0.28115	0.83	0.40719	D	0.98264	P	0.42757	0.789	B	0.30782	0.12	T	0.07558	-1.0766	10	0.46703	T	0.11	-15.0336	17.3456	0.87308	0.0:0.0:1.0:0.0	.	400	A8MVW0	F1712_HUMAN	L	400	ENSP00000293443:S400L	ENSP00000293443:S400L	S	-	2	0	FAM171A2	39787909	1.000000	0.71417	0.982000	0.44146	0.973000	0.67179	5.779000	0.68948	2.394000	0.81467	0.297000	0.19635	TCG	FAM171A2	-	pfam_Uncharacterised_FAM171		0.731	FAM171A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A2	HGNC	protein_coding	OTTHUMT00000255559.2	G	NM_198475		42432383	-1	no_errors	ENST00000293443	ensembl	human	known	70_37	missense	SNP	0.968	A
FAM193A	8603	genome.wustl.edu	37	4	2691423	2691423	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2691423C>T	ENST00000324666.5	+	12	2000	c.1649C>T	c.(1648-1650)aCa>aTa	p.T550I	FAM193A_ENST00000502458.1_Missense_Mutation_p.T572I|FAM193A_ENST00000545951.1_Missense_Mutation_p.T550I|FAM193A_ENST00000505311.1_Missense_Mutation_p.T550I|FAM193A_ENST00000382839.3_Missense_Mutation_p.T550I	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	550										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGCCAGATACAATTTCTGGT	0.403																																																	0													52.0	56.0	54.0					4																	2691423		2202	4300	6502	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1649C>T	4.37:g.2691423C>T	ENSP00000324587:p.Thr550Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.T550I	ENST00000324666.5	37	c.1649	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012918	0.75161	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	5.38	5.38	0.77491	.	0.181277	0.51477	D	0.000086	T	0.44456	0.1294	L	0.40543	1.245	0.41628	D	0.989001	D;D;D;D;D	0.76494	0.99;0.999;0.99;0.99;0.971	P;D;P;P;P	0.80764	0.858;0.994;0.858;0.776;0.776	T	0.35968	-0.9767	10	0.66056	D	0.02	-22.3052	18.1813	0.89779	0.0:1.0:0.0:0.0	.	550;572;550;572;550	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	I	550;550;550;572;404	ENSP00000372290:T550I;ENSP00000324587:T550I;ENSP00000443617:T550I;ENSP00000427505:T572I;ENSP00000427260:T404I	ENSP00000324587:T550I	T	+	2	0	FAM193A	2661221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.142000	0.58044	2.532000	0.85374	0.558000	0.71614	ACA	FAM193A	-	NULL		0.403	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	C	NM_003704		2691423	+1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM193A	8603	genome.wustl.edu	37	4	2701666	2701666	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2701666C>A	ENST00000324666.5	+	17	3245	c.2894C>A	c.(2893-2895)tCt>tAt	p.S965Y	FAM193A_ENST00000502458.1_Missense_Mutation_p.S987Y|FAM193A_ENST00000545951.1_Missense_Mutation_p.S965Y|FAM193A_ENST00000505311.1_Missense_Mutation_p.S965Y|FAM193A_ENST00000382839.3_Missense_Mutation_p.S965Y	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	965										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTTCCTAACTCTGGAAACATC	0.488																																																	0													99.0	100.0	100.0					4																	2701666		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2894C>A	4.37:g.2701666C>A	ENSP00000324587:p.Ser965Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.S965Y	ENST00000324666.5	37	c.2894	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044630	0.75732	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.33865	1.39;1.8;1.4;1.4;1.41	5.69	5.69	0.88448	.	0.456472	0.25329	N	0.031446	T	0.56001	0.1956	L	0.50333	1.59	0.47276	D	0.99937	D;P;D;D;D	0.64830	0.974;0.944;0.969;0.994;0.974	P;P;P;D;P	0.67900	0.804;0.66;0.66;0.954;0.804	T	0.55573	-0.8120	10	0.87932	D	0	-6.6892	18.8075	0.92043	0.0:1.0:0.0:0.0	.	965;987;965;987;965	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	Y	965;965;965;987;819	ENSP00000372290:S965Y;ENSP00000324587:S965Y;ENSP00000443617:S965Y;ENSP00000427505:S987Y;ENSP00000427260:S819Y	ENSP00000324587:S965Y	S	+	2	0	FAM193A	2671464	0.916000	0.31088	0.467000	0.27180	0.470000	0.32858	3.862000	0.56009	2.699000	0.92147	0.650000	0.86243	TCT	FAM193A	-	NULL		0.488	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	C	NM_003704		2701666	+1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	0.987	A
PRPF4B	8899	genome.wustl.edu	37	6	4049817	4049817	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:4049817C>G	ENST00000337659.6	+	9	2126				PRPF4B_ENST00000538861.1_Intron	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B						mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ATAGAGTGATCAGTGGAGGCA	0.378																																																	0																																										SO:0001627	intron_variant	222826			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2027-149C>G	6.37:g.4049817C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	RNA	SNP	-	NULL	ENST00000337659.6	37	NULL	CCDS4488.1	6																																																																																			FAM217A	-	-		0.378	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217A	HGNC	protein_coding	OTTHUMT00000314018.2	C			4049817	-1	no_errors	ENST00000463904	ensembl	human	known	70_37	rna	SNP	0.000	G
FAM21C	253725	genome.wustl.edu	37	10	46222947	46222947	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:46222947G>A	ENST00000336378.4	+	2	204	c.86G>A	c.(85-87)cGc>cAc	p.R29H	FAM21FP_ENST00000608637.1_RNA|FAM21C_ENST00000359860.4_Missense_Mutation_p.R28H|FAM21C_ENST00000374362.2_Missense_Mutation_p.R29H|FAM21C_ENST00000540872.1_Missense_Mutation_p.R29H|FAM21C_ENST00000537517.1_Missense_Mutation_p.R29H	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	29					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGGAGATCCGCAGGAGCAGC	0.721																																																	0													7.0	10.0	9.0					10																	46222947		1794	3999	5793	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.86G>A	10.37:g.46222947G>A	ENSP00000337541:p.Arg29His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.R29H	ENST00000336378.4	37	c.86		10	.	.	.	.	.	.	.	.	.	.	G	32	5.127430	0.94473	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000420848	.	.	.	4.2	4.2	0.49525	.	0.065013	0.64402	D	0.000009	T	0.72439	0.3460	M	0.81942	2.565	0.29368	N	0.864181	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.996;0.999;0.999;0.994	T	0.70806	-0.4772	9	0.59425	D	0.04	-5.5591	14.0837	0.64942	0.0:0.0:1.0:0.0	.	29;29;29;29	F5H871;Q9Y4E1-4;Q9Y4E1;Q9Y4E1-3	.;.;FA21C_HUMAN;.	H	29;29;29;29;29;28;29	.	ENSP00000337541:R29H	R	+	2	0	FAM21C	45542953	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.741000	0.55090	2.153000	0.67306	0.563000	0.77884	CGC	FAM21C	-	NULL		0.721	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		G			46222947	+1	no_errors	ENST00000374362	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM21A	387680	genome.wustl.edu	37	10	51889698	51889698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:51889698G>T	ENST00000282633.5	+	29	3652	c.3607G>T	c.(3607-3609)Gaa>Taa	p.E1203*	FAM21A_ENST00000314664.7_Nonsense_Mutation_p.E1141*|FAM21A_ENST00000351071.6_Nonsense_Mutation_p.E1182*|FAM21A_ENST00000399339.2_Nonsense_Mutation_p.E1115*	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	1203					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						TCCTCTCCTGGAAGATGAGGA	0.408																																																	0													3.0	2.0	2.0					10																	51889698		913	2058	2971	SO:0001587	stop_gained	387680			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.3607G>T	10.37:g.51889698G>T	ENSP00000282633:p.Glu1203*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3S2|A2A3U6|Q6DHY0	Nonsense_Mutation	SNP	NULL	p.E1203*	ENST00000282633.5	37	c.3607	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	g	41	8.581135	0.98872	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000282633;ENST00000399339	.	.	.	4.14	4.14	0.48551	.	0.277828	0.42053	D	0.000771	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.5846	12.3184	0.54971	0.0:0.0:1.0:0.0	.	.	.	.	X	1182;1141;1203;1115	.	.	E	+	1	0	FAM21A	51559704	1.000000	0.71417	0.891000	0.34965	0.678000	0.39670	8.609000	0.90898	2.011000	0.59026	0.184000	0.17185	GAA	FAM21A	-	NULL		0.408	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	G	NM_001005751		51889698	+1	no_errors	ENST00000282633	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FAM222A	84915	genome.wustl.edu	37	12	110206094	110206094	+	Silent	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:110206094G>T	ENST00000538780.1	+	3	1076	c.360G>T	c.(358-360)ggG>ggT	p.G120G	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Silent_p.G120G	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	120																	CACCAGCTGGGCCCGCCAAAA	0.677																																																	0													15.0	13.0	14.0					12																	110206094		2192	4279	6471	SO:0001819	synonymous_variant	84915			AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.360G>T	12.37:g.110206094G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NCD5|Q96SP6	Silent	SNP	NULL	p.G120	ENST00000538780.1	37	c.360	CCDS9133.1	12																																																																																			FAM222A	-	NULL		0.677	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222A	HGNC	protein_coding	OTTHUMT00000403175.1	G	NM_032829		110206094	+1	no_errors	ENST00000358906	ensembl	human	known	70_37	silent	SNP	0.005	T
FAM222B	55731	genome.wustl.edu	37	17	27086726	27086726	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:27086726G>C	ENST00000341217.5	-	3	466	c.251C>G	c.(250-252)tCa>tGa	p.S84*	FAM222B_ENST00000583522.1_3'UTR|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000452648.3_Nonsense_Mutation_p.S84*|FAM222B_ENST00000581381.1_3'UTR|FAM222B_ENST00000581407.1_Nonsense_Mutation_p.S84*|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000577682.1_3'UTR	NM_018182.2	NP_060652.2	Q8WU58	F222B_HUMAN	family with sequence similarity 222, member B	84																	GCGCTGGGCTGATGTGTCGAG	0.542																																																	0													68.0	72.0	70.0					17																	27086726		2112	4243	6355	SO:0001587	stop_gained	55731			AK001562	CCDS45637.1, CCDS74022.1	17q11.2	2012-04-27	2012-04-27	2012-04-27	ENSG00000173065	ENSG00000173065			25563	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 63"""	C17orf63			Standard	NM_001288631		Approved	FLJ10700	uc010way.1	Q8WU58		ENST00000341217.5:c.251C>G	17.37:g.27086726G>C	ENSP00000343115:p.Ser84*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H6F3|Q9NVJ4|Q9NXN6	Nonsense_Mutation	SNP	NULL	p.S84*	ENST00000341217.5	37	c.251	CCDS45637.1	17	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512773	0.64522	.	.	ENSG00000173065	ENST00000341217;ENST00000452648	.	.	.	4.97	4.0	0.46444	.	0.072554	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.4972	12.5811	0.56391	0.08:0.0:0.92:0.0	.	.	.	.	X	84	.	ENSP00000343115:S84X	S	-	2	0	C17orf63	24110852	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.247000	0.95444	1.324000	0.45282	0.561000	0.74099	TCA	FAM222B	-	NULL		0.542	FAM222B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM222B	HGNC	protein_coding	OTTHUMT00000446703.1	G	NM_018182		27086726	-1	no_errors	ENST00000341217	ensembl	human	known	70_37	nonsense	SNP	1.000	C
NUTM2G	441457	genome.wustl.edu	37	9	99700821	99700821	+	Missense_Mutation	SNP	C	C	T	rs377529446		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:99700821C>T	ENST00000372322.3	+	7	1637	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000354649.3_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	539																	CCACCCCAGACGGCTGCCCAG	0.622																																																	0								C	,MET/THR	0,1384		0,0,692	87.0	91.0	90.0		,1616	-2.0	0.0	9		90	1,3181		0,1,1590	no	intron,missense	FAM22G	NM_001045477.2,NM_001170741.1	,81	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	,	,539/742	99700821	1,4565	692	1591	2283	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1616C>T	9.37:g.99700821C>T	ENSP00000361397:p.Thr539Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.T539M	ENST00000372322.3	37	c.1616	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	0.042	-1.279659	0.01410	0.0	3.14E-4	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.10860	2.83	1.01	-2.02	0.07388	.	1.795410	0.02645	N	0.105819	T	0.10465	0.0256	L	0.48362	1.52	0.09310	N	1	.	.	.	.	.	.	T	0.17018	-1.0383	8	0.26408	T	0.33	.	2.0539	0.03577	0.2554:0.3438:0.0:0.4008	.	.	.	.	M	539;388;420	ENSP00000361397:T539M	ENSP00000361397:T539M	T	+	2	0	FAM22G	98740642	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.273000	0.01164	-1.246000	0.02510	-0.370000	0.07254	ACG	FAM22G	-	NULL		0.622	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	C	NM_001170741		99700821	+1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM49B	51571	genome.wustl.edu	37	8	130864412	130864412	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:130864412G>C	ENST00000519824.2	-	8	902	c.629C>G	c.(628-630)tCa>tGa	p.S210*	FAM49B_ENST00000522746.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000519540.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000522941.1_Nonsense_Mutation_p.S64*|FAM49B_ENST00000523509.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000517654.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000401979.2_Nonsense_Mutation_p.S210*|FAM49B_ENST00000519110.1_Nonsense_Mutation_p.S210*|FAM49B_ENST00000522250.1_Nonsense_Mutation_p.S64*	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	210						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCTTACCTCTGATACAAATTT	0.398																																																	0													146.0	121.0	129.0					8																	130864412		2203	4300	6503	SO:0001587	stop_gained	51571			AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.629C>G	8.37:g.130864412G>C	ENSP00000429150:p.Ser210*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AZ5|Q9NW21|Q9NZE7	Nonsense_Mutation	SNP	pfam_DUF1394	p.S210*	ENST00000519824.2	37	c.629	CCDS6361.1	8	.	.	.	.	.	.	.	.	.	.	G	39	7.768547	0.98480	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000522250;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000522941;ENST00000311292	.	.	.	5.98	5.98	0.97165	.	0.060484	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-18.3599	19.4463	0.94849	0.0:0.0:1.0:0.0	.	.	.	.	X	210;210;210;210;64;210;210;210;64;164	.	ENSP00000311651:S164X	S	-	2	0	FAM49B	130933594	1.000000	0.71417	0.984000	0.44739	0.725000	0.41563	7.863000	0.87023	2.835000	0.97688	0.650000	0.86243	TCA	FAM49B	-	pfam_DUF1394		0.398	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM49B	HGNC	protein_coding	OTTHUMT00000380390.2	G	NM_016623		130864412	-1	no_errors	ENST00000401979	ensembl	human	known	70_37	nonsense	SNP	0.996	C
GAREML	150946	genome.wustl.edu	37	2	26410287	26410287	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:26410287G>A	ENST00000401533.2	+	6	1916	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	GAREML_ENST00000496070.1_3'UTR|GAREML_ENST00000407684.1_Intron	NM_001168241.1	NP_001161713.1	Q75VX8	GAREL_HUMAN	GRB2 associated, regulator of MAPK1-like	596	Pro-rich.					extracellular vesicular exosome (GO:0070062)											CGGTCGAGCCGCCTCCCTTCT	0.662																																																	0													71.0	67.0	68.0					2																	26410287		692	1591	2283	SO:0001583	missense	150946			AK090454, AB015349, AB124552	CCDS54336.1, CCDS54337.1	2p23.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000157833	ENSG00000157833			27172	protein-coding gene	gene with protein product			"""family with sequence similarity 59, member B"""	FAM59B			Standard	NM_001168241		Approved	KIAA2038, FLJ00375	uc002rgw.2	Q75VX8	OTTHUMG00000151935	ENST00000401533.2:c.1786G>A	2.37:g.26410287G>A	ENSP00000384593:p.Ala596Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MC97|B7WNK9|Q8NF27|Q9UIK8	Missense_Mutation	SNP	superfamily_SAM/pointed	p.A596T	ENST00000401533.2	37	c.1786	CCDS54336.1	2	.	.	.	.	.	.	.	.	.	.	G	0.116	-1.132222	0.01756	.	.	ENSG00000157833	ENST00000401533	T	0.13307	2.6	5.2	-0.73	0.11154	.	1.463100	0.04536	N	0.387133	T	0.04543	0.0124	N	0.02916	-0.46	0.21445	N	0.999683	B	0.09022	0.002	B	0.04013	0.001	T	0.34601	-0.9822	10	0.15066	T	0.55	-4.8854	0.5517	0.00664	0.3411:0.1723:0.311:0.1756	.	596	Q75VX8	FA59B_HUMAN	T	596	ENSP00000384593:A596T	ENSP00000384593:A596T	A	+	1	0	FAM59B	26263791	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.204000	0.09425	-0.041000	0.13558	-0.229000	0.12294	GCC	FAM59B	-	NULL		0.662	GAREML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM59B	HGNC	protein_coding	OTTHUMT00000324498.2	G	NM_001168241		26410287	+1	no_errors	ENST00000401533	ensembl	human	known	70_37	missense	SNP	0.002	A
GAREML	150946	genome.wustl.edu	37	2	26410897	26410897	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:26410897C>T	ENST00000401533.2	+	6	2526	c.2396C>T	c.(2395-2397)tCc>tTc	p.S799F	GAREML_ENST00000407684.1_Missense_Mutation_p.S589F	NM_001168241.1	NP_001161713.1	Q75VX8	GAREL_HUMAN	GRB2 associated, regulator of MAPK1-like	799						extracellular vesicular exosome (GO:0070062)											GATGCCTCCTCCTGGCAGCCC	0.627																																																	0													57.0	52.0	54.0					2																	26410897		692	1591	2283	SO:0001583	missense	150946			AK090454, AB015349, AB124552	CCDS54336.1, CCDS54337.1	2p23.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000157833	ENSG00000157833			27172	protein-coding gene	gene with protein product			"""family with sequence similarity 59, member B"""	FAM59B			Standard	NM_001168241		Approved	KIAA2038, FLJ00375	uc002rgw.2	Q75VX8	OTTHUMG00000151935	ENST00000401533.2:c.2396C>T	2.37:g.26410897C>T	ENSP00000384593:p.Ser799Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MC97|B7WNK9|Q8NF27|Q9UIK8	Missense_Mutation	SNP	superfamily_SAM/pointed	p.S799F	ENST00000401533.2	37	c.2396	CCDS54336.1	2	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766746	0.69878	.	.	ENSG00000157833	ENST00000401533;ENST00000407684	T;T	0.17054	2.3;2.3	5.13	4.25	0.50352	.	0.741349	0.12719	N	0.444913	T	0.19127	0.0459	L	0.29908	0.895	0.20074	N	0.999931	D;D	0.54207	0.965;0.965	P;P	0.51079	0.658;0.658	T	0.06991	-1.0796	10	0.72032	D	0.01	-15.3654	8.3198	0.32121	0.0:0.8239:0.0:0.1761	.	589;799	B7WNK9;Q75VX8	.;FA59B_HUMAN	F	799;589	ENSP00000384593:S799F;ENSP00000384581:S589F	ENSP00000384593:S799F	S	+	2	0	FAM59B	26264401	0.415000	0.25416	1.000000	0.80357	0.987000	0.75469	4.327000	0.59247	2.399000	0.81585	0.655000	0.94253	TCC	FAM59B	-	NULL		0.627	GAREML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM59B	HGNC	protein_coding	OTTHUMT00000324498.2	C	NM_001168241		26410897	+1	no_errors	ENST00000401533	ensembl	human	known	70_37	missense	SNP	0.988	T
FAM63B	54629	genome.wustl.edu	37	15	59064305	59064305	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59064305C>T	ENST00000559228.1	+	1	793	c.711C>T	c.(709-711)ttC>ttT	p.F237F	RP11-30K9.6_ENST00000500929.2_lincRNA|FAM63B_ENST00000450403.2_Silent_p.F237F			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	237										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AGGAACGCTTCCCGGGACAAT	0.617																																																	0													60.0	67.0	65.0					15																	59064305		2085	4209	6294	SO:0001819	synonymous_variant	54629			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.711C>T	15.37:g.59064305C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT8|Q9ULQ6	Silent	SNP	pfam_DUF544	p.F237	ENST00000559228.1	37	c.711	CCDS42046.1	15																																																																																			FAM63B	-	NULL		0.617	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM63B	HGNC	protein_coding	OTTHUMT00000416230.1	C	NM_019092		59064305	+1	no_errors	ENST00000559228	ensembl	human	known	70_37	silent	SNP	1.000	T
FAM65B	9750	genome.wustl.edu	37	6	24873921	24873921	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:24873921G>A	ENST00000259698.4	-	3	383	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	FAM65B_ENST00000510784.2_Nonsense_Mutation_p.Q104*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.Q70*|FAM65B_ENST00000538035.1_Nonsense_Mutation_p.Q99*|FAM65B_ENST00000378023.4_Nonsense_Mutation_p.Q70*	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	70	Involved in cell filopodia formation.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTTTAGGCTGAGGCTCTTTG	0.443																																																	0													132.0	121.0	124.0					6																	24873921		1825	4084	5909	SO:0001587	stop_gained	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.208C>T	6.37:g.24873921G>A	ENSP00000259698:p.Gln70*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q70*	ENST00000259698.4	37	c.208	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	G	38	6.835498	0.97873	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.1821	19.7096	0.96089	0.0:0.0:1.0:0.0	.	.	.	.	X	70;99;70;70;104	.	ENSP00000259698:Q70X	Q	-	1	0	FAM65B	24981900	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.447000	0.97595	2.652000	0.90054	0.655000	0.94253	CAG	FAM65B	-	NULL		0.443	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	G			24873921	-1	no_errors	ENST00000259698	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM91A1	157769	genome.wustl.edu	37	8	124797868	124797868	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:124797868G>A	ENST00000334705.7	+	11	1095		c.e11-1		FAM91A1_ENST00000521166.1_Splice_Site	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1											breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ATTCCTTTCAGAATGCTGTTT	0.318																																																	0													76.0	69.0	72.0					8																	124797868		1815	4071	5886	SO:0001630	splice_region_variant	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.850-1G>A	8.37:g.124797868G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B6YY23|Q658T5|Q8TE89	Splice_Site	SNP	-	e11-1	ENST00000334705.7	37	c.850-1	CCDS6346.2	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559930	0.86335	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.765	0.96335	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM91A1	124867049	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.757000	0.98924	2.748000	0.94277	0.552000	0.68991	.	FAM91A1	-	-		0.318	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM91A1	HGNC	protein_coding	OTTHUMT00000256607.1	G	NM_144963	Intron	124797868	+1	no_errors	ENST00000334705	ensembl	human	known	70_37	splice_site	SNP	1.000	A
FAM98A	25940	genome.wustl.edu	37	2	33810301	33810301	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:33810301C>T	ENST00000238823.8	-	8	1239	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.D172N|FAM98A_ENST00000498340.1_5'Flank			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	368	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCACCATGGTCATAGCCACCA	0.582																																																	0													187.0	152.0	164.0					2																	33810301		2203	4300	6503	SO:0001583	missense	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1099G>A	2.37:g.33810301C>T	ENSP00000238823:p.Asp367Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.D367N	ENST00000238823.8	37	c.1099	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706406	0.48412	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000441530	T;D	0.82893	0.81;-1.66	5.56	4.69	0.59074	.	0.305972	0.34932	N	0.003570	T	0.68044	0.2958	N	0.08118	0	0.46521	D	0.999084	P;P;B;P	0.34522	0.455;0.455;0.447;0.455	B;B;B;B	0.37451	0.127;0.127;0.25;0.127	T	0.64993	-0.6276	10	0.11794	T	0.64	-9.9942	14.3707	0.66838	0.0:0.929:0.0:0.071	.	368;198;367;205	Q8NCA5;B4DY25;Q8NCA5-2;B3KTW4	FA98A_HUMAN;.;.;.	N	367;368;172	ENSP00000238823:D367N;ENSP00000408716:D172N	ENSP00000238823:D367N	D	-	1	0	FAM98A	33663805	1.000000	0.71417	0.934000	0.37439	0.917000	0.54804	5.599000	0.67592	1.358000	0.45922	0.491000	0.48974	GAC	FAM98A	-	NULL		0.582	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	C	NM_015475		33810301	-1	no_errors	ENST00000238823	ensembl	human	known	70_37	missense	SNP	1.000	T
FANCA	2175	genome.wustl.edu	37	16	89806408	89806408	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89806408C>G	ENST00000389301.3	-	39	3958	c.3928G>C	c.(3928-3930)Gag>Cag	p.E1310Q	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.E1310Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1310					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTACCACTCTCTGTCAACTGA	0.512			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0													157.0	157.0	157.0					16																	89806408		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3928G>C	16.37:g.89806408C>G	ENSP00000373952:p.Glu1310Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.E1310Q	ENST00000389301.3	37	c.3928	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029196	0.35797	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.83755	-1.76	5.34	3.02	0.34903	.	0.378699	0.25344	N	0.031359	D	0.86990	0.6066	M	0.67953	2.075	0.28726	N	0.902766	D;D;D	0.63880	0.992;0.993;0.993	P;D;D	0.63113	0.883;0.911;0.911	T	0.79976	-0.1576	10	0.40728	T	0.16	-10.1068	10.0142	0.42006	0.0:0.788:0.0:0.212	.	287;1310;1310	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	Q	1310;287	ENSP00000373952:E1310Q	ENSP00000306281:E287Q	E	-	1	0	FANCA	88333909	0.146000	0.22672	0.208000	0.23602	0.066000	0.16364	0.665000	0.25083	1.395000	0.46643	0.555000	0.69702	GAG	FANCA	-	pfam_Fanconia,prints_Fanconia		0.512	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	C			89806408	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	missense	SNP	0.354	G
FANCD2	2177	genome.wustl.edu	37	3	10074515	10074515	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:10074515G>C	ENST00000419585.1	+	3	225		c.e3-1		FANCD2_ENST00000287647.3_Splice_Site|FANCD2_ENST00000431693.1_Splice_Site|FANCD2_ENST00000383806.1_Splice_Site|FANCD2_ENST00000383807.1_Splice_Site			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCTATTTTCAGAAACCAGGAA	0.303			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													63.0	67.0	66.0					3																	10074515		2197	4288	6485	SO:0001630	splice_region_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.65-1G>C	3.37:g.10074515G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	SNP	-	e2-1	ENST00000419585.1	37	c.65-1	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	2.732	-0.264116	0.05754	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585;ENST00000431693	.	.	.	6.01	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6586	0.23000	0.2206:0.1292:0.6502:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FANCD2	10049515	1.000000	0.71417	0.028000	0.17463	0.034000	0.12701	3.423000	0.52756	0.431000	0.26258	0.643000	0.83706	.	FANCD2	-	-		0.303	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	G		Intron	10074515	+1	no_errors	ENST00000287647	ensembl	human	known	70_37	splice_site	SNP	0.361	C
FAS	355	genome.wustl.edu	37	10	90771815	90771815	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:90771815C>T	ENST00000355279.2	+	7	628	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	FAS_ENST00000355740.2_Missense_Mutation_p.H210Y|FAS_ENST00000352159.4_Missense_Mutation_p.H210Y|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.H189Y			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CCAAGGTTCTCATGAATCTCC	0.348																																																	0													114.0	116.0	115.0					10																	90771815		2203	4300	6503	SO:0001583	missense	355			M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.628C>T	10.37:g.90771815C>T	ENSP00000347426:p.His210Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt	p.H210Y	ENST00000355279.2	37	c.628	CCDS7395.1	10	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.928730	0.00493	.	.	ENSG00000026103	ENST00000540197;ENST00000355740;ENST00000352159;ENST00000357339;ENST00000355279;ENST00000371875	D;T;D;T	0.92699	-3.09;-0.66;-2.08;-0.58	3.34	-4.47	0.03525	.	10.426800	0.00166	N	0.000000	D	0.82962	0.5151	L	0.40543	1.245	0.09310	N	1	P;B;P	0.41008	0.735;0.353;0.641	B;B;B	0.30716	0.072;0.042;0.119	T	0.75442	-0.3316	10	0.30078	T	0.28	10.7428	1.6535	0.02776	0.1442:0.1957:0.1645:0.4955	.	189;210;210	P25445-6;Q5T9P3;P25445	.;.;TNR6_HUMAN	Y	237;210;210;189;210;210	ENSP00000347979:H210Y;ENSP00000345601:H210Y;ENSP00000349896:H189Y;ENSP00000347426:H210Y	ENSP00000345601:H210Y	H	+	1	0	FAS	90761795	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.114000	0.03293	-1.065000	0.03168	-0.262000	0.10625	CAT	FAS	-	NULL		0.348	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	FAS	HGNC	protein_coding	OTTHUMT00000049280.2	C			90771815	+1	no_errors	ENST00000355740	ensembl	human	known	70_37	missense	SNP	0.000	T
FAT2	2196	genome.wustl.edu	37	5	150931047	150931047	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:150931047G>A	ENST00000261800.5	-	6	4289	c.4277C>T	c.(4276-4278)tCc>tTc	p.S1426F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1426	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGGTGCGGGACCCATCTGT	0.527																																																	0													156.0	134.0	141.0					5																	150931047		2203	4300	6503	SO:0001583	missense	2196			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4277C>T	5.37:g.150931047G>A	ENSP00000261800:p.Ser1426Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S1426F	ENST00000261800.5	37	c.4277	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	9.534	1.111614	0.20714	.	.	ENSG00000086570	ENST00000261800	T	0.53857	0.6	5.43	1.28	0.21552	Cadherin (4);Cadherin-like (1);	0.467124	0.20478	N	0.091547	T	0.39118	0.1066	L	0.39898	1.24	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.22487	-1.0215	10	0.36615	T	0.2	.	8.4008	0.32586	0.3611:0.0:0.6389:0.0	.	1426	Q9NYQ8	FAT2_HUMAN	F	1426	ENSP00000261800:S1426F	ENSP00000261800:S1426F	S	-	2	0	FAT2	150911240	0.016000	0.18221	0.230000	0.23976	0.990000	0.78478	1.782000	0.38654	-0.066000	0.12998	0.561000	0.74099	TCC	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.527	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	G	NM_001447		150931047	-1	no_errors	ENST00000261800	ensembl	human	known	70_37	missense	SNP	0.002	A
FAT3	120114	genome.wustl.edu	37	11	92615956	92615956	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:92615956T>A	ENST00000298047.6	+	23	12351	c.12334T>A	c.(12334-12336)Tcc>Acc	p.S4112T	FAT3_ENST00000525166.1_Missense_Mutation_p.S3962T|FAT3_ENST00000533797.1_Missense_Mutation_p.S447T|FAT3_ENST00000409404.2_Missense_Mutation_p.S4112T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4112	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACGGAGGCTCCTGCGTGAA	0.632										TCGA Ovarian(4;0.039)																																							0													69.0	92.0	84.0					11																	92615956		2160	4246	6406	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12334T>A	11.37:g.92615956T>A	ENSP00000298047:p.Ser4112Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S4112T	ENST00000298047.6	37	c.12334		11	.	.	.	.	.	.	.	.	.	.	T	8.410	0.843997	0.16963	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	5.37	-2.14	0.07123	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.47801	0.1465	N	0.00260	-1.75	0.38995	D	0.959228	B;B	0.02656	0.0;0.0	B;B	0.09377	0.001;0.004	T	0.38757	-0.9646	9	0.10902	T	0.67	.	13.26	0.60101	0.0983:0.0:0.6695:0.2322	.	4112;4112	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	T	4112;4112;3962;447	ENSP00000298047:S4112T;ENSP00000387040:S4112T;ENSP00000432586:S3962T;ENSP00000436399:S447T	ENSP00000298047:S4112T	S	+	1	0	FAT3	92255604	0.000000	0.05858	0.962000	0.40283	0.987000	0.75469	-1.050000	0.03510	-0.552000	0.06167	0.533000	0.62120	TCC	FAT3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.632	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		T	NM_001008781		92615956	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	0.466	A
FBN2	2201	genome.wustl.edu	37	5	127704923	127704923	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:127704923C>G	ENST00000508053.1	-	22	3174	c.2200G>C	c.(2200-2202)Gac>Cac	p.D734H	Y_RNA_ENST00000384560.1_RNA|FBN2_ENST00000262464.4_Missense_Mutation_p.D734H|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Missense_Mutation_p.D701H			P35556	FBN2_HUMAN	fibrillin 2	734	TB 3.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AAACCATAGTCTGGATTGGCA	0.478																																																	0													147.0	126.0	133.0					5																	127704923		2203	4300	6503	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2200G>C	5.37:g.127704923C>G	ENSP00000424571:p.Asp734His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DU01|Q59ES6	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.D734H	ENST00000508053.1	37	c.2200	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088506	0.76756	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.92699	-3.09;-3.09;-2.74	4.47	4.47	0.54385	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.64402	D	0.000002	D	0.94902	0.8352	L	0.59912	1.85	0.80722	D	1	D;P	0.76494	0.999;0.918	D;P	0.75484	0.986;0.776	D	0.93679	0.6997	10	0.37606	T	0.19	.	18.4469	0.90688	0.0:1.0:0.0:0.0	.	701;734	D6RJI3;P35556	.;FBN2_HUMAN	H	734;734;701	ENSP00000262464:D734H;ENSP00000424571:D734H;ENSP00000425596:D701H	ENSP00000262464:D734H	D	-	1	0	FBN2	127732822	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	4.742000	0.62103	2.768000	0.95171	0.655000	0.94253	GAC	FBN2	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN		0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	C	NM_001999		127704923	-1	no_errors	ENST00000262464	ensembl	human	known	70_37	missense	SNP	1.000	G
FBN3	84467	genome.wustl.edu	37	19	8188852	8188852	+	Silent	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:8188852A>G	ENST00000600128.1	-	23	3186	c.2772T>C	c.(2770-2772)gaT>gaC	p.D924D	FBN3_ENST00000270509.2_Silent_p.D924D|FBN3_ENST00000601739.1_Silent_p.D924D			Q75N90	FBN3_HUMAN	fibrillin 3	924	TB 5.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCCACACTCATCCTCATCCC	0.647																																																	0													119.0	72.0	88.0					19																	8188852		2203	4300	6503	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2772T>C	19.37:g.8188852A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.D924	ENST00000600128.1	37	c.2772	CCDS12196.1	19																																																																																			FBN3	-	superfamily_TB_dom,pirsf_FBN		0.647	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	A	NM_032447		8188852	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	silent	SNP	0.796	G
FBXO38	81545	genome.wustl.edu	37	5	147807033	147807033	+	Missense_Mutation	SNP	G	G	A	rs548894296		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:147807033G>A	ENST00000340253.5	+	15	2344	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	FBXO38_ENST00000394370.3_Missense_Mutation_p.D726N|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	726					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAAGCCCCGACTTTGTAAG	0.557													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18397	0.0		0.0	False		,,,				2504	0.0																0													53.0	46.0	48.0					5																	147807033		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2176G>A	5.37:g.147807033G>A	ENSP00000342023:p.Asp726Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.D726N	ENST00000340253.5	37	c.2176		5	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666960	0.67814	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	T;T	0.35048	1.36;1.33	6.08	6.08	0.98989	.	0.217821	0.48767	D	0.000169	T	0.23649	0.0572	N	0.24115	0.695	0.80722	D	1	P;P	0.46327	0.876;0.456	B;B	0.31016	0.123;0.033	T	0.03566	-1.1024	10	0.33940	T	0.23	-7.8876	19.2272	0.93822	0.0:0.0:1.0:0.0	.	726;726	Q6PIJ6-2;Q6PIJ6	.;FBX38_HUMAN	N	726	ENSP00000342023:D726N;ENSP00000377895:D726N	ENSP00000342023:D726N	D	+	1	0	FBXO38	147787226	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.988000	0.63863	2.894000	0.99253	0.655000	0.94253	GAC	FBXO38	-	NULL		0.557	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	G	NM_030793		147807033	+1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	A
FCGBP	8857	genome.wustl.edu	37	19	40368436	40368436	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:40368436G>A	ENST00000221347.6	-	28	12919	c.12912C>T	c.(12910-12912)ttC>ttT	p.F4304F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4304						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCCTTGAAGAAGCTCT	0.627																																																	0													115.0	113.0	114.0					19																	40368436		2203	4298	6501	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12912C>T	19.37:g.40368436G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.F4304	ENST00000221347.6	37	c.12912	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40368436	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.990	A
FBXO46	23403	genome.wustl.edu	37	19	46216318	46216318	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:46216318C>G	ENST00000317683.3	-	2	569	c.436G>C	c.(436-438)Gac>Cac	p.D146H		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	146										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CCCCCTGGGTCAGGAGGAGCC	0.706																																																	0													8.0	9.0	9.0					19																	46216318		1869	4052	5921	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.436G>C	19.37:g.46216318C>G	ENSP00000410007:p.Asp146His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.D146H	ENST00000317683.3	37	c.436	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	c	9.087	1.000669	0.19121	.	.	ENSG00000177051	ENST00000317683	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	T	0.25419	0.0618	N	0.08118	0	0.19575	N	0.999969	B	0.13145	0.007	B	0.10450	0.005	T	0.15780	-1.0425	8	0.62326	D	0.03	-13.9492	11.6859	0.51485	0.0:1.0:0.0:0.0	.	146	Q6PJ61	FBX46_HUMAN	H	146	.	ENSP00000410007:D146H	D	-	1	0	FBXO46	50908158	0.084000	0.21492	0.885000	0.34714	0.072000	0.16883	0.977000	0.29475	2.202000	0.70862	0.558000	0.71614	GAC	FBXO46	-	NULL		0.706	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	C	XM_371179		46216318	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	0.530	G
RP5-998N21.4	0	genome.wustl.edu	37	1	149369355	149369355	+	lincRNA	SNP	G	G	C	rs587759247		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:149369355G>C	ENST00000415338.1	-	0	7080				FCGR1C_ENST00000453173.1_RNA|HIST2H2BB_ENST00000609585.1_RNA																							TGTGGTTCTTGACAACTCTGC	0.473																																																	0																																												100132417																															1.37:g.149369355G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000415338.1	37	NULL		1																																																																																			FCGR1C	-	-		0.473	RP5-998N21.4-001	KNOWN	basic	lincRNA	FCGR1C	HGNC	lincRNA	OTTHUMT00000098435.1	G			149369355	+1	no_errors	ENST00000453173	ensembl	human	known	70_37	rna	SNP	0.065	C
FCHSD1	89848	genome.wustl.edu	37	5	141024446	141024446	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:141024446C>T	ENST00000435817.2	-	15	1554	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	FCHSD1_ENST00000522783.1_Missense_Mutation_p.D428N|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	502	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTCAGCATCTCCCTCCTCT	0.597																																																	0													53.0	61.0	58.0					5																	141024446		2101	4226	6327	SO:0001583	missense	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1504G>A	5.37:g.141024446C>T	ENSP00000399259:p.Asp502Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.D502N	ENST00000435817.2	37	c.1504	CCDS47295.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.295923	0.95574	.	.	ENSG00000197948	ENST00000435817;ENST00000522783;ENST00000518499	T;T;T	0.50001	0.76;0.76;0.76	5.54	5.54	0.83059	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.995;1.0	T	0.70883	-0.4751	10	0.72032	D	0.01	-12.83	19.0711	0.93136	0.0:1.0:0.0:0.0	.	182;502	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	N	502;428;185	ENSP00000399259:D502N;ENSP00000428677:D428N;ENSP00000430448:D185N	ENSP00000399259:D502N	D	-	1	0	FCHSD1	141004630	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.955000	0.76007	2.618000	0.88619	0.462000	0.41574	GAT	FCHSD1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.597	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	HGNC	protein_coding	OTTHUMT00000375282.2	C	NM_033449		141024446	-1	no_errors	ENST00000435817	ensembl	human	known	70_37	missense	SNP	1.000	T
FGA	2243	genome.wustl.edu	37	4	155505365	155505365	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:155505365C>G	ENST00000302053.3	-	6	2590	c.2512G>C	c.(2512-2514)Gag>Cag	p.E838Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	838	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACTCCATTCTCAATCTCATAA	0.488																																					NSCLC(143;340 1922 20892 22370 48145)												0													110.0	116.0	114.0					4																	155505365		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2512G>C	4.37:g.155505365C>G	ENSP00000306361:p.Glu838Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E838Q	ENST00000302053.3	37	c.2512	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	15.68	2.903870	0.52333	.	.	ENSG00000171560	ENST00000302053	T	0.78707	-1.2	5.47	5.47	0.80525	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.32430	U	0.006117	T	0.74291	0.3697	L	0.33710	1.025	0.80722	D	1	B	0.16396	0.017	B	0.31245	0.126	T	0.69150	-0.5221	10	0.46703	T	0.11	.	19.3412	0.94342	0.0:1.0:0.0:0.0	.	838	P02671	FIBA_HUMAN	Q	838	ENSP00000306361:E838Q	ENSP00000306361:E838Q	E	-	1	0	FGA	155724815	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.337000	0.79256	2.586000	0.87340	0.555000	0.69702	GAG	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.488	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505365	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	1.000	G
FGD2	221472	genome.wustl.edu	37	6	36993679	36993679	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:36993679G>C	ENST00000274963.8	+	14	1741	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	524					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|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)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TGTGCTGCCTGAGGCCAAGGA	0.617																																																	0													109.0	82.0	91.0					6																	36993679		2203	4300	6503	SO:0001583	missense	221472			AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1570G>C	6.37:g.36993679G>C	ENSP00000274963:p.Glu524Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E524Q	ENST00000274963.8	37	c.1570	CCDS4829.1	6	.	.	.	.	.	.	.	.	.	.	G	7.729	0.698877	0.15106	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.59638	0.25	5.2	4.32	0.51571	.	0.365823	0.19673	N	0.108687	T	0.40067	0.1102	L	0.52364	1.645	0.26917	N	0.966757	B;B	0.30793	0.014;0.295	B;B	0.40410	0.007;0.328	T	0.43893	-0.9363	10	0.15499	T	0.54	-13.0115	15.9543	0.79871	0.0:0.1351:0.8649:0.0	.	524;101	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	Q	524;152	ENSP00000274963:E524Q	ENSP00000274963:E524Q	E	+	1	0	FGD2	37101657	0.785000	0.28726	0.148000	0.22405	0.079000	0.17450	1.726000	0.38085	1.305000	0.44909	0.563000	0.77884	GAG	FGD2	-	NULL		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD2	HGNC	protein_coding	OTTHUMT00000040398.2	G	NM_173558		36993679	+1	no_errors	ENST00000274963	ensembl	human	known	70_37	missense	SNP	0.979	C
FGD3	89846	genome.wustl.edu	37	9	95776211	95776211	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:95776211G>C	ENST00000375482.3	+	9	1609	c.1113G>C	c.(1111-1113)ctG>ctC	p.L371L	FGD3_ENST00000538555.1_5'Flank|FGD3_ENST00000337352.6_Silent_p.L371L|FGD3_ENST00000416701.2_Silent_p.L371L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	371	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCAATGAACTGATCAAGGAGG	0.592																																																	0													140.0	149.0	146.0					9																	95776211		2005	4175	6180	SO:0001819	synonymous_variant	89846			AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1113G>C	9.37:g.95776211G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L371	ENST00000375482.3	37	c.1113	CCDS43849.1	9																																																																																			FGD3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.592	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGD3	HGNC	protein_coding	OTTHUMT00000055493.1	G	NM_033086		95776211	+1	no_errors	ENST00000337352	ensembl	human	known	70_37	silent	SNP	1.000	C
FGF12	2257	genome.wustl.edu	37	3	191888293	191888293	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:191888293C>T	ENST00000454309.2	-	4	1392	c.567G>A	c.(565-567)gtG>gtA	p.V189V	FGF12_ENST00000445105.2_Silent_p.V127V|FGF12_ENST00000450716.1_Silent_p.V127V|FGF12_ENST00000264730.3_Silent_p.V127V|FGF12_ENST00000430714.1_Silent_p.V90V	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	189					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TGGTTTTCTTCACTCTGTTCC	0.428																																																	0													204.0	204.0	204.0					3																	191888293		2203	4300	6503	SO:0001819	synonymous_variant	2257			U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.567G>A	3.37:g.191888293C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd	p.V189	ENST00000454309.2	37	c.567	CCDS3301.1	3																																																																																			FGF12	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF		0.428	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF12	HGNC	protein_coding	OTTHUMT00000343160.1	C	NM_021032		191888293	-1	no_errors	ENST00000454309	ensembl	human	known	70_37	silent	SNP	1.000	T
FGFR3	2261	genome.wustl.edu	37	4	1803224	1803224	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:1803224C>T	ENST00000260795.2	+	4	678	c.576C>T	c.(574-576)ggC>ggT	p.G192G	FGFR3_ENST00000440486.2_Silent_p.G192G|FGFR3_ENST00000412135.2_Silent_p.G192G|FGFR3_ENST00000481110.2_Silent_p.G192G|FGFR3_ENST00000340107.4_Silent_p.G192G|FGFR3_ENST00000352904.1_Silent_p.G192G			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	192	Ig-like C2-type 2.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	TGAAGAACGGCAGGGAGTTCC	0.701		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																															Dom	yes		4	4p16.3	2261	fibroblast growth factor receptor 3	yes	"""L, E"""	0													8.0	7.0	7.0					4																	1803224		2140	4201	6341	SO:0001819	synonymous_variant	2261	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.576C>T	4.37:g.1803224C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G192	ENST00000260795.2	37	c.576	CCDS3353.1	4																																																																																			FGFR3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like		0.701	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FGFR3	HGNC	protein_coding	OTTHUMT00000241632.2	C	NM_000142		1803224	+1	no_errors	ENST00000340107	ensembl	human	known	70_37	silent	SNP	1.000	T
FHOD1	29109	genome.wustl.edu	37	16	67263777	67263777	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:67263777G>C	ENST00000258201.4	-	21	3578	c.3331C>G	c.(3331-3333)Ctg>Gtg	p.L1111V	LRRC29_ENST00000409509.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000462169.1_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1111	DAD.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACTGCACCAGAAGGTCCATG	0.567																																																	0													81.0	82.0	82.0					16																	67263777		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3331C>G	16.37:g.67263777G>C	ENSP00000258201:p.Leu1111Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L1111V	ENST00000258201.4	37	c.3331	CCDS10834.1	16	.	.	.	.	.	.	.	.	.	.	G	15.21	2.766543	0.49574	.	.	ENSG00000135723	ENST00000258201	T	0.43294	0.95	5.46	2.38	0.29361	.	0.000000	0.64402	D	0.000001	T	0.58323	0.2114	M	0.84326	2.69	0.80722	D	1	D	0.61080	0.989	P	0.60682	0.878	T	0.60949	-0.7161	10	0.87932	D	0	.	7.5061	0.27545	0.1468:0.0:0.7184:0.1348	.	1111	Q9Y613	FHOD1_HUMAN	V	1111	ENSP00000258201:L1111V	ENSP00000258201:L1111V	L	-	1	2	FHOD1	65821278	0.984000	0.35163	1.000000	0.80357	0.956000	0.61745	1.923000	0.40055	0.859000	0.35456	-0.181000	0.13052	CTG	FHOD1	-	NULL		0.567	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	G			67263777	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	missense	SNP	0.955	C
FIG4	9896	genome.wustl.edu	37	6	110087939	110087939	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:110087939G>C	ENST00000230124.3	+	15	1715	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q	FIG4_ENST00000441478.2_Missense_Mutation_p.E254Q	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	531	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TAGGTTATTTGAGGAACTCTA	0.358																																																	0													140.0	131.0	134.0					6																	110087939		2203	4300	6503	SO:0001583	missense	9896			D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.1591G>C	6.37:g.110087939G>C	ENSP00000230124:p.Glu531Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53H49|Q5TCS6	Missense_Mutation	SNP	pfam_Syja_N,pfscan_Syja_N	p.E531Q	ENST00000230124.3	37	c.1591	CCDS5078.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.881203|4.881203	0.91740|0.91740	.|.	.|.	ENSG00000112367|ENSG00000112367	ENST00000441478;ENST00000230124|ENST00000415980	T;T|.	0.52754|.	1.9;0.65|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Synaptojanin, N-terminal (1);|.	0.053145|.	0.64402|.	D|.	0.000001|.	T|.	0.56514|.	0.1990|.	L|L	0.37466|0.37466	1.105|1.105	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.87578|.	0.996;0.998|.	T|.	0.52764|.	-0.8532|.	10|.	0.35671|.	T|.	0.21|.	-26.7577|-26.7577	19.4415|19.4415	0.94823|0.94823	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	254;531|.	F5H8L9;Q92562|.	.;FIG4_HUMAN|.	Q|S	254;531|3	ENSP00000399443:E254Q;ENSP00000230124:E531Q|.	ENSP00000230124:E531Q|.	E|X	+|+	1|2	0|2	FIG4|FIG4	110194632|110194632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.320000|9.320000	0.96346|0.96346	2.596000|2.596000	0.87737|0.87737	0.555000|0.555000	0.69702|0.69702	GAG|TGA	FIG4	-	pfscan_Syja_N		0.358	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIG4	HGNC	protein_coding	OTTHUMT00000041768.1	G	NM_014845		110087939	+1	no_errors	ENST00000230124	ensembl	human	known	70_37	missense	SNP	1.000	C
FIGF	2277	genome.wustl.edu	37	X	15376224	15376224	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:15376224G>T	ENST00000297904.3	-	3	822	c.393C>A	c.(391-393)ttC>ttA	p.F131L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	131					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)	p.F131L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GGGGCTTGAAGAATGTGTTGG	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											274.0	219.0	238.0					X																	15376224		2203	4300	6503	SO:0001583	missense	2277			AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.393C>A	X.37:g.15376224G>T	ENSP00000297904:p.Phe131Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7Z3	Missense_Mutation	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.F131L	ENST00000297904.3	37	c.393	CCDS14166.1	X	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909213	0.72868	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.11	4.24	0.50183	Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	L	0.43646	1.37	0.46437	D	0.999044	D	0.76494	0.999	D	0.83275	0.996	T	0.63825	-0.6549	9	0.48119	T	0.1	-37.2445	8.2732	0.31857	0.261:0.0:0.739:0.0	.	131	O43915	VEGFD_HUMAN	L	131	.	ENSP00000297904:F131L	F	-	3	2	FIGF	15286145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.090000	0.50191	1.057000	0.40506	0.529000	0.55759	TTC	FIGF	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.498	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGF	HGNC	protein_coding	OTTHUMT00000055859.1	G	NM_004469		15376224	-1	no_errors	ENST00000297904	ensembl	human	known	70_37	missense	SNP	1.000	T
FKBP15	23307	genome.wustl.edu	37	9	115947059	115947059	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:115947059G>C	ENST00000238256.3	-	16	1641	c.1524C>G	c.(1522-1524)ctC>ctG	p.L508L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	508					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CTTCAGTCATGAGAAATGAAG	0.413																																																	0													47.0	42.0	43.0					9																	115947059		1973	4172	6145	SO:0001819	synonymous_variant	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.1524C>G	9.37:g.115947059G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom	p.L508	ENST00000238256.3	37	c.1524	CCDS48007.1	9																																																																																			FKBP15	-	NULL		0.413	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP15	HGNC	protein_coding		G	NM_015258		115947059	-1	no_errors	ENST00000238256	ensembl	human	known	70_37	silent	SNP	1.000	C
FLG	2312	genome.wustl.edu	37	1	152284387	152284387	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152284387C>T	ENST00000368799.1	-	3	3010	c.2975G>A	c.(2974-2976)aGa>aAa	p.R992K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	992	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCGGCTCTGTCTTCGTG	0.577									Ichthyosis																																								0													237.0	240.0	239.0					1																	152284387		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2975G>A	1.37:g.152284387C>T	ENSP00000357789:p.Arg992Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R992K	ENST00000368799.1	37	c.2975	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	c	4.574	0.106684	0.08780	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03920	3.76	0.698	-0.895	0.10560	.	.	.	.	.	T	0.01222	0.0040	M	0.68317	2.08	0.09310	N	1	B	0.17667	0.023	B	0.08055	0.003	T	0.50250	-0.8850	8	0.06099	T	0.92	.	.	.	.	.	992	P20930	FILA_HUMAN	K	992;199	ENSP00000357789:R992K	ENSP00000357789:R992K	R	-	2	0	FLG	150551011	0.000000	0.05858	0.001000	0.08648	0.061000	0.15899	-0.804000	0.04535	-0.258000	0.09446	0.291000	0.19559	AGA	FLG	-	NULL		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152284387	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.001	T
LINC00905	148231	genome.wustl.edu	37	19	16146459	16146459	+	RNA	SNP	G	G	A	rs541326754		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:16146459G>A	ENST00000588117.2	+	0	887					NR_024335.1|NR_024336.1				long intergenic non-protein coding RNA 905																		GCATGGAGACGACTGGGAACT	0.577																																																	0																																												148231			BC031284, BC069223, DB461577		19p13.12	2013-05-21			ENSG00000167459	ENSG00000167459		"""Long non-coding RNAs"""	26334	non-coding RNA	RNA, long non-coding							Standard	NR_110321		Approved	FLJ25328			OTTHUMG00000182270		19.37:g.16146459G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000588117.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219020	0.22373	.	.	ENSG00000167459	ENST00000397365	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	T	0.43765	0.1262	.	.	.	.	.	.	.	.	.	.	.	.	T	0.52638	-0.8549	4	0.87932	D	0	.	3.8765	0.09059	1.0E-4:0.4738:0.5259:1.0E-4	.	.	.	.	Q	167	.	ENSP00000380522:R167Q	R	+	2	0	AC004790.1	16007459	1.000000	0.71417	0.023000	0.16930	0.023000	0.10783	0.633000	0.24598	0.308000	0.22923	0.313000	0.20887	CGA	AC114273.1	-	-		0.577	LINC00905-001	KNOWN	basic	lincRNA	FLJ25328	Clone_based_vega_gene	processed_transcript	OTTHUMT00000460313.2	G	NR_024335		16146459	+1	no_errors	ENST00000397365	ensembl	human	known	70_37	rna	SNP	1.000	A
FLNA	2316	genome.wustl.edu	37	X	153581031	153581031	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153581031G>T	ENST00000369850.3	-	40	6628	c.6392C>A	c.(6391-6393)tCt>tAt	p.S2131Y	FLNA_ENST00000422373.1_Missense_Mutation_p.S2123Y|FLNA_ENST00000360319.4_Missense_Mutation_p.S2123Y|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.S2091Y|FLNA_ENST00000369856.3_Missense_Mutation_p.S264Y	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2131					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTTCACAGAGAAGGGGCT	0.637																																																	0													37.0	38.0	37.0					X																	153581031		1980	4138	6118	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6392C>A	X.37:g.153581031G>T	ENSP00000358866:p.Ser2131Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S2131Y	ENST00000369850.3	37	c.6392	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	16.82	3.229774	0.58777	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95	5.64	5.64	0.86602	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.070853	0.56097	D	0.000025	D	0.93625	0.7964	L	0.49778	1.585	0.52501	D	0.999956	D;D;B;B	0.61697	0.986;0.99;0.142;0.142	P;P;B;B	0.57846	0.789;0.828;0.034;0.034	D	0.94235	0.7480	10	0.87932	D	0	.	15.8523	0.78943	0.0:0.1319:0.8681:0.0	.	264;2123;2131;2131	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	Y	2123;2123;2131;264;2091	ENSP00000353467:S2123Y;ENSP00000416926:S2123Y;ENSP00000358866:S2131Y;ENSP00000358872:S264Y;ENSP00000358863:S2091Y	ENSP00000358863:S2091Y	S	-	2	0	FLNA	153234225	1.000000	0.71417	0.976000	0.42696	0.788000	0.44548	6.737000	0.74816	2.372000	0.80975	0.513000	0.50165	TCT	FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153581031	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	T
FLNA	2316	genome.wustl.edu	37	X	153582057	153582057	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153582057C>G	ENST00000369850.3	-	36	5961	c.5725G>C	c.(5725-5727)Gaa>Caa	p.E1909Q	FLNA_ENST00000422373.1_Missense_Mutation_p.E1901Q|FLNA_ENST00000360319.4_Missense_Mutation_p.E1901Q|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.E1869Q|FLNA_ENST00000369856.3_Intron	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1909					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCTGATTTCTGCTTTGGAC	0.582											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													50.0	50.0	50.0					X																	153582057		2194	4297	6491	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5725G>C	X.37:g.153582057C>G	ENSP00000358866:p.Glu1909Gln	Somatic	1756	WXS	Illumina HiSeq	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.E1909Q	ENST00000369850.3	37	c.5725	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439931	0.83885	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.3	5.3	0.74995	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.136231	0.46442	D	0.000300	D	0.95639	0.8582	M	0.75777	2.31	0.58432	D	0.999999	P;B	0.38020	0.615;0.012	P;B	0.55824	0.785;0.173	D	0.95953	0.8956	10	0.87932	D	0	.	18.0888	0.89468	0.0:1.0:0.0:0.0	.	1901;1909	P21333-2;P21333	.;FLNA_HUMAN	Q	1901;1882;1901;1909;1869	ENSP00000353467:E1901Q;ENSP00000416926:E1901Q;ENSP00000358866:E1909Q;ENSP00000358863:E1869Q	ENSP00000358863:E1869Q	E	-	1	0	FLNA	153235251	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	7.779000	0.85648	2.207000	0.71202	0.436000	0.28706	GAA	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.582	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	C			153582057	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	G
FLNB	2317	genome.wustl.edu	37	3	58109341	58109341	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:58109341C>T	ENST00000295956.4	+	21	3813	c.3648C>T	c.(3646-3648)ttC>ttT	p.F1216F	FLNB_ENST00000429972.2_Silent_p.F1216F|FLNB_ENST00000419752.2_Silent_p.F1047F|FLNB_ENST00000493452.1_Silent_p.F1047F|FLNB_ENST00000490882.1_Silent_p.F1216F|FLNB_ENST00000357272.4_Silent_p.F1216F|FLNB_ENST00000358537.3_Silent_p.F1216F|FLNB_ENST00000348383.5_Silent_p.F1216F	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1216	Interaction with FBLP1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGCCACACTTCCCCGCCCGGG	0.537																																																	0													38.0	39.0	38.0					3																	58109341		2200	4296	6496	SO:0001819	synonymous_variant	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.3648C>T	3.37:g.58109341C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.F1216	ENST00000295956.4	37	c.3648	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.537	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	C	NM_001457		58109341	+1	no_errors	ENST00000295956	ensembl	human	known	70_37	silent	SNP	1.000	T
FLT1	2321	genome.wustl.edu	37	13	28895716	28895716	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:28895716G>A	ENST00000282397.4	-	23	3309	c.3058C>T	c.(3058-3060)Cat>Tat	p.H1020Y	FLT1_ENST00000540678.1_Missense_Mutation_p.H238Y|FLT1_ENST00000543394.1_Missense_Mutation_p.H43Y	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1020	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGTCCCGATGAATGCACTAT	0.388																																																	0													108.0	95.0	100.0					13																	28895716		2203	4300	6503	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3058C>T	13.37:g.28895716G>A	ENSP00000282397:p.His1020Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.H1020Y	ENST00000282397.4	37	c.3058	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943121	0.92526	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.96992	-4.2;-4.2;-4.2	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98305	0.9438	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98766	1.0726	10	0.87932	D	0	.	20.1379	0.98040	0.0:0.0:1.0:0.0	.	1020	P17948	VGFR1_HUMAN	Y	1020;43;238	ENSP00000282397:H1020Y;ENSP00000437841:H43Y;ENSP00000443311:H238Y	ENSP00000282397:H1020Y	H	-	1	0	FLT1	27793716	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.823000	0.99369	2.779000	0.95612	0.655000	0.94253	CAT	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	G			28895716	-1	no_errors	ENST00000282397	ensembl	human	known	70_37	missense	SNP	1.000	A
FMNL1	752	genome.wustl.edu	37	17	43320550	43320550	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:43320550C>T	ENST00000331495.3	+	17	2412	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000587489.1_Silent_p.L270L|FMNL1_ENST00000328118.3_Silent_p.L692L|CTD-2020K17.4_ENST00000420431.2_RNA|CTD-2020K17.3_ENST00000393507.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	692	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCCTGGACCTCAGCGCTCTCA	0.597																																					GBM(164;1247 1997 8702 11086 51972)												0													89.0	95.0	93.0					17																	43320550		2203	4300	6503	SO:0001819	synonymous_variant	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2076C>T	17.37:g.43320550C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L692	ENST00000331495.3	37	c.2076	CCDS11497.1	17																																																																																			FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.597	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	C	NM_005892		43320550	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	silent	SNP	0.000	T
FMNL3	91010	genome.wustl.edu	37	12	50047597	50047597	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:50047597C>T	ENST00000293590.5	-	12	1365	c.1132G>A	c.(1132-1134)Gtg>Atg	p.V378M	FMNL3_ENST00000352151.5_Missense_Mutation_p.V327M|FMNL3_ENST00000335154.5_Missense_Mutation_p.V378M|FMNL3_ENST00000550488.1_Missense_Mutation_p.V378M			Q8IVF7	FMNL3_HUMAN	formin-like 3	378	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.V378M(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACATCAAACACGTTGTCCAGA	0.532																																																	1	Substitution - Missense(1)	ovary(1)											177.0	178.0	178.0					12																	50047597		2022	4183	6205	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1132G>A	12.37:g.50047597C>T	ENSP00000293590:p.Val378Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.V378M	ENST00000293590.5	37	c.1132		12	.	.	.	.	.	.	.	.	.	.	C	20.5	4.009247	0.75046	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	L	0.58354	1.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.85660	0.1288	10	0.25751	T	0.34	.	19.3176	0.94223	0.0:1.0:0.0:0.0	.	327;378	Q8IVF7-2;Q8IVF7-3	.;.	M	378;378;327;378	ENSP00000335655:V378M;ENSP00000447479:V378M;ENSP00000344311:V327M;ENSP00000293590:V378M	ENSP00000293590:V378M	V	-	1	0	FMNL3	48333864	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GTG	FMNL3	-	pfam_Drf_FH3,superfamily_ARM-type_fold		0.532	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		C	NM_175736		50047597	-1	no_errors	ENST00000293590	ensembl	human	known	70_37	missense	SNP	1.000	T
FMO2	2327	genome.wustl.edu	37	1	171165874	171165874	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:171165874G>A	ENST00000209929.7	+	4	566	c.408G>A	c.(406-408)caG>caA	p.Q136Q	RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Silent_p.Q136Q|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	136					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGAGCAGAGTGCTGTCT	0.493																																																	0													162.0	136.0	145.0					1																	171165874		2203	4300	6503	SO:0001819	synonymous_variant	2327			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.408G>A	1.37:g.171165874G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XR0	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.Q136	ENST00000209929.7	37	c.408	CCDS1293.1	1																																																																																			FMO2	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase		0.493	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	HGNC	protein_coding	OTTHUMT00000086216.2	G	NM_001460		171165874	+1	no_errors	ENST00000209929	ensembl	human	known	70_37	silent	SNP	0.000	A
FMR1	2332	genome.wustl.edu	37	X	147011666	147011666	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:147011666C>G	ENST00000370475.4	+	7	661	c.533C>G	c.(532-534)tCa>tGa	p.S178*	FMR1_ENST00000334557.6_Nonsense_Mutation_p.S178*|FMR1_ENST00000218200.8_Nonsense_Mutation_p.S178*|FMR1_ENST00000440235.2_5'Flank|FMR1_ENST00000370471.3_Nonsense_Mutation_p.S178*|FMR1_ENST00000439526.2_Nonsense_Mutation_p.S178*|FMR1_ENST00000370470.1_Nonsense_Mutation_p.S178*|FMR1_ENST00000370477.1_Nonsense_Mutation_p.S178*	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	178					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGTCACCTCAAAGCGAGCA	0.363									Fragile X syndrome																																								0													129.0	108.0	115.0					X																	147011666		2203	4300	6503	SO:0001587	stop_gained	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.533C>G	X.37:g.147011666C>G	ENSP00000359506:p.Ser178*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Nonsense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.S178*	ENST00000370475.4	37	c.533	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.632615	0.97722	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	.	.	.	4.92	4.92	0.64577	.	0.662303	0.15597	N	0.254089	.	.	.	.	.	.	0.19300	N	0.999973	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-45.6439	10.1933	0.43039	0.0:0.9057:0.0:0.0943	.	.	.	.	X	178	.	ENSP00000218200:S178X	S	+	2	0	FMR1	146819358	0.972000	0.33761	0.981000	0.43875	0.986000	0.74619	3.258000	0.51507	2.168000	0.68352	0.529000	0.55759	TCA	FMR1	-	NULL		0.363	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	C	NM_002024		147011666	+1	no_errors	ENST00000370475	ensembl	human	known	70_37	nonsense	SNP	0.018	G
FN3K	64122	genome.wustl.edu	37	17	80706805	80706805	+	Silent	SNP	G	G	A	rs532087945		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:80706805G>A	ENST00000300784.7	+	5	605	c.543G>A	c.(541-543)gaG>gaA	p.E181E		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	181					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ACCTCATTGAGAAGGACTATG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17212	0.0		0.0	False		,,,				2504	0.0				Melanoma(10;391 597 14592 32548 32749)												0													61.0	57.0	58.0					17																	80706805		2203	4300	6503	SO:0001819	synonymous_variant	64122			AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.543G>A	17.37:g.80706805G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.E181	ENST00000300784.7	37	c.543	CCDS11818.1	17																																																																																			FN3K	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase		0.597	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3K	HGNC	protein_coding	OTTHUMT00000439229.1	G	NM_022158		80706805	+1	no_errors	ENST00000300784	ensembl	human	known	70_37	silent	SNP	1.000	A
FNDC3B	64778	genome.wustl.edu	37	3	172016570	172016570	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:172016570C>T	ENST00000336824.4	+	9	1153	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	FNDC3B_ENST00000415807.2_Missense_Mutation_p.H352Y|FNDC3B_ENST00000416957.1_Missense_Mutation_p.H352Y	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	352	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AACAGATTATCATGTGAGGTG	0.363																																																	0													118.0	122.0	121.0					3																	172016570		2203	4300	6503	SO:0001583	missense	64778			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1054C>T	3.37:g.172016570C>T	ENSP00000338523:p.His352Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.H352Y	ENST00000336824.4	37	c.1054	CCDS3217.1	3	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000090	0.54147	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56941	0.43;0.43;0.43	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.75447	2.3	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.19148	0.013;0.024	T	0.48163	-0.9059	10	0.30854	T	0.27	-19.9125	14.1106	0.65120	0.0:0.928:0.0:0.072	.	352;352	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	Y	352	ENSP00000411242:H352Y;ENSP00000338523:H352Y;ENSP00000389094:H352Y	ENSP00000338523:H352Y	H	+	1	0	FNDC3B	173499264	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	5.300000	0.65721	2.793000	0.96121	0.655000	0.94253	CAT	FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.363	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2	C	NM_022763		172016570	+1	no_errors	ENST00000336824	ensembl	human	known	70_37	missense	SNP	1.000	T
FNIP2	57600	genome.wustl.edu	37	4	159789475	159789475	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:159789475G>C	ENST00000264433.6	+	13	1762	c.1687G>C	c.(1687-1689)Gag>Cag	p.E563Q	FNIP2_ENST00000379346.3_Missense_Mutation_p.E586Q	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	563	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGGAGAGGTGGAGGAGTCTGA	0.532																																																	0													84.0	89.0	88.0					4																	159789475		2112	4240	6352	SO:0001583	missense	57600			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1687G>C	4.37:g.159789475G>C	ENSP00000264433:p.Glu563Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	NULL	p.E586Q	ENST00000264433.6	37	c.1756	CCDS47155.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.352297	0.95830	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346	T;T;T	0.36340	1.29;1.41;1.26	5.84	5.84	0.93424	.	.	.	.	.	T	0.65281	0.2676	M	0.81942	2.565	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.64651	-0.6357	8	.	.	.	.	20.1994	0.98256	0.0:0.0:1.0:0.0	.	563	Q9P278	FNIP2_HUMAN	Q	563;586;586	ENSP00000264433:E563Q;ENSP00000421488:E586Q;ENSP00000368651:E586Q	.	E	+	1	0	FNIP2	160008925	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.745000	0.98856	2.776000	0.95493	0.650000	0.86243	GAG	FNIP2	-	NULL		0.532	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	HGNC	protein_coding	OTTHUMT00000366602.1	G	NM_020840		159789475	+1	no_errors	ENST00000379346	ensembl	human	known	70_37	missense	SNP	1.000	C
FOCAD	54914	genome.wustl.edu	37	9	20770100	20770100	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:20770100C>T	ENST00000380249.1	+	10	1133	c.769C>T	c.(769-771)Cat>Tat	p.H257Y	FOCAD_ENST00000338382.6_Missense_Mutation_p.H257Y	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	257						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CCTTTTGCGTCATCCTGTTTT	0.353																																																	0													173.0	180.0	178.0					9																	20770100		2203	4300	6503	SO:0001583	missense	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.769C>T	9.37:g.20770100C>T	ENSP00000369599:p.His257Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.H257Y	ENST00000380249.1	37	c.769	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599359	0.28534	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.06768	3.26;3.26	5.57	3.74	0.42951	.	0.549745	0.20667	N	0.087911	T	0.06050	0.0157	N	0.20986	0.625	0.36349	D	0.859979	B	0.02656	0.0	B	0.04013	0.001	T	0.27191	-1.0081	10	0.36615	T	0.2	-5.1394	8.8276	0.35065	0.0:0.7184:0.0:0.2816	.	257	Q5VW36	K1797_HUMAN	Y	257	ENSP00000369599:H257Y;ENSP00000344307:H257Y	ENSP00000344307:H257Y	H	+	1	0	KIAA1797	20760100	0.850000	0.29656	0.997000	0.53966	0.982000	0.71751	1.162000	0.31786	0.716000	0.32124	0.561000	0.74099	CAT	FOCAD	-	NULL		0.353	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	C	NM_017794		20770100	+1	no_errors	ENST00000338382	ensembl	human	known	70_37	missense	SNP	0.977	T
FOXF1	2294	genome.wustl.edu	37	16	86546673	86546673	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:86546673C>G	ENST00000262426.4	+	2	1165	c.1122C>G	c.(1120-1122)atC>atG	p.I374M		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	374					blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCAAGACATCAAGCCTTGCG	0.607																																																	0													41.0	41.0	41.0					16																	86546673		2198	4300	6498	SO:0001583	missense	2294			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.1122C>G	16.37:g.86546673C>G	ENSP00000262426:p.Ile374Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAF4|Q5FWE5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.I374M	ENST00000262426.4	37	c.1122	CCDS10957.2	16	.	.	.	.	.	.	.	.	.	.	C	31	5.081460	0.94050	.	.	ENSG00000103241	ENST00000262426	D	0.97256	-4.31	5.14	5.14	0.70334	.	0.079394	0.52532	D	0.000073	D	0.97636	0.9225	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	D	0.65773	0.938	D	0.98588	1.0653	10	0.87932	D	0	.	17.9469	0.89042	0.0:1.0:0.0:0.0	.	374	Q12946	FOXF1_HUMAN	M	374	ENSP00000262426:I374M	ENSP00000262426:I374M	I	+	3	3	FOXF1	85104174	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.691000	0.47010	2.533000	0.85409	0.655000	0.94253	ATC	FOXF1	-	NULL		0.607	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FOXF1	HGNC	protein_coding	OTTHUMT00000269103.2	C	NM_001451		86546673	+1	no_errors	ENST00000262426	ensembl	human	known	70_37	missense	SNP	1.000	G
FOXI3	344167	genome.wustl.edu	37	2	88747930	88747930	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:88747930G>C	ENST00000398142.3	-	0	1135							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						AGGTCGGGGAGAACACGCCGC	0.617																																					Pancreas(81;472 1448 16397 17495 22123)												0													54.0	53.0	54.0					2																	88747930		692	1591	2283			344167			BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88747930G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B5RI09	RNA	SNP	-	NULL	ENST00000398142.3	37	NULL		2																																																																																			FOXI3	-	-		0.617	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	FOXI3	HGNC	processed_transcript	OTTHUMT00000338241.2	G	NM_001135649		88747930	-1	no_errors	ENST00000398142	ensembl	human	known	70_37	rna	SNP	0.001	C
FOXP1	27086	genome.wustl.edu	37	3	71037200	71037200	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:71037200G>A	ENST00000318789.4	-	14	1616	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	FOXP1_ENST00000468577.1_Missense_Mutation_p.A364V|FOXP1_ENST00000484350.1_Missense_Mutation_p.A288V|FOXP1_ENST00000475937.1_Missense_Mutation_p.A364V|FOXP1_ENST00000498215.1_Missense_Mutation_p.A364V|FOXP1_ENST00000491238.1_Missense_Mutation_p.A366V|FOXP1_ENST00000493089.1_Missense_Mutation_p.A364V	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	364	Leucine-zipper.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGTCATCATGGCTTGCAGGCG	0.438			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													188.0	194.0	192.0					3																	71037200		2203	4300	6503	SO:0001583	missense	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1091C>T	3.37:g.71037200G>A	ENSP00000318902:p.Ala364Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A364V	ENST00000318789.4	37	c.1091	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.403976	0.96051	.	.	ENSG00000114861	ENST00000318789;ENST00000358280;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.83118	2.625	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.942;0.998;0.999;0.997	D;P;D;D;D	0.75484	0.967;0.543;0.986;0.959;0.926	T	0.76124	-0.3074	10	0.87932	D	0	.	20.1306	0.97998	0.0:0.0:1.0:0.0	.	364;363;364;288;364	B3KV70;A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;.;FOXP1_HUMAN	V	364;176;264;364;364;260;366;364;364;288;364	ENSP00000318902:A364V;ENSP00000419393:A364V;ENSP00000418225:A260V;ENSP00000420736:A366V;ENSP00000418524:A364V;ENSP00000418102:A364V;ENSP00000417857:A288V;ENSP00000418883:A364V	ENSP00000318902:A364V	A	-	2	0	FOXP1	71119890	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.751000	0.94390	0.655000	0.94253	GCC	FOXP1	-	NULL		0.438	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	G	NM_032682		71037200	-1	no_errors	ENST00000318789	ensembl	human	known	70_37	missense	SNP	1.000	A
FPGS	2356	genome.wustl.edu	37	9	130575577	130575577	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:130575577C>G	ENST00000373247.2	+	15	1508	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	FPGS_ENST00000393706.2_Silent_p.L460L|FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000373225.3_Silent_p.L436L|RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000460181.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	486					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GCCCGGACCTCTGGAGTGCCC	0.657																																																	0													41.0	42.0	41.0					9																	130575577		2203	4300	6503	SO:0001819	synonymous_variant	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.1458C>G	9.37:g.130575577C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Silent	SNP	superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.L486	ENST00000373247.2	37	c.1458	CCDS35148.1	9																																																																																			FPGS	-	tigrfam_Folylpolyglutamate_synth		0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1	C			130575577	+1	no_errors	ENST00000373247	ensembl	human	known	70_37	silent	SNP	0.755	G
FREM3	166752	genome.wustl.edu	37	4	144619550	144619550	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:144619550C>T	ENST00000329798.5	-	1	2278	c.2279G>A	c.(2278-2280)gGa>gAa	p.G760E	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	760					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						CACAATTTCTCCAGCCCGGAC	0.498																																																	0													196.0	158.0	170.0					4																	144619550		692	1591	2283	SO:0001583	missense	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.2279G>A	4.37:g.144619550C>T	ENSP00000332886:p.Gly760Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G760E	ENST00000329798.5	37	c.2279	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549944	0.65311	.	.	ENSG00000183090	ENST00000329798	T	0.20069	2.1	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	M	0.85945	2.785	0.80722	D	1	.	.	.	.	.	.	T	0.58148	-0.7687	8	0.87932	D	0	-7.8973	14.7418	0.69461	0.0:1.0:0.0:0.0	.	.	.	.	E	760	ENSP00000332886:G760E	ENSP00000332886:G760E	G	-	2	0	FREM3	144839000	0.999000	0.42202	0.995000	0.50966	0.863000	0.49368	5.279000	0.65597	1.995000	0.58328	0.561000	0.74099	GGA	FREM3	-	NULL		0.498	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	C	XM_094074		144619550	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	missense	SNP	1.000	T
FSTL3	10272	genome.wustl.edu	37	19	681696	681696	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:681696G>C	ENST00000166139.4	+	5	812	c.780G>C	c.(778-780)gaG>gaC	p.E260D	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	260					adrenal gland development (GO:0030325)|cellular response to metal ion (GO:0071248)|hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090101)|ossification (GO:0001503)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|secretory granule (GO:0030141)	activin binding (GO:0048185)|fibronectin binding (GO:0001968)						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AAGAGGAAGAGAACTTCGTGT	0.602			T	CCND1	B-CLL																																			Dom	yes		19	19p13	10272	follistatin-like 3 (secreted glycoprotein)		L	0													14.0	12.0	13.0					19																	681696		2184	4267	6451	SO:0001583	missense	10272			U76702	CCDS12040.1	19p13	2008-07-16				ENSG00000070404			3973	protein-coding gene	gene with protein product	"""follistatin-related protein"""	605343				9671416, 15527507	Standard	NM_005860		Approved	FLRG, FSRP	uc002lpk.1	O95633		ENST00000166139.4:c.780G>C	19.37:g.681696G>C	ENSP00000166139:p.Glu260Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7E3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Prot_inh_Kazal	p.E260D	ENST00000166139.4	37	c.780	CCDS12040.1	19	.	.	.	.	.	.	.	.	.	.	G	9.366	1.069322	0.20147	.	.	ENSG00000070404	ENST00000166139	T	0.18810	2.19	3.68	2.56	0.30785	.	2.406890	0.01873	N	0.037373	T	0.18635	0.0447	L	0.31294	0.92	0.27756	N	0.944001	B	0.06786	0.001	B	0.06405	0.002	T	0.14504	-1.0470	10	0.46703	T	0.11	-25.9794	7.7917	0.29125	0.0:0.0:0.6139:0.3861	.	260	O95633	FSTL3_HUMAN	D	260	ENSP00000166139:E260D	ENSP00000166139:E260D	E	+	3	2	FSTL3	632696	1.000000	0.71417	0.998000	0.56505	0.324000	0.28378	1.179000	0.31993	1.897000	0.54924	0.462000	0.41574	GAG	FSTL3	-	NULL		0.602	FSTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL3	HGNC	protein_coding	OTTHUMT00000452479.1	G	NM_005860		681696	+1	no_errors	ENST00000166139	ensembl	human	known	70_37	missense	SNP	1.000	C
FTCD	10841	genome.wustl.edu	37	21	47571901	47571901	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:47571901G>C	ENST00000291670.5	-	4	411				FTCD_ENST00000397748.1_Intron|FTCD_ENST00000359679.2_Intron|FTCD_ENST00000397746.3_Intron|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000355384.2_Intron|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000498355.2_5'UTR	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase						cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	TAAACTGCAGGAGAGCCCGGC	0.692																																																	0													6.0	8.0	8.0					21																	47571901		2134	4216	6350	SO:0001627	intron_variant	10841			U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.368-7C>G	21.37:g.47571901G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	RNA	SNP	-	NULL	ENST00000291670.5	37	NULL	CCDS13731.1	21																																																																																			FTCD	-	-		0.692	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	HGNC	protein_coding	OTTHUMT00000206962.1	G	NM_006657		47571901	-1	no_errors	ENST00000498355	ensembl	human	known	70_37	rna	SNP	0.021	C
FYCO1	79443	genome.wustl.edu	37	3	46008585	46008585	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46008585G>C	ENST00000296137.2	-	8	2446	c.2241C>G	c.(2239-2241)ctC>ctG	p.L747L	FYCO1_ENST00000535325.1_Silent_p.L747L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	747					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTCTGCTGTGAGGACCTCAA	0.622																																																	0													93.0	93.0	93.0					3																	46008585		2203	4300	6503	SO:0001819	synonymous_variant	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2241C>G	3.37:g.46008585G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.L747	ENST00000296137.2	37	c.2241	CCDS2734.1	3																																																																																			FYCO1	-	NULL		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	G	NM_024513		46008585	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	silent	SNP	0.002	C
FYN	2534	genome.wustl.edu	37	6	111983016	111983016	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:111983016C>T	ENST00000354650.3	-	14	2146	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	FYN_ENST00000368682.3_Missense_Mutation_p.E511K|FYN_ENST00000368678.4_Missense_Mutation_p.E511K|FYN_ENST00000538466.1_Missense_Mutation_p.E511K|FYN_ENST00000368667.2_Missense_Mutation_p.E514K|FYN_ENST00000356013.2_Missense_Mutation_p.E459K|FYN_ENST00000229470.5_Missense_Mutation_p.E462K|FYN_ENST00000229471.4_Missense_Mutation_p.E459K	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	514	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TGCAAGTACTCAAAAGTGGGG	0.572																																																	0													140.0	147.0	145.0					6																	111983016		2203	4300	6503	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.1540G>A	6.37:g.111983016C>T	ENSP00000346671:p.Glu514Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E514K	ENST00000354650.3	37	c.1540	CCDS5094.1	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524562	0.85600	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.81	5.81	0.92471	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82783	0.5112	N	0.13198	0.31	0.80722	D	1	P;P;D	0.89917	0.939;0.942;1.0	P;P;D	0.91635	0.567;0.532;0.999	D	0.86116	0.1565	10	0.72032	D	0.01	.	20.089	0.97809	0.0:1.0:0.0:0.0	.	514;459;511	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	K	511;514;459;514;511;462;459;511;462	ENSP00000357671:E511K;ENSP00000346671:E514K;ENSP00000229471:E459K;ENSP00000357656:E514K;ENSP00000357667:E511K;ENSP00000229470:E462K;ENSP00000348295:E459K;ENSP00000440646:E511K	ENSP00000229470:E462K	E	-	1	0	FYN	112089709	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.797000	0.85911	2.752000	0.94435	0.557000	0.71058	GAG	FYN	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	C			111983016	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	missense	SNP	1.000	T
FZD4	8322	genome.wustl.edu	37	11	86662235	86662235	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:86662235C>G	ENST00000531380.1	-	2	1868	c.1563G>C	c.(1561-1563)aaG>aaC	p.K521N	PRSS23_ENST00000531521.1_Intron|PRSS23_ENST00000533902.2_Intron	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	521					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CATTTCCTCTCTTCTCTCTCT	0.478																																																	0													139.0	147.0	144.0					11																	86662235		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1563G>C	11.37:g.86662235C>G	ENSP00000434034:p.Lys521Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.K521N	ENST00000531380.1	37	c.1563	CCDS8279.1	11	.	.	.	.	.	.	.	.	.	.	C	5.083	0.200891	0.09652	.	.	ENSG00000174804	ENST00000531380	T	0.80909	-1.43	6.03	1.75	0.24633	.	0.100889	0.64402	D	0.000001	T	0.61862	0.2381	N	0.12746	0.255	0.44611	D	0.99758	B	0.22604	0.072	B	0.20767	0.031	T	0.43621	-0.9380	9	.	.	.	.	11.7306	0.51735	0.0:0.6038:0.0:0.3962	.	521	Q9ULV1	FZD4_HUMAN	N	521	ENSP00000434034:K521N	.	K	-	3	2	FZD4	86339883	0.973000	0.33851	0.938000	0.37757	0.796000	0.44982	0.127000	0.15790	-0.136000	0.11475	-1.851000	0.00568	AAG	FZD4	-	NULL		0.478	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	C	NM_012193		86662235	-1	no_errors	ENST00000531380	ensembl	human	known	70_37	missense	SNP	0.951	G
GABRA2	2555	genome.wustl.edu	37	4	46263983	46263983	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:46263983C>G	ENST00000510861.1	-	9	1192	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	GABRA2_ENST00000507069.1_Missense_Mutation_p.R340T|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340T|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340T|GABRA2_ENST00000515082.1_Missense_Mutation_p.R340T|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340T|GABRA2_ENST00000540012.1_Missense_Mutation_p.R285T			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AGCCCATCCTCTTTTGGTGAA	0.393																																																	0													115.0	108.0	110.0					4																	46263983		2203	4300	6503	SO:0001583	missense	2555				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1019G>C	4.37:g.46263983C>G	ENSP00000421828:p.Arg340Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R285T	ENST00000510861.1	37	c.854	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878645	0.91740	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	D;D;D;D;D;T;D	0.86562	-2.14;-2.14;-2.14;-2.14;-1.86;-0.89;-1.86	5.44	5.44	0.79542	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.998;0.986;1.0	D;D;D	0.91635	0.988;0.913;0.999	D	0.93055	0.6469	10	0.66056	D	0.02	.	18.609	0.91277	0.0:1.0:0.0:0.0	.	285;340;340	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	T	340;340;340;340;285;340;340	ENSP00000421828:R340T;ENSP00000421300:R340T;ENSP00000371033:R340T;ENSP00000348897:R340T;ENSP00000444409:R285T;ENSP00000427603:R340T;ENSP00000423840:R340T	ENSP00000348897:R340T	R	-	2	0	GABRA2	45958740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.949000	0.70257	2.723000	0.93209	0.655000	0.94253	AGA	GABRA2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.393	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	C			46263983	-1	no_errors	ENST00000540012	ensembl	human	known	70_37	missense	SNP	1.000	G
GABRG3	2567	genome.wustl.edu	37	15	27572024	27572024	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:27572024G>C	ENST00000333743.6	+	4	593	c.339G>C	c.(337-339)atG>atC	p.M113I	GABRG3_ENST00000555083.1_Missense_Mutation_p.M113I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	113					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACAGCACAATGAAAATTCTTA	0.453																																					NSCLC(114;800 1656 7410 37729 45293)												0													158.0	158.0	158.0					15																	27572024		1987	4200	6187	SO:0001583	missense	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.339G>C	15.37:g.27572024G>C	ENSP00000331912:p.Met113Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M113I	ENST00000333743.6	37	c.339	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998320	0.54147	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	T;T;T	0.74842	-0.88;-0.88;-0.88	5.75	5.75	0.90469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	L	0.31207	0.915	0.80722	D	1	B;B	0.20988	0.05;0.038	B;B	0.24006	0.05;0.03	T	0.59663	-0.7412	10	0.07325	T	0.83	.	19.016	0.92894	0.0:0.0:1.0:0.0	.	113;113	Q99928;G3V594	GBRG3_HUMAN;.	I	113;113;55	ENSP00000331912:M113I;ENSP00000452244:M113I;ENSP00000451862:M55I	ENSP00000331912:M113I	M	+	3	0	GABRG3	25154770	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.531000	0.98054	2.718000	0.92993	0.650000	0.86243	ATG	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.453	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	G			27572024	+1	no_errors	ENST00000333743	ensembl	human	known	70_37	missense	SNP	1.000	C
GABRR2	2570	genome.wustl.edu	37	6	89974134	89974134	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:89974134C>T	ENST00000402938.3	-	8	1216	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	GABRR2_ENST00000602399.1_Silent_p.E386E	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	361					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	CTCTCACCTTCTCCCGCAGCT	0.577																																																	0													66.0	50.0	55.0					6																	89974134		2203	4300	6503	SO:0001819	synonymous_variant	2570				CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1083G>A	6.37:g.89974134C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDE4|Q9H153	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E386	ENST00000402938.3	37	c.1158	CCDS5020.3	6																																																																																			GABRR2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.577	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	GABRR2	HGNC	protein_coding	OTTHUMT00000041482.3	C			89974134	-1	no_errors	ENST00000402938	ensembl	human	known	70_37	silent	SNP	0.006	T
GALNT7	51809	genome.wustl.edu	37	4	174242730	174242730	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:174242730G>A	ENST00000265000.4	+	12	1919		c.e12-1		RP11-798M19.3_ENST00000507803.1_RNA	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7						carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GTGTTTTCCAGAACCTGCACA	0.378																																																	0													112.0	116.0	114.0					4																	174242730		2203	4300	6503	SO:0001630	splice_region_variant	51809			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1837-1G>A	4.37:g.174242730G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQU3|Q7Z5W7|Q9UJ28	Splice_Site	SNP	-	e12-1	ENST00000265000.4	37	c.1837-1	CCDS3815.1	4	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854324	0.71719	.	.	ENSG00000109586	ENST00000265000;ENST00000505308	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8023	0.96513	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT7	174479305	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.227000	0.89787	2.765000	0.95021	0.655000	0.94253	.	GALNT7	-	-		0.378	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	HGNC	protein_coding	OTTHUMT00000362456.2	G	NM_017423	Intron	174242730	+1	no_errors	ENST00000265000	ensembl	human	known	70_37	splice_site	SNP	1.000	A
GAST	2520	genome.wustl.edu	37	17	39872094	39872094	+	Silent	SNP	C	C	T	rs201414566		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:39872094C>T	ENST00000329402.3	+	3	343	c.276C>T	c.(274-276)ttC>ttT	p.F92F	JUP_ENST00000540235.1_Intron|RNA5SP442_ENST00000365050.1_RNA	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	92					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGATGGACTTCGGCCGCCGCA	0.567																																																	0													68.0	69.0	69.0					17																	39872094		2203	4300	6503	SO:0001819	synonymous_variant	2520				CCDS11404.1	17q21.2	2013-02-26	2005-06-14	2005-06-14	ENSG00000184502	ENSG00000184502		"""Endogenous ligands"""	4164	protein-coding gene	gene with protein product	"""preprogastrin"""	137250		GAS			Standard	NM_000805		Approved		uc002hxl.3	P01350	OTTHUMG00000133496	ENST00000329402.3:c.276C>T	17.37:g.39872094C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P78463|P78464	Silent	SNP	pfam_Gastrin,smart_Gastrin	p.F92	ENST00000329402.3	37	c.276	CCDS11404.1	17																																																																																			GAST	-	pfam_Gastrin,smart_Gastrin		0.567	GAST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAST	HGNC	protein_coding	OTTHUMT00000257409.1	C			39872094	+1	no_errors	ENST00000329402	ensembl	human	known	70_37	silent	SNP	0.474	T
GATS	352954	genome.wustl.edu	37	7	99821295	99821295	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:99821295G>C	ENST00000436886.2	-	4	686	c.438C>G	c.(436-438)gtC>gtG	p.V146V	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand	146										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACGTGTGGGTGACAAAGGGCA	0.597																																																	0													198.0	210.0	206.0					7																	99821295		2133	4243	6376	SO:0001819	synonymous_variant	352954			AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.438C>G	7.37:g.99821295G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	Silent	SNP	NULL	p.V146	ENST00000436886.2	37	c.438	CCDS43621.1	7																																																																																			GATS	-	NULL		0.597	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GATS	Uniprot_genename	protein_coding		G	NM_178831		99821295	-1	no_errors	ENST00000436886	ensembl	human	known	70_37	silent	SNP	1.000	C
GBF1	8729	genome.wustl.edu	37	10	104019846	104019846	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104019846C>G	ENST00000369983.3	+	3	396	c.136C>G	c.(136-138)Cta>Gta	p.L46V	AL160011.1_ENST00000516180.2_RNA	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	46					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TTTCGGTCATCTAAAGGAGGT	0.338																																																	0													184.0	176.0	179.0					10																	104019846		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.136C>G	10.37:g.104019846C>G	ENSP00000359000:p.Leu46Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.L46V	ENST00000369983.3	37	c.136	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536494	0.45176	.	.	ENSG00000107862	ENST00000369983	T	0.38560	1.13	5.15	2.0	0.26442	.	0.169630	0.38605	N	0.001629	T	0.54983	0.1892	M	0.86864	2.845	0.42796	D	0.993914	P;D;P;D	0.60575	0.841;0.963;0.772;0.988	P;P;B;P	0.50754	0.54;0.54;0.133;0.649	T	0.61700	-0.7009	10	0.87932	D	0	-6.9531	10.2895	0.43588	0.0:0.6401:0.0:0.3599	.	46;46;46;46	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	46	ENSP00000359000:L46V	ENSP00000359000:L46V	L	+	1	2	GBF1	104009836	0.461000	0.25783	0.993000	0.49108	0.500000	0.33767	0.594000	0.24014	0.195000	0.20347	-0.145000	0.13849	CTA	GBF1	-	superfamily_ARM-type_fold		0.338	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	C			104019846	+1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	0.945	G
GBF1	8729	genome.wustl.edu	37	10	104122367	104122367	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104122367G>C	ENST00000369983.3	+	15	2079	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	607					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGAGAAGAAGGAGACAGCCAG	0.488																																																	0													163.0	141.0	149.0					10																	104122367		2203	4300	6503	SO:0001583	missense	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1819G>C	10.37:g.104122367G>C	ENSP00000359000:p.Glu607Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E607Q	ENST00000369983.3	37	c.1819	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832785	0.71258	.	.	ENSG00000107862	ENST00000369983	T	0.09817	2.94	5.67	5.67	0.87782	.	0.087923	0.85682	D	0.000000	T	0.21550	0.0519	L	0.59436	1.845	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.985;0.985	P;P;P	0.53006	0.715;0.622;0.622	T	0.02546	-1.1143	10	0.12103	T	0.63	-12.44	20.1421	0.98061	0.0:0.0:1.0:0.0	.	607;607;607	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Q	607	ENSP00000359000:E607Q	ENSP00000359000:E607Q	E	+	1	0	GBF1	104112357	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.307000	0.78920	2.836000	0.97738	0.655000	0.94253	GAG	GBF1	-	NULL		0.488	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104122367	+1	no_errors	ENST00000369983	ensembl	human	known	70_37	missense	SNP	1.000	C
GBP3	2635	genome.wustl.edu	37	1	89476775	89476775	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:89476775C>T	ENST00000370481.4	-	8	1394	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	150					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTACAAAAGTCATCCCGCTTT	0.393																																																	0													116.0	91.0	100.0					1																	89476775		2191	3971	6162	SO:0001583	missense	2635			BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1174G>A	1.37:g.89476775C>T	ENSP00000359512:p.Asp392Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.D392N	ENST00000370481.4	37	c.1174	CCDS717.2	1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.345326	0.24426	.	.	ENSG00000117226	ENST00000370482;ENST00000370481;ENST00000235878	T	0.54071	0.59	3.79	2.87	0.33458	Guanylate-binding protein, C-terminal (3);	0.374610	0.28338	N	0.015712	T	0.35189	0.0923	M	0.85630	2.765	0.09310	N	1	B;B	0.18610	0.029;0.017	B;B	0.23419	0.038;0.046	T	0.41858	-0.9485	10	0.51188	T	0.08	.	6.0552	0.19807	0.0:0.767:0.0:0.233	.	258;392	F6X827;Q9H0R5	.;GBP3_HUMAN	N	360;392;392	ENSP00000359512:D392N	ENSP00000235878:D392N	D	-	1	0	GBP3	89249363	0.311000	0.24536	0.002000	0.10522	0.066000	0.16364	2.249000	0.43169	0.942000	0.37525	0.603000	0.83216	GAC	GBP3	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C		0.393	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP3	HGNC	protein_coding	OTTHUMT00000313541.3	C	NM_018284		89476775	-1	no_errors	ENST00000370481	ensembl	human	known	70_37	missense	SNP	0.004	T
GCKR	2646	genome.wustl.edu	37	2	27746301	27746301	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:27746301C>T	ENST00000264717.2	+	19	1936	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	GCKR_ENST00000424318.2_Nonsense_Mutation_p.Q435*	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	625					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GCCTGACGTTCAGTGAACCCA	0.617																																																	0													57.0	56.0	56.0					2																	27746301		2203	4300	6503	SO:0001587	stop_gained	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1873C>T	2.37:g.27746301C>T	ENSP00000264717:p.Gln625*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C2|B4DPQ2|Q53RY6|Q99522	Nonsense_Mutation	SNP	NULL	p.Q625*	ENST00000264717.2	37	c.1873	CCDS1757.1	2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494001	0.44352	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	.	.	.	3.95	1.97	0.26223	.	1.062050	0.07588	U	0.921446	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	4.9134	0.13833	0.0:0.6609:0.2191:0.12	.	.	.	.	X	625;435	.	ENSP00000264717:Q625X	Q	+	1	0	GCKR	27599805	0.000000	0.05858	0.018000	0.16275	0.005000	0.04900	0.683000	0.25349	0.992000	0.38840	-0.251000	0.11542	CAG	GCKR	-	NULL		0.617	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	C	NM_001486		27746301	+1	no_errors	ENST00000264717	ensembl	human	known	70_37	nonsense	SNP	0.005	T
GCNT2	2651	genome.wustl.edu	37	6	10557320	10557320	+	Intron	SNP	C	C	T	rs574686656		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:10557320C>T	ENST00000379597.3	+	1	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Missense_Mutation_p.H222Y|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCCCCAGCTCATGCAATTGG	0.478													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20947	0.0		0.0	False		,,,				2504	0.0																0													61.0	59.0	59.0					6																	10557320		2203	4300	6503	SO:0001627	intron_variant	2651			L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+27251C>T	6.37:g.10557320C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Glyco_trans_14	p.H222Y	ENST00000379597.3	37	c.664	CCDS34338.1	6	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699804	0.30142	.	.	ENSG00000111846	ENST00000316170	T	0.11604	2.76	5.01	5.01	0.66863	.	.	.	.	.	T	0.06735	0.0172	L	0.48218	1.51	0.80722	D	1	B	0.20459	0.045	B	0.26614	0.071	T	0.17745	-1.0359	9	0.27082	T	0.32	.	18.272	0.90071	0.0:1.0:0.0:0.0	.	222	Q06430	GNT2B_HUMAN	Y	222	ENSP00000314844:H222Y	ENSP00000314844:H222Y	H	+	1	0	GCNT2	10665306	0.950000	0.32346	0.109000	0.21407	0.534000	0.34807	2.127000	0.42035	2.472000	0.83506	0.655000	0.94253	CAT	GCNT2	-	pfam_Glyco_trans_14		0.478	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GCNT2	HGNC	protein_coding	OTTHUMT00000327912.3	C	NM_145649		10557320	+1	no_errors	ENST00000316170	ensembl	human	known	70_37	missense	SNP	0.999	T
GDF5	8200	genome.wustl.edu	37	20	34021779	34021779	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:34021779G>A	ENST00000374372.1	-	4	1937	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Silent_p.F478F			P43026	GDF5_HUMAN	growth differentiation factor 5	478					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAGAGTCAATGAAGAGGATGC	0.572																																																	0													124.0	108.0	113.0					20																	34021779		2203	4300	6503	SO:0001819	synonymous_variant	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1434C>T	20.37:g.34021779G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Q2|Q96SB1	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.F478	ENST00000374372.1	37	c.1434	CCDS13254.1	20																																																																																			GDF5	-	pfam_TGF-b_C,smart_TGF-b_C		0.572	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	HGNC	protein_coding	OTTHUMT00000078875.2	G			34021779	-1	no_errors	ENST00000374369	ensembl	human	known	70_37	silent	SNP	1.000	A
GEM	2669	genome.wustl.edu	37	8	95272461	95272461	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:95272461G>C	ENST00000297596.2	-	2	535	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V	GEM_ENST00000396194.2_Missense_Mutation_p.L91V	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	91					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.L91L(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATGTTGGCCAGAGTGGACTTG	0.597																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)												1	Substitution - coding silent(1)	lung(1)											101.0	95.0	97.0					8																	95272461		2203	4300	6503	SO:0001583	missense	2669				CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.271C>G	8.37:g.95272461G>C	ENSP00000297596:p.Leu91Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA31	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L91V	ENST00000297596.2	37	c.271	CCDS6261.1	8	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236788	0.58886	.	.	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	D;D;T	0.87179	-2.22;-2.22;-1.11	5.29	4.41	0.53225	Small GTP-binding protein domain (1);	0.072303	0.64402	D	0.000019	D	0.88742	0.6519	M	0.88906	2.99	0.58432	D	0.999999	B	0.30146	0.27	B	0.35813	0.211	D	0.88174	0.2866	10	0.52906	T	0.07	.	9.1763	0.37114	0.0757:0.0:0.7774:0.1469	.	91	P55040	GEM_HUMAN	V	91	ENSP00000379497:L91V;ENSP00000297596:L91V;ENSP00000428258:L91V	ENSP00000297596:L91V	L	-	1	2	GEM	95341637	0.941000	0.31946	1.000000	0.80357	0.999000	0.98932	1.463000	0.35277	2.473000	0.83533	0.655000	0.94253	CTG	GEM	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.597	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEM	HGNC	protein_coding	OTTHUMT00000378566.1	G	NM_181702		95272461	-1	no_errors	ENST00000297596	ensembl	human	known	70_37	missense	SNP	0.999	C
GEMIN5	25929	genome.wustl.edu	37	5	154280963	154280963	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:154280963G>A	ENST00000285873.7	-	21	3025	c.2950C>T	c.(2950-2952)Cac>Tac	p.H984Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	984					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAAAGTAGGTGAGAAGCAGCC	0.448																																																	0													117.0	115.0	116.0					5																	154280963		2203	4300	6503	SO:0001583	missense	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2950C>T	5.37:g.154280963G>A	ENSP00000285873:p.His984Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H984Y	ENST00000285873.7	37	c.2950	CCDS4330.1	5	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103940	0.37145	.	.	ENSG00000082516	ENST00000285873	T	0.67345	-0.26	5.93	5.06	0.68205	.	0.048773	0.85682	N	0.000000	T	0.46502	0.1396	N	0.12746	0.255	0.54753	D	0.999983	B;B	0.13594	0.008;0.008	B;B	0.12156	0.007;0.007	T	0.38286	-0.9668	10	0.10377	T	0.69	-11.1596	14.2267	0.65863	0.0723:0.0:0.9277:0.0	.	983;984	B7ZLC9;Q8TEQ6	.;GEMI5_HUMAN	Y	984	ENSP00000285873:H984Y	ENSP00000285873:H984Y	H	-	1	0	GEMIN5	154261156	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	5.002000	0.63952	1.475000	0.48197	0.655000	0.94253	CAC	GEMIN5	-	NULL		0.448	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	G			154280963	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	missense	SNP	1.000	A
GFRA1	2674	genome.wustl.edu	37	10	117824046	117824046	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:117824046delC	ENST00000355422.6	-	11	1811	c.1261delG	c.(1261-1263)gaafs	p.E421fs	GFRA1_ENST00000369236.1_Frame_Shift_Del_p.E416fs|GFRA1_ENST00000439649.3_Frame_Shift_Del_p.E416fs|GFRA1_ENST00000544592.1_Frame_Shift_Del_p.E300fs	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	421					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCTTCTTTTTCATAATTACCC	0.488																																					Ovarian(128;329 1725 45498 46808 50759)												0													156.0	127.0	137.0					10																	117824046		2203	4300	6503	SO:0001589	frameshift_variant	2674			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1261delG	10.37:g.117824046delC	ENSP00000347591:p.Glu421fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA21|O15507|O43912	Frame_Shift_Del	DEL	pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1	p.E421fs	ENST00000355422.6	37	c.1261	CCDS44481.1	10																																																																																			GFRA1	-	pirsf_Glial_neurotroph_fac_rcpt_a1/2		0.488	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GFRA1	HGNC	protein_coding	OTTHUMT00000050512.2	C	NM_145793		117824046	-1	no_errors	ENST00000439649	ensembl	human	known	70_37	frame_shift_del	DEL	0.987	-
GGA2	23062	genome.wustl.edu	37	16	23478641	23478641	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:23478641G>A	ENST00000309859.4	-	0	2194				GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AGATGATGATGATGAGAAATG	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	23062			AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.*270C>T	16.37:g.23478641G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWF0|O14564|Q9NYN2|Q9UPS2	RNA	SNP	-	NULL	ENST00000309859.4	37	NULL	CCDS10611.1	16																																																																																			GGA2	-	-		0.493	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA2	HGNC	protein_coding	OTTHUMT00000214019.1	G			23478641	-1	no_errors	ENST00000566685	ensembl	human	putative	70_37	rna	SNP	0.001	A
GGN	199720	genome.wustl.edu	37	19	38876431	38876431	+	Missense_Mutation	SNP	C	C	T	rs200124007	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38876431C>T	ENST00000334928.6	-	3	1603	c.1471G>A	c.(1471-1473)Gac>Aac	p.D491N	SPRED3_ENST00000587013.1_5'Flank|AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	491	Interactions with ZNF403/GGNBP2 and OAZ3. {ECO:0000250}.|Pro-rich.				cell differentiation (GO:0030154)|gamete generation (GO:0007276)|multicellular organismal development (GO:0007275)|protein localization (GO:0008104)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ggggcctggtcggcggctaag	0.771													C|||	12	0.00239617	0.0	0.0043	5008	,	,		9570	0.0		0.0089	False		,,,				2504	0.0																0													3.0	4.0	3.0					19																	38876431		1606	3371	4977	SO:0001583	missense	199720			AF538035	CCDS12516.1	19q13.2	2008-09-04				ENSG00000179168			18869	protein-coding gene	gene with protein product		609966				12574169	Standard	NM_152657		Approved	FLJ35713, MGC33369	uc002oij.1	Q86UU5		ENST00000334928.6:c.1471G>A	19.37:g.38876431C>T	ENSP00000334940:p.Asp491Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7RTU6|Q86UU4|Q8NAA1	Missense_Mutation	SNP	NULL	p.D491N	ENST00000334928.6	37	c.1471	CCDS12516.1	19	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699139	0.48307	.	.	ENSG00000179168	ENST00000334928	.	.	.	3.16	0.83	0.18854	.	0.208595	0.23987	N	0.042604	T	0.17916	0.0430	N	0.24115	0.695	0.09310	N	1	B;B	0.20459	0.045;0.045	B;B	0.11329	0.006;0.006	T	0.13045	-1.0524	9	0.23302	T	0.38	-2.0573	3.7995	0.08753	0.2365:0.6282:0.0:0.1353	.	408;491	Q86UU5-2;Q86UU5	.;GGN_HUMAN	N	491	.	ENSP00000334940:D491N	D	-	1	0	GGN	43568271	0.019000	0.18553	0.001000	0.08648	0.547000	0.35210	1.803000	0.38863	0.150000	0.19136	0.455000	0.32223	GAC	GGN	-	NULL		0.771	GGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGN	HGNC	protein_coding	OTTHUMT00000459205.1	C	NM_152657		38876431	-1	no_errors	ENST00000334928	ensembl	human	known	70_37	missense	SNP	0.002	T
GGNBP2	79893	genome.wustl.edu	37	17	34923557	34923557	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:34923557G>C	ENST00000304718.4	+	6	899	c.583G>C	c.(583-585)Gtt>Ctt	p.V195L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	195					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGATGAAGTAGTTTTAATTGA	0.393																																																	0													182.0	169.0	174.0					17																	34923557		2203	4300	6503	SO:0001583	missense	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.583G>C	17.37:g.34923557G>C	ENSP00000307617:p.Val195Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	NULL	p.V195L	ENST00000304718.4	37	c.583	CCDS11314.1	17	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379447	0.82682	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.48	5.48	0.80851	.	0.117810	0.56097	D	0.000026	T	0.52500	0.1738	L	0.38531	1.155	0.80722	D	1	P;P	0.42871	0.792;0.525	B;B	0.40864	0.342;0.164	T	0.51411	-0.8709	9	0.36615	T	0.2	-16.7558	19.4017	0.94632	0.0:0.0:1.0:0.0	.	195;195	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	L	195	.	ENSP00000307617:V195L	V	+	1	0	GGNBP2	31997670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.092000	0.94157	2.577000	0.86979	0.558000	0.71614	GTT	GGNBP2	-	NULL		0.393	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	G	NM_024835		34923557	+1	no_errors	ENST00000304718	ensembl	human	known	70_37	missense	SNP	1.000	C
GHR	2690	genome.wustl.edu	37	5	42718888	42718888	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:42718888G>C	ENST00000230882.4	+	10	1469	c.1279G>C	c.(1279-1281)Gac>Cac	p.D427H	GHR_ENST00000537449.1_Missense_Mutation_p.D240H|GHR_ENST00000357703.3_Missense_Mutation_p.D405H|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	427					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTTATGCCTTGACCAGAAGAA	0.453																																																	0													79.0	71.0	74.0					5																	42718888		2203	4300	6503	SO:0001583	missense	2690				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.1279G>C	5.37:g.42718888G>C	ENSP00000230882:p.Asp427His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HCX2	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D427H	ENST00000230882.4	37	c.1279	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024396	0.35701	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000537449	T;T;T	0.38240	1.15;1.15;1.15	6.02	5.14	0.70334	.	0.374699	0.32473	N	0.006043	T	0.50017	0.1591	M	0.83953	2.67	0.50467	D	0.999871	B	0.31989	0.35	B	0.44163	0.443	T	0.43940	-0.9360	10	0.28530	T	0.3	-18.32	11.7226	0.51691	0.0674:0.1249:0.8078:0.0	.	427	P10912	GHR_HUMAN	H	427;405;240	ENSP00000230882:D427H;ENSP00000350335:D405H;ENSP00000442206:D240H	ENSP00000230882:D427H	D	+	1	0	GHR	42754645	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.916000	0.48813	2.859000	0.98148	0.591000	0.81541	GAC	GHR	-	NULL		0.453	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	G	NM_000163		42718888	+1	no_errors	ENST00000230882	ensembl	human	known	70_37	missense	SNP	1.000	C
GHSR	2693	genome.wustl.edu	37	3	172165378	172165378	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:172165378G>C	ENST00000241256.2	-	1	839				GHSR_ENST00000427970.1_Missense_Mutation_p.L276V	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor						actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGACCCGCGAGAGAAAGCCTG	0.592																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0													81.0	91.0	88.0					3																	172165378		2203	4300	6503	SO:0001627	intron_variant	2693			AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.796+29C>G	3.37:g.172165378G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt,prints_GPCR_Rhodpsn	p.L276V	ENST00000241256.2	37	c.826	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.559357	0.00910	.	.	ENSG00000121853	ENST00000427970	T	0.61392	0.11	4.24	-0.236	0.13067	.	.	.	.	.	T	0.22627	0.0546	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.23084	-1.0198	8	0.02654	T	1	.	1.0363	0.01549	0.215:0.1767:0.4276:0.1808	.	276	Q92847-2	.	V	276	ENSP00000395344:L276V	ENSP00000395344:L276V	L	-	1	0	GHSR	173648072	0.002000	0.14202	0.002000	0.10522	0.089000	0.18198	-0.102000	0.10956	-0.055000	0.13244	-0.384000	0.06662	CTC	GHSR	-	pfscan_GPCR_Rhodpsn_7TM		0.592	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	HGNC	protein_coding	OTTHUMT00000346728.1	G	NM_004122		172165378	-1	no_errors	ENST00000427970	ensembl	human	known	70_37	missense	SNP	0.001	C
GIPC1	10755	genome.wustl.edu	37	19	14590226	14590226	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:14590226G>C	ENST00000393033.4	-	7	1035	c.766C>G	c.(766-768)Ctg>Gtg	p.L256V	GIPC1_ENST00000393029.3_Missense_Mutation_p.L159V|GIPC1_ENST00000345425.2_Missense_Mutation_p.L256V|GIPC1_ENST00000393028.1_Missense_Mutation_p.L159V|GIPC1_ENST00000591349.1_Missense_Mutation_p.L159V|GIPC1_ENST00000586027.1_Missense_Mutation_p.L256V	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	256					endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|glutamate secretion (GO:0014047)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cytokinesis (GO:0032467)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein targeting (GO:0006605)|regulation of protein stability (GO:0031647)|regulation of synaptic plasticity (GO:0048167)|synaptic transmission (GO:0007268)	brush border (GO:0005903)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|myosin binding (GO:0017022)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GCACTCACCAGATCCTCCACC	0.632																																					Pancreas(33;78 923 2910 41023 52850)												0													8.0	10.0	10.0					19																	14590226		2167	4252	6419	SO:0001583	missense	10755			AF089816	CCDS12310.1, CCDS12311.1	19p13.1	2009-09-22	2005-06-28	2005-06-28					1226	protein-coding gene	gene with protein product		605072	"""chromosome 19 open reading frame 3"", ""regulator of G-protein signalling 19 interacting protein 1"""	C19orf3, RGS19IP1		9770488, 9482110	Standard	NM_005716		Approved	TIP-2, Hs.6454, GIPC, SEMCAP, GLUT1CBP, SYNECTIN, NIP	uc002myx.4	O14908		ENST00000393033.4:c.766C>G	19.37:g.14590226G>C	ENSP00000376753:p.Leu256Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4I3|A8MZG3|Q9BTC9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.L256V	ENST00000393033.4	37	c.766	CCDS12310.1	19	.	.	.	.	.	.	.	.	.	.	G	2.565	-0.300993	0.05495	.	.	ENSG00000123159	ENST00000393033;ENST00000345425;ENST00000393029;ENST00000393028;ENST00000351277	T;T;D;D	0.85411	-1.41;-1.41;-1.98;-1.98	4.06	1.86	0.25419	.	0.087235	0.47852	N	0.000202	T	0.60818	0.2298	N	0.03268	-0.37	0.47183	D	0.999343	B	0.02656	0.0	B	0.04013	0.001	T	0.45891	-0.9230	10	0.07990	T	0.79	-11.6097	6.8821	0.24179	0.1055:0.1916:0.7029:0.0	.	256	O14908	GIPC1_HUMAN	V	256;256;159;159;256	ENSP00000376753:L256V;ENSP00000340698:L256V;ENSP00000376749:L159V;ENSP00000376748:L159V	ENSP00000340698:L256V	L	-	1	2	GIPC1	14451226	0.001000	0.12720	0.985000	0.45067	0.839000	0.47603	-0.054000	0.11826	0.198000	0.20407	0.462000	0.41574	CTG	GIPC1	-	pirsf_UCP038083_PDZ		0.632	GIPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC1	HGNC	protein_coding	OTTHUMT00000460239.2	G			14590226	-1	no_errors	ENST00000345425	ensembl	human	known	70_37	missense	SNP	0.999	C
GJA8	2703	genome.wustl.edu	37	1	147381160	147381160	+	Missense_Mutation	SNP	G	G	A	rs145727273		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:147381160G>A	ENST00000369235.1	+	1	1078	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	GJA8_ENST00000240986.4_Missense_Mutation_p.E360K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	360					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCACGGAGGAGCAGGAGAA	0.622																																					Melanoma(76;1255 1795 8195 52096)												0								G	LYS/GLU	0,4398		0,0,2199	46.0	45.0	46.0		1078	5.1	0.0	1	dbSNP_134	46	1,8589		0,1,4294	no	missense	GJA8	NM_005267.4	56	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	benign	360/434	147381160	1,12987	2199	4295	6494	SO:0001583	missense	2703			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.1078G>A	1.37:g.147381160G>A	ENSP00000358238:p.Glu360Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.E360K	ENST00000369235.1	37	c.1078	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	g	0.305	-0.971288	0.02232	0.0	1.16E-4	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97480	-4.4;-4.4	5.09	5.09	0.68999	.	2.052490	0.02407	N	0.081303	D	0.89808	0.6822	L	0.29908	0.895	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.76024	-0.3110	10	0.06365	T	0.9	.	15.5018	0.75705	0.0:0.0:1.0:0.0	.	360	P48165	CXA8_HUMAN	K	360	ENSP00000240986:E360K;ENSP00000358238:E360K	ENSP00000240986:E360K	E	+	1	0	GJA8	145847784	0.033000	0.19621	0.008000	0.14137	0.010000	0.07245	2.279000	0.43435	2.628000	0.89032	0.655000	0.94253	GAG	GJA8	-	NULL		0.622	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1	G	NM_005267		147381160	+1	no_errors	ENST00000240986	ensembl	human	known	70_37	missense	SNP	0.078	A
GLI1	2735	genome.wustl.edu	37	12	57861878	57861878	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57861878delG	ENST00000228682.2	+	10	1270	c.1179delG	c.(1177-1179)gtgfs	p.V393fs	GLI1_ENST00000546141.1_Frame_Shift_Del_p.V352fs|GLI1_ENST00000543426.1_Frame_Shift_Del_p.V265fs	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	393					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACGCCCATGTGACCAAACGGC	0.577																																					Pancreas(157;841 1936 10503 41495 50368)												0													87.0	68.0	75.0					12																	57861878		2203	4300	6503	SO:0001589	frameshift_variant	2735				CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1179delG	12.37:g.57861878delG	ENSP00000228682:p.Val393fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T394fs	ENST00000228682.2	37	c.1179	CCDS8940.1	12																																																																																			GLI1	-	NULL		0.577	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	HGNC	protein_coding	OTTHUMT00000394197.1	G	NM_005269		57861878	+1	no_errors	ENST00000228682	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
GLOD5	392465	genome.wustl.edu	37	X	48629375	48629375	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:48629375G>C	ENST00000303227.6	+	3	275	c.234G>C	c.(232-234)caG>caC	p.Q78H	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	78										endometrium(1)|lung(2)	3						TTGGAGACCAGAAATTTAACC	0.502																																																	0													45.0	41.0	42.0					X																	48629375		1855	4094	5949	SO:0001583	missense	392465				CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.234G>C	X.37:g.48629375G>C	ENSP00000302552:p.Gln78His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom	p.Q78H	ENST00000303227.6	37	c.234	CCDS55410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.57|16.57	3.160471|3.160471	0.57368|0.57368	.|.	.|.	ENSG00000171433|ENSG00000171433	ENST00000303227|ENST00000445229	.|.	.|.	.|.	4.88|4.88	0.979|0.979	0.19745|0.19745	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65270|0.65270	0.2675|0.2675	M|M	0.84433|0.84433	2.695|2.695	0.43118|0.43118	D|D	0.994838|0.994838	P|.	0.49559|.	0.925|.	P|.	0.53450|.	0.726|.	T|T	0.60182|0.60182	-0.7313|-0.7313	9|5	0.51188|.	T|.	0.08|.	.|.	3.7704|3.7704	0.08639|0.08639	0.3864:0.0:0.4489:0.1648|0.3864:0.0:0.4489:0.1648	.|.	66|.	A6NK44|.	GLOD5_HUMAN|.	H|T	78|45	.|.	ENSP00000302552:Q78H|.	Q|R	+|+	3|2	2|0	GLOD5|GLOD5	48514319|48514319	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.985000|0.985000	0.73830|0.73830	0.678000|0.678000	0.25277|0.25277	-0.164000|-0.164000	0.10927|0.10927	0.380000|0.380000	0.24917|0.24917	CAG|AGA	GLOD5	-	pfam_Glyas_Fos-R_dOase_dom		0.502	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GLOD5	HGNC	protein_coding		G	NM_001080489		48629375	+1	no_errors	ENST00000303227	ensembl	human	known	70_37	missense	SNP	0.999	C
GNE	10020	genome.wustl.edu	37	9	36249292	36249292	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:36249292C>G	ENST00000539815.1	-	1	101	c.61G>C	c.(61-63)Gat>Cat	p.D21H	GNE_ENST00000543356.2_Intron|GNE_ENST00000377902.5_Missense_Mutation_p.D21H|GNE_ENST00000396594.3_Missense_Mutation_p.D52H|GNE_ENST00000447283.2_Missense_Mutation_p.D21H|GNE_ENST00000539208.1_Intron			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	21					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TTAGAATAATCTGCACGGTTA	0.403																																					GBM(184;106 2118 20004 35750 50727)												0													189.0	157.0	168.0					9																	36249292		2203	4300	6503	SO:0001583	missense	10020			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.61G>C	9.37:g.36249292C>G	ENSP00000439155:p.Asp21His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.D52H	ENST00000539815.1	37	c.154	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447648	0.84101	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000539815;ENST00000447283	D;D;D;D	0.99329	-5.75;-5.75;-5.75;-5.75	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.98754	0.9581	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.98;0.996;0.99	D	0.99505	1.0954	10	0.87932	D	0	1.2531	15.8196	0.78628	0.0:1.0:0.0:0.0	.	52;21;21	Q9Y223-2;Q9Y223;A7UNU7	.;GLCNE_HUMAN;.	H	21;52;21;21	ENSP00000367134:D21H;ENSP00000379839:D52H;ENSP00000439155:D21H;ENSP00000414760:D21H	ENSP00000367134:D21H	D	-	1	0	GNE	36239292	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.995000	0.76257	2.684000	0.91462	0.561000	0.74099	GAT	GNE	-	tigrfam_UDP-GlcNAc_Epase		0.403	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	C	NM_005476		36249292	-1	no_errors	ENST00000396594	ensembl	human	known	70_37	missense	SNP	1.000	G
GNPTAB	79158	genome.wustl.edu	37	12	102158230	102158230	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:102158230G>A	ENST00000299314.7	-	13	2727	c.2465C>T	c.(2464-2466)aCc>aTc	p.T822I	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	822					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GGTTTTTTGGGTGTGAGTTTC	0.443																																																	0													159.0	164.0	162.0					12																	102158230		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2465C>T	12.37:g.102158230G>A	ENSP00000299314:p.Thr822Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.T822I	ENST00000299314.7	37	c.2465	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042216	0.19748	.	.	ENSG00000111670	ENST00000299314	D	0.96265	-3.96	5.37	3.56	0.40772	.	0.691569	0.14519	N	0.314612	D	0.92289	0.7554	L	0.36672	1.1	0.09310	N	0.99999	B	0.06786	0.001	B	0.06405	0.002	T	0.83349	-0.0004	10	0.32370	T	0.25	-4.2181	8.7894	0.34841	0.2316:0.0:0.7684:0.0	.	822	Q3T906	GNPTA_HUMAN	I	822	ENSP00000299314:T822I	ENSP00000299314:T822I	T	-	2	0	GNPTAB	100682361	0.001000	0.12720	0.009000	0.14445	0.026000	0.11368	0.410000	0.21098	0.655000	0.30866	-0.137000	0.14449	ACC	GNPTAB	-	NULL		0.443	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	G			102158230	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.008	A
GNPTAB	79158	genome.wustl.edu	37	12	102161817	102161817	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:102161817G>C	ENST00000299314.7	-	11	1668	c.1406C>G	c.(1405-1407)tCt>tGt	p.S469C	GNPTAB_ENST00000549940.1_Missense_Mutation_p.S469C|RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	469	Gly-rich.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATCCTTACCAGAGCAATCCCC	0.398																																																	0													99.0	90.0	93.0					12																	102161817		2203	4300	6503	SO:0001583	missense	79158			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1406C>G	12.37:g.102161817G>C	ENSP00000299314:p.Ser469Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom	p.S469C	ENST00000299314.7	37	c.1406	CCDS9088.1	12	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801750	0.31869	.	.	ENSG00000111670	ENST00000299314;ENST00000549940	D;D	0.92965	-3.14;-3.14	5.71	4.6	0.57074	Notch domain (4);	0.477800	0.23754	N	0.044889	D	0.86134	0.5860	N	0.24115	0.695	0.80722	D	1	P;P	0.41102	0.738;0.711	B;B	0.43478	0.413;0.421	D	0.84685	0.0719	10	0.54805	T	0.06	-21.9981	7.2621	0.26209	0.2306:0.0:0.7694:0.0	.	469;469	Q3T906-2;Q3T906	.;GNPTA_HUMAN	C	469	ENSP00000299314:S469C;ENSP00000449150:S469C	ENSP00000299314:S469C	S	-	2	0	GNPTAB	100685948	0.998000	0.40836	0.945000	0.38365	0.047000	0.14425	3.356000	0.52269	2.861000	0.98227	0.650000	0.86243	TCT	GNPTAB	-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom		0.398	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	HGNC	protein_coding	OTTHUMT00000409182.1	G			102161817	-1	no_errors	ENST00000299314	ensembl	human	known	70_37	missense	SNP	0.944	C
GOLGA1	2800	genome.wustl.edu	37	9	127700957	127700957	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:127700957C>G	ENST00000373555.4	-	3	367	c.34G>C	c.(34-36)Gag>Cag	p.E12Q		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	12					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						ACAGCAGTCTCTTCTGCAATT	0.498																																																	0													130.0	119.0	123.0					9																	127700957		2203	4300	6503	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.34G>C	9.37:g.127700957C>G	ENSP00000362656:p.Glu12Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T164|Q8IYZ9	Missense_Mutation	SNP	pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP	p.E12Q	ENST00000373555.4	37	c.34	CCDS6860.1	9	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000222	0.93227	.	.	ENSG00000136935	ENST00000373555;ENST00000421514	T;T	0.18338	2.22;2.22	5.03	5.03	0.67393	.	0.000000	0.43110	U	0.000607	T	0.44117	0.1278	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43180	-0.9407	10	0.87932	D	0	-14.2885	17.7193	0.88345	0.0:1.0:0.0:0.0	.	12	Q92805	GOGA1_HUMAN	Q	12	ENSP00000362656:E12Q;ENSP00000396966:E12Q	ENSP00000362656:E12Q	E	-	1	0	GOLGA1	126740778	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.421000	0.80204	2.498000	0.84270	0.557000	0.71058	GAG	GOLGA1	-	NULL		0.498	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA1	HGNC	protein_coding	OTTHUMT00000054049.1	C	NM_002077		127700957	-1	no_errors	ENST00000373555	ensembl	human	known	70_37	missense	SNP	1.000	G
GOLGA5	9950	genome.wustl.edu	37	14	93282695	93282695	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:93282695G>T	ENST00000163416.2	+	7	1676	c.1420G>T	c.(1420-1422)Gag>Tag	p.E474*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.E474*	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	474					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ACTTCGGCATGAGAAAGAGAT	0.453			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0													123.0	120.0	121.0					14																	93282695		2203	4300	6503	SO:0001587	stop_gained	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1420G>T	14.37:g.93282695G>T	ENSP00000163416:p.Glu474*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Nonsense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.E474*	ENST00000163416.2	37	c.1420	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	G	40	8.205557	0.98704	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	.	.	.	5.28	5.28	0.74379	.	0.000000	0.46442	D	0.000291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-22.585	18.9031	0.92451	0.0:0.0:1.0:0.0	.	.	.	.	X	474;474;383	.	ENSP00000163416:E474X	E	+	1	0	GOLGA5	92352448	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	8.929000	0.92859	2.459000	0.83118	0.655000	0.94253	GAG	GOLGA5	-	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin		0.453	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	G			93282695	+1	no_errors	ENST00000163416	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23685325	23685326	+	In_Frame_Ins	INS	-	-	CTG	rs74188197|rs140967206		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:23685325_23685326insCTG	ENST00000567107.1	-	8	2348_2349	c.2296_2297insCAG	c.(2296-2298)gga>gCAGga	p.765_766insA	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						tgcatcttctcctcctgcgtct	0.574																																																	0																																										SO:0001652	inframe_insertion	283685			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2296_2297insCAG	15.37:g.23685325_23685326insCTG	ENSP00000454407:p.Gly765_Gly766insAla	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L301	In_Frame_Ins	INS	NULL	p.766in_frame_insA	ENST00000567107.1	37	c.2297_2296		15																																																																																			GOLGA6L2	-	NULL		0.574	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	-	NM_182561		23685326	-1	no_errors	ENST00000567107	ensembl	human	putative	70_37	in_frame_ins	INS	0.016:0.016	CTG
GOLGA6L6	727832	genome.wustl.edu	37	15	20740076	20740076	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:20740076C>G	ENST00000427390.2	-	8	1764	c.1674G>C	c.(1672-1674)aaG>aaC	p.K558N		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	558	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						cctccCATATCTTCTCCTGCT	0.562																																																	0													72.0	74.0	73.0					15																	20740076		676	1551	2227	SO:0001583	missense	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1674G>C	15.37:g.20740076C>G	ENSP00000398615:p.Lys558Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3YTC0	Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.K558N	ENST00000427390.2	37	c.1674	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	C	2.612	-0.290464	0.05568	.	.	ENSG00000215405	ENST00000427390	T	0.14766	2.48	.	.	.	.	.	.	.	.	T	0.06645	0.0170	N	0.14661	0.345	0.09310	N	1	P	0.46020	0.871	B	0.40741	0.339	T	0.33163	-0.9879	7	0.17369	T	0.5	.	.	.	.	.	558	A8MZA4	GG6L6_HUMAN	N	558	ENSP00000398615:K558N	ENSP00000398615:K558N	K	-	3	2	GOLGA6L6	19000090	0.018000	0.18449	0.056000	0.19401	0.057000	0.15508	0.098000	0.15189	0.159000	0.19401	0.162000	0.16502	AAG	GOLGA6L6	-	NULL		0.562	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	C	NM_001145004		20740076	-1	no_errors	ENST00000427390	ensembl	human	known	70_37	missense	SNP	0.130	G
GOLGA6L6	727832	genome.wustl.edu	37	15	20740454	20740454	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:20740454C>A	ENST00000427390.2	-	8	1386	c.1296G>T	c.(1294-1296)atG>atT	p.M432I		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	432	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						cctgcctccacatcttcgcct	0.552																																																	0													2.0	1.0	1.0					15																	20740454		241	339	580	SO:0001583	missense	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1296G>T	15.37:g.20740454C>A	ENSP00000398615:p.Met432Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3YTC0	Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.M432I	ENST00000427390.2	37	c.1296	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	C	1.485	-0.556101	0.03967	.	.	ENSG00000215405	ENST00000427390	T	0.07567	3.18	.	.	.	.	.	.	.	.	T	0.03520	0.0101	N	0.12182	0.205	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.40308	-0.9570	7	0.35671	T	0.21	.	.	.	.	.	432	A8MZA4	GG6L6_HUMAN	I	432	ENSP00000398615:M432I	ENSP00000398615:M432I	M	-	3	0	GOLGA6L6	19000468	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-1.609000	0.02066	-1.371000	0.02141	-1.353000	0.01230	ATG	GOLGA6L6	-	NULL		0.552	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	C	NM_001145004		20740454	-1	no_errors	ENST00000427390	ensembl	human	known	70_37	missense	SNP	0.728	A
GOLGA7B	401647	genome.wustl.edu	37	10	99625350	99625350	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:99625350G>C	ENST00000370602.1	+	5	462	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	CRTAC1_ENST00000370597.3_Silent_p.L647L|GOLGA7B_ENST00000596005.1_5'Flank|CRTAC1_ENST00000298819.4_3'UTR	NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	133						Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|prostate(1)	5						ACCCCAGATTGAGATCTCCAT	0.667																																																	0													39.0	39.0	39.0					10																	99625350		2203	4300	6503	SO:0001583	missense	401647			BC008047	CCDS31265.1	10q24.2	2011-10-25	2010-02-12	2008-10-03	ENSG00000155265	ENSG00000155265			31668	protein-coding gene	gene with protein product		614189	"""chromosome 10 open reading frame 133"", ""chromosome 10 open reading frame 132"", ""golgi autoantigen, golgin subfamily a, 7B"""	C10orf133, C10orf132			Standard	NM_001010917		Approved	bA459F3.4, bA451M19.3	uc001kos.3	Q2TAP0	OTTHUMG00000018869	ENST00000370602.1:c.397G>C	10.37:g.99625350G>C	ENSP00000359634:p.Glu133Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4F5	Missense_Mutation	SNP	pfam_Golgin_A_7/ERF4	p.E133Q	ENST00000370602.1	37	c.397	CCDS31265.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117374	0.77323	.	.	ENSG00000155265	ENST00000370602	.	.	.	4.59	4.59	0.56863	.	0.152045	0.42682	D	0.000668	T	0.69459	0.3113	M	0.84683	2.71	0.80722	D	1	P	0.46064	0.872	B	0.42827	0.399	T	0.78326	-0.2247	9	0.72032	D	0.01	-17.892	16.5205	0.84312	0.0:0.0:1.0:0.0	.	133	Q2TAP0	GOG7B_HUMAN	Q	133	.	ENSP00000359634:E133Q	E	+	1	0	GOLGA7B	99615340	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	8.146000	0.89626	2.270000	0.75569	0.462000	0.41574	GAG	GOLGA7B	-	NULL		0.667	GOLGA7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA7B	HGNC	protein_coding	OTTHUMT00000049752.1	G	NM_001010917		99625350	+1	no_errors	ENST00000370602	ensembl	human	known	70_37	missense	SNP	1.000	C
GOLPH3	64083	genome.wustl.edu	37	5	32126046	32126046	+	3'UTR	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:32126046G>T	ENST00000265070.6	-	0	1484				GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)						cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						AGTCAAAGTAGACCAGAAACC	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.*272C>A	5.37:g.32126046G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UIW5	RNA	SNP	-	NULL	ENST00000265070.6	37	NULL	CCDS3896.1	5																																																																																			GOLPH3	-	-		0.428	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLPH3	HGNC	protein_coding	OTTHUMT00000207363.2	G	NM_022130		32126046	-1	no_errors	ENST00000499354	ensembl	human	known	70_37	rna	SNP	0.020	T
GON4L	54856	genome.wustl.edu	37	1	155733122	155733122	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155733122C>T	ENST00000368331.1	-	22	4755	c.4707G>A	c.(4705-4707)gaG>gaA	p.E1569E	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Silent_p.E1569E|GON4L_ENST00000271883.5_Silent_p.E1569E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1569	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCTGCTGGTCTCCACTTCTG	0.498																																																	0													50.0	50.0	50.0					1																	155733122		1914	4143	6057	SO:0001819	synonymous_variant	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4707G>A	1.37:g.155733122C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1569	ENST00000368331.1	37	c.4707		1																																																																																			GON4L	-	NULL		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155733122	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	silent	SNP	0.998	T
GON4L	54856	genome.wustl.edu	37	1	155733142	155733142	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155733142C>T	ENST00000368331.1	-	22	4735	c.4687G>A	c.(4687-4689)Gag>Aag	p.E1563K	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.E1563K|GON4L_ENST00000271883.5_Missense_Mutation_p.E1563K	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1563	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGCAGTCTCAGGTGAAGCA	0.483																																																	0													51.0	51.0	51.0					1																	155733142		1930	4150	6080	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4687G>A	1.37:g.155733142C>T	ENSP00000357315:p.Glu1563Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1563K	ENST00000368331.1	37	c.4687		1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299854	0.05532	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.09723	2.95;2.95;2.95	4.93	-6.12	0.02124	.	1.243270	0.05454	N	0.550009	T	0.00580	0.0019	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.44651	-0.9314	10	0.06757	T	0.87	.	5.6574	0.17650	0.1042:0.1436:0.5535:0.1987	.	759;1563;1563	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	K	1563	ENSP00000396117:E1563K;ENSP00000357315:E1563K;ENSP00000271883:E1563K	ENSP00000271883:E1563K	E	-	1	0	GON4L	153999766	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.917000	0.04025	-1.434000	0.01975	-0.367000	0.07326	GAG	GON4L	-	NULL		0.483	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155733142	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.000	T
GON4L	54856	genome.wustl.edu	37	1	155733290	155733290	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155733290T>A	ENST00000368331.1	-	22	4587	c.4539A>T	c.(4537-4539)gaA>gaT	p.E1513D	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.E1513D|GON4L_ENST00000271883.5_Missense_Mutation_p.E1513D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1513	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AATTCTCTTCTTCAGACTCAC	0.468																																																	0													37.0	35.0	36.0					1																	155733290		1809	3993	5802	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4539A>T	1.37:g.155733290T>A	ENSP00000357315:p.Glu1513Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1513D	ENST00000368331.1	37	c.4539		1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.357621	0.82243	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.18810	2.19;2.19;2.19	4.78	3.82	0.43975	.	0.058426	0.64402	D	0.000004	T	0.25005	0.0607	L	0.56769	1.78	0.37270	D	0.907361	D;D;D	0.76494	0.994;0.998;0.999	D;D;D	0.79784	0.97;0.984;0.993	T	0.03112	-1.1071	10	0.35671	T	0.21	.	8.8634	0.35272	0.0:0.7989:0.0:0.2011	.	709;1513;1513	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	D	1513	ENSP00000396117:E1513D;ENSP00000357315:E1513D;ENSP00000271883:E1513D	ENSP00000271883:E1513D	E	-	3	2	GON4L	153999914	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.229000	0.32600	1.123000	0.41961	0.459000	0.35465	GAA	GON4L	-	NULL		0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		T	NM_032292		155733290	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155734823	155734823	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155734823C>G	ENST00000368331.1	-	21	4489	c.4441G>C	c.(4441-4443)Gag>Cag	p.E1481Q	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.E1481Q|GON4L_ENST00000361040.5_Missense_Mutation_p.E1481Q|GON4L_ENST00000271883.5_Missense_Mutation_p.E1481Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1481	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACAGATTCCTCAGAAGCTGAT	0.443																																																	0													78.0	72.0	74.0					1																	155734823		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4441G>C	1.37:g.155734823C>G	ENSP00000357315:p.Glu1481Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.E1481Q	ENST00000368331.1	37	c.4441		1	.	.	.	.	.	.	.	.	.	.	C	30	5.052889	0.93793	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000361040	T;T;T;T	0.43688	1.32;1.32;1.32;0.94	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	L	0.59436	1.845	0.49130	D	0.999752	D;P;D;D	0.89917	1.0;0.935;0.974;0.985	D;P;P;P	0.85130	0.997;0.494;0.638;0.801	T	0.55464	-0.8137	10	0.54805	T	0.06	.	18.228	0.89924	0.0:1.0:0.0:0.0	.	1481;677;1481;1481	Q3T8J9-2;Q1ED43;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	Q	1481	ENSP00000396117:E1481Q;ENSP00000357315:E1481Q;ENSP00000271883:E1481Q;ENSP00000354322:E1481Q	ENSP00000271883:E1481Q	E	-	1	0	GON4L	154001447	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.202000	0.77856	2.630000	0.89119	0.650000	0.86243	GAG	GON4L	-	NULL		0.443	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		C	NM_032292		155734823	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	1.000	G
GP9	2815	genome.wustl.edu	37	3	128780619	128780619	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:128780619A>G	ENST00000307395.4	+	3	259	c.37A>G	c.(37-39)Aca>Gca	p.T13A		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	13					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GCTCTGGGCCACAGCAGAGGC	0.687																																																	0													20.0	21.0	21.0					3																	128780619		2201	4298	6499	SO:0001583	missense	2815				CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.37A>G	3.37:g.128780619A>G	ENSP00000303942:p.Thr13Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C	p.T13A	ENST00000307395.4	37	c.37	CCDS3055.1	3	.	.	.	.	.	.	.	.	.	.	A	1.794	-0.478880	0.04414	.	.	ENSG00000169704	ENST00000307395	T	0.78924	-1.22	4.23	-7.76	0.01232	.	1.125280	0.06927	N	0.810405	T	0.34600	0.0903	N	0.01109	-1.01	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41520	-0.9504	10	0.06236	T	0.91	-0.0018	1.1067	0.01695	0.4488:0.1188:0.1723:0.2602	.	13	P14770	GPIX_HUMAN	A	13	ENSP00000303942:T13A	ENSP00000303942:T13A	T	+	1	0	GP9	130263309	0.000000	0.05858	0.000000	0.03702	0.202000	0.24057	-2.194000	0.01243	-1.343000	0.02219	-0.695000	0.03696	ACA	GP9	-	NULL		0.687	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP9	HGNC	protein_coding	OTTHUMT00000358428.1	A			128780619	+1	no_errors	ENST00000307395	ensembl	human	known	70_37	missense	SNP	0.000	G
GPATCH3	63906	genome.wustl.edu	37	1	27218951	27218951	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:27218951C>G	ENST00000361720.5	-	6	1335	c.1312G>C	c.(1312-1314)Gag>Cag	p.E438Q	GPN2_ENST00000374135.4_5'Flank	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	438	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.						nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCAGGGCCTCAGGCACCCCT	0.637																																																	0													61.0	61.0	61.0					1																	27218951		2203	4300	6503	SO:0001583	missense	63906			BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.1312G>C	1.37:g.27218951C>G	ENSP00000354645:p.Glu438Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYH2|Q8NDJ2|Q9H9Z3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E438Q	ENST00000361720.5	37	c.1312	CCDS290.1	1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893243	0.91889	.	.	ENSG00000198746	ENST00000361720;ENST00000536641;ENST00000450844	T;T	0.34859	1.34;1.34	4.66	4.66	0.58398	D111/G-patch (3);	0.124924	0.53938	D	0.000043	T	0.51363	0.1670	L	0.50847	1.595	0.80722	D	1	D	0.56746	0.977	P	0.59424	0.857	T	0.51585	-0.8687	10	0.51188	T	0.08	-16.0957	17.7674	0.88482	0.0:1.0:0.0:0.0	.	438	Q96I76	GPTC3_HUMAN	Q	438;420;56	ENSP00000354645:E438Q;ENSP00000399036:E56Q	ENSP00000354645:E438Q	E	-	1	0	GPATCH3	27091538	1.000000	0.71417	0.992000	0.48379	0.864000	0.49448	7.107000	0.77047	2.431000	0.82371	0.655000	0.94253	GAG	GPATCH3	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.637	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH3	HGNC	protein_coding	OTTHUMT00000012181.1	C	NM_022078		27218951	-1	no_errors	ENST00000361720	ensembl	human	known	70_37	missense	SNP	1.000	G
GPC6	10082	genome.wustl.edu	37	13	94958240	94958240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:94958240C>T	ENST00000377047.4	+	6	1630	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	339					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CCAGGTCTTTCAGGGATGTGG	0.438																																																	0													144.0	157.0	152.0					13																	94958240		2203	4300	6503	SO:0001587	stop_gained	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1015C>T	13.37:g.94958240C>T	ENSP00000366246:p.Gln339*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K279|Q96SG5|Q96SG8|Q9H1P4	Nonsense_Mutation	SNP	pfam_Glypican	p.Q339*	ENST00000377047.4	37	c.1015	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	C	43	10.007355	0.99315	.	.	ENSG00000183098	ENST00000377047	.	.	.	5.65	5.65	0.86999	.	0.073077	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	12.9937	0.58634	0.0:0.9261:0.0:0.0739	.	.	.	.	X	339	.	ENSP00000366246:Q339X	Q	+	1	0	GPC6	93756241	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.761000	0.68801	2.653000	0.90120	0.563000	0.77884	CAG	GPC6	-	pfam_Glypican		0.438	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	C	NM_005708		94958240	+1	no_errors	ENST00000377047	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GPIHBP1	338328	genome.wustl.edu	37	8	144295729	144295729	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144295729G>C	ENST00000330824.2	+	2	160	c.85G>C	c.(85-87)Gag>Cag	p.E29Q		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	29	Poly-Glu.				cholesterol homeostasis (GO:0042632)|intracellular protein transport (GO:0006886)|positive regulation of chylomicron remnant clearance (GO:0090321)|positive regulation of lipoprotein lipase activity (GO:0051006)|protein import (GO:0017038)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|protein transmembrane transport (GO:0071806)|response to heparin (GO:0071503)|transcytosis (GO:0045056)|triglyceride homeostasis (GO:0070328)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|external side of plasma membrane (GO:0009897)|high-density lipoprotein particle (GO:0034364)	chylomicron binding (GO:0035478)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein particle binding (GO:0071813)|protein transmembrane transporter activity (GO:0008320)			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ggaagaggaagaggacgagga	0.602																																																	0													144.0	92.0	110.0					8																	144295729		2181	4272	6453	SO:0001583	missense	338328			AF088057	CCDS34954.1	8q24.3	2014-07-14	2008-02-07						24945	protein-coding gene	gene with protein product	"""endothelial cell LPL transporter"""	612757	"""GPI anchored high density lipoprotein binding protein 1"""			12496272, 17883852, 17620854, 17403372	Standard	NM_178172		Approved	LOC338328, GPI-HBP1	uc003yxu.2	Q8IV16		ENST00000330824.2:c.85G>C	8.37:g.144295729G>C	ENSP00000329266:p.Glu29Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3T2|Q86W15	Missense_Mutation	SNP	pfam_LY6_UPAR	p.E29Q	ENST00000330824.2	37	c.85	CCDS34954.1	8	.	.	.	.	.	.	.	.	.	.	G	6.007	0.369762	0.11352	.	.	ENSG00000182851	ENST00000330824	T	0.79940	-1.32	2.92	2.92	0.33932	.	0.760060	0.10485	N	0.669121	T	0.70245	0.3202	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.50270	0.636	T	0.61133	-0.7124	10	0.54805	T	0.06	-6.3755	9.5335	0.39209	0.0:0.0:1.0:0.0	.	29	Q8IV16	HDBP1_HUMAN	Q	29	ENSP00000329266:E29Q	ENSP00000329266:E29Q	E	+	1	0	GPIHBP1	144367104	0.003000	0.15002	0.005000	0.12908	0.015000	0.08874	0.952000	0.29149	1.939000	0.56221	0.305000	0.20034	GAG	GPIHBP1	-	NULL		0.602	GPIHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPIHBP1	HGNC	protein_coding	OTTHUMT00000381113.1	G	NM_178172		144295729	+1	no_errors	ENST00000330824	ensembl	human	known	70_37	missense	SNP	0.006	C
GPR116	221395	genome.wustl.edu	37	6	46827113	46827113	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:46827113G>T	ENST00000283296.7	-	17	2815	c.2527C>A	c.(2527-2529)Cct>Act	p.P843T	GPR116_ENST00000456426.2_Missense_Mutation_p.P701T|GPR116_ENST00000265417.7_Missense_Mutation_p.P843T|GPR116_ENST00000545669.1_Missense_Mutation_p.P272T|GPR116_ENST00000362015.4_Missense_Mutation_p.P843T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	843					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGACAAAGGAGGGCTATCT	0.448																																					NSCLC(59;410 1274 8751 36715 50546)												0													59.0	55.0	57.0					6																	46827113		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2527C>A	6.37:g.46827113G>T	ENSP00000283296:p.Pro843Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.P843T	ENST00000283296.7	37	c.2527	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	G	0.227	-1.024330	0.02061	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.22	-10.4	0.00318	.	1.452940	0.04445	N	0.371515	T	0.04452	0.0122	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.31485	0.325;0.006;0.091;0.029;0.091	B;B;B;B;B	0.27076	0.076;0.008;0.016;0.03;0.016	T	0.14924	-1.0455	10	0.09590	T	0.72	7.8935	1.3537	0.02178	0.4162:0.1929:0.0985:0.2924	.	272;398;843;701;843	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	T	843;843;843;701;214;843;272	ENSP00000283296:P843T;ENSP00000354563:P843T;ENSP00000412866:P701T;ENSP00000265417:P843T;ENSP00000441581:P272T	ENSP00000265417:P843T	P	-	1	0	GPR116	46935072	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.967000	0.01508	-3.104000	0.00243	-1.102000	0.02115	CCT	GPR116	-	NULL		0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	G	NM_015234		46827113	-1	no_errors	ENST00000265417	ensembl	human	known	70_37	missense	SNP	0.000	T
GPR126	57211	genome.wustl.edu	37	6	142703096	142703096	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:142703096C>G	ENST00000230173.6	+	5	1554	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.L360V|GPR126_ENST00000296932.8_Missense_Mutation_p.L360V|GPR126_ENST00000367609.3_Missense_Mutation_p.L360V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	360					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AGGTTCCTACCTGATCCCGCT	0.463																																																	0													41.0	42.0	42.0					6																	142703096		1890	4114	6004	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.1078C>G	6.37:g.142703096C>G	ENSP00000230173:p.Leu360Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L360V	ENST00000230173.6	37	c.1078	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380943	0.42207	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.84	3.11	0.35812	.	0.000000	0.49916	D	0.000134	T	0.29556	0.0737	L	0.58101	1.795	0.32645	N	0.520217	P;P;P;B	0.36010	0.532;0.532;0.532;0.397	B;B;B;B	0.36534	0.227;0.227;0.227;0.113	T	0.08827	-1.0703	10	0.37606	T	0.19	.	9.1272	0.36824	0.0:0.7769:0.0:0.2231	.	360;360;360;360	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	V	360	ENSP00000230173:L360V;ENSP00000356580:L360V;ENSP00000296932:L360V;ENSP00000356581:L360V	ENSP00000230173:L360V	L	+	1	2	GPR126	142744789	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	0.826000	0.27407	0.817000	0.34445	0.650000	0.86243	CTG	GPR126	-	NULL		0.463	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	C			142703096	+1	no_errors	ENST00000367609	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR151	134391	genome.wustl.edu	37	5	145895133	145895133	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:145895133C>T	ENST00000311104.2	-	1	620	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCACACCTTCATGATGCCTG	0.512																																					Pancreas(78;420 1386 18535 37114 49710)												0													92.0	83.0	86.0					5																	145895133		2203	4300	6503	SO:0001583	missense	134391			AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.544G>A	5.37:g.145895133C>T	ENSP00000308733:p.Glu182Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86SN8|Q8NGV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E182K	ENST00000311104.2	37	c.544	CCDS34266.1	5	.	.	.	.	.	.	.	.	.	.	C	3.383	-0.125931	0.06795	.	.	ENSG00000173250	ENST00000311104	T	0.72615	-0.67	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.474372	0.23724	N	0.045188	T	0.53997	0.1831	N	0.22421	0.69	0.23180	N	0.998167	B	0.25007	0.116	B	0.25614	0.062	T	0.32771	-0.9894	10	0.09590	T	0.72	.	12.8579	0.57897	0.0:0.9212:0.0:0.0788	.	182	Q8TDV0	GP151_HUMAN	K	182	ENSP00000308733:E182K	ENSP00000308733:E182K	E	-	1	0	GPR151	145875326	0.104000	0.21937	0.964000	0.40570	0.426000	0.31534	2.943000	0.49026	2.808000	0.96608	0.655000	0.94253	GAA	GPR151	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR151	HGNC	protein_coding	OTTHUMT00000373457.1	C	NM_194251		145895133	-1	no_errors	ENST00000311104	ensembl	human	known	70_37	missense	SNP	0.799	T
GPR153	387509	genome.wustl.edu	37	1	6310673	6310673	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:6310673C>T	ENST00000377893.2	-	5	1250	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	331						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ATGCCACCTTCCAGGCTGGTC	0.602																																																	0													16.0	13.0	14.0					1																	6310673		2174	4256	6430	SO:0001583	missense	387509			AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.991G>A	1.37:g.6310673C>T	ENSP00000367125:p.Glu331Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162	p.E331K	ENST00000377893.2	37	c.991	CCDS64.1	1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422045	0.62622	.	.	ENSG00000158292	ENST00000377893	T	0.23950	1.88	5.17	5.17	0.71159	.	0.049610	0.85682	D	0.000000	T	0.22282	0.0537	L	0.46157	1.445	0.45837	D	0.998706	P	0.41080	0.737	B	0.33846	0.171	T	0.03240	-1.1057	10	0.29301	T	0.29	-31.4199	16.1476	0.81580	0.0:1.0:0.0:0.0	.	331	Q6NV75	GP153_HUMAN	K	331	ENSP00000367125:E331K	ENSP00000367125:E331K	E	-	1	0	GPR153	6233260	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.091000	0.64505	2.399000	0.81585	0.455000	0.32223	GAA	GPR153	-	prints_GPCR_153		0.602	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR153	HGNC	protein_coding	OTTHUMT00000003717.2	C			6310673	-1	no_errors	ENST00000377893	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR155	151556	genome.wustl.edu	37	2	175311387	175311387	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:175311387C>T	ENST00000392552.2	-	12	2203	c.1965G>A	c.(1963-1965)ctG>ctA	p.L655L	GPR155_ENST00000392551.2_Silent_p.L655L|GPR155_ENST00000459996.1_5'Flank|GPR155_ENST00000295500.4_Silent_p.L655L	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	655					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CATGTCGGGTCAGTTGCTGGT	0.423																																																	0													223.0	204.0	210.0					2																	175311387		2203	4300	6503	SO:0001819	synonymous_variant	151556			AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.1965G>A	2.37:g.175311387C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Silent	SNP	pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.L655	ENST00000392552.2	37	c.1965	CCDS2259.1	2																																																																																			GPR155	-	NULL		0.423	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR155	HGNC	protein_coding	OTTHUMT00000255455.1	C	NM_152529		175311387	-1	no_errors	ENST00000295500	ensembl	human	known	70_37	silent	SNP	1.000	T
GPR156	165829	genome.wustl.edu	37	3	119886581	119886581	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:119886581G>A	ENST00000464295.1	-	10	2188	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	GPR156_ENST00000315843.3_Silent_p.F581F|GPR156_ENST00000461057.1_Silent_p.F577F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	581						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TTTGGGGGCTGAAGGCAGCAC	0.597																																																	0													34.0	39.0	37.0					3																	119886581		2200	4292	6492	SO:0001819	synonymous_variant	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1743C>T	3.37:g.119886581G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.F581	ENST00000464295.1	37	c.1743	CCDS2997.1	3																																																																																			GPR156	-	NULL		0.597	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	G	NM_153002		119886581	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	silent	SNP	0.036	A
GPR171	29909	genome.wustl.edu	37	3	150916599	150916599	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:150916599G>A	ENST00000309180.5	-	3	805	c.575C>T	c.(574-576)tCa>tTa	p.S192L	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	192					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AATGATGGCTGAGAAATTTAA	0.313																																																	0													43.0	46.0	45.0					3																	150916599		2203	4300	6503	SO:0001583	missense	29909			AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.575C>T	3.37:g.150916599G>A	ENSP00000308479:p.Ser192Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNJ4|Q8IV06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.S192L	ENST00000309180.5	37	c.575	CCDS3155.1	3	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866575	0.72065	.	.	ENSG00000174946	ENST00000309180	T	0.28666	1.6	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.23289	0.0563	N	0.08118	0	0.44798	D	0.997808	D	0.52996	0.957	P	0.50405	0.64	T	0.02868	-1.1100	10	0.02654	T	1	-16.6118	19.5182	0.95174	0.0:0.0:1.0:0.0	.	192	O14626	GP171_HUMAN	L	192	ENSP00000308479:S192L	ENSP00000308479:S192L	S	-	2	0	GPR171	152399289	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	4.904000	0.63279	2.603000	0.88011	0.655000	0.94253	TCA	GPR171	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.313	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR171	HGNC	protein_coding	OTTHUMT00000357793.1	G	NM_013308		150916599	-1	no_errors	ENST00000309180	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR176	11245	genome.wustl.edu	37	15	40093710	40093710	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:40093710C>G	ENST00000561100.1	-	3	2036	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	GPR176_ENST00000543580.1_Missense_Mutation_p.E346Q|RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000299092.3_Missense_Mutation_p.E390Q	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	391					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TACTTGGCCTCACTCTCTTCC	0.582																																																	0													208.0	191.0	197.0					15																	40093710		2203	4300	6503	SO:0001583	missense	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1171G>C	15.37:g.40093710C>G	ENSP00000453076:p.Glu391Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NXF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E391Q	ENST00000561100.1	37	c.1171	CCDS10051.1	15	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882902	0.72410	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.80738	-1.41	6.17	6.17	0.99709	.	0.339324	0.35179	N	0.003400	D	0.88328	0.6407	L	0.54323	1.7	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	D	0.85709	0.1318	10	0.41790	T	0.15	-8.6185	20.8794	0.99867	0.0:1.0:0.0:0.0	.	391	Q14439	GP176_HUMAN	Q	391;346	ENSP00000439361:E346Q	ENSP00000299092:E391Q	E	-	1	0	GPR176	37881002	0.997000	0.39634	0.979000	0.43373	0.888000	0.51559	3.560000	0.53763	2.941000	0.99782	0.655000	0.94253	GAG	GPR176	-	NULL		0.582	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR176	HGNC	protein_coding	OTTHUMT00000252117.2	C	NM_007223		40093710	-1	no_errors	ENST00000561100	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR78	27201	genome.wustl.edu	37	4	8584565	8584565	+	Intron	SNP	C	C	G	rs190840752	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:8584565C>G	ENST00000382487.4	+	2	1199				GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCACTGGCTCCCATCCTGTC	0.577																																																	0																																										SO:0001627	intron_variant	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.782+194C>G	4.37:g.8584565C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NGV3	RNA	SNP	-	NULL	ENST00000382487.4	37	NULL	CCDS3403.1	4																																																																																			GPR78	-	-		0.577	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	HGNC	protein_coding	OTTHUMT00000359201.1	C			8584565	+1	no_errors	ENST00000504255	ensembl	human	known	70_37	rna	SNP	0.007	G
GPR98	84059	genome.wustl.edu	37	5	90079012	90079012	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:90079012G>A	ENST00000405460.2	+	66	13399	c.13303G>A	c.(13303-13305)Gat>Aat	p.D4435N	GPR98_ENST00000425867.2_Missense_Mutation_p.D96N	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4435	Calx-beta 30. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTGACAGCTGATTTCATCTC	0.448																																																	0													186.0	184.0	184.0					5																	90079012		2035	4193	6228	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.13303G>A	5.37:g.90079012G>A	ENSP00000384582:p.Asp4435Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D4435N	ENST00000405460.2	37	c.13303	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438298	0.43326	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28666	1.6;1.6	6.17	5.31	0.75309	Na-Ca exchanger/integrin-beta4 (2);	0.308092	0.40728	N	0.001025	T	0.34395	0.0896	L	0.61036	1.89	0.34311	D	0.685476	B;B;B	0.14012	0.009;0.002;0.007	B;B;B	0.17433	0.018;0.004;0.016	T	0.41251	-0.9519	10	0.36615	T	0.2	.	15.8853	0.79244	0.0647:0.0:0.9353:0.0	.	96;4435;96	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	N	4435;4435;96	ENSP00000384582:D4435N;ENSP00000392618:D96N	ENSP00000296619:D4435N	D	+	1	0	GPR98	90114768	0.998000	0.40836	0.584000	0.28653	0.429000	0.31625	3.373000	0.52394	1.627000	0.50400	0.655000	0.94253	GAT	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.448	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		90079012	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.978	A
GPRIN3	285513	genome.wustl.edu	37	4	90170537	90170537	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:90170537G>C	ENST00000609438.1	-	2	1243	c.725C>G	c.(724-726)tCt>tGt	p.S242C	GPRIN3_ENST00000333209.4_Missense_Mutation_p.S242C	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	242										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGAACATCCAGATTCTCTAGT	0.542																																																	0													50.0	56.0	54.0					4																	90170537		2203	4300	6503	SO:0001583	missense	285513			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.725C>G	4.37:g.90170537G>C	ENSP00000476603:p.Ser242Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVE4	Missense_Mutation	SNP	NULL	p.S242C	ENST00000609438.1	37	c.725	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320389	0.23994	.	.	ENSG00000185477	ENST00000333209	T	0.10477	2.87	4.37	-8.32	0.00996	.	.	.	.	.	T	0.03608	0.0103	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41305	-0.9516	9	0.56958	D	0.05	4.8852	1.3763	0.02221	0.2996:0.2889:0.27:0.1414	.	242	Q6ZVF9	GRIN3_HUMAN	C	242	ENSP00000328672:S242C	ENSP00000328672:S242C	S	-	2	0	GPRIN3	90389560	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.445000	0.06845	-1.656000	0.01495	-2.140000	0.00339	TCT	GPRIN3	-	NULL		0.542	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	G	NM_198281		90170537	-1	no_errors	ENST00000333209	ensembl	human	known	70_37	missense	SNP	0.000	C
GPX7	2882	genome.wustl.edu	37	1	53072635	53072635	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:53072635C>T	ENST00000361314.4	+	2	438				GPX7_ENST00000459779.1_3'UTR	NM_015696.4	NP_056511.2	Q96SL4	GPX7_HUMAN	glutathione peroxidase 7						response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	CTGGTCTCTTCATCCCCTCAC	0.592																																																	0													136.0	125.0	129.0					1																	53072635		2203	4300	6503	SO:0001627	intron_variant	2882			AF091092	CCDS569.1	1p32	2008-02-05			ENSG00000116157	ENSG00000116157			4559	protein-coding gene	gene with protein product		615784				15294905	Standard	NM_015696		Approved	FLJ14777, GPX6, NPGPx	uc001cue.3	Q96SL4	OTTHUMG00000008322	ENST00000361314.4:c.400+18C>T	1.37:g.53072635C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95337|Q5T501	RNA	SNP	-	NULL	ENST00000361314.4	37	NULL	CCDS569.1	1																																																																																			GPX7	-	-		0.592	GPX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX7	HGNC	protein_coding	OTTHUMT00000022913.1	C	NM_015696		53072635	+1	no_errors	ENST00000459779	ensembl	human	known	70_37	rna	SNP	0.002	T
GPSM2	29899	genome.wustl.edu	37	1	109444509	109444509	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:109444509G>A	ENST00000406462.2	+	9	1668	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	GPSM2_ENST00000264126.3_Missense_Mutation_p.E299K|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	299					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAAGACTATGAAAAGGCCAT	0.373																																																	0													85.0	81.0	82.0					1																	109444509		2203	4300	6503	SO:0001583	missense	29899			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.895G>A	1.37:g.109444509G>A	ENSP00000385510:p.Glu299Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T1N8|Q6IBL7|Q8N0Z5	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E299K	ENST00000406462.2	37	c.895	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335734	0.60853	.	.	ENSG00000121957	ENST00000406462;ENST00000264126	T;T	0.79033	-1.23;-1.23	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.094732	0.64402	D	0.000001	T	0.62950	0.2470	L	0.38838	1.175	0.51012	D	0.9999	B	0.12013	0.005	B	0.21151	0.033	T	0.57112	-0.7867	10	0.32370	T	0.25	-27.2364	20.2723	0.98479	0.0:0.0:1.0:0.0	.	299	P81274	GPSM2_HUMAN	K	299	ENSP00000385510:E299K;ENSP00000264126:E299K	ENSP00000264126:E299K	E	+	1	0	GPSM2	109246032	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.876000	0.87215	2.793000	0.96121	0.563000	0.77884	GAA	GPSM2	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.373	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	G	NM_013296		109444509	+1	no_errors	ENST00000264126	ensembl	human	known	70_37	missense	SNP	1.000	A
GRAMD2	196996	genome.wustl.edu	37	15	72454718	72454718	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72454718C>T	ENST00000309731.7	-	11	970	c.957G>A	c.(955-957)ctG>ctA	p.L319L	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	319						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGAAGCAGATCCTGAAGAAAG	0.507																																																	0													79.0	68.0	72.0					15																	72454718		2199	4297	6496	SO:0001630	splice_region_variant	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.957-1G>A	15.37:g.72454718C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT68	Silent	SNP	pfam_GRAM,smart_GRAM	p.L319	ENST00000309731.7	37	c.957	CCDS32283.1	15																																																																																			GRAMD2	-	NULL		0.507	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	C	NM_001012642	Silent	72454718	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	silent	SNP	1.000	T
GRB14	2888	genome.wustl.edu	37	2	165349469	165349469	+	3'UTR	SNP	C	C	T	rs199637961	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:165349469C>T	ENST00000263915.3	-	0	2238				GRB14_ENST00000543549.1_3'UTR|GRB14_ENST00000497306.1_5'UTR	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTAATGTTTTCGCCCTTATTT	0.323													C|||	8	0.00159744	0.0023	0.0029	5008	,	,		17675	0.0		0.003	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	2888				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.*77G>A	2.37:g.165349469C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7F9|Q7Z6I1	RNA	SNP	-	NULL	ENST00000263915.3	37	NULL	CCDS2222.1	2																																																																																			GRB14	-	-		0.323	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	C			165349469	-1	no_errors	ENST00000497306	ensembl	human	known	70_37	rna	SNP	0.000	T
GRHL2	79977	genome.wustl.edu	37	8	102678907	102678907	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:102678907C>A	ENST00000251808.3	+	16	2192	c.1854C>A	c.(1852-1854)ttC>ttA	p.F618L	GRHL2_ENST00000395927.1_Missense_Mutation_p.F602L	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	618					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGAGGGCTTCAAGGTCACGC	0.552																																																	0													204.0	175.0	185.0					8																	102678907		2203	4300	6503	SO:0001583	missense	79977			AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1854C>A	8.37:g.102678907C>A	ENSP00000251808:p.Phe618Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	pfam_CP2	p.F618L	ENST00000251808.3	37	c.1854	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209129	0.58343	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.11495	2.77;2.77	5.57	5.57	0.84162	.	0.273076	0.42964	D	0.000639	T	0.09598	0.0236	N	0.16656	0.425	0.50632	D	0.999888	B	0.06786	0.001	B	0.08055	0.003	T	0.20140	-1.0284	10	0.44086	T	0.13	-24.2754	19.5348	0.95247	0.0:1.0:0.0:0.0	.	618	Q6ISB3	GRHL2_HUMAN	L	618;602;618	ENSP00000251808:F618L;ENSP00000379260:F602L	ENSP00000251808:F618L	F	+	3	2	GRHL2	102748083	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.355000	0.52262	2.619000	0.88677	0.650000	0.86243	TTC	GRHL2	-	NULL		0.552	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	HGNC	protein_coding	OTTHUMT00000313882.1	C	NM_024915		102678907	+1	no_errors	ENST00000251808	ensembl	human	known	70_37	missense	SNP	1.000	A
GRHL3	57822	genome.wustl.edu	37	1	24664502	24664502	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:24664502C>T	ENST00000350501.5	+	7	988	c.861C>T	c.(859-861)ttC>ttT	p.F287F	GRHL3_ENST00000356046.2_Silent_p.F241F|GRHL3_ENST00000236255.4_Silent_p.F292F|GRHL3_ENST00000342072.4_Silent_p.F194F|GRHL3_ENST00000361548.4_Silent_p.F287F	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	287					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGGTTGTCTTCGACAATGAGA	0.572																																																	0													137.0	125.0	129.0					1																	24664502		2203	4300	6503	SO:0001819	synonymous_variant	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.861C>T	1.37:g.24664502C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.F287	ENST00000350501.5	37	c.861	CCDS252.2	1																																																																																			GRHL3	-	pfam_CP2		0.572	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	C	NM_021180		24664502	+1	no_errors	ENST00000350501	ensembl	human	known	70_37	silent	SNP	0.995	T
GRIA3	2892	genome.wustl.edu	37	X	122387269	122387269	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:122387269C>G	ENST00000371251.1	+	3	436	c.384C>G	c.(382-384)agC>agG	p.S128R	GRIA3_ENST00000264357.5_Missense_Mutation_p.S128R|GRIA3_ENST00000542149.1_Missense_Mutation_p.S128R|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.S128R|GRIA3_ENST00000541091.1_Missense_Mutation_p.S112R			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	128					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)	TTACGCCTAGCTTCCCCACTG	0.522																																																	0													147.0	114.0	125.0					X																	122387269		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.384C>G	X.37:g.122387269C>G	ENSP00000360297:p.Ser128Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	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.S128R	ENST00000371251.1	37	c.384	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263507	0.59431	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.52	3.76	0.43208	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87382	0.6163	L	0.55743	1.74	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83291	-0.0033	10	0.06625	T	0.88	.	10.6669	0.45736	0.0:0.841:0.0:0.159	.	112;128;128	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	R	128;128;128;128;112	ENSP00000264357:S128R;ENSP00000446146:S128R;ENSP00000360302:S128R;ENSP00000360297:S128R;ENSP00000446440:S112R	ENSP00000264357:S128R	S	+	3	2	GRIA3	122214950	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.720000	0.38022	0.612000	0.30071	0.513000	0.50165	AGC	GRIA3	-	pfam_ANF_lig-bd_rcpt		0.522	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122387269	+1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIA3	2892	genome.wustl.edu	37	X	122387377	122387377	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:122387377C>T	ENST00000371251.1	+	3	544	c.492C>T	c.(490-492)ctC>ctT	p.L164L	GRIA3_ENST00000264357.5_Silent_p.L164L|GRIA3_ENST00000542149.1_Silent_p.L164L|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Silent_p.L164L|GRIA3_ENST00000541091.1_Silent_p.L148L			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	164					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)	TTGTGTACCTCTATGACACAG	0.468																																																	0													82.0	72.0	76.0					X																	122387377		2203	4300	6503	SO:0001819	synonymous_variant	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.492C>T	X.37:g.122387377C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Silent	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.L164	ENST00000371251.1	37	c.492	CCDS14604.1	X																																																																																			GRIA3	-	pfam_ANF_lig-bd_rcpt		0.468	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122387377	+1	no_errors	ENST00000264357	ensembl	human	known	70_37	silent	SNP	0.993	T
GRIA4	2893	genome.wustl.edu	37	11	105774694	105774694	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:105774694G>A	ENST00000530497.1	+	7	1040	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	GRIA4_ENST00000393127.2_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	347					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)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACATGGAGAGGACACTCAAA	0.398																																																	0													83.0	89.0	87.0					11																	105774694		2202	4299	6501	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1040G>A	11.37:g.105774694G>A	ENSP00000435775:p.Arg347Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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.R347K	ENST00000530497.1	37	c.1040	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.350140	0.95830	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	L	0.59436	1.845	0.80722	D	1	B;P;P	0.51057	0.005;0.94;0.941	B;D;P	0.70935	0.015;0.971;0.859	D	0.89390	0.3688	10	0.59425	D	0.04	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	347;347;347	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	K	347	ENSP00000376833:R347K;ENSP00000282499:R347K;ENSP00000376835:R347K;ENSP00000415551:R347K;ENSP00000435775:R347K;ENSP00000432180:R347K	ENSP00000282499:R347K	R	+	2	0	GRIA4	105279904	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	AGG	GRIA4	-	pfam_ANF_lig-bd_rcpt		0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	G			105774694	+1	no_errors	ENST00000282499	ensembl	human	known	70_37	missense	SNP	1.000	A
GRIK1	2897	genome.wustl.edu	37	21	30925920	30925920	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:30925920C>G	ENST00000399907.1	-	17	3124	c.2713G>C	c.(2713-2715)Gag>Cag	p.E905Q	GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.E890Q|GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.E907Q|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000399913.1_Intron	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	905					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CCTCTCTCCTCTCGAATTAAT	0.353																																																	0													110.0	110.0	110.0					21																	30925920		1832	4087	5919	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2713G>C	21.37:g.30925920C>G	ENSP00000382791:p.Glu905Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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.E907Q	ENST00000399907.1	37	c.2719	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020267	0.54576	.	.	ENSG00000171189	ENST00000399907;ENST00000399909;ENST00000309434	T;T;T	0.12147	2.73;2.71;2.73	5.4	5.4	0.78164	.	.	.	.	.	T	0.06690	0.0171	N	0.08118	0	0.36320	D	0.858189	B	0.34214	0.442	B	0.27076	0.076	T	0.12293	-1.0553	9	0.02654	T	1	.	18.9642	0.92689	0.0:1.0:0.0:0.0	.	905	P39086	GRIK1_HUMAN	Q	905;890;907	ENSP00000382791:E905Q;ENSP00000382793:E890Q;ENSP00000311646:E907Q	ENSP00000311646:E907Q	E	-	1	0	GRIK1	29847791	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.770000	0.74990	2.805000	0.96524	0.655000	0.94253	GAG	GRIK1	-	NULL		0.353	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	C			30925920	-1	no_errors	ENST00000309434	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIN2B	2904	genome.wustl.edu	37	12	13716489	13716489	+	Missense_Mutation	SNP	G	G	A	rs75670883		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:13716489G>A	ENST00000609686.1	-	13	3892	c.3683C>T	c.(3682-3684)aCg>aTg	p.T1228M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1228					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACCCGTCACCGTCGTGGAGTA	0.607																																																	0													72.0	77.0	76.0					12																	13716489		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3683C>T	12.37:g.13716489G>A	ENSP00000477455:p.Thr1228Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T1228M	ENST00000609686.1	37	c.3683	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	G	0.251	-1.006250	0.02112	.	.	ENSG00000150086	ENST00000279593	T	0.11712	2.75	5.3	3.48	0.39840	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.881635	0.10189	N	0.704824	T	0.07458	0.0188	N	0.08118	0	0.09310	N	1	P	0.34977	0.478	B	0.38803	0.282	T	0.42965	-0.9420	10	0.35671	T	0.21	.	10.2249	0.43220	0.1537:0.0:0.8463:0.0	.	1228	Q13224	NMDE2_HUMAN	M	1228	ENSP00000279593:T1228M	ENSP00000279593:T1228M	T	-	2	0	GRIN2B	13607756	0.385000	0.25172	0.003000	0.11579	0.009000	0.06853	3.946000	0.56644	0.731000	0.32448	0.655000	0.94253	ACG	GRIN2B	-	pfam_NMDAR2_C		0.607	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	G			13716489	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	missense	SNP	0.019	A
GRIP1	23426	genome.wustl.edu	37	12	66770815	66770815	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66770815C>G	ENST00000398016.3	-	21	2672	c.2604G>C	c.(2602-2604)ttG>ttC	p.L868F	GRIP1_ENST00000359742.4_Missense_Mutation_p.L920F|GRIP1_ENST00000286445.7_Intron	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATGTTTCTCAAAGACACAC	0.393																																																	0													124.0	124.0	124.0					12																	66770815		1863	4096	5959	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2604G>C	12.37:g.66770815C>G	ENSP00000381098:p.Leu868Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L920F	ENST00000398016.3	37	c.2760	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	11.72	1.721822	0.30503	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000540433	T;T;T	0.78003	-1.14;-1.14;-1.14	5.71	5.71	0.89125	.	0.201340	0.33670	N	0.004669	T	0.67515	0.2901	L	0.29908	0.895	0.80722	D	1	P	0.36837	0.571	B	0.35607	0.206	T	0.65709	-0.6102	9	.	.	.	-4.5122	15.3567	0.74431	0.0:0.8611:0.1389:0.0	.	868	Q9Y3R0-3	.	F	868;920;812	ENSP00000381098:L868F;ENSP00000352780:L920F;ENSP00000446024:L812F	.	L	-	3	2	GRIP1	65057082	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.511000	0.60462	2.699000	0.92147	0.655000	0.94253	TTG	GRIP1	-	NULL		0.393	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66770815	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIP1	23426	genome.wustl.edu	37	12	66788034	66788034	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66788034C>T	ENST00000398016.3	-	16	1995	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	GRIP1_ENST00000359742.4_Missense_Mutation_p.D695N|GRIP1_ENST00000286445.7_Missense_Mutation_p.D695N|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ATTATAGGATCAAACGGCTCT	0.443																																																	0													129.0	125.0	126.0					12																	66788034		1825	4083	5908	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1927G>A	12.37:g.66788034C>T	ENSP00000381098:p.Asp643Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D695N	ENST00000398016.3	37	c.2083	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003848	0.93287	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74	4.2	4.2	0.49525	PDZ/DHR/GLGF (4);	0.190459	0.53938	D	0.000051	T	0.29749	0.0743	L	0.28192	0.835	0.80722	D	1	P;P;P;P	0.42409	0.511;0.537;0.659;0.779	B;P;P;P	0.50659	0.187;0.464;0.477;0.647	T	0.02173	-1.1201	9	.	.	.	-17.6515	17.8456	0.88729	0.0:1.0:0.0:0.0	.	643;695;643;695	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	N	643;695;695;643;587;535	ENSP00000381098:D643N;ENSP00000352780:D695N;ENSP00000286445:D695N;ENSP00000446047:D643N;ENSP00000446024:D587N;ENSP00000446011:D535N	.	D	-	1	0	GRIP1	65074301	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.609000	0.82925	2.644000	0.89710	0.655000	0.94253	GAT	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66788034	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	T
GRIP1	23426	genome.wustl.edu	37	12	66788046	66788046	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66788046C>G	ENST00000398016.3	-	16	1983	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	GRIP1_ENST00000359742.4_Missense_Mutation_p.E691Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.E691Q|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AACGGCTCTTCAGTTCCTGAA	0.423																																																	0													123.0	118.0	120.0					12																	66788046		1820	4085	5905	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1915G>C	12.37:g.66788046C>G	ENSP00000381098:p.Glu639Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E691Q	ENST00000398016.3	37	c.2071	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900357	0.92035	.	.	ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	4.2	4.2	0.49525	PDZ/DHR/GLGF (4);	0.046710	0.85682	D	0.000000	T	0.46678	0.1405	L	0.55103	1.725	0.80722	D	1	D;P;D;D	0.89917	0.998;0.886;1.0;1.0	D;P;D;D	0.91635	0.963;0.806;0.996;0.999	T	0.32268	-0.9913	9	.	.	.	-26.8676	17.8456	0.88729	0.0:1.0:0.0:0.0	.	639;691;639;691	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.;GRIP1_HUMAN;.;.	Q	639;691;691;639;583;531	ENSP00000381098:E639Q;ENSP00000352780:E691Q;ENSP00000286445:E691Q;ENSP00000446047:E639Q;ENSP00000446024:E583Q;ENSP00000446011:E531Q	.	E	-	1	0	GRIP1	65074313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.609000	0.82925	2.644000	0.89710	0.655000	0.94253	GAA	GRIP1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.423	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66788046	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	G
GRIP1	23426	genome.wustl.edu	37	12	66788130	66788130	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66788130C>G	ENST00000398016.3	-	16	1899	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	GRIP1_ENST00000359742.4_Missense_Mutation_p.E663Q|GRIP1_ENST00000286445.7_Missense_Mutation_p.E663Q|GRIP1_ENST00000542021.1_5'UTR	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTTCTTGCTCATCTGTAATA	0.398																																																	0													52.0	48.0	49.0					12																	66788130		1817	4084	5901	SO:0001583	missense	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1831G>C	12.37:g.66788130C>G	ENSP00000381098:p.Glu611Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E663Q	ENST00000398016.3	37	c.1987	CCDS41807.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.934699|4.934699	0.92458|0.92458	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.24350|.	1.86;1.87;1.87;1.86;1.94;1.98|.	4.2|4.2	4.2|4.2	0.49525|0.49525	PDZ/DHR/GLGF (1);|.	0.151821|.	0.56097|.	D|.	0.000021|.	T|T	0.73590|0.73590	0.3606|0.3606	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.47484|.	0.853;0.69;0.896;0.696|.	P;B;P;P|.	0.51135|.	0.458;0.359;0.66;0.541|.	T|T	0.73202|0.73202	-0.4057|-0.4057	9|5	.|.	.|.	.|.	-27.0111|-27.0111	17.8456|17.8456	0.88729|0.88729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	611;663;611;663|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	Q|I	611;663;663;611;555;503|477	ENSP00000381098:E611Q;ENSP00000352780:E663Q;ENSP00000286445:E663Q;ENSP00000446047:E611Q;ENSP00000446024:E555Q;ENSP00000446011:E503Q|.	.|.	E|M	-|-	1|3	0|0	GRIP1|GRIP1	65074397|65074397	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	7.609000|7.609000	0.82925|0.82925	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GAG|ATG	GRIP1	-	superfamily_PDZ		0.398	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	HGNC	protein_coding	OTTHUMT00000401975.2	C			66788130	-1	no_errors	ENST00000359742	ensembl	human	known	70_37	missense	SNP	1.000	G
GRK4	2868	genome.wustl.edu	37	4	2990493	2990493	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:2990493G>A	ENST00000398052.4	+	3	531	c.188G>A	c.(187-189)gGa>gAa	p.G63E	GRK4_ENST00000345167.6_Missense_Mutation_p.G31E|GRK4_ENST00000398051.4_Missense_Mutation_p.G31E|GRK4_ENST00000504933.1_Missense_Mutation_p.G63E	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	63	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACCGATAGGAAGACGTCTC	0.428																																																	0													137.0	136.0	137.0					4																	2990493		2203	4300	6503	SO:0001583	missense	2868				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.188G>A	4.37:g.2990493G>A	ENSP00000381129:p.Gly63Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.G63E	ENST00000398052.4	37	c.188	CCDS33946.1	4	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308621	0.81247	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.03982	3.74;3.74;3.74;3.74	5.56	4.72	0.59763	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	U	0.000000	T	0.25901	0.0631	M	0.90595	3.13	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;0.984;1.0;1.0	T	0.05053	-1.0909	10	0.72032	D	0.01	-26.1628	11.9584	0.52995	0.0845:0.0:0.9155:0.0	.	31;31;63;63	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	E	31;63;31;63	ENSP00000381128:G31E;ENSP00000381129:G63E;ENSP00000264764:G31E;ENSP00000427445:G63E	ENSP00000264764:G31E	G	+	2	0	GRK4	2960291	1.000000	0.71417	0.982000	0.44146	0.985000	0.73830	8.438000	0.90305	1.334000	0.45468	0.573000	0.79308	GGA	GRK4	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.428	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	G	NM_005307		2990493	+1	no_errors	ENST00000398052	ensembl	human	known	70_37	missense	SNP	1.000	A
GSDMA	284110	genome.wustl.edu	37	17	38121935	38121935	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:38121935G>C	ENST00000301659.4	+	2	113		c.e2-1			NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A						apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CACCTCCACAGAGACAATGAC	0.592																																																	0													38.0	40.0	39.0					17																	38121935		1928	4133	6061	SO:0001630	splice_region_variant	284110			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.-5-1G>C	17.37:g.38121935G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MC5|Q86VE7|Q8N1M6	Splice_Site	SNP	-	e1-1	ENST00000301659.4	37	c.1-1	CCDS45669.1	17																																																																																			GSDMA	-	-		0.592	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1	G	NM_178171	Intron	38121935	+1	no_errors	ENST00000301659	ensembl	human	known	70_37	splice_site	SNP	0.886	C
GSTA3	2940	genome.wustl.edu	37	6	52770548	52770548	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:52770548C>T	ENST00000211122.3	-	2	150	c.85G>A	c.(85-87)Gag>Aag	p.E29K	GSTA3_ENST00000370968.1_Intron	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	29	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	GAACATACCTCCACTCCAGCT	0.463																																																	0													86.0	79.0	82.0					6																	52770548		2203	4300	6503	SO:0001583	missense	2940			AF020919	CCDS4947.1	6p12.2	2012-06-21	2008-11-26		ENSG00000174156	ENSG00000174156	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4628	protein-coding gene	gene with protein product		605449	"""glutathione S-transferase A3"""			8307579, 9480897	Standard	NM_000847		Approved		uc003pbb.3	Q16772	OTTHUMG00000014865	ENST00000211122.3:c.85G>A	6.37:g.52770548C>T	ENSP00000211122:p.Glu29Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43468|Q068V6|Q8WWA8|Q9H415	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.E29K	ENST00000211122.3	37	c.85	CCDS4947.1	6	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571375	0.45798	.	.	ENSG00000174156	ENST00000211122	T	0.15256	2.44	3.14	3.14	0.36123	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.129657	0.50627	D	0.000116	T	0.15176	0.0366	L	0.61218	1.895	0.36301	D	0.857024	P	0.39920	0.695	B	0.43701	0.428	T	0.06320	-1.0833	10	0.62326	D	0.03	.	15.1445	0.72641	0.0:1.0:0.0:0.0	.	29	Q16772	GSTA3_HUMAN	K	29	ENSP00000211122:E29K	ENSP00000211122:E29K	E	-	1	0	GSTA3	52878507	0.993000	0.37304	0.725000	0.30721	0.870000	0.49936	3.175000	0.50855	2.077000	0.62373	0.655000	0.94253	GAG	GSTA3	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha		0.463	GSTA3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA3	HGNC	protein_coding	OTTHUMT00000040933.1	C			52770548	-1	no_errors	ENST00000211122	ensembl	human	known	70_37	missense	SNP	0.970	T
POMGNT2	84892	genome.wustl.edu	37	3	43122824	43122824	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:43122824C>T	ENST00000344697.2	-	2	445	c.100G>A	c.(100-102)Gag>Aag	p.E34K	POMGNT2_ENST00000441964.1_Missense_Mutation_p.E34K	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	34					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										GCCAGCTCCTCCTCCAGTGTG	0.647																																																	0													39.0	31.0	34.0					3																	43122824		2203	4300	6503	SO:0001583	missense	84892			AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.100G>A	3.37:g.43122824C>T	ENSP00000344125:p.Glu34Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWC3|Q96SY3	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3	p.E34K	ENST00000344697.2	37	c.100	CCDS2709.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226654	0.79576	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.80393	-1.37;-1.37	5.75	5.75	0.90469	.	0.050059	0.85682	D	0.000000	T	0.77857	0.4193	M	0.65975	2.015	0.80722	D	1	P	0.40000	0.698	B	0.28553	0.091	T	0.81488	-0.0910	10	0.72032	D	0.01	-21.3947	18.9302	0.92561	0.0:1.0:0.0:0.0	.	34	Q8NAT1	AGO61_HUMAN	K	34	ENSP00000408992:E34K;ENSP00000344125:E34K	ENSP00000344125:E34K	E	-	1	0	C3orf39	43097828	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	7.813000	0.86123	2.714000	0.92807	0.561000	0.74099	GAG	GTDC2	-	NULL		0.647	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC2	HGNC	protein_coding	OTTHUMT00000256643.1	C	NM_032806		43122824	-1	no_errors	ENST00000344697	ensembl	human	known	70_37	missense	SNP	1.000	T
GTPBP1	9567	genome.wustl.edu	37	22	39117746	39117746	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:39117746G>C	ENST00000216044.5	+	5	1067		c.e5-1			NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1						GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGTTGGGGCAGGTGGGCAGCA	0.537																																																	0													124.0	101.0	109.0					22																	39117746		2203	4300	6503	SO:0001630	splice_region_variant	9567			U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.835-1G>C	22.37:g.39117746G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IC67	Splice_Site	SNP	-	e5-1	ENST00000216044.5	37	c.835-1	CCDS13977.2	22	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740387	0.89573	.	.	ENSG00000100226	ENST00000216044	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2242	0.93812	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GTPBP1	37447692	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.471000	0.97696	2.553000	0.86117	0.591000	0.81541	.	GTPBP1	-	-		0.537	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP1	HGNC	protein_coding	OTTHUMT00000075532.1	G	NM_004286	Intron	39117746	+1	no_errors	ENST00000216044	ensembl	human	known	70_37	splice_site	SNP	1.000	C
MTG2	26164	genome.wustl.edu	37	20	60772729	60772729	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:60772729G>A	ENST00000370823.3	+	4	370				MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR|MTG2_ENST00000536470.1_Intron	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2						GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										AGCACTTTTTGAAGGAAAATA	0.333																																																	0																																										SO:0001627	intron_variant	26164			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.353-179G>A	20.37:g.60772729G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	RNA	SNP	-	NULL	ENST00000370823.3	37	NULL	CCDS13492.1	20																																																																																			GTPBP5	-	-		0.333	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP5	HGNC	protein_coding	OTTHUMT00000079989.1	G	NM_015666		60772729	+1	no_errors	ENST00000461411	ensembl	human	known	70_37	rna	SNP	0.017	A
GUCA1A	2978	genome.wustl.edu	37	6	42141390	42141390	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42141390G>A	ENST00000394237.1	+	3	1015	c.39G>A	c.(37-39)ctG>ctA	p.L13L	GUCA1A_ENST00000541991.1_Silent_p.L13L|GUCA1A_ENST00000053469.4_Silent_p.L13L|GUCA1A_ENST00000372958.1_Silent_p.L13L			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	13					phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGAGGAGCTGAGCAGCACCG	0.592																																																	0													143.0	116.0	125.0					6																	42141390		2203	4300	6503	SO:0001819	synonymous_variant	2978				CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.39G>A	6.37:g.42141390G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWT4|Q7Z6T1|Q9NU14	Silent	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.L13	ENST00000394237.1	37	c.39	CCDS4864.1	6																																																																																			GUCA1A	-	prints_Recoverin		0.592	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCA1A	HGNC	protein_coding	OTTHUMT00000316582.1	G			42141390	+1	no_errors	ENST00000053469	ensembl	human	known	70_37	silent	SNP	1.000	A
GUCY1A3	2982	genome.wustl.edu	37	4	156632396	156632396	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:156632396C>G	ENST00000296518.7	+	6	1288	c.1079C>G	c.(1078-1080)tCt>tGt	p.S360C	GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S360C|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S360C|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S360C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S360C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S102C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S360C			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	360					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGAAAAAATCTTCAAGGGTA	0.343																																																	0													57.0	57.0	57.0					4																	156632396		2111	4267	6378	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1079C>G	4.37:g.156632396C>G	ENSP00000296518:p.Ser360Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.S360C	ENST00000296518.7	37	c.1079	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277669	0.80692	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-2.43;-2.43	5.76	5.76	0.90799	Haem NO binding associated (1);	0.093387	0.47852	D	0.000211	D	0.91862	0.7424	L	0.49126	1.545	0.44937	D	0.997955	P;P;P	0.39071	0.658;0.658;0.658	P;P;P	0.51918	0.684;0.684;0.684	D	0.91054	0.4880	10	0.59425	D	0.04	.	20.3219	0.98684	0.0:1.0:0.0:0.0	.	360;360;360	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	C	360;360;360;360;102;360;360	ENSP00000424361:S360C;ENSP00000421493:S360C;ENSP00000426968:S360C;ENSP00000412201:S360C;ENSP00000377418:S102C;ENSP00000296518:S360C;ENSP00000426040:S360C	ENSP00000296518:S360C	S	+	2	0	GUCY1A3	156851846	0.804000	0.28969	0.952000	0.39060	0.995000	0.86356	3.183000	0.50918	2.876000	0.98609	0.643000	0.83706	TCT	GUCY1A3	-	pfam_Haem_no_assoc-bd		0.343	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	HGNC	protein_coding	OTTHUMT00000365786.2	C			156632396	+1	no_errors	ENST00000296518	ensembl	human	known	70_37	missense	SNP	1.000	G
GUK1	2987	genome.wustl.edu	37	1	228333448	228333448	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:228333448C>G	ENST00000366718.1	+	2	539				GUK1_ENST00000312726.4_Intron|GUK1_ENST00000366716.1_Intron|GUK1_ENST00000366726.1_Intron|GUK1_ENST00000366730.1_Intron|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366723.1_Intron|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366722.1_Intron|GUK1_ENST00000391865.3_Intron|GUK1_ENST00000366721.1_Intron	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				TGTCCGAACTCTTGCACACTC	0.592																																																	0																																										SO:0001627	intron_variant	2987			BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.112+123C>G	1.37:g.228333448C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANH1	RNA	SNP	-	NULL	ENST00000366718.1	37	NULL	CCDS1568.1	1																																																																																			GUK1	-	-		0.592	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	GUK1	HGNC	protein_coding	OTTHUMT00000095944.1	C	NM_000858		228333448	+1	no_errors	ENST00000470040	ensembl	human	known	70_37	rna	SNP	0.008	G
GUK1	2987	genome.wustl.edu	37	1	228336139	228336139	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:228336139G>C	ENST00000366718.1	+	7	970	c.543G>C	c.(541-543)ctG>ctC	p.L181L	GUK1_ENST00000312726.4_Silent_p.L181L|GUK1_ENST00000366716.1_Silent_p.L181L|GUK1_ENST00000366726.1_Silent_p.L181L|GUK1_ENST00000366730.1_Silent_p.L181L|GJC2_ENST00000366714.2_5'Flank|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366723.1_Nonstop_Mutation_p.*219S|GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366722.1_Silent_p.L179L|GUK1_ENST00000391865.3_Silent_p.L202L|GUK1_ENST00000366721.1_Silent_p.L183L	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	181	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				ATP metabolic process (GO:0046034)|dATP metabolic process (GO:0046060)|dGDP biosynthetic process (GO:0006185)|dGMP metabolic process (GO:0046054)|drug metabolic process (GO:0017144)|GDP biosynthetic process (GO:0046711)|GDP-mannose metabolic process (GO:0019673)|glycoprotein transport (GO:0034436)|GMP metabolic process (GO:0046037)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleotide metabolic process (GO:0006163)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				ACGCAGAGCTGAAGGAGGCGC	0.637																																																	0													45.0	43.0	44.0					1																	228336139		2203	4300	6503	SO:0001819	synonymous_variant	2987			BC006249	CCDS1568.1, CCDS53481.1, CCDS55689.1	1q32-q41	2012-10-02			ENSG00000143774	ENSG00000143774	2.7.4.8		4693	protein-coding gene	gene with protein product		139270				8647247	Standard	NM_000858		Approved		uc021pkf.1	Q16774	OTTHUMG00000039503	ENST00000366718.1:c.543G>C	1.37:g.228336139G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANH1	Nonstop_Mutation	SNP	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin,tigrfam_Guanylate_kinase_sub	p.*219S	ENST00000366718.1	37	c.656	CCDS1568.1	1	.	.	.	.	.	.	.	.	.	.	g	11.42	1.634126	0.29068	.	.	ENSG00000143774	ENST00000366723	.	.	.	4.52	0.36	0.16097	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0389	0.25008	0.1523:0.2655:0.5823:0.0	.	.	.	.	S	219	.	.	X	+	2	2	GUK1	226402762	1.000000	0.71417	0.433000	0.26760	0.592000	0.36648	1.163000	0.31798	-0.086000	0.12550	0.298000	0.19748	TGA	GUK1	-	NULL		0.637	GUK1-021	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	GUK1	HGNC	protein_coding	OTTHUMT00000095944.1	G	NM_000858		228336139	+1	no_errors	ENST00000366723	ensembl	human	known	70_37	nonstop	SNP	0.889	C
GXYLT1	283464	genome.wustl.edu	37	12	42503418	42503418	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:42503418C>T	ENST00000398675.3	-	4	794	c.562G>A	c.(562-564)Gag>Aag	p.E188K	GXYLT1_ENST00000280876.6_Missense_Mutation_p.E157K	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	188					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TTTTTCCACTCTGCTGCATTC	0.313																																																	0													32.0	32.0	32.0					12																	42503418		1809	4063	5872	SO:0001583	missense	283464			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.562G>A	12.37:g.42503418C>T	ENSP00000381666:p.Glu188Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E188K	ENST00000398675.3	37	c.562	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367380	0.82463	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.21361	2.01;2.01	5.53	5.53	0.82687	.	0.047747	0.85682	D	0.000000	T	0.36991	0.0987	M	0.88310	2.945	0.80722	D	1	B;B	0.26445	0.123;0.149	B;B	0.31614	0.127;0.133	T	0.29610	-1.0006	10	0.21014	T	0.42	2.9845	19.6556	0.95837	0.0:1.0:0.0:0.0	.	157;188	Q4G148-2;Q4G148	.;GXLT1_HUMAN	K	188;157	ENSP00000381666:E188K;ENSP00000280876:E157K	ENSP00000280876:E157K	E	-	1	0	GXYLT1	40789685	1.000000	0.71417	0.384000	0.26145	0.937000	0.57800	7.604000	0.82830	2.882000	0.98803	0.655000	0.94253	GAG	GXYLT1	-	pfam_Glyco_trans_8		0.313	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	C	XM_290597		42503418	-1	no_errors	ENST00000398675	ensembl	human	known	70_37	missense	SNP	1.000	T
HAP1	9001	genome.wustl.edu	37	17	39890702	39890702	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:39890702G>A	ENST00000310778.5	-	1	194	c.185C>T	c.(184-186)tCg>tTg	p.S62L	HAP1_ENST00000341193.5_Missense_Mutation_p.S62L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.S62L|HAP1_ENST00000393939.2_Missense_Mutation_p.S62L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	62					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCGGGCTTCCGAGAGGAACTG	0.706																																																	0													21.0	21.0	21.0					17																	39890702		2197	4290	6487	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.185C>T	17.37:g.39890702G>A	ENSP00000309392:p.Ser62Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.S62L	ENST00000310778.5	37	c.185		17	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898176	0.52227	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.06687	3.27;3.5;3.4;3.28	2.05	1.07	0.20283	.	.	.	.	.	T	0.07279	0.0184	N	0.24115	0.695	0.09310	N	1	B;B;D;D	0.60575	0.059;0.059;0.988;0.98	B;B;P;B	0.48270	0.011;0.011;0.572;0.368	T	0.31194	-0.9952	9	0.59425	D	0.04	.	4.5185	0.11947	0.1933:0.0:0.8067:0.0	.	62;62;62;62	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	62	ENSP00000377513:S62L;ENSP00000309392:S62L;ENSP00000334002:S62L;ENSP00000343170:S62L	ENSP00000309392:S62L	S	-	2	0	HAP1	37144228	0.020000	0.18652	0.001000	0.08648	0.003000	0.03518	1.585000	0.36600	0.427000	0.26145	0.467000	0.42956	TCG	HAP1	-	NULL		0.706	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	G	NM_003949		39890702	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	0.001	A
HAUS4	54930	genome.wustl.edu	37	14	23416876	23416876	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23416876G>C	ENST00000206474.7	-	8	1025	c.773C>G	c.(772-774)tCc>tGc	p.S258C	HAUS4_ENST00000347758.2_Missense_Mutation_p.S132C|HAUS4_ENST00000397409.4_Missense_Mutation_p.S132C|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.5_ENST00000555074.1_Missense_Mutation_p.I87M|HAUS4_ENST00000490506.1_Missense_Mutation_p.S134C|HAUS4_ENST00000555367.1_Missense_Mutation_p.S213C|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Missense_Mutation_p.S258C|HAUS4_ENST00000555986.1_Missense_Mutation_p.S213C|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.S213C			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	258					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GTCTAGCTCGGATTGAGTCTT	0.522																																																	0													100.0	92.0	94.0					14																	23416876		2203	4300	6503	SO:0001583	missense	54930			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.773C>G	14.37:g.23416876G>C	ENSP00000206474:p.Ser258Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	NULL	p.S258C	ENST00000206474.7	37	c.773	CCDS9580.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187256	0.78789	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000347758;ENST00000397409;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.25	5.25	0.73442	.	0.176511	0.50627	D	0.000105	T	0.74627	0.3741	L	0.50333	1.59	0.39960	D	0.974653	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.992;0.997	T	0.77590	-0.2531	9	0.66056	D	0.02	-7.6098	15.813	0.78578	0.0:0.0:1.0:0.0	.	213;132;258	Q9H6D7-4;Q9H6D7-2;Q9H6D7	.;.;HAUS4_HUMAN	C	258;134;258;213;132;132;213;213;258;35	.	ENSP00000206474:S258C	S	-	2	0	RP11-298I3.5;HAUS4	22486716	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	4.041000	0.57339	2.463000	0.83235	0.585000	0.79938	TCC	HAUS4	-	NULL		0.522	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	G			23416876	-1	no_errors	ENST00000206474	ensembl	human	known	70_37	missense	SNP	0.994	C
HCN3	57657	genome.wustl.edu	37	1	155258282	155258282	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155258282C>T	ENST00000368358.3	+	0	2361				HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3						potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGCCTTAGTTCTTGGGGTGCA	0.577																																																	0													23.0	30.0	28.0					1																	155258282		2194	4292	6486	SO:0001624	3_prime_UTR_variant	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.*28C>T	1.37:g.155258282C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	RNA	SNP	-	NULL	ENST00000368358.3	37	NULL	CCDS1108.1	1																																																																																			HCN3	-	-		0.577	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	HGNC	protein_coding	OTTHUMT00000087388.1	C	NM_020897		155258282	+1	no_errors	ENST00000496230	ensembl	human	known	70_37	rna	SNP	0.227	T
HDAC11	79885	genome.wustl.edu	37	3	13545614	13545614	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:13545614G>A	ENST00000295757.3	+	9	853	c.670G>A	c.(670-672)Gag>Aag	p.E224K	HDAC11_ENST00000402271.1_Missense_Mutation_p.E145K|HDAC11_ENST00000433119.1_Nonsense_Mutation_p.W181*|HDAC11_ENST00000405025.1_Nonsense_Mutation_p.W63*|HDAC11_ENST00000404548.1_Nonsense_Mutation_p.W91*|HDAC11_ENST00000446613.2_Missense_Mutation_p.E32K|HDAC11_ENST00000402259.1_Missense_Mutation_p.E58K|HDAC11_ENST00000522202.1_Missense_Mutation_p.E173K|HDAC11_ENST00000404040.1_Missense_Mutation_p.E124K|HDAC11_ENST00000437379.2_Missense_Mutation_p.E196K	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	224	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGGAAGGTGGAGCTGGAGTG	0.542																																																	0													81.0	76.0	77.0					3																	13545614		2203	4300	6503	SO:0001583	missense	79885			AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.670G>A	3.37:g.13545614G>A	ENSP00000295757:p.Glu224Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Nonsense_Mutation	SNP	pfam_His_deacetylse_dom	p.W181*	ENST00000295757.3	37	c.543	CCDS2615.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.376258|4.376258	0.82682|0.82682	.|.	.|.	ENSG00000163517|ENSG00000163517	ENST00000295757;ENST00000402259;ENST00000402271;ENST00000446613;ENST00000404040;ENST00000405478;ENST00000522202;ENST00000437379|ENST00000433119;ENST00000404548;ENST00000405025	T;T;T;T;T;T;T;T|.	0.78246|.	-0.48;-0.48;-0.48;-0.48;-0.48;-1.16;-0.48;-0.48|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Histone deacetylase domain (2);|.	0.122386|.	0.64402|.	D|.	0.000013|.	T|.	0.80949|.	0.4722|.	M|M	0.88842|0.88842	2.985|2.985	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.32324|.	0.364;0.364|.	B;B|.	0.37943|.	0.261;0.261|.	D|.	0.84399|.	0.0559|.	10|.	0.87932|0.87932	D|D	0|0	-1.7016|-1.7016	15.2262|15.2262	0.73354|0.73354	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;224|.	B4DDK1;Q96DB2|.	.;HDA11_HUMAN|.	K|X	224;58;145;32;124;196;173;196|181;91;63	ENSP00000295757:E224K;ENSP00000384706:E58K;ENSP00000384123:E145K;ENSP00000401487:E32K;ENSP00000385475:E124K;ENSP00000385252:E196K;ENSP00000429794:E173K;ENSP00000395188:E196K|.	ENSP00000295757:E224K|ENSP00000385528:W91X	E|W	+|+	1|3	0|0	HDAC11|HDAC11	13520614|13520614	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	8.717000|8.717000	0.91425|0.91425	2.667000|2.667000	0.90743|0.90743	0.561000|0.561000	0.74099|0.74099	GAG|TGG	HDAC11	-	NULL		0.542	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC11	HGNC	protein_coding	OTTHUMT00000252028.5	G	NM_024827		13545614	+1	no_errors	ENST00000433119	ensembl	human	putative	70_37	nonsense	SNP	1.000	A
HDAC3	8841	genome.wustl.edu	37	5	141001051	141001051	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:141001051C>T	ENST00000305264.3	-	15	1350	c.1271G>A	c.(1270-1272)aGc>aAc	p.S424N	DIAPH1_ENST00000253811.6_5'Flank|DIAPH1_ENST00000398562.2_5'Flank|DIAPH1_ENST00000389057.5_5'Flank|DIAPH1_ENST00000389054.3_5'Flank|DIAPH1_ENST00000398566.3_5'Flank|DIAPH1_ENST00000518047.1_5'Flank|HDAC3_ENST00000469207.1_5'UTR|AC008781.7_ENST00000422040.2_RNA|DIAPH1_ENST00000398557.4_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	424					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CTCCACATCGCTTTCCTTGTC	0.493																																																	0													197.0	172.0	181.0					5																	141001051		2203	4300	6503	SO:0001583	missense	8841			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.1271G>A	5.37:g.141001051C>T	ENSP00000302967:p.Ser424Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.S424N	ENST00000305264.3	37	c.1271	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922593	0.52653	.	.	ENSG00000171720	ENST00000305264	T	0.68903	-0.36	5.16	5.16	0.70880	.	0.191485	0.64402	D	0.000007	T	0.47358	0.1441	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40156	-0.9578	10	0.15066	T	0.55	-20.8865	18.4383	0.90654	0.0:1.0:0.0:0.0	.	424	O15379	HDAC3_HUMAN	N	424	ENSP00000302967:S424N	ENSP00000302967:S424N	S	-	2	0	HDAC3	140981235	1.000000	0.71417	0.970000	0.41538	0.897000	0.52465	7.651000	0.83577	2.698000	0.92095	0.563000	0.77884	AGC	HDAC3	-	pirsf_His_deacetylse_1		0.493	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	HGNC	protein_coding	OTTHUMT00000251824.2	C	NM_003883		141001051	-1	no_errors	ENST00000305264	ensembl	human	known	70_37	missense	SNP	1.000	T
HEATR4	399671	genome.wustl.edu	37	14	73989258	73989258	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:73989258C>G	ENST00000553558.1	-	3	920	c.599G>C	c.(598-600)aGa>aCa	p.R200T	RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA|HEATR4_ENST00000560393.1_Missense_Mutation_p.R153T|HEATR4_ENST00000334988.2_Missense_Mutation_p.R200T	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	200										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTCCCACGCTCTGGCCTCCTT	0.597																																																	0													38.0	37.0	37.0					14																	73989258		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.599G>C	14.37:g.73989258C>G	ENSP00000450444:p.Arg200Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R200T	ENST00000553558.1	37	c.599	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892871	0.52121	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.42900	0.96	6.07	3.3	0.37823	.	0.289066	0.30168	N	0.010248	T	0.35219	0.0924	L	0.34521	1.04	0.27033	N	0.964186	P	0.50272	0.933	P	0.46479	0.518	T	0.17868	-1.0355	10	0.72032	D	0.01	-6.4962	8.2404	0.31656	0.0:0.7565:0.0:0.2435	.	200	Q86WZ0	HEAT4_HUMAN	T	200;153	ENSP00000450444:R200T	ENSP00000335447:R153T	R	-	2	0	HEATR4	73059011	0.771000	0.28555	0.982000	0.44146	0.497000	0.33675	0.713000	0.25794	0.461000	0.27071	-0.136000	0.14681	AGA	HEATR4	-	NULL		0.597	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73989258	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.989	G
MROH2B	133558	genome.wustl.edu	37	5	41038900	41038900	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:41038900G>C	ENST00000399564.4	-	21	2602	c.2152C>G	c.(2152-2154)Ctc>Gtc	p.L718V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L273V	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	718																	AGTCTGGAGAGAAGTTGCTTC	0.493																																																	0													70.0	71.0	71.0					5																	41038900		1924	4133	6057	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2152C>G	5.37:g.41038900G>C	ENSP00000382476:p.Leu718Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L718V	ENST00000399564.4	37	c.2152	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930526	0.52866	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.69685	4.75;-0.42	5.73	5.73	0.89815	Armadillo-type fold (1);	0.000000	0.46442	D	0.000293	T	0.79730	0.4496	M	0.72118	2.19	0.36013	D	0.838229	D	0.71674	0.998	D	0.83275	0.996	T	0.78984	-0.1988	10	0.22706	T	0.39	.	15.7506	0.77983	0.0:0.0:1.0:0.0	.	718	Q7Z745	HTRB2_HUMAN	V	273;423;718	ENSP00000441504:L273V;ENSP00000382476:L718V	ENSP00000296803:L423V	L	-	1	0	HEATR7B2	41074657	1.000000	0.71417	0.984000	0.44739	0.242000	0.25591	4.815000	0.62634	2.861000	0.98227	0.655000	0.94253	CTC	HEATR7B2	-	superfamily_ARM-type_fold		0.493	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41038900	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	0.997	C
MROH2B	133558	genome.wustl.edu	37	5	41045946	41045946	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:41045946C>G	ENST00000399564.4	-	18	2188	c.1738G>C	c.(1738-1740)Gaa>Caa	p.E580Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.E135Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	580																	CATAAGGATTCTTTGAGCAAC	0.383																																																	0													189.0	180.0	183.0					5																	41045946		1945	4147	6092	SO:0001583	missense	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1738G>C	5.37:g.41045946C>G	ENSP00000382476:p.Glu580Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E580Q	ENST00000399564.4	37	c.1738	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210537	0.58343	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68479	2.96;-0.33	5.51	5.51	0.81932	Armadillo-type fold (1);	0.415062	0.20437	N	0.092360	T	0.77212	0.4097	L	0.51422	1.61	0.39891	D	0.973777	D	0.76494	0.999	D	0.83275	0.996	T	0.75986	-0.3124	10	0.39692	T	0.17	.	14.911	0.70758	0.0:1.0:0.0:0.0	.	580	Q7Z745	HTRB2_HUMAN	Q	135;285;580	ENSP00000441504:E135Q;ENSP00000382476:E580Q	ENSP00000296803:E285Q	E	-	1	0	HEATR7B2	41081703	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	2.273000	0.43381	2.579000	0.87056	0.585000	0.79938	GAA	HEATR7B2	-	superfamily_ARM-type_fold		0.383	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	C	NM_173489		41045946	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	missense	SNP	1.000	G
HECTD4	283450	genome.wustl.edu	37	12	112607485	112607485	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:112607485C>G	ENST00000430131.2	-	69	11932				HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000377560.5_Intron			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4						glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										ATGAGCTGATCAAAGCACCCC	0.632																																																	0													30.0	34.0	33.0					12																	112607485		1967	4153	6120	SO:0001627	intron_variant	283450			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10787-23G>C	12.37:g.112607485C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.L53F	ENST00000430131.2	37	c.159		12	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006265	0.54361	.	.	ENSG00000173064	ENST00000547085	.	.	.	4.36	-5.76	0.02376	.	.	.	.	.	T	0.26955	0.0660	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31752	-0.9932	4	.	.	.	.	7.349	0.26680	0.3462:0.284:0.3698:0.0	.	.	.	.	F	53	.	.	L	-	3	2	C12orf51	111091868	0.000000	0.05858	0.000000	0.03702	0.079000	0.17450	-2.273000	0.01164	-1.296000	0.02353	0.591000	0.81541	TTG	HECTD4	-	NULL		0.632	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		C	NM_173813		112607485	-1	no_errors	ENST00000547085	ensembl	human	putative	70_37	missense	SNP	0.000	G
HEG1	57493	genome.wustl.edu	37	3	124731882	124731882	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:124731882C>T	ENST00000311127.4	-	6	2608	c.2541G>A	c.(2539-2541)ctG>ctA	p.L847L	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	847					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GAGAGGTCTTCAGAATGGTAG	0.507																																																	0													212.0	213.0	213.0					3																	124731882		2071	4214	6285	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2541G>A	3.37:g.124731882C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom	p.L847	ENST00000311127.4	37	c.2541	CCDS46898.1	3																																																																																			HEG1	-	NULL		0.507	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	C	XM_087386		124731882	-1	no_errors	ENST00000311127	ensembl	human	known	70_37	silent	SNP	0.000	T
HELB	92797	genome.wustl.edu	37	12	66717770	66717770	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66717770C>G	ENST00000247815.4	+	10	2364	c.2305C>G	c.(2305-2307)Cag>Gag	p.Q769E		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	769					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CAGAGACCATCAGAGTAGACT	0.343																																																	0													110.0	123.0	119.0					12																	66717770		2203	4300	6503	SO:0001583	missense	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2305C>G	12.37:g.66717770C>G	ENSP00000247815:p.Gln769Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	NULL	p.Q769E	ENST00000247815.4	37	c.2305	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	C	9.620	1.133549	0.21041	.	.	ENSG00000127311	ENST00000247815	T	0.11063	2.81	5.2	1.11	0.20524	.	0.422884	0.21541	N	0.072891	T	0.07143	0.0181	L	0.31294	0.92	0.22280	N	0.999232	B	0.10296	0.003	B	0.06405	0.002	T	0.37314	-0.9711	9	.	.	.	-1.1501	9.0343	0.36277	0.621:0.2717:0.1074:0.0	.	769	Q8NG08	HELB_HUMAN	E	769	ENSP00000247815:Q769E	.	Q	+	1	0	HELB	65004037	1.000000	0.71417	0.932000	0.37286	0.443000	0.32047	1.488000	0.35551	0.417000	0.25871	0.655000	0.94253	CAG	HELB	-	NULL		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	C			66717770	+1	no_errors	ENST00000247815	ensembl	human	known	70_37	missense	SNP	1.000	G
HELB	92797	genome.wustl.edu	37	12	66731855	66731855	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66731855C>G	ENST00000247815.4	+	13	3296	c.3237C>G	c.(3235-3237)ttC>ttG	p.F1079L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1079					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCAACTTTTCAAGCCCACCG	0.343																																																	0													68.0	71.0	70.0					12																	66731855		2203	4300	6503	SO:0001583	missense	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.3237C>G	12.37:g.66731855C>G	ENSP00000247815:p.Phe1079Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	NULL	p.F1079L	ENST00000247815.4	37	c.3237	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794724	0.50102	.	.	ENSG00000127311	ENST00000247815	T	0.17054	2.3	5.5	0.504	0.16946	.	0.000000	0.64402	D	0.000001	T	0.14787	0.0357	M	0.62723	1.935	0.36843	D	0.887516	B	0.25390	0.125	B	0.24848	0.056	T	0.10200	-1.0640	9	.	.	.	-21.4179	6.0111	0.19575	0.1171:0.5618:0.0:0.3211	.	1079	Q8NG08	HELB_HUMAN	L	1079	ENSP00000247815:F1079L	.	F	+	3	2	HELB	65018122	0.204000	0.23447	0.490000	0.27465	0.338000	0.28826	-0.033000	0.12246	-0.191000	0.10448	-0.122000	0.15005	TTC	HELB	-	NULL		0.343	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	C			66731855	+1	no_errors	ENST00000247815	ensembl	human	known	70_37	missense	SNP	0.985	G
HELQ	113510	genome.wustl.edu	37	4	84358067	84358067	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:84358067G>A	ENST00000295488.3	-	9	2154	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L	HELQ_ENST00000510985.1_Silent_p.L597L	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	664	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAAAAAGACAGAGCACTCCTG	0.468								Other identified genes with known or suspected DNA repair function																																									0													104.0	97.0	99.0					4																	84358067		2203	4300	6503	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1992C>T	4.37:g.84358067G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L664	ENST00000295488.3	37	c.1992	CCDS3603.1	4																																																																																			HELQ	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.468	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	G	NM_133636		84358067	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	silent	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28517458	28517458	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:28517458G>A	ENST00000261609.7	-	9	1094	c.986C>T	c.(985-987)tCc>tTc	p.S329F		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S329F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCTGGGCGGAACGCTCATT	0.542																																																	1	Substitution - Missense(1)	cervix(1)											67.0	53.0	58.0					15																	28517458		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.986C>T	15.37:g.28517458G>A	ENSP00000261609:p.Ser329Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.S329F	ENST00000261609.7	37	c.986	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616055	0.87359	.	.	ENSG00000128731	ENST00000261609	T	0.39229	1.09	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	L	0.40543	1.245	0.80722	D	1	P	0.44578	0.838	P	0.47470	0.548	T	0.34675	-0.9819	10	0.46703	T	0.11	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	329	O95714	HERC2_HUMAN	F	329	ENSP00000261609:S329F	ENSP00000261609:S329F	S	-	2	0	HERC2	26191053	1.000000	0.71417	0.460000	0.27093	0.980000	0.70556	9.794000	0.99096	2.641000	0.89580	0.650000	0.86243	TCC	HERC2	-	NULL		0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	G	NM_004667		28517458	-1	no_errors	ENST00000261609	ensembl	human	known	70_37	missense	SNP	0.997	A
HGFAC	3083	genome.wustl.edu	37	4	3451045	3451045	+	Missense_Mutation	SNP	G	G	A	rs375925462		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:3451045G>A	ENST00000382774.3	+	14	1982	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R	HGFAC_ENST00000511533.1_Missense_Mutation_p.G630R	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	623	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGACGGCTGCGGGCGGCTCCA	0.672																																																	0								G	ARG/GLY	0,4406		0,0,2203	45.0	55.0	52.0		1867	4.1	0.9	4		52	1,8593	1.2+/-3.3	0,1,4296	no	missense	HGFAC	NM_001528.2	125	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	623/656	3451045	1,12999	2203	4297	6500	SO:0001583	missense	3083			D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1867G>A	4.37:g.3451045G>A	ENSP00000372224:p.Gly623Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14726|Q2M1W7|Q53X47	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G623R	ENST00000382774.3	37	c.1867	CCDS3369.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810948	0.90707	0.0	1.16E-4	ENSG00000109758	ENST00000382774;ENST00000511533	D;D	0.94497	-3.44;-3.44	4.05	4.05	0.47172	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.132879	0.49916	D	0.000124	D	0.97526	0.9190	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98461	1.0596	10	0.87932	D	0	.	14.927	0.70887	0.0:0.0:1.0:0.0	.	630;623	D6RAR4;Q04756	.;HGFA_HUMAN	R	623;630	ENSP00000372224:G623R;ENSP00000421801:G630R	ENSP00000372224:G623R	G	+	1	0	HGFAC	3420843	0.995000	0.38212	0.945000	0.38365	0.761000	0.43186	2.907000	0.48743	2.080000	0.62538	0.561000	0.74099	GGG	HGFAC	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_Peptidase_S1_S6		0.672	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGFAC	HGNC	protein_coding	OTTHUMT00000206607.3	G			3451045	+1	no_errors	ENST00000382774	ensembl	human	known	70_37	missense	SNP	1.000	A
HIF3A	64344	genome.wustl.edu	37	19	46807342	46807342	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:46807342G>A	ENST00000377670.4	+	2	245	c.214G>A	c.(214-216)Gca>Aca	p.A72T	HIF3A_ENST00000472815.1_Silent_p.P51P|HIF3A_ENST00000420102.2_Silent_p.P69P|HIF3A_ENST00000600383.1_Silent_p.P51P|HIF3A_ENST00000339613.2_Missense_Mutation_p.A16T|HIF3A_ENST00000300862.3_Missense_Mutation_p.A70T|RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000244303.6_Silent_p.P51P	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	72					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTCTGCGCCGCAGGTGAGCC	0.662																																																	0													4.0	6.0	5.0					19																	46807342		2127	4159	6286	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.214G>A	19.37:g.46807342G>A	ENSP00000366898:p.Ala72Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.A72T	ENST00000377670.4	37	c.214	CCDS12681.2	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041509	0.35989	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000472815;ENST00000291300;ENST00000300862	T;T;T	0.56611	0.52;0.45;0.52	4.68	3.64	0.41730	Helix-loop-helix DNA-binding (2);	0.352724	0.20785	N	0.085727	T	0.28101	0.0693	N	0.12637	0.245	0.38939	D	0.958113	P;P;P;P;B	0.43314	0.803;0.703;0.703;0.663;0.271	B;B;B;B;B	0.32724	0.151;0.048;0.072;0.097;0.086	T	0.11690	-1.0577	10	0.21540	T	0.41	.	12.3565	0.55178	0.0:0.0:0.83:0.17	.	70;16;72;72;72	Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;HIF3A_HUMAN;.;.	T	72;72;72;72;16;93;16;70	ENSP00000366898:A72T;ENSP00000341877:A16T;ENSP00000300862:A70T	ENSP00000244302:A72T	A	+	1	0	HIF3A	51499182	0.009000	0.17119	1.000000	0.80357	0.510000	0.34073	0.410000	0.21098	1.331000	0.45412	-0.261000	0.10672	GCA	HIF3A	-	superfamily_HLH_dom,smart_HLH_dom		0.662	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	G			46807342	+1	no_errors	ENST00000377670	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H4B	8366	genome.wustl.edu	37	6	26027476	26027476	+	Missense_Mutation	SNP	G	G	A	rs142718461		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:26027476G>A	ENST00000377364.3	-	1	4	c.5C>T	c.(4-6)tCt>tTt	p.S2F		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	2					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						GCCGCGACCAGACATGTCTAA	0.502																																																	0								G	PHE/SER	1,4405		0,1,2202	47.0	45.0	46.0		5	4.6	1.0	6	dbSNP_134	46	0,8600		0,0,4300	no	missense	HIST1H4B	NM_003544.2	155	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	2/104	26027476	1,13005	2203	4300	6503	SO:0001583	missense	8366			X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.5C>T	6.37:g.26027476G>A	ENSP00000366581:p.Ser2Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.S2F	ENST00000377364.3	37	c.5	CCDS4572.1	6	.	.	.	.	.	.	.	.	.	.	g	13.25	2.181670	0.38511	2.27E-4	0.0	ENSG00000124529	ENST00000377364	.	.	.	4.56	4.56	0.56223	.	0.259433	0.25625	U	0.029398	T	0.69468	0.3114	.	.	.	0.35698	D	0.815405	.	.	.	.	.	.	T	0.75266	-0.3378	6	0.87932	D	0	.	16.7654	0.85522	0.0:0.0:1.0:0.0	.	.	.	.	F	2	.	ENSP00000366581:S2F	S	-	2	0	HIST1H4B	26135455	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	7.198000	0.77823	2.454000	0.82982	0.563000	0.77884	TCT	HIST1H4B	-	superfamily_Histone-fold		0.502	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4B	HGNC	protein_coding	OTTHUMT00000040079.2	G	NM_003544		26027476	-1	no_errors	ENST00000377364	ensembl	human	known	70_37	missense	SNP	1.000	A
HIST1H4G	8369	genome.wustl.edu	37	6	26247065	26247065	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:26247065G>A	ENST00000244537.4	-	1	194	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	47						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I47M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGAGGCCCAAGATGCGCTTGA	0.572																																																	1	Substitution - Missense(1)	endometrium(1)											52.0	49.0	50.0					6																	26247065		2203	4300	6503	SO:0001819	synonymous_variant	8369			Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.141C>T	6.37:g.26247065G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4	p.I47	ENST00000244537.4	37	c.141	CCDS4599.1	6																																																																																			HIST1H4G	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,prints_Histone_H4		0.572	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4G	HGNC	protein_coding	OTTHUMT00000040107.1	G	NM_003547		26247065	-1	no_errors	ENST00000244537	ensembl	human	known	70_37	silent	SNP	1.000	A
HIST1H2AL	8332	genome.wustl.edu	37	6	27833221	27833221	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	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	Somatic		WXS	Illumina HiSeq	Phase_IV	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
HIST2H2AC	8338	genome.wustl.edu	37	1	149858613	149858613	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:149858613G>C	ENST00000331380.2	+	1	89	c.89G>C	c.(88-90)cGa>cCa	p.R30P	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	30						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGGTAGGGCGAGTGCACCGC	0.672																																																	0													60.0	67.0	64.0					1																	149858613		2202	4298	6500	SO:0001583	missense	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.89G>C	1.37:g.149858613G>C	ENSP00000332194:p.Arg30Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.R30P	ENST00000331380.2	37	c.89	CCDS937.1	1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.694144	0.68386	.	.	ENSG00000184260	ENST00000331380	D	0.85339	-1.97	5.81	5.81	0.92471	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.42964	D	0.000638	D	0.96815	0.8960	H	0.99948	5.02	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.98688	1.0695	10	0.87932	D	0	.	18.6409	0.91396	0.0:0.0:1.0:0.0	.	30	Q16777	H2A2C_HUMAN	P	30	ENSP00000332194:R30P	ENSP00000332194:R30P	R	+	2	0	HIST2H2AC	148125237	1.000000	0.71417	0.081000	0.20488	0.963000	0.63663	7.466000	0.80914	2.745000	0.94114	0.655000	0.94253	CGA	HIST2H2AC	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.672	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2AC	HGNC	protein_coding	OTTHUMT00000087128.1	G	NM_003517		149858613	+1	no_errors	ENST00000331380	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST3H2A	92815	genome.wustl.edu	37	1	228645397	228645397	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:228645397G>C	ENST00000366695.2	-	1	163	c.122C>G	c.(121-123)tCg>tGg	p.S41W	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	41					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				CACGCGCTCCGAATAGTTGCC	0.716																																																	0													16.0	20.0	19.0					1																	228645397		2196	4295	6491	SO:0001583	missense	92815			AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.122C>G	1.37:g.228645397G>C	ENSP00000355656:p.Ser41Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4S4	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.S41W	ENST00000366695.2	37	c.122	CCDS1573.1	1	.	.	.	.	.	.	.	.	.	.	.	10.73	1.433084	0.25813	.	.	ENSG00000181218	ENST00000366695	T	0.69561	-0.41	4.07	3.13	0.36017	Histone-fold (2);Histone core (1);Histone H2A (1);	0.176181	0.27500	N	0.019083	T	0.82185	0.4982	M	0.87097	2.86	0.35214	D	0.775436	D	0.89917	1.0	D	0.83275	0.996	D	0.88343	0.2976	10	0.87932	D	0	.	11.8956	0.52654	0.0:0.1781:0.8219:0.0	.	41	Q7L7L0	H2A3_HUMAN	W	41	ENSP00000355656:S41W	ENSP00000355656:S41W	S	-	2	0	HIST3H2A	226712020	1.000000	0.71417	0.028000	0.17463	0.132000	0.20833	5.869000	0.69613	1.253000	0.44018	0.655000	0.94253	TCG	HIST3H2A	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A		0.716	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2A	HGNC	protein_coding	OTTHUMT00000096598.1	G	NM_033445		228645397	-1	no_errors	ENST00000366695	ensembl	human	known	70_37	missense	SNP	0.403	C
HLA-V	352962	genome.wustl.edu	37	6	29764835	29764836	+	RNA	INS	-	-	TT	rs199497930|rs538371680		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:29764835_29764836insTT	ENST00000457107.1	+	0	4061_4062									major histocompatibility complex, class I, V (pseudogene)																		atatttaatcaactttacagaa	0.238																																																	0																																												352962			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29764835_29764836insTT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			HLA-V	-	-		0.238	HLA-V-003	KNOWN	basic	processed_transcript	HLA-V	HGNC	pseudogene	OTTHUMT00000105231.1	-	NG_002729		29764836	+1	no_errors	ENST00000457107	ensembl	human	known	70_37	rna	INS	0.150:0.174	TT
HLA-B	3106	genome.wustl.edu	37	6	31323001	31323001	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31323001C>T	ENST00000412585.2	-	5	924		c.e5-1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GAAGACGGCTCTGGGAAAGGA	0.602									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								0													60.0	61.0	61.0					6																	31323001		1511	2709	4220	SO:0001630	splice_region_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.896-1G>A	6.37:g.31323001C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q29764	Splice_Site	SNP	-	e5-1	ENST00000412585.2	37	c.896-1	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	.	13.81	2.347390	0.41599	.	.	ENSG00000234745	ENST00000412585;ENST00000428231	.	.	.	3.69	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3839	0.49773	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31430980	1.000000	0.71417	0.512000	0.27736	0.299000	0.27559	3.086000	0.50159	1.804000	0.52760	0.442000	0.29010	.	HLA-B	-	-		0.602	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	C	NM_005514	Intron	31323001	-1	no_errors	ENST00000412585	ensembl	human	known	70_37	splice_site	SNP	0.931	T
HIVEP2	3097	genome.wustl.edu	37	6	143074731	143074731	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:143074731C>T	ENST00000367604.1	-	9	7493	c.6854G>A	c.(6853-6855)cGa>cAa	p.R2285Q	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.R2285Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R2285Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2285					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTGAGGACCTCGCTTCTCATG	0.547																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													77.0	80.0	79.0					6																	143074731		2005	4180	6185	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6854G>A	6.37:g.143074731C>T	ENSP00000356576:p.Arg2285Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2285Q	ENST00000367604.1	37	c.6854	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660859	0.00772	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02345	4.33;4.33;4.33	5.63	2.68	0.31781	.	0.819596	0.11689	N	0.539103	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.46317	-0.9200	10	0.10636	T	0.68	-0.4461	2.99	0.05980	0.1414:0.5472:0.1586:0.1528	.	2285	P31629	ZEP2_HUMAN	Q	2285	ENSP00000356576:R2285Q;ENSP00000356575:R2285Q;ENSP00000012134:R2285Q	ENSP00000012134:R2285Q	R	-	2	0	HIVEP2	143116424	0.013000	0.17824	0.017000	0.16124	0.105000	0.19272	0.833000	0.27504	0.697000	0.31718	0.655000	0.94253	CGA	HIVEP2	-	NULL		0.547	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143074731	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	0.040	T
HLCS	3141	genome.wustl.edu	37	21	38129019	38129019	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:38129019G>C	ENST00000399120.1	-	11	3063	c.1833C>G	c.(1831-1833)atC>atG	p.I611M	HLCS_ENST00000336648.4_Missense_Mutation_p.I611M	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	611	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CGTTGATGCAGATGGTAGGGT	0.463																																																	0													262.0	228.0	239.0					21																	38129019		2203	4300	6503	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.1833C>G	21.37:g.38129019G>C	ENSP00000382071:p.Ile611Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase	p.I611M	ENST00000399120.1	37	c.1833	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804074	0.50315	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.97016	-4.21;-4.21	4.74	-9.48	0.00591	.	0.073236	0.56097	D	0.000026	D	0.93331	0.7874	L	0.58428	1.81	0.29237	N	0.872887	P	0.44690	0.841	B	0.43701	0.428	D	0.88047	0.2785	10	0.35671	T	0.21	.	16.7555	0.85498	0.1504:0.0:0.7054:0.1442	.	611	P50747	BPL1_HUMAN	M	611	ENSP00000382071:I611M;ENSP00000338387:I611M	ENSP00000338387:I611M	I	-	3	3	HLCS	37050889	0.001000	0.12720	0.800000	0.32199	0.843000	0.47879	-2.490000	0.00975	-2.122000	0.00824	-0.397000	0.06425	ATC	HLCS	-	tigrfam_Biotin_CoA_COase_ligase		0.463	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	HGNC	protein_coding	OTTHUMT00000194687.2	G			38129019	-1	no_errors	ENST00000336648	ensembl	human	known	70_37	missense	SNP	0.203	C
HMCN1	83872	genome.wustl.edu	37	1	186157140	186157140	+	Splice_Site	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:186157140G>T	ENST00000271588.4	+	106	16769	c.16540G>T	c.(16540-16542)Ggg>Tgg	p.G5514W	HMCN1_ENST00000367492.2_Splice_Site_p.G5397W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5514					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCTGTTTCAGGGTATGTCTT	0.478																																																	0													303.0	227.0	253.0					1																	186157140		2203	4300	6503	SO:0001630	splice_region_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16541+1G>T	1.37:g.186157140G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.G5514W	ENST00000271588.4	37	c.16540	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912887	0.92178	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.88124	-2.34;-2.34;-2.34	5.71	5.71	0.89125	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	M	0.62723	1.935	0.50813	D	0.999897	D	0.89917	1.0	D	0.77557	0.99	D	0.92907	0.6344	10	0.72032	D	0.01	.	19.8772	0.96880	0.0:0.0:1.0:0.0	.	5514	Q96RW7	HMCN1_HUMAN	W	5514;5397;189	ENSP00000271588:G5514W;ENSP00000356462:G5397W;ENSP00000406205:G189W	ENSP00000271588:G5514W	G	+	1	0	HMCN1	184423763	1.000000	0.71417	0.964000	0.40570	0.835000	0.47333	8.000000	0.88501	2.686000	0.91538	0.650000	0.86243	GGG	HMCN1	-	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.478	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	G	NM_031935	Missense_Mutation	186157140	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	T
HLX	3142	genome.wustl.edu	37	1	221053402	221053402	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:221053402C>T	ENST00000366903.6	+	1	1704	c.203C>T	c.(202-204)tCg>tTg	p.S68L	HLX_ENST00000549319.1_5'Flank|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	68					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S68L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GCAGGGGCCTCGGCCGCCGCC	0.731																																																	1	Substitution - Missense(1)	lung(1)											5.0	6.0	6.0					1																	221053402		1769	3782	5551	SO:0001583	missense	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.203C>T	1.37:g.221053402C>T	ENSP00000355870:p.Ser68Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S68L	ENST00000366903.6	37	c.203	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925193	0.92319	.	.	ENSG00000136630	ENST00000366903	T	0.35421	1.31	4.65	4.65	0.58169	.	0.000000	0.52532	D	0.000073	T	0.41789	0.1174	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.55965	0.788	T	0.31752	-0.9932	10	0.56958	D	0.05	-13.5171	15.3861	0.74703	0.0:1.0:0.0:0.0	.	68	Q14774	HLX_HUMAN	L	68	ENSP00000355870:S68L	ENSP00000355870:S68L	S	+	2	0	HLX	219120025	0.998000	0.40836	0.999000	0.59377	0.782000	0.44232	3.945000	0.56637	2.570000	0.86706	0.585000	0.79938	TCG	HLX	-	NULL		0.731	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	C	NM_021958		221053402	+1	no_errors	ENST00000366903	ensembl	human	known	70_37	missense	SNP	0.998	T
HMGB2	3148	genome.wustl.edu	37	4	174254097	174254097	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:174254097C>T	ENST00000296503.5	-	4	1219	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	HMGB2_ENST00000446922.2_Missense_Mutation_p.E116K|HMGB2_ENST00000438704.2_Missense_Mutation_p.E116K			P26583	HMGB2_HUMAN	high mobility group box 2	116					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		CCAGGGTGTTCACTTTTGATC	0.428																																																	0													138.0	143.0	141.0					4																	174254097		2203	4300	6503	SO:0001583	missense	3148				CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.346G>A	4.37:g.174254097C>T	ENSP00000296503:p.Glu116Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E116K	ENST00000296503.5	37	c.346	CCDS3816.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129092	0.77549	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.06	5.06	0.68205	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.081400	0.51477	D	0.000093	D	0.97473	0.9173	L	0.56124	1.755	0.80722	D	1	B	0.25521	0.128	B	0.37239	0.244	D	0.96239	0.9174	10	0.45353	T	0.12	.	18.6138	0.91295	0.0:1.0:0.0:0.0	.	116	P26583	HMGB2_HUMAN	K	116	ENSP00000296503:E116K;ENSP00000393448:E116K;ENSP00000404912:E116K;ENSP00000423001:E116K	ENSP00000296503:E116K	E	-	1	0	HMGB2	174490672	1.000000	0.71417	0.998000	0.56505	0.530000	0.34684	7.416000	0.80143	2.626000	0.88956	0.563000	0.77884	GAA	HMGB2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.428	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGB2	HGNC	protein_coding	OTTHUMT00000362362.1	C	NM_001130688		174254097	-1	no_errors	ENST00000296503	ensembl	human	known	70_37	missense	SNP	1.000	T
HMGCR	3156	genome.wustl.edu	37	5	74655364	74655364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:74655364C>T	ENST00000287936.4	+	18	2596	c.2440C>T	c.(2440-2442)Cag>Tag	p.Q814*	HMGCR_ENST00000343975.5_Nonsense_Mutation_p.Q761*|HMGCR_ENST00000511206.1_Nonsense_Mutation_p.Q814*	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	814	Catalytic.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCTACTACCTCAGCAAGCCTG	0.453																																																	0													67.0	70.0	69.0					5																	74655364		2203	4300	6503	SO:0001587	stop_gained	3156				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.2440C>T	5.37:g.74655364C>T	ENSP00000287936:p.Gln814*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3Y9|Q8N190	Nonsense_Mutation	SNP	pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc	p.Q814*	ENST00000287936.4	37	c.2440	CCDS4027.1	5	.	.	.	.	.	.	.	.	.	.	C	40	7.981769	0.98594	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975;ENST00000429286	.	.	.	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.1179	17.8149	0.88628	0.0:1.0:0.0:0.0	.	.	.	.	X	814;745;814;761;191	.	ENSP00000287936:Q814X	Q	+	1	0	HMGCR	74691120	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.602000	0.82796	2.416000	0.81992	0.655000	0.94253	CAG	HMGCR	-	pfam_HMG_CoA_Rdtase,superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc		0.453	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	HGNC	protein_coding	OTTHUMT00000219877.2	C			74655364	+1	no_errors	ENST00000287936	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HOXA3	3200	genome.wustl.edu	37	7	27150136	27150136	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:27150136C>T	ENST00000396352.4	-	2	323	c.124G>A	c.(124-126)Gac>Aac	p.D42N	HOXA3_ENST00000521401.1_5'Flank|HOXA3_ENST00000317201.2_Missense_Mutation_p.D42N|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	42			D -> N (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D42N(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						TACTCGCCGTCGGCGCCCAAA	0.682																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)												1	Substitution - Missense(1)	breast(1)											17.0	16.0	16.0					7																	27150136		2124	4183	6307	SO:0001583	missense	3200				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.124G>A	7.37:g.27150136C>T	ENSP00000379640:p.Asp42Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D181	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D42N	ENST00000396352.4	37	c.124	CCDS5404.1	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325062	0.81580	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000522788;ENST00000522456	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.49	5.49	0.81192	.	0.144240	0.64402	D	0.000009	T	0.31071	0.0785	N	0.19112	0.55	0.39098	D	0.961235	B	0.21452	0.056	B	0.14578	0.011	T	0.16630	-1.0396	10	0.87932	D	0	.	15.1097	0.72346	0.1503:0.8497:0.0:0.0	.	42	O43365	HXA3_HUMAN	N	42	ENSP00000379640:D42N;ENSP00000324884:D42N;ENSP00000429426:D42N;ENSP00000430566:D42N	ENSP00000324884:D42N	D	-	1	0	HOXA3	27116661	1.000000	0.71417	0.174000	0.22961	0.681000	0.39784	7.384000	0.79751	2.595000	0.87683	0.462000	0.41574	GAC	HOXA3	-	NULL		0.682	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA3	HGNC	protein_coding	OTTHUMT00000358708.2	C			27150136	-1	no_errors	ENST00000317201	ensembl	human	known	70_37	missense	SNP	0.942	T
HOXA10	3206	genome.wustl.edu	37	7	27211464	27211464	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:27211464G>C	ENST00000283921.4	-	0	1286				RP1-170O19.20_ENST00000465941.1_Intron|HOXA-AS4_ENST00000519694.1_RNA|MIR196B_ENST00000384852.1_RNA|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000521421.1_5'UTR|HOXA9_ENST00000497089.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_3'UTR	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10						anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CCTGAAGACAGAGGGAGGGGA	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	100874323				CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.*54C>G	7.37:g.27211464G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43370|O43605|Q15949|Q504T1	RNA	SNP	-	NULL	ENST00000283921.4	37	NULL	CCDS5410.2	7																																																																																			HOXA-AS4	-	-		0.587	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HOXA-AS4	HGNC	protein_coding	OTTHUMT00000358724.2	G			27211464	+1	no_errors	ENST00000519935	ensembl	human	known	70_37	rna	SNP	0.032	C
HOXC11	3227	genome.wustl.edu	37	12	54367370	54367370	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:54367370G>A	ENST00000546378.1	+	1	461	c.345G>A	c.(343-345)atG>atA	p.M115I	HOXC11_ENST00000243082.4_Missense_Mutation_p.M115I|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	115					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						AGATCCTCATGAAAAACGAAG	0.637			T	NUP98	AML																																			Dom	yes		12	12q13.3	3227	homeo box C11		L	0													96.0	116.0	109.0					12																	54367370		2203	4300	6503	SO:0001583	missense	3227				CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.345G>A	12.37:g.54367370G>A	ENSP00000446680:p.Met115Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7D1|Q96DH2	Missense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.M115I	ENST00000546378.1	37	c.345	CCDS8867.1	12	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652452	0.67472	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	T;T	0.40476	1.03;1.03	4.31	4.31	0.51392	Domain of unknown function DUF3528, homeobox protein, eukaryotic (1);	0.036347	0.85682	D	0.000000	T	0.49167	0.1541	L	0.49778	1.585	0.58432	D	0.999998	B	0.26935	0.164	B	0.41412	0.356	T	0.55153	-0.8185	10	0.62326	D	0.03	.	16.0846	0.81031	0.0:0.0:1.0:0.0	.	115	O43248	HXC11_HUMAN	I	115	ENSP00000446680:M115I;ENSP00000243082:M115I	ENSP00000243082:M115I	M	+	3	0	HOXC11	52653637	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.077000	0.71275	2.386000	0.81285	0.555000	0.69702	ATG	HOXC11	-	pfam_DUF3528		0.637	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC11	HGNC	protein_coding	OTTHUMT00000358869.2	G			54367370	+1	no_errors	ENST00000546378	ensembl	human	known	70_37	missense	SNP	1.000	A
HSD17B4	3295	genome.wustl.edu	37	5	118811536	118811536	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:118811536C>T	ENST00000256216.6	+	6	453	c.320C>T	c.(319-321)tCc>tTc	p.S107F	HSD17B4_ENST00000510025.1_Missense_Mutation_p.S83F|HSD17B4_ENST00000504811.1_Missense_Mutation_p.S132F|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S89F|HSD17B4_ENST00000513628.1_5'Flank|HSD17B4_ENST00000509514.1_5'Flank|HSD17B4_ENST00000414835.2_5'UTR	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	107	(3R)-hydroxyacyl-CoA dehydrogenase.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		AGGGATCGTTCCTTTGCTAGG	0.294																																					Colon(35;490 801 34689 41394 43344)												0													114.0	112.0	113.0					5																	118811536		2202	4298	6500	SO:0001583	missense	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.320C>T	5.37:g.118811536C>T	ENSP00000256216:p.Ser107Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.S107F	ENST00000256216.6	37	c.320	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862258	0.91511	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.54	5.54	0.83059	NAD(P)-binding domain (1);	0.119617	0.64402	D	0.000014	D	0.92450	0.7603	L	0.52266	1.64	0.80722	D	1	P;D;P;D	0.65815	0.701;0.995;0.932;0.989	P;P;P;P	0.62560	0.525;0.879;0.674;0.904	D	0.92961	0.6389	10	0.87932	D	0	-14.4444	19.0731	0.93148	0.0:1.0:0.0:0.0	.	132;89;83;107	F5HE57;E9PB82;E7EWE5;P51659	.;.;.;DHB4_HUMAN	F	107;89;83;132	ENSP00000256216:S107F;ENSP00000424613:S89F;ENSP00000424940:S83F;ENSP00000420914:S132F	ENSP00000256216:S107F	S	+	2	0	HSD17B4	118839435	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	7.528000	0.81941	2.607000	0.88179	0.462000	0.41574	TCC	HSD17B4	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR		0.294	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	C	NM_000414		118811536	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	1.000	T
HSD17B6	8630	genome.wustl.edu	37	12	57178733	57178733	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57178733G>C	ENST00000554643.1	+	5	1018	c.669G>C	c.(667-669)atG>atC	p.M223I	HSD17B6_ENST00000554150.1_Missense_Mutation_p.M223I|HSD17B6_ENST00000555159.1_Missense_Mutation_p.M223I|HSD17B6_ENST00000322165.1_Missense_Mutation_p.M223I|HSD17B6_ENST00000555805.1_Missense_Mutation_p.M223I			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	223					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TAGAGCGAATGAAGCAAAGTT	0.428																																																	0													189.0	182.0	185.0					12																	57178733		2203	4300	6503	SO:0001583	missense	8630			AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.669G>C	12.37:g.57178733G>C	ENSP00000451406:p.Met223Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O43275	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.M223I	ENST00000554643.1	37	c.669	CCDS8925.1	12	.	.	.	.	.	.	.	.	.	.	g	8.267	0.812399	0.16537	.	.	ENSG00000025423	ENST00000555159;ENST00000555805;ENST00000554643;ENST00000554150;ENST00000322165	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	4.21	-4.18	0.03846	NAD(P)-binding domain (1);	1.614330	0.04080	N	0.309532	T	0.69886	0.3161	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55341	-0.8156	10	0.22706	T	0.39	.	1.1933	0.01869	0.3079:0.1099:0.359:0.2231	.	223	O14756	H17B6_HUMAN	I	223	ENSP00000450698:M223I;ENSP00000451753:M223I;ENSP00000451406:M223I;ENSP00000452273:M223I;ENSP00000318631:M223I	ENSP00000318631:M223I	M	+	3	0	HSD17B6	55465000	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.542000	0.06091	-0.475000	0.06852	0.651000	0.88453	ATG	HSD17B6	-	NULL		0.428	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSD17B6	HGNC	protein_coding	OTTHUMT00000410714.1	G	NM_003725		57178733	+1	no_errors	ENST00000322165	ensembl	human	known	70_37	missense	SNP	0.000	C
HSD17B8	7923	genome.wustl.edu	37	6	33173928	33173928	+	Silent	SNP	G	G	A	rs553229947		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33173928G>A	ENST00000374662.3	+	7	696	c.669G>A	c.(667-669)ccG>ccA	p.P223P	HSD17B8_ENST00000469186.1_3'UTR|MIR219-1_ENST00000362166.1_RNA|RING1_ENST00000374656.4_5'Flank	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	223					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633)	mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9						AAATGATCCCGATGGGACACT	0.458																																																	0													40.0	47.0	45.0					6																	33173928		1509	2708	4217	SO:0001819	synonymous_variant	7923			D82061	CCDS4769.1	6p21.3	2011-09-14	2002-02-19	2002-02-22	ENSG00000204228	ENSG00000204228	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	3554	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 30C, member 1"""	601417	"""FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)"""	FABGL		8812499, 19027726	Standard	NM_014234		Approved	HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1	uc003odi.2	Q92506	OTTHUMG00000031117	ENST00000374662.3:c.669G>A	6.37:g.33173928G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLX7|Q5STP7|Q9UIQ1	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH,prints_ADH_insect	p.P223	ENST00000374662.3	37	c.669	CCDS4769.1	6																																																																																			HSD17B8	-	prints_Glc/ribitol_DH,prints_DHB_DH		0.458	HSD17B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B8	HGNC	protein_coding	OTTHUMT00000076196.1	G	NM_014234		33173928	+1	no_errors	ENST00000374662	ensembl	human	known	70_37	silent	SNP	0.365	A
HSD3B2	3284	genome.wustl.edu	37	1	119964793	119964793	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:119964793C>G	ENST00000543831.1	+	4	918	c.669C>G	c.(667-669)gtC>gtG	p.V223V	HSD3B2_ENST00000369416.3_Silent_p.V223V	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	223					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	TCAACCCAGTCTATGTTGGCA	0.527																																																	0													62.0	63.0	63.0					1																	119964793		2203	4300	6503	SO:0001819	synonymous_variant	3284			BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.669C>G	1.37:g.119964793C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Silent	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_NmrA,pfam_PKS_KR	p.V223	ENST00000543831.1	37	c.669	CCDS902.1	1																																																																																			HSD3B2	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct		0.527	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B2	HGNC	protein_coding	OTTHUMT00000034994.1	C	NM_000198		119964793	+1	no_errors	ENST00000369416	ensembl	human	known	70_37	silent	SNP	0.735	G
HSD3B7	80270	genome.wustl.edu	37	16	30998216	30998216	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30998216G>A	ENST00000297679.5	+	6	680	c.587G>A	c.(586-588)gGt>gAt	p.G196D	HSD3B7_ENST00000262520.6_Intron|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	196					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)	p.G196V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCATCTACGGTGAAGGCCAC	0.672																																																	1	Substitution - Missense(1)	lung(1)											62.0	60.0	60.0					16																	30998216		2197	4300	6497	SO:0001583	missense	80270			AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.587G>A	16.37:g.30998216G>A	ENSP00000297679:p.Gly196Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96M28|Q9BSN9	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA	p.G196D	ENST00000297679.5	37	c.587	CCDS10698.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.709883	0.96821	.	.	ENSG00000099377	ENST00000297679	D	0.96685	-4.09	5.65	5.65	0.86999	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99521	1.0958	10	0.87932	D	0	-12.0105	18.4976	0.90870	0.0:0.0:1.0:0.0	.	196	Q9H2F3	3BHS7_HUMAN	D	196	ENSP00000297679:G196D	ENSP00000297679:G196D	G	+	2	0	HSD3B7	30905717	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.025000	0.76449	2.667000	0.90743	0.561000	0.74099	GGT	HSD3B7	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd		0.672	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD3B7	HGNC	protein_coding	OTTHUMT00000255554.2	G			30998216	+1	no_errors	ENST00000297679	ensembl	human	known	70_37	missense	SNP	1.000	A
HSPA2	3306	genome.wustl.edu	37	14	65009338	65009338	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:65009338G>A	ENST00000394709.1	+	2	1847	c.1771G>A	c.(1771-1773)Gag>Aag	p.E591K	HSPA2_ENST00000247207.6_Missense_Mutation_p.E591K|RP11-973N13.4_ENST00000554918.1_RNA			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	591					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCAGATGGCAGAGAAAGATGA	0.517																																					Pancreas(136;1211 1835 24894 31984 38227)												0													118.0	116.0	117.0					14																	65009338		2203	4300	6503	SO:0001583	missense	3306			L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1771G>A	14.37:g.65009338G>A	ENSP00000378199:p.Glu591Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E591K	ENST00000394709.1	37	c.1771	CCDS9766.1	14	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358958	0.82353	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.01034	5.42;5.42	5.43	5.43	0.79202	.	0.000000	0.53938	U	0.000041	T	0.03651	0.0104	M	0.83953	2.67	0.52099	D	0.999948	B	0.20988	0.05	B	0.34931	0.192	T	0.32402	-0.9908	10	0.87932	D	0	-4.5134	19.3085	0.94175	0.0:0.0:1.0:0.0	.	591	P54652	HSP72_HUMAN	K	591;591;365	ENSP00000378199:E591K;ENSP00000247207:E591K	ENSP00000247207:E591K	E	+	1	0	HSPA2	64079091	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	9.869000	0.99810	2.561000	0.86390	0.558000	0.71614	GAG	HSPA2	-	pfam_Hsp_70_fam		0.517	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA2	HGNC	protein_coding	OTTHUMT00000280651.1	G			65009338	+1	no_errors	ENST00000247207	ensembl	human	known	70_37	missense	SNP	1.000	A
HTR1B	3351	genome.wustl.edu	37	6	78173093	78173093	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:78173093G>A	ENST00000369947.2	-	1	397	c.28C>T	c.(28-30)Cca>Tca	p.P10S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	10					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGCGGCGGTGGAGCGCACTGA	0.647																																																	0													56.0	59.0	58.0					6																	78173093		2203	4300	6503	SO:0001583	missense	3351			BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.28C>T	6.37:g.78173093G>A	ENSP00000358963:p.Pro10Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_Adrnrgc_rcpt	p.P10S	ENST00000369947.2	37	c.28	CCDS4986.1	6	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757463	0.49468	.	.	ENSG00000135312	ENST00000369947	T	0.62105	0.05	4.78	3.91	0.45181	.	0.366993	0.18305	U	0.145285	T	0.24890	0.0604	N	0.24115	0.695	0.34617	D	0.71821	B	0.02656	0.0	B	0.04013	0.001	T	0.05257	-1.0896	9	.	.	.	.	8.727	0.34476	0.1034:0.0:0.8966:0.0	.	10	P28222	5HT1B_HUMAN	S	10	ENSP00000358963:P10S	.	P	-	1	0	HTR1B	78229812	0.596000	0.26866	0.998000	0.56505	0.172000	0.22775	1.035000	0.30216	1.236000	0.43740	0.561000	0.74099	CCA	HTR1B	-	prints_5HT1B_rcpt		0.647	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1B	HGNC	protein_coding	OTTHUMT00000041292.1	G	NM_000863		78173093	-1	no_errors	ENST00000369947	ensembl	human	known	70_37	missense	SNP	0.999	A
HTR3A	3359	genome.wustl.edu	37	11	113860273	113860273	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:113860273C>T	ENST00000504030.2	+	9	1670	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	HTR3A_ENST00000506841.2_Missense_Mutation_p.R441W|HTR3A_ENST00000299961.5_Missense_Mutation_p.R394W|HTR3A_ENST00000535865.1_Missense_Mutation_p.R153W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R415W|HTR3A_ENST00000355556.2_Missense_Mutation_p.R447W			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q. {ECO:0000269|PubMed:16487942}.		cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	CCCACCACCTCGGGAGGCCTC	0.637																																																	0													60.0	68.0	65.0					11																	113860273		2201	4296	6497	SO:0001583	missense	3359			D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.1225C>T	11.37:g.113860273C>T	ENSP00000424189:p.Arg409Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R447W	ENST00000504030.2	37	c.1339		11	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095916	0.36952	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.7	2.56	0.30785	.	0.431880	0.24611	N	0.037058	T	0.37517	0.1006	M	0.64170	1.965	0.20764	N	0.999854	D;D;D	0.67145	0.996;0.995;0.996	P;P;P	0.56788	0.713;0.663;0.806	T	0.11591	-1.0581	10	0.62326	D	0.03	-33.1711	8.8347	0.35104	0.4923:0.3181:0.1896:0.0	.	394;447;415	B4DSY6;G5E986;Q7KZM7	.;.;.	W	409;447;415;441;153;394	ENSP00000424189:R409W;ENSP00000347754:R447W;ENSP00000364648:R415W;ENSP00000424776:R441W;ENSP00000437776:R153W;ENSP00000299961:R394W	ENSP00000299961:R394W	R	+	1	2	HTR3A	113365483	0.013000	0.17824	0.571000	0.28486	0.005000	0.04900	0.316000	0.19469	0.715000	0.32103	-0.175000	0.13238	CGG	HTR3A	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.637	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	HTR3A	HGNC	protein_coding	OTTHUMT00000360822.2	C	NM_000869		113860273	+1	no_errors	ENST00000355556	ensembl	human	known	70_37	missense	SNP	0.127	T
HTR6	3362	genome.wustl.edu	37	1	19992308	19992308	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:19992308C>T	ENST00000289753.1	+	1	529	c.62C>T	c.(61-63)tCg>tTg	p.S21L		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	21					brain development (GO:0007420)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|long-term synaptic potentiation (GO:0060291)|negative regulation of acetylcholine secretion, neurotransmission (GO:0014058)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|synaptic transmission (GO:0007268)	cilium (GO:0005929)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)|serotonin receptor activity (GO:0004993)	p.S21L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Mianserin(DB06148)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Quetiapine(DB01224)|Sertindole(DB06144)|Ziprasidone(DB00246)	gggccgccgtcggccccgggg	0.736																																					Esophageal Squamous(168;1879 2619 6848 21062)												1	Substitution - Missense(1)	lung(1)											5.0	6.0	6.0					1																	19992308		1282	2951	4233	SO:0001583	missense	3362			L41147	CCDS197.1	1p36-p35	2012-08-08	2012-02-03		ENSG00000158748	ENSG00000158748		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5301	protein-coding gene	gene with protein product		601109	"""5-hydroxytryptamine (serotonin) receptor 6"""			8522988	Standard	NM_000871		Approved	5-HT6, 5-HT6R	uc001bcl.3	P50406	OTTHUMG00000002713	ENST00000289753.1:c.62C>T	1.37:g.19992308C>T	ENSP00000289753:p.Ser21Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13640|Q5TGZ1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn	p.S21L	ENST00000289753.1	37	c.62	CCDS197.1	1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375079	0.24857	.	.	ENSG00000158748	ENST00000289753	T	0.36699	1.24	2.76	1.82	0.25136	.	1.159010	0.06476	U	0.731954	T	0.22322	0.0538	N	0.14661	0.345	0.18873	N	0.999982	B	0.06786	0.001	B	0.01281	0.0	T	0.22977	-1.0201	9	.	.	.	.	9.272	0.37677	0.0:0.7769:0.2231:0.0	.	21	P50406	5HT6R_HUMAN	L	21	ENSP00000289753:S21L	.	S	+	2	0	HTR6	19864895	0.000000	0.05858	0.095000	0.20976	0.500000	0.33767	0.417000	0.21214	0.696000	0.31696	0.313000	0.20887	TCG	HTR6	-	prints_5HT6_rcpt		0.736	HTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR6	HGNC	protein_coding	OTTHUMT00000007704.1	C	NM_000871		19992308	+1	no_errors	ENST00000289753	ensembl	human	known	70_37	missense	SNP	0.654	T
HUWE1	10075	genome.wustl.edu	37	X	53560326	53560326	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53560326G>A	ENST00000342160.3	-	83	13526	c.13069C>T	c.(13069-13071)Cgc>Tgc	p.R4357C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4357C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4357	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCATGTGGCGGAGCTTCTCA	0.478																																																	0													50.0	46.0	48.0					X																	53560326		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13069C>T	X.37:g.53560326G>A	ENSP00000340648:p.Arg4357Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4357C	ENST00000342160.3	37	c.13069	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.09|11.09	1.535329|1.535329	0.27475|0.27475	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.59772	.|0.24;0.24	5.3|5.3	5.3|5.3	0.74995|0.74995	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80722|0.80722	0.4677|0.4677	M|M	0.90705|0.90705	3.14|3.14	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.80764	.|0.994;0.99	D|D	0.85149|0.85149	0.0985|0.0985	5|10	.|0.87932	.|D	.|0	.|.	16.9323|16.9323	0.86193|0.86193	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4357;4341	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	L|C	3390;1179|4357	.|ENSP00000340648:R4357C;ENSP00000262854:R4357C	.|ENSP00000262854:R4357C	P|R	-|-	2|1	0|0	HUWE1|HUWE1	53577051|53577051	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.376000|5.376000	0.66178|0.66178	2.347000|2.347000	0.79759|0.79759	0.513000|0.513000	0.50165|0.50165	CCG|CGC	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.478	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53560326	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	A
HUWE1	10075	genome.wustl.edu	37	X	53588727	53588727	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53588727G>C	ENST00000342160.3	-	54	7954	c.7497C>G	c.(7495-7497)ttC>ttG	p.F2499L	HUWE1_ENST00000262854.6_Missense_Mutation_p.F2499L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2499					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAGCACTGGAGAACATGTTGT	0.463																																																	0													99.0	78.0	85.0					X																	53588727		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7497C>G	X.37:g.53588727G>C	ENSP00000340648:p.Phe2499Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.F2499L	ENST00000342160.3	37	c.7497	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.64|15.64	2.893851|2.893851	0.52121|0.52121	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.37058|.	1.22;1.22|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.141227|.	0.50627|.	D|.	0.000104|.	T|T	0.55847|0.55847	0.1946|0.1946	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P;B|.	0.49447|.	0.924;0.001|.	P;B|.	0.57776|.	0.827;0.003|.	T|T	0.51741|0.51741	-0.8667|-0.8667	10|5	0.41790|.	T|.	0.15|.	.|.	17.2255|17.2255	0.86969|0.86969	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2499;2499|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	L|V	2499|1533	ENSP00000340648:F2499L;ENSP00000262854:F2499L|.	ENSP00000262854:F2499L|.	F|L	-|-	3|1	2|0	HUWE1|HUWE1	53605452|53605452	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.611000|4.611000	0.61162|0.61162	2.334000|2.334000	0.79466|0.79466	0.506000|0.506000	0.49869|0.49869	TTC|CTC	HUWE1	-	NULL		0.463	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53588727	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	C
HUWE1	10075	genome.wustl.edu	37	X	53589104	53589104	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53589104C>T	ENST00000342160.3	-	53	7763	c.7306G>A	c.(7306-7308)Gag>Aag	p.E2436K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2436K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2436	Asp-rich.|Glu-rich.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						tcctcctcctcctcttcatcc	0.517																																																	0													174.0	105.0	128.0					X																	53589104		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7306G>A	X.37:g.53589104C>T	ENSP00000340648:p.Glu2436Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E2436K	ENST00000342160.3	37	c.7306	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.884638|1.884638	0.33255|0.33255	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.42513|.	0.97;0.97|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.819098|.	0.10977|.	N|.	0.613067|.	T|T	0.39627|0.39627	0.1085|0.1085	N|N	0.08118|0.08118	0|0	0.50039|0.50039	D|D	0.999844|0.999844	D;D|.	0.56968|.	0.963;0.978|.	B;P|.	0.49953|.	0.424;0.627|.	T|T	0.31530|0.31530	-0.9940|-0.9940	10|5	0.35671|.	T|.	0.21|.	.|.	16.1977|16.1977	0.82042|0.82042	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2436;2436|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	K|E	2436|1469	ENSP00000340648:E2436K;ENSP00000262854:E2436K|.	ENSP00000262854:E2436K|.	E|G	-|-	1|2	0|0	HUWE1|HUWE1	53605829|53605829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.638000|6.638000	0.74309|0.74309	2.164000|2.164000	0.68074|0.68074	0.513000|0.513000	0.50165|0.50165	GAG|GGA	HUWE1	-	NULL		0.517	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53589104	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53655822	53655822	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:53655822G>C	ENST00000342160.3	-	13	1452	c.995C>G	c.(994-996)aCa>aGa	p.T332R	HUWE1_ENST00000218328.8_Missense_Mutation_p.T332R|HUWE1_ENST00000262854.6_Missense_Mutation_p.T332R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	332					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACAATTGATGTTAATGTTCG	0.378																																																	0													99.0	81.0	87.0					X																	53655822		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.995C>G	X.37:g.53655822G>C	ENSP00000340648:p.Thr332Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.T332R	ENST00000342160.3	37	c.995	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630775	0.87660	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.67865	-0.2;-0.2;-0.29	5.73	5.73	0.89815	E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	0.500370	0.21014	N	0.081640	D	0.82351	0.5018	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83986	0.0335	10	0.87932	D	0	.	17.5631	0.87912	0.0:0.0:1.0:0.0	.	332	Q7Z6Z7	HUWE1_HUMAN	R	332	ENSP00000340648:T332R;ENSP00000262854:T332R;ENSP00000218328:T332R	ENSP00000218328:T332R	T	-	2	0	HUWE1	53672547	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.274000	0.95731	2.418000	0.82041	0.600000	0.82982	ACA	HUWE1	-	pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold		0.378	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53655822	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	1.000	C
HYDIN	54768	genome.wustl.edu	37	16	71008192	71008192	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:71008192C>G	ENST00000393567.2	-	33	5071	c.4921G>C	c.(4921-4923)Gag>Cag	p.E1641Q		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1641					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGATCTAGCTCAGTACTGAAT	0.423																																																	0													23.0	21.0	22.0					16																	71008192		1813	4065	5878	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4921G>C	16.37:g.71008192C>G	ENSP00000377197:p.Glu1641Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.E1640Q	ENST00000393567.2	37	c.4918	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684244	0.29872	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01126	5.3	4.68	1.28	0.21552	.	0.000000	0.32970	U	0.005437	T	0.02230	0.0069	M	0.82056	2.57	0.80722	D	1	B	0.13594	0.008	B	0.18263	0.021	T	0.43065	-0.9414	10	0.33940	T	0.23	.	11.4768	0.50302	0.0:0.6902:0.2345:0.0753	.	1640	F8WD23	.	Q	1641;1640	ENSP00000377197:E1641Q	ENSP00000313052:E1640Q	E	-	1	0	HYDIN	69565693	0.997000	0.39634	0.973000	0.42090	0.141000	0.21300	2.904000	0.48719	0.153000	0.19213	-1.521000	0.00933	GAG	HYDIN	-	NULL		0.423	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71008192	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	0.996	G
IBTK	25998	genome.wustl.edu	37	6	82906017	82906017	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:82906017C>T	ENST00000306270.7	-	22	3721	c.3172G>A	c.(3172-3174)Gag>Aag	p.E1058K	IBTK_ENST00000503631.1_Missense_Mutation_p.E857K|IBTK_ENST00000510291.1_Missense_Mutation_p.E1043K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1058					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAACAAACCTCAATCTTATCT	0.353																																																	0													118.0	118.0	118.0					6																	82906017		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.3172G>A	6.37:g.82906017C>T	ENSP00000305721:p.Glu1058Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.E1058K	ENST00000306270.7	37	c.3172	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868906	0.72065	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.35048	1.73;1.33;1.73	5.5	4.61	0.57282	.	0.121444	0.56097	D	0.000024	T	0.19327	0.0464	M	0.61703	1.905	0.45554	D	0.998503	P;B;B;B	0.35714	0.517;0.129;0.161;0.245	B;B;B;B	0.35770	0.062;0.159;0.116;0.21	T	0.08186	-1.0734	10	0.08837	T	0.75	-2.7634	15.8012	0.78454	0.1373:0.8627:0.0:0.0	.	857;1043;1058;1058	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	1058;857;1043	ENSP00000305721:E1058K;ENSP00000422762:E857K;ENSP00000426405:E1043K	ENSP00000305721:E1058K	E	-	1	0	IBTK	82962736	0.894000	0.30519	0.974000	0.42286	0.995000	0.86356	1.678000	0.37586	1.411000	0.46957	0.558000	0.71614	GAG	IBTK	-	NULL		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	C	NM_015525		82906017	-1	no_errors	ENST00000306270	ensembl	human	known	70_37	missense	SNP	1.000	T
IDS	3423	genome.wustl.edu	37	X	148564588	148564588	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:148564588C>T	ENST00000340855.6	-	9	1551	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	IDS_ENST00000422081.2_Missense_Mutation_p.E237K|IDS_ENST00000541269.1_Missense_Mutation_p.E237K|IDS_ENST00000537071.1_Missense_Mutation_p.E51K	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	448					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGATCCTCTTCCAAGTCACGG	0.532																																																	0													130.0	108.0	115.0					X																	148564588		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1342G>A	X.37:g.148564588C>T	ENSP00000339801:p.Glu448Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.E448K	ENST00000340855.6	37	c.1342	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	9.579	1.123106	0.20959	.	.	ENSG00000010404	ENST00000340855;ENST00000537071;ENST00000541269	D;D;D	0.99889	-7.55;-3.22;-7.55	5.23	5.23	0.72850	Alkaline-phosphatase-like, core domain (1);	0.726032	0.13535	N	0.380623	D	0.98982	0.9653	N	0.20401	0.57	0.19775	N	0.999957	B;B	0.17852	0.009;0.024	B;B	0.21708	0.021;0.036	D	0.99978	1.2341	10	0.08837	T	0.75	.	9.1209	0.36786	0.0:0.7744:0.1438:0.0818	.	358;448	B4DGD7;P22304	.;IDS_HUMAN	K	448;51;237	ENSP00000339801:E448K;ENSP00000440324:E51K;ENSP00000441261:E237K	ENSP00000339801:E448K	E	-	1	0	IDS	148372493	0.005000	0.15991	0.078000	0.20375	0.196000	0.23810	0.453000	0.21811	2.181000	0.69327	0.422000	0.28245	GAA	IDS	-	superfamily_Alkaline_phosphatase_core		0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148564588	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	0.142	T
IFT81	28981	genome.wustl.edu	37	12	110628815	110628815	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:110628815G>A	ENST00000242591.5	+	13	1935	c.1429G>A	c.(1429-1431)Gaa>Aaa	p.E477K	IFT81_ENST00000552912.1_Missense_Mutation_p.E477K	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	477					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TGAAGTTGATGAAATGAAAGG	0.343																																																	0													129.0	122.0	124.0					12																	110628815		1866	4103	5969	SO:0001583	missense	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1429G>A	12.37:g.110628815G>A	ENSP00000242591:p.Glu477Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	NULL	p.E477K	ENST00000242591.5	37	c.1429	CCDS41831.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.527612	0.96431	.	.	ENSG00000122970	ENST00000552912;ENST00000242591	T;T	0.12255	2.7;2.7	5.06	5.06	0.68205	.	0.144240	0.64402	D	0.000010	T	0.28167	0.0695	L	0.46885	1.475	0.80722	D	1	D	0.65815	0.995	P	0.59171	0.853	T	0.00492	-1.1707	10	0.38643	T	0.18	-19.1386	18.8013	0.92018	0.0:0.0:1.0:0.0	.	477	Q8WYA0	IFT81_HUMAN	K	477	ENSP00000449718:E477K;ENSP00000242591:E477K	ENSP00000242591:E477K	E	+	1	0	IFT81	109113198	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	9.273000	0.95719	2.509000	0.84616	0.655000	0.94253	GAA	IFT81	-	NULL		0.343	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IFT81	HGNC	protein_coding	OTTHUMT00000403529.1	G	NM_014055		110628815	+1	no_errors	ENST00000242591	ensembl	human	known	70_37	missense	SNP	1.000	A
IGSF10	285313	genome.wustl.edu	37	3	151161083	151161083	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:151161083C>T	ENST00000282466.3	-	5	5651	c.5652G>A	c.(5650-5652)gtG>gtA	p.V1884V	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1884	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTAATGGTTTCACTTCAGTGC	0.428																																																	0													71.0	75.0	73.0					3																	151161083		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5652G>A	3.37:g.151161083C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V1884	ENST00000282466.3	37	c.5652	CCDS3160.1	3																																																																																			IGSF10	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.428	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151161083	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	silent	SNP	0.119	T
IGSF10	285313	genome.wustl.edu	37	3	151163396	151163396	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:151163396C>G	ENST00000282466.3	-	4	4372	c.4373G>C	c.(4372-4374)aGa>aCa	p.R1458T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1458					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTTGAGTGTCTAATGATTGC	0.468																																																	0													172.0	147.0	155.0					3																	151163396		2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.4373G>C	3.37:g.151163396C>G	ENSP00000282466:p.Arg1458Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R1458T	ENST00000282466.3	37	c.4373	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	3.397	-0.123023	0.06795	.	.	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66995	-0.24	4.52	1.34	0.21922	.	1.358240	0.05287	N	0.520440	T	0.50205	0.1602	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37454	-0.9705	10	0.40728	T	0.16	.	5.7703	0.18249	0.0:0.398:0.4136:0.1884	.	1458	Q6WRI0	IGS10_HUMAN	T	1458;85	ENSP00000282466:R1458T	ENSP00000282466:R1458T	R	-	2	0	IGSF10	152646086	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.059000	0.14322	0.559000	0.29153	0.650000	0.86243	AGA	IGSF10	-	NULL		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	C	NM_178822		151163396	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.000	G
IK	3550	genome.wustl.edu	37	5	140038676	140038676	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140038676G>A	ENST00000417647.2	+	12	1242	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	368	17 X 2 AA tandem repeats of R-[ED].				cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gaacgagagcgagagcgggac	0.547																																																	0													71.0	89.0	83.0					5																	140038676		2155	4276	6431	SO:0001583	missense	3550			BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1103G>A	5.37:g.140038676G>A	ENSP00000396301:p.Arg368Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPD8	Missense_Mutation	SNP	pfam_RED_N,pfam_RED_C	p.R368Q	ENST00000417647.2	37	c.1103	CCDS47280.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220803	0.79464	.	.	ENSG00000113141	ENST00000417647	T	0.18502	2.21	4.6	4.6	0.57074	.	0.213014	0.30356	N	0.009818	T	0.20333	0.0489	M	0.75447	2.3	0.38048	D	0.935676	B	0.29188	0.236	B	0.20184	0.028	T	0.12372	-1.0550	10	0.13470	T	0.59	.	16.5812	0.84715	0.0:0.0:1.0:0.0	.	368	Q13123	RED_HUMAN	Q	368	ENSP00000396301:R368Q	ENSP00000396301:R368Q	R	+	2	0	IK	140018860	0.998000	0.40836	0.998000	0.56505	0.918000	0.54935	4.556000	0.60775	2.264000	0.75181	0.655000	0.94253	CGA	IK	-	NULL		0.547	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	IK	HGNC	protein_coding	OTTHUMT00000372897.1	G	NM_006083		140038676	+1	no_errors	ENST00000417647	ensembl	human	known	70_37	missense	SNP	1.000	A
IL33	90865	genome.wustl.edu	37	9	6256139	6256139	+	Missense_Mutation	SNP	A	A	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:6256139A>T	ENST00000381434.3	+	7	797	c.784A>T	c.(784-786)Aat>Tat	p.N262Y	IL33_ENST00000417746.2_Missense_Mutation_p.N136Y|IL33_ENST00000456383.2_Missense_Mutation_p.N220Y	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	262					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTGTACTGAAAATATCTTGTT	0.373																																																	0													101.0	104.0	103.0					9																	6256139		2203	4300	6503	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.784A>T	9.37:g.6256139A>T	ENSP00000370842:p.Asn262Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	NULL	p.N262Y	ENST00000381434.3	37	c.784	CCDS6468.1	9	.	.	.	.	.	.	.	.	.	.	A	14.25	2.478114	0.44044	.	.	ENSG00000137033	ENST00000417746;ENST00000456383;ENST00000381434	T;T;T	0.51325	0.71;0.71;0.71	5.13	1.64	0.23874	.	0.377575	0.23016	N	0.052914	T	0.47395	0.1443	L	0.27053	0.805	0.09310	N	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.66084	0.879;0.941;0.941	T	0.24476	-1.0159	10	0.87932	D	0	-15.931	6.1292	0.20195	0.7044:0.0:0.2956:0.0	.	136;220;262	B4DJ35;B4E1Q9;O95760	.;.;IL33_HUMAN	Y	136;220;262	ENSP00000394039:N136Y;ENSP00000414238:N220Y;ENSP00000370842:N262Y	ENSP00000370842:N262Y	N	+	1	0	IL33	6246139	0.009000	0.17119	0.004000	0.12327	0.138000	0.21146	1.678000	0.37586	0.522000	0.28464	0.533000	0.62120	AAT	IL33	-	NULL		0.373	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	HGNC	protein_coding	OTTHUMT00000051655.1	A	NM_033439		6256139	+1	no_errors	ENST00000381434	ensembl	human	known	70_37	missense	SNP	0.001	T
IL6R	3570	genome.wustl.edu	37	1	154407108	154407108	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154407108C>G	ENST00000368485.3	+	4	1009	c.572C>G	c.(571-573)tCc>tGc	p.S191C	IL6R_ENST00000344086.4_Missense_Mutation_p.S191C	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	191	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	TACATAGTGTCCATGTGCGTC	0.537																																																	0													111.0	115.0	114.0					1																	154407108		2203	4300	6503	SO:0001583	missense	3570			X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.572C>G	1.37:g.154407108C>G	ENSP00000357470:p.Ser191Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S191C	ENST00000368485.3	37	c.572	CCDS1067.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.92|15.92	2.976677|2.976677	0.53720|0.53720	.|.	.|.	ENSG00000160712|ENSG00000160712	ENST00000476006|ENST00000368485;ENST00000344086	.|D;D	.|0.83673	.|-1.75;-1.75	4.83|4.83	2.96|2.96	0.34315|0.34315	.|Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	.|0.715669	.|0.11849	.|U	.|0.523535	T|T	0.73753|0.73753	0.3627|0.3627	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|P;P	.|0.62813	.|0.85;0.907	T|T	0.62296|0.62296	-0.6884|-0.6884	5|10	.|0.38643	.|T	.|0.18	-20.881|-20.881	6.6173|6.6173	0.22784|0.22784	0.0:0.7913:0.0:0.2087|0.0:0.7913:0.0:0.2087	.|.	.|191;191	.|P08887-2;P08887	.|.;IL6RA_HUMAN	A|C	114|191	.|ENSP00000357470:S191C;ENSP00000340589:S191C	.|ENSP00000340589:S191C	P|S	+|+	1|2	0|0	IL6R|IL6R	152673732|152673732	0.019000|0.019000	0.18553|0.18553	0.571000|0.571000	0.28486|0.28486	0.128000|0.128000	0.20619|0.20619	0.484000|0.484000	0.22308|0.22308	1.397000|1.397000	0.46682|0.46682	0.655000|0.655000	0.94253|0.94253	CCA|TCC	IL6R	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3		0.537	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6R	HGNC	protein_coding	OTTHUMT00000087911.1	C	NM_000565		154407108	+1	no_errors	ENST00000368485	ensembl	human	known	70_37	missense	SNP	0.113	G
INF2	64423	genome.wustl.edu	37	14	105180715	105180715	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:105180715G>A	ENST00000392634.4	+	21	3328	c.3216G>A	c.(3214-3216)ctG>ctA	p.L1072L	INF2_ENST00000330634.7_Silent_p.L1072L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1072					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CACGGCCCCTGGAGAGGCGTT	0.677																																																	0													36.0	43.0	41.0					14																	105180715		1924	4104	6028	SO:0001819	synonymous_variant	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3216G>A	14.37:g.105180715G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.L1072	ENST00000392634.4	37	c.3216	CCDS9989.2	14																																																																																			INF2	-	NULL		0.677	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	G	NM_022489		105180715	+1	no_errors	ENST00000392634	ensembl	human	known	70_37	silent	SNP	0.048	A
INO80	54617	genome.wustl.edu	37	15	41279304	41279304	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:41279304C>T	ENST00000361937.3	-	31	4241	c.3817G>A	c.(3817-3819)Gag>Aag	p.E1273K	INO80_ENST00000401393.3_Missense_Mutation_p.E1273K|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1273	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.E1273K(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTCTCCAACTCTTCGTCGTCT	0.463																																																	2	Substitution - Missense(2)	lung(2)											132.0	100.0	111.0					15																	41279304		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3817G>A	15.37:g.41279304C>T	ENSP00000355205:p.Glu1273Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1273K	ENST00000361937.3	37	c.3817	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.438661	0.96168	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	T;T	0.08370	3.1;3.1	4.97	4.97	0.65823	.	0.050734	0.85682	D	0.000000	T	0.24928	0.0605	L	0.52364	1.645	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.00201	-1.1926	10	0.66056	D	0.02	.	18.7846	0.91949	0.0:1.0:0.0:0.0	.	1273	Q9ULG1	INO80_HUMAN	K	67;1273;1273	ENSP00000355205:E1273K;ENSP00000384686:E1273K	ENSP00000263793:E67K	E	-	1	0	INO80	39066596	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.606000	0.82863	2.753000	0.94483	0.557000	0.71058	GAG	INO80	-	NULL		0.463	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41279304	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	missense	SNP	1.000	T
INPPL1	3636	genome.wustl.edu	37	11	71941061	71941062	+	Splice_Site	DNP	GA	GA	AT			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:71941061_71941062GA>AT	ENST00000298229.2	+	8	1141_1142	c.937_938GA>AT	c.(937-939)GAg>ATg	p.E313M	INPPL1_ENST00000538751.1_Splice_Site_p.E71M|INPPL1_ENST00000541756.1_Splice_Site_p.E71M	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	313					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCAGGCCTTTGAGGTACATGGC	0.639																																																	0																																										SO:0001630	splice_region_variant	3636			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	Exception_encountered	11.37:g.71941061_71941062delinsAT		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.E313K|p.E313V	ENST00000298229.2	37	c.937|c.938	CCDS8213.1	11																																																																																			INPPL1	-	NULL		0.639	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	G|A	NM_001567	Missense_Mutation	71941061|71941062	+1	no_errors	ENST00000298229	ensembl	human	known	70_37	missense	SNP	1.000	A|T
INSR	3643	genome.wustl.edu	37	19	7119532	7119532	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7119532G>C	ENST00000302850.5	-	21	3864	c.3722C>G	c.(3721-3723)tCt>tGt	p.S1241C	INSR_ENST00000341500.5_Missense_Mutation_p.S1229C	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGTTCATTAGACAGGCCTTG	0.468																																																	0													170.0	139.0	149.0					19																	7119532		2203	4300	6503	SO:0001583	missense	3643			M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3722C>G	19.37:g.7119532G>C	ENSP00000303830:p.Ser1241Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1241C	ENST00000302850.5	37	c.3722	CCDS12176.1	19	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567550	0.86439	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.90444	-2.67;-2.67	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45867	D	0.000335	D	0.95576	0.8562	M	0.88310	2.945	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.64410	0.826;0.925	D	0.96392	0.9290	10	0.87932	D	0	.	15.8435	0.78868	0.0:0.0:1.0:0.0	.	1229;1241	P06213-2;P06213	.;INSR_HUMAN	C	1241;1229	ENSP00000303830:S1241C;ENSP00000342838:S1229C	ENSP00000303830:S1241C	S	-	2	0	INSR	7070532	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	9.437000	0.97535	2.322000	0.78497	0.449000	0.29647	TCT	INSR	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Prot_kinase_cat_dom		0.468	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSR	HGNC	protein_coding	OTTHUMT00000458544.1	G			7119532	-1	no_errors	ENST00000302850	ensembl	human	known	70_37	missense	SNP	1.000	C
INTS1	26173	genome.wustl.edu	37	7	1523759	1523759	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:1523759G>C	ENST00000404767.3	-	25	3394	c.3309C>G	c.(3307-3309)ctC>ctG	p.L1103L	INTS1_ENST00000389470.4_Silent_p.L1265L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1103					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCTTCGAGAAGAGGTGGGACA	0.662																																																	0													62.0	73.0	69.0					7																	1523759		2125	4225	6350	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3309C>G	7.37:g.1523759G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	pfam_DUF3677,superfamily_ARM-type_fold	p.L1265	ENST00000404767.3	37	c.3795	CCDS47526.1	7																																																																																			INTS1	-	NULL		0.662	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	G			1523759	-1	no_errors	ENST00000389470	ensembl	human	known	70_37	silent	SNP	1.000	C
IPO11	51194	genome.wustl.edu	37	5	61822025	61822025	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:61822025G>A	ENST00000325324.6	+	21	2122	c.1953G>A	c.(1951-1953)ctG>ctA	p.L651L	IPO11_ENST00000409296.3_Silent_p.L691L|KIF2A_ENST00000509663.2_3'UTR	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	651					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTATTCAACTGAGTACAGATG	0.363																																																	0													127.0	120.0	122.0					5																	61822025		2203	4300	6503	SO:0001819	synonymous_variant	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1953G>A	5.37:g.61822025G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L691	ENST00000325324.6	37	c.2073	CCDS34167.1	5																																																																																			IPO11	-	superfamily_ARM-type_fold		0.363	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	G	NM_016338		61822025	+1	no_errors	ENST00000409296	ensembl	human	known	70_37	silent	SNP	1.000	A
IQCE	23288	genome.wustl.edu	37	7	2637913	2637913	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:2637913C>T	ENST00000402050.2	+	17	1624				IQCE_ENST00000404984.1_Intron|IQCE_ENST00000325979.7_Intron|IQCE_ENST00000438376.2_Intron	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E							mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CGCTGTCTCTCAGCAGTACAA	0.547																																																	0																																										SO:0001627	intron_variant	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1441-186C>T	7.37:g.2637913C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	RNA	SNP	-	NULL	ENST00000402050.2	37	NULL	CCDS43542.1	7																																																																																			IQCE	-	-		0.547	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IQCE	HGNC	protein_coding	OTTHUMT00000325063.2	C	NM_152558		2637913	+1	no_errors	ENST00000486730	ensembl	human	known	70_37	rna	SNP	0.000	T
IQGAP2	10788	genome.wustl.edu	37	5	75896663	75896663	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:75896663G>C	ENST00000274364.6	+	11	1395	c.1098G>C	c.(1096-1098)ttG>ttC	p.L366F	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	366					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGAGCTTTTGATTGCTGTGG	0.463																																																	0													151.0	135.0	141.0					5																	75896663		2203	4300	6503	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.1098G>C	5.37:g.75896663G>C	ENSP00000274364:p.Leu366Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L366F	ENST00000274364.6	37	c.1098	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	6.109	0.388378	0.11581	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.07327	3.2;3.2;3.2	5.55	1.42	0.22433	.	0.553805	0.19759	N	0.106711	T	0.02970	0.0088	N	0.11427	0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38887	-0.9640	10	0.08837	T	0.75	-0.9293	2.8479	0.05549	0.0851:0.2194:0.3654:0.3301	.	366	Q13576	IQGA2_HUMAN	F	366;339;316	ENSP00000274364:L366F;ENSP00000423672:L339F;ENSP00000421097:L316F	ENSP00000274364:L366F	L	+	3	2	IQGAP2	75932419	0.021000	0.18746	0.822000	0.32727	0.975000	0.68041	0.136000	0.15974	0.766000	0.33244	0.563000	0.77884	TTG	IQGAP2	-	NULL		0.463	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	G	NM_006633		75896663	+1	no_errors	ENST00000274364	ensembl	human	known	70_37	missense	SNP	0.959	C
ITFG3	83986	genome.wustl.edu	37	16	314676	314676	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:314676G>C	ENST00000399932.3	+	12	1859	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	ITFG3_ENST00000600536.1_Missense_Mutation_p.E470Q|ITFG3_ENST00000450082.2_Missense_Mutation_p.E470Q|ITFG3_ENST00000301678.3_Missense_Mutation_p.E470Q|ITFG3_ENST00000442458.2_Missense_Mutation_p.E470Q|ITFG3_ENST00000301679.2_Missense_Mutation_p.E470Q	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	470						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGTGCTGCTGGAGCTGGCCAA	0.672																																																	0													40.0	48.0	46.0					16																	314676		2137	4242	6379	SO:0001583	missense	83986			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1408G>C	16.37:g.314676G>C	ENSP00000382814:p.Glu470Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E470Q	ENST00000399932.3	37	c.1408	CCDS10402.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.440792|3.440792	0.63067|0.63067	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082|ENST00000424016	.|.	.|.	.|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.048802|.	0.85682|.	D|.	0.000000|.	T|T	0.77039|0.77039	0.4072|0.4072	M|M	0.80183|0.80183	2.485|2.485	0.51233|0.51233	D|D	0.999917|0.999917	D;D|.	0.71674|.	0.998;0.998|.	P;P|.	0.62491|.	0.903;0.903|.	T|T	0.78494|0.78494	-0.2182|-0.2182	9|5	0.72032|.	D|.	0.01|.	-10.0002|-10.0002	15.81|15.81	0.78552|0.78552	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	470;470|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	Q|C	470|109	.|.	ENSP00000301678:E470Q|.	E|W	+|+	1|3	0|0	ITFG3|ITFG3	254677|254677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.883000|0.883000	0.51084|0.51084	3.376000|3.376000	0.52417|0.52417	2.395000|2.395000	0.81488|0.81488	0.555000|0.555000	0.69702|0.69702	GAG|TGG	ITFG3	-	NULL		0.672	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	G	NM_032039		314676	+1	no_errors	ENST00000301678	ensembl	human	known	70_37	missense	SNP	1.000	C
ITGA11	22801	genome.wustl.edu	37	15	68613817	68613817	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:68613817C>G	ENST00000315757.7	-	19	2433	c.2347G>C	c.(2347-2349)Gag>Cag	p.E783Q	ITGA11_ENST00000423218.2_Missense_Mutation_p.E783Q	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	783					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						TGCTCATCCTCATTGCAGCCG	0.652																																																	0													46.0	57.0	53.0					15																	68613817		2117	4224	6341	SO:0001583	missense	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2347G>C	15.37:g.68613817C>G	ENSP00000327290:p.Glu783Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.E783Q	ENST00000315757.7	37	c.2347	CCDS45291.1	15	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818986	0.32145	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.52526	0.66;0.66	5.21	4.27	0.50696	Integrin alpha-2 (1);	0.097518	0.64402	N	0.000001	T	0.38692	0.1050	L	0.37507	1.11	0.40597	D	0.981542	B;B	0.26672	0.156;0.07	B;B	0.29267	0.1;0.078	T	0.18745	-1.0327	10	0.27082	T	0.32	.	13.306	0.60352	0.0:0.6964:0.3036:0.0	.	783;783	A8K8T0;Q9UKX5	.;ITA11_HUMAN	Q	783;783;418	ENSP00000327290:E783Q;ENSP00000403392:E783Q	ENSP00000327290:E783Q	E	-	1	0	ITGA11	66400871	0.540000	0.26410	0.998000	0.56505	0.989000	0.77384	1.046000	0.30354	1.156000	0.42514	0.561000	0.74099	GAG	ITGA11	-	pfam_Integrin_alpha-2		0.652	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA11	HGNC	protein_coding		C	NM_012211		68613817	-1	no_errors	ENST00000315757	ensembl	human	known	70_37	missense	SNP	0.989	G
ITGA3	3675	genome.wustl.edu	37	17	48156607	48156607	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48156607C>G	ENST00000320031.8	+	20	2898	c.2568C>G	c.(2566-2568)ctC>ctG	p.L856L	ITGA3_ENST00000007722.7_Silent_p.L856L	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	856					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCAACCCTCTCAACCTCACTC	0.537																																																	0													149.0	139.0	143.0					17																	48156607		2203	4300	6503	SO:0001819	synonymous_variant	3675			M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.2568C>G	17.37:g.48156607C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L856	ENST00000320031.8	37	c.2568	CCDS11558.1	17																																																																																			ITGA3	-	pfam_Integrin_alpha-2		0.537	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGA3	HGNC	protein_coding	OTTHUMT00000366298.1	C	NM_005501		48156607	+1	no_errors	ENST00000320031	ensembl	human	known	70_37	silent	SNP	0.998	G
ITGA7	3679	genome.wustl.edu	37	12	56092581	56092581	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56092581C>T	ENST00000555728.1	-	7	1071	c.1043G>A	c.(1042-1044)cGc>cAc	p.R348H	ITGA7_ENST00000394229.2_Missense_Mutation_p.R304H|ITGA7_ENST00000257880.7_Missense_Mutation_p.R348H|ITGA7_ENST00000394230.2_Missense_Mutation_p.R308H|ITGA7_ENST00000347027.6_Missense_Mutation_p.R304H|ITGA7_ENST00000553804.1_Missense_Mutation_p.R308H|ITGA7_ENST00000452168.2_Missense_Mutation_p.R211H|ITGA7_ENST00000257879.6_Missense_Mutation_p.R304H			Q13683	ITA7_HUMAN	integrin, alpha 7	348					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGGCACCAGGCGACTGGCGCT	0.622																																																	0													60.0	49.0	53.0					12																	56092581		2203	4300	6503	SO:0001583	missense	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.1043G>A	12.37:g.56092581C>T	ENSP00000452387:p.Arg348His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.R348H	ENST00000555728.1	37	c.1043		12	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363145	0.41902	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728;ENST00000557257	T;T;T;T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;-0.58;1.46	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000003	T	0.63283	0.2498	N	0.16790	0.44	0.47659	D	0.999482	B;B;B;D	0.67145	0.046;0.061;0.076;0.996	B;B;B;P	0.60415	0.013;0.01;0.035;0.874	T	0.57289	-0.7837	10	0.11794	T	0.64	.	8.56	0.33505	0.0:0.8963:0.0:0.1037	.	211;348;308;367	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	H	308;304;304;211;348;308;304;348;348;146	ENSP00000452120:R308H;ENSP00000257879:R304H;ENSP00000343009:R304H;ENSP00000393844:R211H;ENSP00000257880:R348H;ENSP00000377777:R308H;ENSP00000377776:R304H;ENSP00000452387:R348H;ENSP00000450578:R146H	ENSP00000257879:R304H	R	-	2	0	ITGA7	54378848	0.735000	0.28153	1.000000	0.80357	0.968000	0.65278	1.083000	0.30815	2.489000	0.83994	0.491000	0.48974	CGC	ITGA7	-	smart_Int_alpha_beta-p		0.622	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	C	NM_002206		56092581	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGA9	3680	genome.wustl.edu	37	3	37565067	37565067	+	Missense_Mutation	SNP	C	C	T	rs374117373		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:37565067C>T	ENST00000264741.5	+	12	1548	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	ITGA9_ENST00000422441.1_Missense_Mutation_p.S431L	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	431					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGTCCATATCGGGAGGCATT	0.398																																																	0								C	LEU/SER	0,4406		0,0,2203	131.0	121.0	125.0		1292	6.0	1.0	3		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA9	NM_002207.2	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	431/1036	37565067	1,13005	2203	4300	6503	SO:0001583	missense	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.1292C>T	3.37:g.37565067C>T	ENSP00000264741:p.Ser431Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14638	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.S431L	ENST00000264741.5	37	c.1292	CCDS2669.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.638332	0.96693	0.0	1.16E-4	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.56444	0.46;0.46	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.80154	0.4571	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.981;0.989	T	0.83056	-0.0150	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	431;431	Q13797;E9PDS3	ITA9_HUMAN;.	L	431	ENSP00000397258:S431L;ENSP00000264741:S431L	ENSP00000264741:S431L	S	+	2	0	ITGA9	37540071	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	TCG	ITGA9	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.398	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA9	HGNC	protein_coding	OTTHUMT00000253361.1	C	NM_002207		37565067	+1	no_errors	ENST00000264741	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGAM	3684	genome.wustl.edu	37	16	31282320	31282320	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31282320C>G	ENST00000287497.8	+	6	548	c.473C>G	c.(472-474)tCt>tGt	p.S158C	ITGAM_ENST00000544665.3_Missense_Mutation_p.S158C			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	158	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATTGATGGCTCTGGTAGCATC	0.468																																																	0													224.0	208.0	213.0					16																	31282320		1947	4155	6102	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.473C>G	16.37:g.31282320C>G	ENSP00000287497:p.Ser158Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.S158C	ENST00000287497.8	37	c.473	CCDS45470.1	16	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273008	0.80580	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.98633	-5.04;-5.04	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.99486	0.9817	H	0.96748	3.875	0.47584	D	0.999468	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98304	1.0520	9	0.87932	D	0	.	18.5274	0.90978	0.0:1.0:0.0:0.0	.	158;158	Q4VAK1;P11215	.;ITAM_HUMAN	C	158	ENSP00000441691:S158C;ENSP00000287497:S158C	ENSP00000287497:S158C	S	+	2	0	ITGAM	31189821	0.994000	0.37717	1.000000	0.80357	0.791000	0.44710	4.438000	0.59961	2.758000	0.94735	0.561000	0.74099	TCT	ITGAM	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.468	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	HGNC	protein_coding	OTTHUMT00000432816.1	C	NM_000632		31282320	+1	no_errors	ENST00000544665	ensembl	human	known	70_37	missense	SNP	1.000	G
ITGAX	3687	genome.wustl.edu	37	16	31372399	31372399	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31372399C>G	ENST00000268296.4	+	9	998	c.877C>G	c.(877-879)Caa>Gaa	p.Q293E	ITGAX_ENST00000562522.1_Missense_Mutation_p.Q293E	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	293	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ATTAGCTTTTCAAAACAGAAA	0.383																																																	0													98.0	108.0	104.0					16																	31372399		2197	4300	6497	SO:0001583	missense	3687			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.877C>G	16.37:g.31372399C>G	ENSP00000268296:p.Gln293Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVA6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.Q293E	ENST00000268296.4	37	c.877	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	3.429	-0.116588	0.06838	.	.	ENSG00000140678	ENST00000268296	T	0.77229	-1.08	5.07	-1.86	0.07760	von Willebrand factor, type A (3);	.	.	.	.	T	0.56601	0.1996	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.12156	0.007	T	0.38222	-0.9671	9	0.09338	T	0.73	.	3.2963	0.06968	0.1301:0.2169:0.4738:0.1792	.	293	P20702	ITAX_HUMAN	E	293	ENSP00000268296:Q293E	ENSP00000268296:Q293E	Q	+	1	0	ITGAX	31279900	0.004000	0.15560	0.072000	0.20136	0.032000	0.12392	-0.485000	0.06520	-0.039000	0.13602	-0.203000	0.12734	CAA	ITGAX	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.383	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	HGNC	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31372399	+1	no_errors	ENST00000268296	ensembl	human	known	70_37	missense	SNP	0.018	G
ITGB7	3695	genome.wustl.edu	37	12	53591317	53591318	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53591317_53591318insA	ENST00000267082.5	-	5	764_765	c.533_534insT	c.(532-534)ctgfs	p.L178fs	ITGB7_ENST00000550743.2_Frame_Shift_Ins_p.L178fs|ITGB7_ENST00000422257.3_Frame_Shift_Ins_p.L178fs|ITGB7_ENST00000338737.4_Frame_Shift_Ins_p.L178fs	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	178	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCGGACCAGCAGAGCGTGCCC	0.619																																																	0																																										SO:0001589	frameshift_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.534dupT	12.37:g.53591318_53591318dupA	ENSP00000267082:p.Leu178fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UCP7|Q9UCS7	Frame_Shift_Ins	INS	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L179fs	ENST00000267082.5	37	c.534_533	CCDS8849.1	12																																																																																			ITGB7	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.619	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	-			53591318	-1	no_errors	ENST00000267082	ensembl	human	known	70_37	frame_shift_ins	INS	0.993:0.995	A
ITGB7	3695	genome.wustl.edu	37	12	53591319	53591319	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53591319G>A	ENST00000267082.5	-	5	763	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	ITGB7_ENST00000550743.2_Silent_p.L178L|ITGB7_ENST00000422257.3_Silent_p.L178L|ITGB7_ENST00000338737.4_Silent_p.L178L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	178	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGGACCAGCAGAGCGTGCCCG	0.617																																																	0													81.0	72.0	75.0					12																	53591319		2203	4300	6503	SO:0001819	synonymous_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.532C>T	12.37:g.53591319G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UCP7|Q9UCS7	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L178	ENST00000267082.5	37	c.532	CCDS8849.1	12																																																																																			ITGB7	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.617	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	G			53591319	-1	no_errors	ENST00000267082	ensembl	human	known	70_37	silent	SNP	0.966	A
ITIH2	3698	genome.wustl.edu	37	10	7769676	7769676	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:7769676C>G	ENST00000358415.4	+	11	1330	c.1164C>G	c.(1162-1164)atC>atG	p.I388M	ITIH2_ENST00000379587.4_Missense_Mutation_p.I377M	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	388	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCACAAACATCAACGAAGCAC	0.453																																																	0													176.0	140.0	152.0					10																	7769676		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1164C>G	10.37:g.7769676C>G	ENSP00000351190:p.Ile388Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I388M	ENST00000358415.4	37	c.1164	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270431	0.40194	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	D;D	0.85171	-1.95;-1.95	4.77	2.41	0.29592	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.67397	2.05	0.51482	D	0.999929	D	0.89917	1.0	D	0.97110	1.0	D	0.88441	0.3042	10	0.87932	D	0	-29.8102	7.9817	0.30188	0.0:0.6778:0.0:0.3222	.	388	P19823	ITIH2_HUMAN	M	388;377	ENSP00000351190:I388M;ENSP00000368906:I377M	ENSP00000351190:I388M	I	+	3	3	ITIH2	7809682	1.000000	0.71417	0.997000	0.53966	0.390000	0.30446	2.410000	0.44592	1.076000	0.40961	0.551000	0.68910	ATC	ITIH2	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.453	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	C	NM_002216		7769676	+1	no_errors	ENST00000358415	ensembl	human	known	70_37	missense	SNP	1.000	G
ITPR2	3709	genome.wustl.edu	37	12	26816701	26816701	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:26816701G>C	ENST00000381340.3	-	15	2046	c.1630C>G	c.(1630-1632)Caa>Gaa	p.Q544E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	544					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GCATATCTTTGATCCCCCAGA	0.483																																																	0													269.0	265.0	266.0					12																	26816701		1889	4125	6014	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1630C>G	12.37:g.26816701G>C	ENSP00000370744:p.Gln544Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.Q544E	ENST00000381340.3	37	c.1630	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534106	0.85812	.	.	ENSG00000123104	ENST00000381340	D	0.88975	-2.45	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.92632	0.7659	M	0.72576	2.205	0.80722	D	1	P	0.51537	0.946	P	0.62298	0.9	D	0.89677	0.3888	10	0.13470	T	0.59	.	18.2276	0.89923	0.0:0.0:1.0:0.0	.	544	Q14571	ITPR2_HUMAN	E	544	ENSP00000370744:Q544E	ENSP00000370744:Q544E	Q	-	1	0	ITPR2	26707968	1.000000	0.71417	0.987000	0.45799	0.981000	0.71138	9.640000	0.98453	2.596000	0.87737	0.655000	0.94253	CAA	ITPR2	-	pfam_Ca-rel_channel		0.483	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	G	NM_002223		26816701	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	1.000	C
ITSN2	50618	genome.wustl.edu	37	2	24439053	24439053	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:24439053C>T	ENST00000355123.4	-	32	4298	c.3855G>A	c.(3853-3855)caG>caA	p.Q1285Q	ITSN2_ENST00000361999.3_Silent_p.Q1258Q|AC009228.1_ENST00000413989.1_RNA|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1285	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.			GEKMPVQ -> VDAAANS (in Ref. 6; AAD00899). {ECO:0000305}.	endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAATCATCTGCACCGGCA	0.527																																																	0													99.0	93.0	95.0					2																	24439053		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3855G>A	2.37:g.24439053C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.Q1285	ENST00000355123.4	37	c.3855	CCDS1710.2	2																																																																																			ITSN2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.527	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	C	NM_006277		24439053	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	silent	SNP	1.000	T
IYD	389434	genome.wustl.edu	37	6	150690249	150690249	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:150690249G>C	ENST00000344419.3	+	1	222	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	IYD_ENST00000229447.5_Missense_Mutation_p.E28Q|IYD_ENST00000392255.3_Missense_Mutation_p.E28Q|IYD_ENST00000392256.2_Missense_Mutation_p.E28Q|IYD_ENST00000425615.3_5'Flank|IYD_ENST00000500320.3_Missense_Mutation_p.E28Q	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	28					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CAGAAGCATGGAGAAAAAGAA	0.493																																																	0													125.0	140.0	135.0					6																	150690249		2203	4300	6503	SO:0001583	missense	389434			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.82G>C	6.37:g.150690249G>C	ENSP00000343763:p.Glu28Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Missense_Mutation	SNP	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	p.E28Q	ENST00000344419.3	37	c.82	CCDS5227.1	6	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287508	0.05605	.	.	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320	D;T;D;D;D	0.87179	-2.22;-0.55;-2.15;-2.18;-2.2	4.71	-3.53	0.04667	.	0.782790	0.12122	N	0.497615	T	0.64594	0.2612	M	0.65975	2.015	0.09310	N	0.999991	P;P;B	0.37276	0.454;0.589;0.01	B;B;B	0.30943	0.107;0.122;0.006	T	0.58211	-0.7676	10	0.19590	T	0.45	-16.1508	7.0644	0.25143	0.2887:0.511:0.2002:0.0	.	28;28;28	C9JFW2;Q6PHW0-3;Q6PHW0	.;.;IYD1_HUMAN	Q	28	ENSP00000229447:E28Q;ENSP00000343763:E28Q;ENSP00000376085:E28Q;ENSP00000376084:E28Q;ENSP00000441276:E28Q	ENSP00000229447:E28Q	E	+	1	0	IYD	150731942	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.477000	0.06583	-0.596000	0.05821	-0.300000	0.09419	GAG	IYD	-	NULL		0.493	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IYD	HGNC	protein_coding	OTTHUMT00000043754.3	G	NM_203395		150690249	+1	no_errors	ENST00000229447	ensembl	human	known	70_37	missense	SNP	0.000	C
JAKMIP1	152789	genome.wustl.edu	37	4	6087285	6087285	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:6087285C>T	ENST00000282924.5	-	4	1181	c.696G>A	c.(694-696)caG>caA	p.Q232Q	JAKMIP1_ENST00000409021.3_Silent_p.Q232Q|JAKMIP1_ENST00000409831.1_Silent_p.Q232Q|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409371.3_Silent_p.Q67Q|JAKMIP1_ENST00000410077.2_Silent_p.Q67Q	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	232	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCTGGGTCTGCCCAGCCT	0.542																																																	0													124.0	124.0	124.0					4																	6087285		2203	4300	6503	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.696G>A	4.37:g.6087285C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.Q232	ENST00000282924.5	37	c.696	CCDS3385.1	4																																																																																			JAKMIP1	-	NULL		0.542	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	C	NM_144720		6087285	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	silent	SNP	0.999	T
JTB	10899	genome.wustl.edu	37	1	153949189	153949189	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:153949189G>A	ENST00000271843.4	-	3	619	c.184C>T	c.(184-186)Cca>Tca	p.P62S	JTB_ENST00000356648.1_Missense_Mutation_p.P33S|RP11-422P24.11_ENST00000608236.1_lincRNA|JTB_ENST00000368589.1_Missense_Mutation_p.P33S|JTB_ENST00000471173.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	62					apoptotic mitochondrial changes (GO:0008637)|cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|positive regulation of protein kinase activity (GO:0045860)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)	protein kinase binding (GO:0019901)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTAGAGCATGGAGAGCACTCT	0.423																																																	0													98.0	98.0	98.0					1																	153949189		2203	4300	6503	SO:0001583	missense	10899			AB016488	CCDS1057.1	1q21	2010-11-16			ENSG00000143543	ENSG00000143543			6201	protein-coding gene	gene with protein product	"""prostate androgen-regulated gene"""	604671				10321732	Standard	NM_006694		Approved	hJT	uc001fds.3	O76095	OTTHUMG00000036590	ENST00000271843.4:c.184C>T	1.37:g.153949189G>A	ENSP00000271843:p.Pro62Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O95442|Q6IB19|Q9P0Q4	Missense_Mutation	SNP	pfam_JTB	p.P62S	ENST00000271843.4	37	c.184	CCDS1057.1	1	.	.	.	.	.	.	.	.	.	.	G	7.079	0.569833	0.13560	.	.	ENSG00000143543	ENST00000271843;ENST00000356648;ENST00000368589;ENST00000428469	T	0.49139	0.79	5.2	3.31	0.37934	.	0.298852	0.32719	N	0.005733	T	0.16854	0.0405	L	0.47016	1.485	0.20703	N	0.999869	B	0.16603	0.018	B	0.22152	0.038	T	0.20140	-1.0284	10	0.18710	T	0.47	-9.2873	7.0285	0.24954	0.0917:0.1748:0.7335:0.0	.	62	O76095	JTB_HUMAN	S	62;33;33;33	ENSP00000271843:P62S	ENSP00000271843:P62S	P	-	1	0	JTB	152215813	0.583000	0.26757	0.027000	0.17364	0.151000	0.21798	3.972000	0.56838	0.867000	0.35654	0.655000	0.94253	CCA	JTB	-	pfam_JTB		0.423	JTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JTB	HGNC	protein_coding	OTTHUMT00000088996.1	G	NM_006694		153949189	-1	no_errors	ENST00000271843	ensembl	human	known	70_37	missense	SNP	0.166	A
JUNB	3726	genome.wustl.edu	37	19	12903464	12903464	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:12903464C>G	ENST00000302754.4	+	1	1155	c.879C>G	c.(877-879)atC>atG	p.I293M		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	293	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TGGAGCGCATCGCGCGCCTGG	0.657																																																	0													12.0	13.0	13.0					19																	12903464		2161	4266	6427	SO:0001583	missense	3726			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.879C>G	19.37:g.12903464C>G	ENSP00000303315:p.Ile293Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96GH3	Missense_Mutation	SNP	pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.I293M	ENST00000302754.4	37	c.879	CCDS12280.1	19	.	.	.	.	.	.	.	.	.	.	C	18.51	3.640709	0.67244	.	.	ENSG00000171223	ENST00000302754	T	0.57436	0.4	3.48	2.32	0.28847	Basic-leucine zipper (bZIP) transcription factor (2);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	U	0.000000	T	0.71921	0.3397	M	0.85859	2.78	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.77138	-0.2698	10	0.87932	D	0	-9.9386	11.3346	0.49496	0.1809:0.8191:0.0:0.0	.	293	P17275	JUNB_HUMAN	M	293	ENSP00000303315:I293M	ENSP00000303315:I293M	I	+	3	3	JUNB	12764464	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.634000	0.24614	1.678000	0.50952	0.448000	0.29417	ATC	JUNB	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun		0.657	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1	C	NM_002229		12903464	+1	no_errors	ENST00000302754	ensembl	human	known	70_37	missense	SNP	1.000	G
KANK4	163782	genome.wustl.edu	37	1	62738964	62738964	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:62738964C>T	ENST00000371153.4	-	3	2190	c.1812G>A	c.(1810-1812)ctG>ctA	p.L604L	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	604						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TGAGGGAGCTCAGCAGCTGGC	0.652																																																	0													23.0	26.0	25.0					1																	62738964		2203	4300	6503	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1812G>A	1.37:g.62738964C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L604	ENST00000371153.4	37	c.1812	CCDS620.1	1																																																																																			KANK4	-	NULL		0.652	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	C	NM_181712		62738964	-1	no_errors	ENST00000371153	ensembl	human	known	70_37	silent	SNP	0.948	T
KATNA1	11104	genome.wustl.edu	37	6	149918311	149918311	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:149918311C>T	ENST00000335647.5	-	9	1209	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	KATNA1_ENST00000367411.2_Missense_Mutation_p.E389K|KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Intron|SNORA2_ENST00000365473.1_RNA					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CGTAATAGCTCCTCCCTGCCT	0.378																																																	0													135.0	122.0	126.0					6																	149918311		2202	4300	6502	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1165G>A	6.37:g.149918311C>T	ENSP00000335106:p.Glu389Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.E389K	ENST00000335647.5	37	c.1165	CCDS5217.1	6	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288951	0.80914	.	.	ENSG00000186625	ENST00000335647;ENST00000367411	D;D	0.95035	-3.59;-3.59	5.54	5.54	0.83059	.	0.046819	0.85682	D	0.000000	D	0.91640	0.7358	L	0.43598	1.365	0.80722	D	1	P	0.38420	0.63	B	0.43867	0.434	D	0.90536	0.4499	9	.	.	.	.	19.4802	0.95007	0.0:1.0:0.0:0.0	.	389	O75449	KTNA1_HUMAN	K	389	ENSP00000335106:E389K;ENSP00000356381:E389K	.	E	-	1	0	KATNA1	149960004	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	7.818000	0.86416	2.598000	0.87819	0.563000	0.77884	GAG	KATNA1	-	NULL		0.378	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNA1	HGNC	protein_coding	OTTHUMT00000042641.2	C	NM_007044		149918311	-1	no_errors	ENST00000335647	ensembl	human	known	70_37	missense	SNP	1.000	T
KATNA1	11104	genome.wustl.edu	37	6	149919411	149919411	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:149919411C>G	ENST00000335647.5	-	7	1008	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	KATNA1_ENST00000367411.2_Missense_Mutation_p.E322Q|KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.E246Q					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		GCTTCATGTTCTTCAGAAGTC	0.458																																																	0													131.0	124.0	126.0					6																	149919411		2203	4300	6503	SO:0001583	missense	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.964G>C	6.37:g.149919411C>G	ENSP00000335106:p.Glu322Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.E322Q	ENST00000335647.5	37	c.964	CCDS5217.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.416466	0.96092	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	D;D;D	0.95069	-3.6;-3.23;-3.6	5.59	5.59	0.84812	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.96454	0.8843	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.971;0.998	D	0.95108	0.8236	9	.	.	.	.	19.9394	0.97153	0.0:1.0:0.0:0.0	.	322;246;322	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	Q	322;246;322	ENSP00000335106:E322Q;ENSP00000335180:E246Q;ENSP00000356381:E322Q	.	E	-	1	0	KATNA1	149961104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.791000	0.96007	0.591000	0.81541	GAA	KATNA1	-	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase		0.458	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNA1	HGNC	protein_coding	OTTHUMT00000042641.2	C	NM_007044		149919411	-1	no_errors	ENST00000335647	ensembl	human	known	70_37	missense	SNP	1.000	G
KAZN	23254	genome.wustl.edu	37	1	15386730	15386730	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:15386730G>A	ENST00000376030.2	+	6	1273	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	KAZN_ENST00000361144.5_Missense_Mutation_p.E321K|KAZN_ENST00000503743.1_Missense_Mutation_p.E327K|KAZN_ENST00000400797.3_Missense_Mutation_p.E233K|KAZN_ENST00000400798.2_Missense_Mutation_p.E233K|KAZN_ENST00000422387.2_Missense_Mutation_p.E327K	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	327	Interaction with PPL.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ATCTGCCGCCGAAGGCGACCG	0.667																																																	0													89.0	91.0	90.0					1																	15386730		2203	4300	6503	SO:0001583	missense	23254			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.979G>A	1.37:g.15386730G>A	ENSP00000365198:p.Glu327Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E327K	ENST00000376030.2	37	c.979	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	34	5.306594	0.95629	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T	0.19394	2.15	5.37	5.37	0.77165	.	0.049637	0.85682	D	0.000000	T	0.27098	0.0664	L	0.34521	1.04	0.58432	D	0.999991	D;P;D;D	0.69078	0.975;0.89;0.975;0.997	B;B;B;P	0.51742	0.4;0.197;0.374;0.678	T	0.00792	-1.1564	10	0.30078	T	0.28	-22.4433	18.1017	0.89508	0.0:0.0:1.0:0.0	.	327;233;321;327	Q674X7-2;Q674X7-4;Q674X7-3;Q674X7	.;.;.;KAZRN_HUMAN	K	327;327;327;321;233;233	ENSP00000365198:E327K	ENSP00000354727:E321K	E	+	1	0	KAZN	15259317	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.238000	0.95380	2.528000	0.85240	0.561000	0.74099	GAA	KAZN	-	NULL		0.667	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	HGNC	protein_coding	OTTHUMT00000005690.2	G	NM_001017999		15386730	+1	no_errors	ENST00000376030	ensembl	human	known	70_37	missense	SNP	1.000	A
KBTBD12	166348	genome.wustl.edu	37	3	127703061	127703061	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:127703061G>A	ENST00000405109.1	+	6	2279	c.1812G>A	c.(1810-1812)atG>atA	p.M604I	KBTBD12_ENST00000405256.1_Missense_Mutation_p.M604I|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000407609.3_Missense_Mutation_p.M211I|KBTBD12_ENST00000343941.4_Missense_Mutation_p.M179I			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	604										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TAGCCAGGATGAATCCCCGAG	0.502																																																	0													134.0	122.0	126.0					3																	127703061		2203	4300	6503	SO:0001583	missense	166348				CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1812G>A	3.37:g.127703061G>A	ENSP00000385957:p.Met604Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCC6|Q6ZRK1	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.M604I	ENST00000405109.1	37	c.1812	CCDS33848.2	3	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785964	0.70337	.	.	ENSG00000187715	ENST00000405109;ENST00000407609;ENST00000405256;ENST00000343941	T;T;T;D	0.81739	-0.75;-0.55;-0.75;-1.53	6.08	6.08	0.98989	.	0.250811	0.35067	N	0.003478	T	0.69178	0.3082	N	0.08118	0	0.49483	D	0.999798	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.63427	-0.6640	10	0.66056	D	0.02	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	604;179	Q3ZCT8;Q3ZCT8-2	KBTBC_HUMAN;.	I	604;211;604;179	ENSP00000385957:M604I;ENSP00000385830:M211I;ENSP00000385879:M604I;ENSP00000345478:M179I	ENSP00000345478:M179I	M	+	3	0	KBTBD12	129185751	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.511000	0.53400	2.894000	0.99253	0.591000	0.81541	ATG	KBTBD12	-	pirsf_Kelch-like_gigaxonin		0.502	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD12	HGNC	protein_coding	OTTHUMT00000318682.1	G	NM_207335		127703061	+1	no_errors	ENST00000405109	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNA6	3742	genome.wustl.edu	37	12	4920131	4920131	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:4920131C>T	ENST00000280684.3	+	1	1790	c.924C>T	c.(922-924)ttC>ttT	p.F308F	KCNA6_ENST00000433855.1_Silent_p.F308F|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	308					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TCCCCTACTTCATCACCCTGG	0.602										HNSCC(72;0.22)																																							0													76.0	67.0	70.0					12																	4920131		2203	4300	6503	SO:0001819	synonymous_variant	3742			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.924C>T	12.37:g.4920131C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.F308	ENST00000280684.3	37	c.924	CCDS8534.1	12																																																																																			KCNA6	-	pfam_Ion_trans_dom,prints_K_chnl		0.602	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	C	NM_002235		4920131	+1	no_errors	ENST00000280684	ensembl	human	known	70_37	silent	SNP	1.000	T
KCND3	3752	genome.wustl.edu	37	1	112525016	112525016	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:112525016G>A	ENST00000315987.2	-	2	812	c.333C>T	c.(331-333)atC>atT	p.I111I	KCND3_ENST00000369697.1_Silent_p.I111I|KCND3_ENST00000302127.4_Silent_p.I111I	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	111					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGTAGGCAGAGATGCACTCGT	0.617																																																	0													106.0	93.0	97.0					1																	112525016		2203	4300	6503	SO:0001819	synonymous_variant	3752			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.333C>T	1.37:g.112525016G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.I111	ENST00000315987.2	37	c.333	CCDS843.1	1																																																																																			KCND3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3		0.617	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	G	NM_172198		112525016	-1	no_errors	ENST00000315987	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNH5	27133	genome.wustl.edu	37	14	63175099	63175099	+	Silent	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:63175099G>T	ENST00000322893.7	-	11	2362	c.2094C>A	c.(2092-2094)ctC>ctA	p.L698L	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	698					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGGGAATGCTGAGGGTCACCT	0.537																																																	0													111.0	116.0	114.0					14																	63175099		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.2094C>A	14.37:g.63175099G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JP98	Silent	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.L698	ENST00000322893.7	37	c.2094	CCDS9756.1	14																																																																																			KCNH5	-	NULL		0.537	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	G	NM_139318		63175099	-1	no_errors	ENST00000322893	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21319444	21319444	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:21319444C>G	ENST00000583088.1	+	3	1685	c.790C>G	c.(790-792)Ctg>Gtg	p.L264V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L264V	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	264					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CCGCATCTTTCTGGTGTCGCC	0.612										Prostate(3;0.18)																																							0													125.0	94.0	105.0					17																	21319444		2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.790C>G	17.37:g.21319444C>G	ENSP00000463778:p.Leu264Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.L264V	ENST00000583088.1	37	c.790	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876967	0.51801	.	.	ENSG00000184185	ENST00000331718	D	0.95788	-3.81	5.43	4.37	0.52481	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.64402	D	0.000002	D	0.97324	0.9125	M	0.89478	3.035	0.48452	D	0.99965	D	0.89917	1.0	D	0.91635	0.999	D	0.96750	0.9553	10	0.62326	D	0.03	.	6.3235	0.21231	0.0:0.734:0.0:0.266	.	264	Q14500	IRK12_HUMAN	V	264	ENSP00000328150:L264V	ENSP00000328150:L264V	L	+	1	2	KCNJ12	21260037	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.326000	0.33735	2.554000	0.86153	0.655000	0.94253	CTG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	C	NM_021012		21319444	+1	no_errors	ENST00000331718	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNK16	83795	genome.wustl.edu	37	6	39282796	39282796	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:39282796C>T	ENST00000373229.5	-	6	925	c.912G>A	c.(910-912)aaG>aaA	p.K304K	KCNK16_ENST00000373227.4_Silent_p.K257K|KCNK16_ENST00000507712.1_Silent_p.K192K|KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000425054.2_3'UTR	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	304					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCAGTCCTTTCTTGGATATGG	0.587																																																	0													149.0	135.0	140.0					6																	39282796		2203	4300	6503	SO:0001819	synonymous_variant	83795			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.912G>A	6.37:g.39282796C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.K304	ENST00000373229.5	37	c.912	CCDS4843.1	6																																																																																			KCNK16	-	NULL		0.587	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	C	NM_032115		39282796	-1	no_errors	ENST00000373229	ensembl	human	known	70_37	silent	SNP	0.000	T
KCNMB4	27345	genome.wustl.edu	37	12	70760704	70760704	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:70760704G>A	ENST00000258111.4	+	1	649	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	64					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of neurotransmitter secretion (GO:0046928)|regulation of vasoconstriction (GO:0019229)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		Miconazole(DB01110)|Procaine(DB00721)	GCAGATCGGCGAGGTGTTCGA	0.617																																																	0													65.0	60.0	62.0					12																	70760704		2203	4300	6503	SO:0001583	missense	27345			AF207992	CCDS8997.1	12q15	2006-06-10			ENSG00000135643	ENSG00000135643		"""Potassium channels"""	6289	protein-coding gene	gene with protein product		605223				10692449, 10828459	Standard	NM_014505		Approved		uc001svx.3	Q86W47	OTTHUMG00000167586	ENST00000258111.4:c.190G>A	12.37:g.70760704G>A	ENSP00000258111:p.Glu64Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVR3|Q9NPA4|Q9P0G5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_bsu	p.E64K	ENST00000258111.4	37	c.190	CCDS8997.1	12	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661107	0.88154	.	.	ENSG00000135643	ENST00000258111	T	0.10573	2.86	3.37	2.47	0.30058	.	0.130621	0.50627	D	0.000110	T	0.09686	0.0238	L	0.59436	1.845	0.47511	D	0.999443	P	0.36647	0.563	B	0.25140	0.058	T	0.13124	-1.0521	10	0.44086	T	0.13	-5.0891	10.491	0.44750	0.0987:0.0:0.9013:0.0	.	64	Q86W47	KCMB4_HUMAN	K	64	ENSP00000258111:E64K	ENSP00000258111:E64K	E	+	1	0	KCNMB4	69046971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.423000	0.66458	0.512000	0.28257	0.491000	0.48974	GAG	KCNMB4	-	pfam_K_chnl_Ca-activ_BK_bsu		0.617	KCNMB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNMB4	HGNC	protein_coding	OTTHUMT00000395208.1	G	NM_014505		70760704	+1	no_errors	ENST00000258111	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNT1	57582	genome.wustl.edu	37	9	138662821	138662821	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:138662821G>A	ENST00000263604.3	+	18	1831	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	KCNT1_ENST00000486577.2_Missense_Mutation_p.E591K|KCNT1_ENST00000298480.5_Missense_Mutation_p.E630K|KCNT1_ENST00000487664.1_Missense_Mutation_p.E585K|KCNT1_ENST00000371757.2_Missense_Mutation_p.E630K|KCNT1_ENST00000490355.2_Missense_Mutation_p.E611K|KCNT1_ENST00000488444.2_Missense_Mutation_p.E611K|KCNT1_ENST00000491806.2_Missense_Mutation_p.E597K			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	611					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.E631delE(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CATCACCAAGGAGGAGAACTC	0.642																																																	1	Deletion - In frame(1)	large_intestine(1)											63.0	54.0	57.0					9																	138662821		2203	4300	6503	SO:0001583	missense	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1831G>A	9.37:g.138662821G>A	ENSP00000263604:p.Glu611Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.E630K	ENST00000263604.3	37	c.1888		9	.	.	.	.	.	.	.	.	.	.	G	31	5.103643	0.94245	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.34667	1.38;1.37;1.37;1.35	3.88	3.88	0.44766	.	0.000000	0.85682	U	0.000000	T	0.65291	0.2677	M	0.89478	3.035	0.80722	D	1	D;D;D;P	0.89917	0.998;0.999;1.0;0.936	D;D;D;P	0.87578	0.982;0.993;0.998;0.871	T	0.72337	-0.4324	10	0.45353	T	0.12	-25.2627	16.0316	0.80582	0.0:0.0:1.0:0.0	.	597;630;585;611	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	K	585;630;630;591;597;611;611;611	ENSP00000417851:E585K;ENSP00000298480:E630K;ENSP00000360822:E630K;ENSP00000263604:E611K	ENSP00000263604:E611K	E	+	1	0	KCNT1	137802642	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.253000	0.95501	1.996000	0.58369	0.467000	0.42956	GAG	KCNT1	-	NULL		0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	HGNC	protein_coding		G	NM_020822		138662821	+1	no_errors	ENST00000298480	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNU1	157855	genome.wustl.edu	37	8	36675259	36675259	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:36675259G>C	ENST00000399881.3	+	10	1124	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	363	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GATCAACACTGAAATTGTTTT	0.398																																																	0													147.0	134.0	138.0					8																	36675259		1869	4092	5961	SO:0001583	missense	157855			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1087G>C	8.37:g.36675259G>C	ENSP00000382770:p.Glu363Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2,prints_K_chnl_Ca-activ_BK_asu	p.E363Q	ENST00000399881.3	37	c.1087	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874603	0.51695	.	.	ENSG00000215262	ENST00000399881	T	0.33216	1.42	5.31	4.43	0.53597	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.38111	U	0.001808	T	0.43255	0.1239	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	P	0.54965	0.765	T	0.43426	-0.9392	10	0.87932	D	0	-6.516	13.6202	0.62132	0.0:0.1556:0.8443:0.0	.	363	A8MYU2	KCNU1_HUMAN	Q	363	ENSP00000382770:E363Q	ENSP00000382770:E363Q	E	+	1	0	KCNU1	36794417	1.000000	0.71417	0.076000	0.20297	0.364000	0.29643	8.055000	0.89453	1.345000	0.45676	0.655000	0.94253	GAA	KCNU1	-	prints_K_chnl_Ca-activ_BK_asu		0.398	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36675259	+1	no_errors	ENST00000399881	ensembl	human	known	70_37	missense	SNP	0.988	C
KCTD15	79047	genome.wustl.edu	37	19	34302352	34302352	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:34302352G>A	ENST00000430256.3	+	5	996	c.588G>A	c.(586-588)gaG>gaA	p.E196E	KCTD15_ENST00000589786.1_Silent_p.E196E|KCTD15_ENST00000588881.1_Silent_p.E196E|KCTD15_ENST00000284006.6_Silent_p.E196E			Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15	196					multicellular organismal development (GO:0007275)|protein homooligomerization (GO:0051260)					endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					TCTTCCCCGAGACCGGAGACG	0.672																																					Melanoma(36;646 1094 5145 14504 45302)|GBM(25;193 541 1518 14388 52178)												0													37.0	28.0	31.0					19																	34302352		2203	4300	6503	SO:0001819	synonymous_variant	79047			AK025590	CCDS12434.1, CCDS46039.1	19q13.12	2013-06-20	2013-06-20			ENSG00000153885			23297	protein-coding gene	gene with protein product		615240	"""potassium channel tetramerisation domain containing 15"""			12477932	Standard	NM_024076		Approved	MGC25497	uc002nuw.4	Q96SI1		ENST00000430256.3:c.588G>A	19.37:g.34302352G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K600|Q9BVI6	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.E196	ENST00000430256.3	37	c.588	CCDS46039.1	19	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417779	0.25552	.	.	ENSG00000153885	ENST00000413790	.	.	.	5.01	3.98	0.46160	.	.	.	.	.	T	0.64853	0.2636	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67868	-0.5559	5	0.87932	D	0	.	8.4362	0.32789	0.1722:0.0:0.8278:0.0	.	.	.	.	K	71	.	ENSP00000406942:R71K	R	+	2	0	KCTD15	38994192	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.872000	0.56085	2.330000	0.79161	0.655000	0.94253	AGA	KCTD15	-	NULL		0.672	KCTD15-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCTD15	HGNC	protein_coding	OTTHUMT00000451462.2	G	NM_024076		34302352	+1	no_errors	ENST00000430256	ensembl	human	known	70_37	silent	SNP	1.000	A
KDM1B	221656	genome.wustl.edu	37	6	18215304	18215304	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:18215304G>A	ENST00000297792.5	+	16	1657	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	KDM1B_ENST00000546309.2_Missense_Mutation_p.D17N|KDM1B_ENST00000397244.1_Missense_Mutation_p.D495N|KDM1B_ENST00000388870.2_Missense_Mutation_p.D727N			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	726					DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GACCCTGGATGACAAACAGGT	0.582																																																	0													73.0	67.0	69.0					6																	18215304		2203	4300	6503	SO:0001583	missense	221656			AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1480G>A	6.37:g.18215304G>A	ENSP00000297792:p.Asp494Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW	p.D727N	ENST00000297792.5	37	c.2179	CCDS34343.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.692706|4.692706	0.88735|0.88735	.|.	.|.	ENSG00000165097|ENSG00000165097	ENST00000546309;ENST00000388870;ENST00000397244;ENST00000297792;ENST00000388869|ENST00000449850	D;D;D;D|.	0.94576|.	-3.46;-3.46;-3.46;-3.46|.	5.99|5.99	5.13|5.13	0.70059|0.70059	Amine oxidase (1);|.	0.140147|.	0.64402|.	D|.	0.000007|.	T|T	0.65228|0.65228	0.2671|0.2671	M|M	0.71206|0.71206	2.165|2.165	0.58432|0.58432	D|D	0.999999|0.999999	D;D;P|.	0.76494|.	0.999;0.998;0.722|.	D;D;B|.	0.79108|.	0.992;0.966;0.393|.	T|T	0.66972|0.66972	-0.5788|-0.5788	10|5	0.49607|.	T|.	0.09|.	-20.5785|-20.5785	14.9863|14.9863	0.71351|0.71351	0.0679:0.0:0.9321:0.0|0.0679:0.0:0.9321:0.0	.|.	543;726;494|.	A2A2C4;Q8NB78;A2A2C6|.	.;KDM1B_HUMAN;.|.	N|I	17;727;495;494;724|543	ENSP00000442670:D17N;ENSP00000373522:D727N;ENSP00000380419:D495N;ENSP00000297792:D494N|.	ENSP00000297792:D494N|.	D|M	+|+	1|3	0|0	KDM1B|KDM1B	18323283|18323283	1.000000|1.000000	0.71417|0.71417	0.881000|0.881000	0.34555|0.34555	0.552000|0.552000	0.35366|0.35366	7.988000|7.988000	0.88194|0.88194	1.546000|1.546000	0.49388|0.49388	0.650000|0.650000	0.86243|0.86243	GAC|ATG	KDM1B	-	pfam_Amino_oxidase		0.582	KDM1B-002	KNOWN	basic|CCDS	protein_coding	KDM1B	HGNC	protein_coding	OTTHUMT00000277080.1	G	NM_153042		18215304	+1	no_errors	ENST00000388870	ensembl	human	known	70_37	missense	SNP	0.999	A
KDM2B	84678	genome.wustl.edu	37	12	121947490	121947490	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:121947490G>C	ENST00000377071.4	-	11	1599	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L	KDM2B_ENST00000542973.1_5'UTR|KDM2B_ENST00000377069.4_Silent_p.L478L|KDM2B_ENST00000538046.2_Silent_p.L419L|KDM2B_ENST00000536437.1_Silent_p.L392L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	509					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAACTCAGTGAGATGGGTCC	0.587																																																	0													71.0	74.0	73.0					12																	121947490		1895	4112	6007	SO:0001819	synonymous_variant	84678			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1527C>G	12.37:g.121947490G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.L509	ENST00000377071.4	37	c.1527	CCDS41850.1	12																																																																																			KDM2B	-	NULL		0.587	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	G	NM_032590		121947490	-1	no_errors	ENST00000377071	ensembl	human	known	70_37	silent	SNP	1.000	C
KDM3B	51780	genome.wustl.edu	37	5	137762663	137762663	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137762663G>C	ENST00000314358.5	+	18	4611		c.e18-1		KDM3B_ENST00000394866.1_Splice_Site|KDM3B_ENST00000542866.1_Splice_Site	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTCTTCCAGAACGACTACG	0.453																																																	0													70.0	70.0	70.0					5																	137762663		2203	4300	6503	SO:0001630	splice_region_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4412-1G>C	5.37:g.137762663G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Splice_Site	SNP	-	e18-1	ENST00000314358.5	37	c.4412-1	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765316	0.69878	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	.	.	.	5.33	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1586	0.65432	0.0728:0.0:0.9271:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM3B	137790562	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.869000	0.99810	1.237000	0.43756	0.655000	0.94253	.	KDM3B	-	-		0.453	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	G	NM_016604	Intron	137762663	+1	no_errors	ENST00000314358	ensembl	human	known	70_37	splice_site	SNP	1.000	C
KDM3B	51780	genome.wustl.edu	37	5	137762890	137762890	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137762890G>C	ENST00000314358.5	+	19	4715	c.4515G>C	c.(4513-4515)ctG>ctC	p.L1505L	KDM3B_ENST00000394866.1_Silent_p.L1161L|KDM3B_ENST00000542866.1_Silent_p.L537L	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1505	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTGAAGATCTGATGGAGAACC	0.433																																																	0													91.0	91.0	91.0					5																	137762890		2203	4300	6503	SO:0001819	synonymous_variant	51780			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4515G>C	5.37:g.137762890G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.L1505	ENST00000314358.5	37	c.4515	CCDS34242.1	5																																																																																			KDM3B	-	smart_JmjC_dom,pfscan_JmjC_dom		0.433	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	G	NM_016604		137762890	+1	no_errors	ENST00000314358	ensembl	human	known	70_37	silent	SNP	0.998	C
KDM4B	23030	genome.wustl.edu	37	19	5119803	5119803	+	Missense_Mutation	SNP	G	G	A	rs147027017		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:5119803G>A	ENST00000159111.4	+	11	1473	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KDM4B_ENST00000536461.1_Missense_Mutation_p.E453K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	419					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTTGACCCCGAGGAGGAGGA	0.711																																																	0													10.0	9.0	9.0					19																	5119803		1955	3854	5809	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1255G>A	19.37:g.5119803G>A	ENSP00000159111:p.Glu419Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E419K	ENST00000159111.4	37	c.1255	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188862	0.78789	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18174	2.23;2.27	4.76	4.76	0.60689	.	1.591330	0.03447	N	0.210078	T	0.22126	0.0533	L	0.46157	1.445	0.35053	D	0.760863	P;P	0.50443	0.935;0.893	B;B	0.41691	0.364;0.2	T	0.37009	-0.9724	10	0.17832	T	0.49	-25.9253	15.9624	0.79941	0.0:0.0:1.0:0.0	.	453;419	F5GX28;O94953	.;KDM4B_HUMAN	K	419;453	ENSP00000159111:E419K;ENSP00000440495:E453K	ENSP00000159111:E419K	E	+	1	0	KDM4B	5070803	1.000000	0.71417	0.938000	0.37757	0.583000	0.36354	4.188000	0.58351	2.190000	0.69967	0.561000	0.74099	GAG	KDM4B	-	NULL		0.711	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	G	NM_015015		5119803	+1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	0.988	A
KIAA0125	9834	genome.wustl.edu	37	14	106391135	106391135	+	IGR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:106391135C>G	ENST00000449410.1	+	0	533				KIAA0125_ENST00000482999.1_3'UTR			Q9NZY2	K0125_HUMAN	KIAA0125																		AGAAGACACTCTATGTCCTGC	0.582																																																	0																																										SO:0001628	intergenic_variant	9834			AB019441		14q32.33	2014-04-01			ENSG00000226777	ENSG00000226777			19955	other	unknown			"""family with sequence similarity 30, member A"", ""chromosome 14 open reading frame 110"""	FAM30A, C14orf110		8590280	Standard	NR_026800		Approved	HSPC053	uc001ysq.3	Q9NZY2	OTTHUMG00000152318		14.37:g.106391135C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J8W9	RNA	SNP	-	NULL	ENST00000449410.1	37	NULL		14																																																																																			KIAA0125	-	-		0.582	KIAA0125-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	KIAA0125	HGNC	protein_coding	OTTHUMT00000325876.1	C	NM_014792		106391135	+1	no_errors	ENST00000482999	ensembl	human	known	70_37	rna	SNP	0.003	G
KIAA0196	9897	genome.wustl.edu	37	8	126085488	126085488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:126085488C>A	ENST00000318410.7	-	9	1406	c.1057G>T	c.(1057-1059)Gag>Tag	p.E353*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.E205*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	353					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAACCATCTCCTCCCTTAAA	0.433																																																	0													135.0	113.0	121.0					8																	126085488		2203	4300	6503	SO:0001587	stop_gained	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1057G>T	8.37:g.126085488C>A	ENSP00000318016:p.Glu353*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4R7|Q3KQX5|Q8TBQ2	Nonsense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.E353*	ENST00000318410.7	37	c.1057	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	C	41	8.799516	0.98958	.	.	ENSG00000164961	ENST00000318410;ENST00000517845	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-17.9752	20.6282	0.99521	0.0:1.0:0.0:0.0	.	.	.	.	X	353;205	.	ENSP00000318016:E353X	E	-	1	0	KIAA0196	126154670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.727000	0.84838	2.871000	0.98454	0.655000	0.94253	GAG	KIAA0196	-	pfam_WASH_strumpellin		0.433	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	C	NM_014846		126085488	-1	no_errors	ENST00000318410	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GLTSCR1L	23506	genome.wustl.edu	37	6	42823607	42823607	+	Missense_Mutation	SNP	C	C	T	rs143045076	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42823607C>T	ENST00000314073.5	+	9	2236	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S687L			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	687								p.S687L(1)									GAGAGTCATTCGGGAGGACAA	0.373																																																	1	Substitution - Missense(1)	skin(1)						C	LEU/SER	3,4403	6.2+/-15.9	0,3,2200	110.0	117.0	114.0		2060	4.9	0.9	6	dbSNP_134	114	0,8600		0,0,4300	yes	missense	KIAA0240	NM_015349.1	145	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	687/1080	42823607	3,13003	2203	4300	6503	SO:0001583	missense	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2060C>T	6.37:g.42823607C>T	ENSP00000313933:p.Ser687Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.S687L	ENST00000314073.5	37	c.2060	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	C	3.670	-0.067674	0.07273	6.81E-4	0.0	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.41400	1.0;1.0	5.78	4.92	0.64577	.	0.939261	0.08926	N	0.873751	T	0.10465	0.0256	N	0.15975	0.35	0.26237	N	0.978921	B	0.09022	0.002	B	0.04013	0.001	T	0.26189	-1.0110	10	0.24483	T	0.36	0.171	7.8843	0.29640	0.0:0.7839:0.0:0.2161	.	687	Q6AI39	K0240_HUMAN	L	687	ENSP00000313933:S687L;ENSP00000377723:S687L	ENSP00000313933:S687L	S	+	2	0	KIAA0240	42931585	0.002000	0.14202	0.858000	0.33744	0.849000	0.48306	0.768000	0.26590	1.594000	0.50039	-0.218000	0.12543	TCG	KIAA0240	-	NULL		0.373	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	C	NM_015349		42823607	+1	no_errors	ENST00000314073	ensembl	human	known	70_37	missense	SNP	0.897	T
KIAA0556	23247	genome.wustl.edu	37	16	27710918	27710918	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:27710918G>A	ENST00000261588.4	+	10	1196	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	393						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGACCCTTGAGGTCAGTGC	0.522																																																	0													130.0	100.0	110.0					16																	27710918		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.1177G>A	16.37:g.27710918G>A	ENSP00000261588:p.Glu393Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.E393K	ENST00000261588.4	37	c.1177	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	G	7.375	0.627679	0.14257	.	.	ENSG00000047578	ENST00000261588;ENST00000327217	T	0.09630	2.96	4.32	4.32	0.51571	.	0.975314	0.08413	N	0.949510	T	0.14270	0.0345	M	0.62723	1.935	0.34785	D	0.735127	P;B	0.45283	0.855;0.058	B;B	0.37480	0.251;0.04	T	0.28106	-1.0054	10	0.39692	T	0.17	-3.4289	13.0443	0.58918	0.0:0.0:1.0:0.0	.	301;393	Q8N803;O60303	.;K0556_HUMAN	K	393;300	ENSP00000261588:E393K	ENSP00000261588:E393K	E	+	1	0	KIAA0556	27618419	0.991000	0.36638	0.936000	0.37596	0.295000	0.27426	2.562000	0.45914	2.344000	0.79699	0.561000	0.74099	GAG	KIAA0556	-	NULL		0.522	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	G	NM_015202		27710918	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.965	A
KIAA0556	23247	genome.wustl.edu	37	16	27751738	27751738	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:27751738C>G	ENST00000261588.4	+	15	2139	c.2120C>G	c.(2119-2121)tCg>tGg	p.S707W		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	707						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCCCACTTCGATGGGTGAC	0.498																																																	0													53.0	54.0	54.0					16																	27751738		2197	4300	6497	SO:0001583	missense	23247			AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2120C>G	16.37:g.27751738C>G	ENSP00000261588:p.Ser707Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C2	Missense_Mutation	SNP	superfamily_Thaumatin	p.S707W	ENST00000261588.4	37	c.2120	CCDS32415.1	16	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722166	0.30503	.	.	ENSG00000047578	ENST00000261588	T	0.11385	2.78	5.25	0.579	0.17397	.	1.581280	0.03012	N	0.149564	T	0.20740	0.0499	L	0.56769	1.78	0.09310	N	1	D	0.64830	0.994	P	0.54889	0.763	T	0.06499	-1.0823	10	0.59425	D	0.04	-5.198	3.156	0.06504	0.104:0.4728:0.2044:0.2189	.	707	O60303	K0556_HUMAN	W	707	ENSP00000261588:S707W	ENSP00000261588:S707W	S	+	2	0	KIAA0556	27659239	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.314000	0.08092	-0.358000	0.08162	-2.069000	0.00389	TCG	KIAA0556	-	NULL		0.498	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0556	HGNC	protein_coding	OTTHUMT00000433724.1	C	NM_015202		27751738	+1	no_errors	ENST00000261588	ensembl	human	known	70_37	missense	SNP	0.000	G
CLUHP3	100132341	genome.wustl.edu	37	16	31715702	31715702	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31715702G>A	ENST00000562354.1	+	0	0							Q96NS8	CLUP3_HUMAN	clustered mitochondria (cluA/CLU1) homolog pseudogene 3																		GCTGCTCCACGTGGTGGAAGG	0.637																																																	0																																												100132341			AK054698		16p11.2	2012-11-30	2012-11-30	2012-11-30	ENSG00000131797	ENSG00000131797			28447	pseudogene	pseudogene			"""chromosome 16 open reading frame 67"", ""KIAA0664 pseudogene 3"", ""KIAA0664-like 3"""	C16orf67, KIAA0664P3, KIAA0664L3		12477932	Standard	NR_024034		Approved	MGC3020	uc002eck.4	Q96NS8	OTTHUMG00000132462		16.37:g.31715702G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BW88	RNA	SNP	-	NULL	ENST00000562354.1	37	NULL		16																																																																																			KIAA0664L3	-	-		0.637	CLUHP3-007	KNOWN	basic	processed_transcript	KIAA0664L3	HGNC	pseudogene	OTTHUMT00000432910.1	G	NR_024034		31715702	+1	no_errors	ENST00000254109	ensembl	human	known	70_37	rna	SNP	1.000	A
KIAA0930	23313	genome.wustl.edu	37	22	45599773	45599773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:45599773G>A	ENST00000336156.5	-	6	675	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	KIAA0930_ENST00000251993.7_Nonsense_Mutation_p.Q209*|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000474515.1_5'Flank|KIAA0930_ENST00000391627.2_Nonsense_Mutation_p.Q170*|KIAA0930_ENST00000443310.3_Nonsense_Mutation_p.Q186*	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	204										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ATGGAGCCCTGAAAGATGACC	0.622																																																	0													244.0	170.0	195.0					22																	45599773		2203	4300	6503	SO:0001587	stop_gained	23313			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.610C>T	22.37:g.45599773G>A	ENSP00000336720:p.Gln204*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Nonsense_Mutation	SNP	pfam_DUF2045	p.Q209*	ENST00000336156.5	37	c.625	CCDS33665.1	22	.	.	.	.	.	.	.	.	.	.	g	37	6.483617	0.97603	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.48	4.48	0.54585	.	0.055224	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-30.0212	17.5344	0.87825	0.0:0.0:1.0:0.0	.	.	.	.	X	204;89;209;170;186	.	ENSP00000251993:Q209X	Q	-	1	0	KIAA0930	43978437	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.174000	0.94824	2.201000	0.70794	0.556000	0.70494	CAG	KIAA0930	-	pfam_DUF2045		0.622	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0930	HGNC	protein_coding	OTTHUMT00000321975.2	G	NM_001009880		45599773	-1	no_errors	ENST00000251993	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CEP162	22832	genome.wustl.edu	37	6	84884571	84884571	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:84884571C>G	ENST00000403245.3	-	15	2014	c.1900G>C	c.(1900-1902)Gag>Cag	p.E634Q	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.E558Q	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAATTTGCTCAATTAGGGCT	0.363																																																	0													88.0	77.0	81.0					6																	84884571		2203	4299	6502	SO:0001583	missense	22832																														ENST00000403245.3:c.1900G>C	6.37:g.84884571C>G	ENSP00000385215:p.Glu634Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E634Q	ENST00000403245.3	37	c.1900	CCDS34494.2	6	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798843	0.50208	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.19806	2.12;2.13	5.6	4.72	0.59763	.	0.079789	0.53938	D	0.000058	T	0.08133	0.0203	L	0.54323	1.7	0.32114	N	0.588861	B	0.26081	0.141	B	0.26202	0.067	T	0.18745	-1.0327	10	0.19590	T	0.45	-4.0611	9.5505	0.39306	0.0:0.5786:0.3452:0.0762	.	634	Q5TB80	QN1_HUMAN	Q	558;634	ENSP00000257766:E558Q;ENSP00000385215:E634Q	ENSP00000257766:E558Q	E	-	1	0	KIAA1009	84941290	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	2.989000	0.49393	1.486000	0.48398	0.563000	0.77884	GAG	KIAA1009	-	NULL		0.363	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1009	HGNC	protein_coding	OTTHUMT00000317315.1	C			84884571	-1	no_errors	ENST00000403245	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA1107	23285	genome.wustl.edu	37	1	92647579	92647579	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:92647579G>C	ENST00000370378.4	+	8	3123	c.3025G>C	c.(3025-3027)Gag>Cag	p.E1009Q	KIAA1107_ENST00000409154.4_Missense_Mutation_p.E1064Q	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	1064										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						TGAATGTGAAGAGCTGGGATC	0.358																																																	0													87.0	79.0	81.0					1																	92647579		692	1591	2283	SO:0001583	missense	23285			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.3025G>C	1.37:g.92647579G>C	ENSP00000359404:p.Glu1009Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.E1064Q	ENST00000370378.4	37	c.3190	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230282	0.79688	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.18016	2.24;2.25	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	M	0.68593	2.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.09100	-1.0690	10	0.87932	D	0	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	1009	E9PEZ5	.	Q	1064;1009	ENSP00000386957:E1064Q;ENSP00000359404:E1009Q	ENSP00000359404:E1009Q	E	+	1	0	KIAA1107	92420167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.898000	0.92538	2.733000	0.93635	0.655000	0.94253	GAG	KIAA1107	-	NULL		0.358	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	G	XM_034086		92647579	+1	no_errors	ENST00000409154	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123140590	123140590	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:123140590G>C	ENST00000264501.4	+	21	2716	c.2343G>C	c.(2341-2343)tgG>tgC	p.W781C	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.W781C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.W781C			Q2LD37	K1109_HUMAN	KIAA1109	781					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCTCTGGGTGGACTGCTGTTG	0.403																																																	0													194.0	185.0	188.0					4																	123140590		1887	4126	6013	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2343G>C	4.37:g.123140590G>C	ENSP00000264501:p.Trp781Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.W781C	ENST00000264501.4	37	c.2343	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.96|18.96	3.732972|3.732972	0.69189|0.69189	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.23147	.|2.51;2.51;1.92	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|7739.210000	.|0.00166	.|N	.|0.000000	T|T	0.53626|0.53626	0.1808|0.1808	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.996	T|T	0.26018|0.26018	-1.0115|-1.0115	5|10	.|0.38643	.|T	.|0.18	.|.	19.9089|19.9089	0.97019|0.97019	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|781;781	.|Q2LD37-5;Q2LD37	.|.;K1109_HUMAN	H|C	614|781	.|ENSP00000264501:W781C;ENSP00000373390:W781C;ENSP00000389925:W781C	.|ENSP00000264501:W781C	D|W	+|+	1|3	0|0	KIAA1109|KIAA1109	123360040|123360040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.860000|7.860000	0.86993|0.86993	2.709000|2.709000	0.92574|0.92574	0.591000|0.591000	0.81541|0.81541	GAC|TGG	KIAA1109	-	NULL		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123140590	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1279	26128	genome.wustl.edu	37	10	70775519	70775519	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70775519G>C	ENST00000361983.4	+	7	1315	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	405					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTATGTCTTTGAGGCAAAAGA	0.403																																																	0													154.0	142.0	146.0					10																	70775519		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1213G>C	10.37:g.70775519G>C	ENSP00000354848:p.Glu405Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.E405Q	ENST00000361983.4	37	c.1213	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	G	13.66	2.302604	0.40795	.	.	ENSG00000198954	ENST00000361983	T	0.42131	0.98	5.51	5.51	0.81932	.	0.142496	0.64402	D	0.000006	T	0.31482	0.0798	N	0.25890	0.77	0.58432	D	0.999999	P	0.35551	0.509	B	0.31495	0.131	T	0.05716	-1.0868	10	0.18276	T	0.48	-20.3918	19.7791	0.96410	0.0:0.0:1.0:0.0	.	405	Q96EK5	KBP_HUMAN	Q	405	ENSP00000354848:E405Q	ENSP00000354848:E405Q	E	+	1	0	KIAA1279	70445525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.052000	0.57420	2.763000	0.94921	0.650000	0.86243	GAG	KIAA1279	-	pfam_KBP		0.403	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	G	NM_015634		70775519	+1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	0.999	C
KIAA1279	26128	genome.wustl.edu	37	10	70775758	70775758	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70775758G>C	ENST00000361983.4	+	7	1554	c.1452G>C	c.(1450-1452)atG>atC	p.M484I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	484					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						ACTATGATATGATGGATTTGA	0.388																																																	0													68.0	64.0	66.0					10																	70775758		2203	4300	6503	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1452G>C	10.37:g.70775758G>C	ENSP00000354848:p.Met484Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.M484I	ENST00000361983.4	37	c.1452	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841223	0.71488	.	.	ENSG00000198954	ENST00000361983	T	0.42513	0.97	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.37561	1.115	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.38457	-0.9660	10	0.21014	T	0.42	-11.2697	20.0572	0.97657	0.0:0.0:1.0:0.0	.	484	Q96EK5	KBP_HUMAN	I	484	ENSP00000354848:M484I	ENSP00000354848:M484I	M	+	3	0	KIAA1279	70445764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.826000	0.97356	0.655000	0.94253	ATG	KIAA1279	-	pfam_KBP		0.388	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	G	NM_015634		70775758	+1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1279	26128	genome.wustl.edu	37	10	70776150	70776150	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70776150G>A	ENST00000361983.4	+	7	1946	c.1844G>A	c.(1843-1845)aGa>aAa	p.R615K		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	615					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GAGAGATTCAGAACCAAGATG	0.408																																																	0													40.0	42.0	41.0					10																	70776150		2203	4298	6501	SO:0001583	missense	26128			BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1844G>A	10.37:g.70776150G>A	ENSP00000354848:p.Arg615Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	pfam_KBP	p.R615K	ENST00000361983.4	37	c.1844	CCDS7284.1	10	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624347	0.28889	.	.	ENSG00000198954	ENST00000361983	T	0.40476	1.03	5.9	4.03	0.46877	.	0.083439	0.85682	D	0.000000	T	0.24851	0.0603	N	0.12182	0.205	0.47441	D	0.999428	B	0.34329	0.449	B	0.34873	0.191	T	0.06607	-1.0817	10	0.21014	T	0.42	-1.837	12.7728	0.57432	0.1343:0.0:0.8657:0.0	.	615	Q96EK5	KBP_HUMAN	K	615	ENSP00000354848:R615K	ENSP00000354848:R615K	R	+	2	0	KIAA1279	70446156	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.198000	0.58419	1.492000	0.48499	0.591000	0.81541	AGA	KIAA1279	-	NULL		0.408	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1279	HGNC	protein_coding	OTTHUMT00000048370.1	G	NM_015634		70776150	+1	no_errors	ENST00000361983	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP10	54627	genome.wustl.edu	37	1	232943202	232943202	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:232943202C>G	ENST00000418460.1	+	1	2560	c.2433C>G	c.(2431-2433)gtC>gtG	p.V811V		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	669	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTAGACAGGTCAAAACCACAG	0.353																																																	0													64.0	66.0	65.0					1																	232943202		1849	4090	5939	SO:0001819	synonymous_variant	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2433C>G	1.37:g.232943202C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Silent	SNP	NULL	p.V811	ENST00000418460.1	37	c.2433	CCDS44334.1	1																																																																																			KIAA1383	-	NULL		0.353	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	C	NM_019090		232943202	+1	no_errors	ENST00000418460	ensembl	human	known	70_37	silent	SNP	0.000	G
KIAA1429	25962	genome.wustl.edu	37	8	95523629	95523629	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:95523629C>G	ENST00000297591.5	-	13	3249	c.3174G>C	c.(3172-3174)caG>caC	p.Q1058H	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000421249.2_Missense_Mutation_p.Q1058H|KIAA1429_ENST00000437199.1_Missense_Mutation_p.Q1058H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1058					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTGAATTTTCTGTTCATCAC	0.388																																																	0													45.0	46.0	46.0					8																	95523629		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.3174G>C	8.37:g.95523629C>G	ENSP00000297591:p.Gln1058His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.Q1058H	ENST00000297591.5	37	c.3174	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201172	0.38905	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.66638	-0.22;-0.22;0.79	5.38	5.38	0.77491	.	0.121038	0.64402	D	0.000019	T	0.65565	0.2703	N	0.24115	0.695	0.41819	D	0.99001	D;D	0.59767	0.986;0.986	P;P	0.56865	0.808;0.808	T	0.68708	-0.5337	10	0.62326	D	0.03	-8.875	12.3891	0.55348	0.0:0.8784:0.0:0.1216	.	1058;1058	Q69YN4-4;Q69YN4	.;VIR_HUMAN	H	1058	ENSP00000297591:Q1058H;ENSP00000395600:Q1058H;ENSP00000398390:Q1058H	ENSP00000297591:Q1058H	Q	-	3	2	KIAA1429	95592805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.390000	0.34464	2.678000	0.91216	0.650000	0.86243	CAG	KIAA1429	-	NULL		0.388	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	C	NM_015496		95523629	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC183	84960	genome.wustl.edu	37	9	139700619	139700619	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139700619G>A	ENST00000338005.6	+	10	1073	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	RABL6_ENST00000371671.4_5'Flank|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000357466.2_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		346										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGGTGCAGCTGAAGGCCCTGG	0.657																																																	0													25.0	35.0	32.0					9																	139700619		2054	4179	6233	SO:0001819	synonymous_variant	84960																														ENST00000338005.6:c.1038G>A	9.37:g.139700619G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	NULL	p.L346	ENST00000338005.6	37	c.1038	CCDS43906.1	9																																																																																			KIAA1984	-	NULL		0.657	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	G			139700619	+1	no_errors	ENST00000338005	ensembl	human	known	70_37	silent	SNP	0.651	A
CCDC183	84960	genome.wustl.edu	37	9	139700649	139700649	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139700649G>A	ENST00000338005.6	+	10	1103	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	RABL6_ENST00000371671.4_5'Flank|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000357466.2_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		356										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		TGGAGCTGGAGGAGGCCGTGC	0.667																																																	0													33.0	43.0	40.0					9																	139700649		2076	4206	6282	SO:0001819	synonymous_variant	84960																														ENST00000338005.6:c.1068G>A	9.37:g.139700649G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	NULL	p.E356	ENST00000338005.6	37	c.1068	CCDS43906.1	9																																																																																			KIAA1984	-	NULL		0.667	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	G			139700649	+1	no_errors	ENST00000338005	ensembl	human	known	70_37	silent	SNP	0.957	A
CCDC183	84960	genome.wustl.edu	37	9	139700700	139700700	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139700700G>A	ENST00000338005.6	+	10	1144				RABL6_ENST00000371671.4_5'Flank|KIAA1984_ENST00000371682.3_3'UTR|RABL6_ENST00000357466.2_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN												biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GGTGCCCCGGGCTTCCGGGGC	0.667																																																	0													14.0	18.0	17.0					9																	139700700		1899	4121	6020	SO:0001627	intron_variant	84960																														ENST00000338005.6:c.1109+10G>A	9.37:g.139700700G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	RNA	SNP	-	NULL	ENST00000338005.6	37	NULL	CCDS43906.1	9																																																																																			KIAA1984	-	-		0.667	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	G			139700700	+1	no_errors	ENST00000371682	ensembl	human	known	70_37	rna	SNP	0.000	A
CCDC183	84960	genome.wustl.edu	37	9	139701034	139701034	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139701034G>A	ENST00000338005.6	+	11	1223	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	RABL6_ENST00000371671.4_5'Flank|RABL6_ENST00000357466.2_5'Flank|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000371663.4_5'Flank|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		396										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ACAGCAACATGACCAAGGGCC	0.547																																																	0													39.0	47.0	45.0					9																	139701034		2113	4234	6347	SO:0001583	missense	84960																														ENST00000338005.6:c.1188G>A	9.37:g.139701034G>A	ENSP00000338013:p.Met396Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.M396I	ENST00000338005.6	37	c.1188	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	G	7.889	0.731801	0.15507	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.12465	2.68	4.68	3.77	0.43336	.	.	.	.	.	T	0.13841	0.0335	L	0.56769	1.78	0.80722	D	1	B	0.20780	0.048	B	0.16289	0.015	T	0.04621	-1.0938	9	0.23302	T	0.38	-16.9121	10.5654	0.45169	0.0:0.0:0.8073:0.1927	.	396	Q5T5S1	K1984_HUMAN	I	396	ENSP00000338013:M396I	ENSP00000338013:M396I	M	+	3	0	KIAA1984	138820855	0.014000	0.17966	0.502000	0.27614	0.153000	0.21895	1.803000	0.38863	1.069000	0.40788	0.491000	0.48974	ATG	KIAA1984	-	NULL		0.547	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	G			139701034	+1	no_errors	ENST00000338005	ensembl	human	known	70_37	missense	SNP	0.816	A
KIAA2018	205717	genome.wustl.edu	37	3	113388987	113388987	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:113388987C>G	ENST00000478658.1	-	3	157	c.140G>C	c.(139-141)tGt>tCt	p.C47S	KIAA2018_ENST00000316407.4_Missense_Mutation_p.C47S|KIAA2018_ENST00000491165.1_Missense_Mutation_p.C47S			Q68DE3	K2018_HUMAN	KIAA2018	47	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCAGGAGAACATGGGATCAG	0.373																																																	0													174.0	161.0	165.0					3																	113388987		1863	4104	5967	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.140G>C	3.37:g.113388987C>G	ENSP00000420721:p.Cys47Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.C47S	ENST00000478658.1	37	c.140	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593232	0.86953	.	.	ENSG00000176542	ENST00000491165;ENST00000316407;ENST00000478658	D;D;D	0.97529	-4.42;-4.42;-4.42	5.2	5.2	0.72013	Helix-loop-helix DNA-binding (5);	.	.	.	.	D	0.97278	0.9110	L	0.28400	0.85	0.51482	D	0.999928	D	0.89917	1.0	D	0.87578	0.998	D	0.98435	1.0584	9	0.87932	D	0	-4.9528	18.9342	0.92579	0.0:1.0:0.0:0.0	.	47	Q68DE3	K2018_HUMAN	S	47	ENSP00000420752:C47S;ENSP00000320794:C47S;ENSP00000420721:C47S	ENSP00000320794:C47S	C	-	2	0	KIAA2018	114871677	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.168000	0.77570	2.703000	0.92315	0.650000	0.86243	TGT	KIAA2018	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113388987	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	1.000	G
KIAA2026	158358	genome.wustl.edu	37	9	6007497	6007497	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:6007497G>A	ENST00000399933.3	-	1	290	c.291C>T	c.(289-291)ctC>ctT	p.L97L	KIAA2026_ENST00000381461.2_Silent_p.L97L|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	97										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGGGGCGGTGAGGCCCCGGT	0.716																																																	0													18.0	23.0	22.0					9																	6007497		1971	4135	6106	SO:0001819	synonymous_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.291C>T	9.37:g.6007497G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.L97	ENST00000399933.3	37	c.291		9																																																																																			KIAA2026	-	NULL		0.716	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	G	NM_001017969		6007497	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	silent	SNP	1.000	A
KIF15	56992	genome.wustl.edu	37	3	44893412	44893412	+	Missense_Mutation	SNP	G	G	A	rs373955634		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:44893412G>A	ENST00000326047.4	+	33	4089	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K	KIF15_ENST00000425755.1_Missense_Mutation_p.E949K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1314					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AAAGCTGGAAGAAATGTATGA	0.383																																																	0													131.0	122.0	125.0					3																	44893412		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3940G>A	3.37:g.44893412G>A	ENSP00000324020:p.Glu1314Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E1314K	ENST00000326047.4	37	c.3940	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.511701	0.96402	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.27720	1.65;1.65	5.68	5.68	0.88126	.	0.142112	0.32231	N	0.006385	T	0.32675	0.0837	L	0.60455	1.87	0.45676	D	0.998595	P	0.40144	0.704	B	0.33339	0.162	T	0.13019	-1.0525	10	0.46703	T	0.11	.	19.8668	0.96806	0.0:0.0:1.0:0.0	.	1314	Q9NS87	KIF15_HUMAN	K	1314;949	ENSP00000324020:E1314K;ENSP00000389982:E949K	ENSP00000324020:E1314K	E	+	1	0	KIF15	44868416	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	6.274000	0.72587	2.702000	0.92279	0.556000	0.70494	GAA	KIF15	-	NULL		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	G			44893412	+1	no_errors	ENST00000326047	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF15	56992	genome.wustl.edu	37	3	44893430	44893430	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:44893430G>C	ENST00000326047.4	+	33	4107	c.3958G>C	c.(3958-3960)Gag>Cag	p.E1320Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E955Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1320					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGAAGAAAGAGAGAGAACATC	0.383																																																	0													124.0	114.0	118.0					3																	44893430		2203	4300	6503	SO:0001583	missense	56992			AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.3958G>C	3.37:g.44893430G>C	ENSP00000324020:p.Glu1320Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.E1320Q	ENST00000326047.4	37	c.3958	CCDS33744.1	3	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407856	0.62399	.	.	ENSG00000163808	ENST00000326047;ENST00000425755	T;T	0.26223	1.75;1.75	5.72	5.72	0.89469	.	0.122451	0.36409	N	0.002616	T	0.19005	0.0456	L	0.33485	1.01	0.37752	D	0.926027	P	0.36048	0.534	B	0.32289	0.143	T	0.09818	-1.0657	10	0.22706	T	0.39	.	14.0878	0.64971	0.0716:0.0:0.9283:0.0	.	1320	Q9NS87	KIF15_HUMAN	Q	1320;955	ENSP00000324020:E1320Q;ENSP00000389982:E955Q	ENSP00000324020:E1320Q	E	+	1	0	KIF15	44868434	1.000000	0.71417	0.965000	0.40720	0.696000	0.40369	4.345000	0.59360	2.706000	0.92434	0.561000	0.74099	GAG	KIF15	-	NULL		0.383	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF15	HGNC	protein_coding	OTTHUMT00000343831.2	G			44893430	+1	no_errors	ENST00000326047	ensembl	human	known	70_37	missense	SNP	0.987	C
KIF1B	23095	genome.wustl.edu	37	1	10363419	10363419	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10363419G>C	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377083.1_Missense_Mutation_p.D726H|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377093.4_Missense_Mutation_p.D726H|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGAGTAAAGATTCCAAGTG	0.428																																																	0													74.0	77.0	76.0					1																	10363419		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6115G>C	1.37:g.10363419G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D726H	ENST00000377086.1	37	c.2176		1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027407	0.75390	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.74315	-0.83;-0.83	5.95	5.95	0.96441	.	.	.	.	.	D	0.87799	0.6268	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.88044	0.2783	8	0.87932	D	0	.	20.4582	0.99154	0.0:0.0:1.0:0.0	.	726	O60333-3	.	H	726	ENSP00000366297:D726H;ENSP00000366287:D726H	ENSP00000366287:D726H	D	+	1	0	KIF1B	10286006	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.727000	0.98787	2.836000	0.97738	0.650000	0.86243	GAT	KIF1B	-	NULL		0.428	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10363419	+1	no_errors	ENST00000377083	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF1B	23095	genome.wustl.edu	37	1	10425556	10425556	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10425556C>T	ENST00000377086.1	+	43	4804	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	KIF1B_ENST00000263934.6_Silent_p.L1488L|KIF1B_ENST00000377081.1_Silent_p.L1534L			O60333	KIF1B_HUMAN	kinesin family member 1B	1534					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCCCAGCCTCAGCAGTGGGA	0.537																																																	0													94.0	91.0	92.0					1																	10425556		2203	4300	6503	SO:0001819	synonymous_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4602C>T	1.37:g.10425556C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1488	ENST00000377086.1	37	c.4464		1																																																																																			KIF1B	-	NULL		0.537	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	C			10425556	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	silent	SNP	1.000	T
KIF1B	23095	genome.wustl.edu	37	1	10425657	10425657	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10425657C>T	ENST00000377086.1	+	43	4905	c.4703C>T	c.(4702-4704)tCa>tTa	p.S1568L	KIF1B_ENST00000263934.6_Missense_Mutation_p.S1522L|KIF1B_ENST00000377081.1_Missense_Mutation_p.S1568L			O60333	KIF1B_HUMAN	kinesin family member 1B	1568					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTATGATTCAGGAGACATC	0.532																																																	0													108.0	100.0	103.0					1																	10425657		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4703C>T	1.37:g.10425657C>T	ENSP00000366290:p.Ser1568Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1522L	ENST00000377086.1	37	c.4565		1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191040	0.78902	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72282	-0.57;-0.64;-0.64	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80919	0.4716	L	0.52573	1.65	0.80722	D	1	B;B;B;B;B;D	0.57899	0.396;0.146;0.394;0.227;0.009;0.981	B;B;B;B;B;D	0.69142	0.107;0.057;0.079;0.101;0.007;0.962	T	0.76979	-0.2758	10	0.33141	T	0.24	.	19.9662	0.97271	0.0:1.0:0.0:0.0	.	1554;1528;1568;1542;1568;1522	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1568;1522;1568;1568	ENSP00000263934:S1522L;ENSP00000366290:S1568L;ENSP00000366284:S1568L	ENSP00000263934:S1522L	S	+	2	0	KIF1B	10348244	1.000000	0.71417	0.978000	0.43139	0.906000	0.53458	7.818000	0.86416	2.701000	0.92244	0.650000	0.86243	TCA	KIF1B	-	NULL		0.532	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	C			10425657	+1	no_errors	ENST00000263934	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF20A	10112	genome.wustl.edu	37	5	137520288	137520288	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:137520288G>C	ENST00000394894.3	+	13	1832	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.E518Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	536					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCCCAGCTTAGAGAAAGGGGC	0.463																																																	0													123.0	116.0	118.0					5																	137520288		2203	4300	6503	SO:0001583	missense	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1606G>C	5.37:g.137520288G>C	ENSP00000378356:p.Glu536Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E536Q	ENST00000394894.3	37	c.1606	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	G	7.426	0.637757	0.14386	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.71817	-0.58;-0.6	5.1	3.29	0.37713	.	0.350783	0.20554	N	0.090054	T	0.49372	0.1553	N	0.14661	0.345	0.35783	D	0.821798	B;B	0.18741	0.012;0.03	B;B	0.19391	0.025;0.022	T	0.47736	-0.9094	10	0.37606	T	0.19	-6.5601	5.88	0.18850	0.2213:0.1418:0.637:0.0	.	518;536	B4DL79;O95235	.;KI20A_HUMAN	Q	536;518	ENSP00000378356:E536Q;ENSP00000420880:E518Q	ENSP00000378356:E536Q	E	+	1	0	KIF20A	137548187	0.965000	0.33210	0.973000	0.42090	0.618000	0.37518	1.665000	0.37449	0.700000	0.31782	0.557000	0.71058	GAG	KIF20A	-	NULL		0.463	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	G	NM_005733		137520288	+1	no_errors	ENST00000394894	ensembl	human	known	70_37	missense	SNP	0.659	C
KIF20B	9585	genome.wustl.edu	37	10	91503597	91503597	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:91503597G>A	ENST00000371728.3	+	22	4013	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	KIF20B_ENST00000416354.1_Silent_p.L1346L|KIF20B_ENST00000394289.2_Silent_p.L1316L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L1276L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1316					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATAAATTACTGAGGATTAAAA	0.289																																																	0													64.0	73.0	70.0					10																	91503597		2200	4296	6496	SO:0001819	synonymous_variant	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3948G>A	10.37:g.91503597G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1346	ENST00000371728.3	37	c.4038		10																																																																																			KIF20B	-	NULL		0.289	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	G	NM_016195		91503597	+1	no_errors	ENST00000416354	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91528105	91528105	+	Missense_Mutation	SNP	C	C	G	rs373257085		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:91528105C>G	ENST00000371728.3	+	30	5113	c.5048C>G	c.(5047-5049)cCt>cGt	p.P1683R	KIF20B_ENST00000416354.1_Missense_Mutation_p.P1713R|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.P1643R	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1683	Interaction with PIN1.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TTGAAATTTCCTATTTCAGAT	0.303																																																	0								C	ARG/PRO	1,4403	2.1+/-5.4	0,1,2201	58.0	65.0	63.0		4928	3.5	0.2	10		63	0,8584		0,0,4292	no	missense	KIF20B	NM_016195.2	103	0,1,6493	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	1643/1781	91528105	1,12987	2202	4292	6494	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.5048C>G	10.37:g.91528105C>G	ENSP00000360793:p.Pro1683Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1713R	ENST00000371728.3	37	c.5138		10	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700752	0.30142	2.27E-4	0.0	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000371728	T;T;T	0.44083	0.93;0.93;0.93	5.34	3.5	0.40072	.	0.141093	0.33401	N	0.004949	T	0.53722	0.1814	L	0.50333	1.59	0.54753	D	0.999983	D;D	0.76494	0.999;0.966	D;D	0.66196	0.942;0.913	T	0.54016	-0.8356	10	0.72032	D	0.01	-7.3656	10.6276	0.45516	0.0:0.8533:0.0:0.1467	.	1683;1643	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	R	1643;1713;1683	ENSP00000260753:P1643R;ENSP00000411545:P1713R;ENSP00000360793:P1683R	ENSP00000260753:P1643R	P	+	2	0	KIF20B	91518085	0.098000	0.21812	0.160000	0.22671	0.311000	0.27955	1.731000	0.38135	0.754000	0.32968	0.561000	0.74099	CCT	KIF20B	-	NULL		0.303	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	C	NM_016195		91528105	+1	no_errors	ENST00000416354	ensembl	human	known	70_37	missense	SNP	0.337	G
KIF26B	55083	genome.wustl.edu	37	1	245530223	245530223	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:245530223G>C	ENST00000407071.2	+	3	993	c.553G>C	c.(553-555)Gac>Cac	p.D185H	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	185					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAACCGCTGTGACATTTGCGC	0.592																																																	0													55.0	58.0	57.0					1																	245530223		2182	4265	6447	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.553G>C	1.37:g.245530223G>C	ENSP00000385545:p.Asp185His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D185H	ENST00000407071.2	37	c.553	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.941028	0.73557	.	.	ENSG00000162849	ENST00000407071	D	0.82803	-1.65	5.44	5.44	0.79542	.	.	.	.	.	D	0.90940	0.7152	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.91377	0.5124	9	0.87932	D	0	.	19.6436	0.95767	0.0:0.0:1.0:0.0	.	185	Q2KJY2	KI26B_HUMAN	H	185	ENSP00000385545:D185H	ENSP00000385545:D185H	D	+	1	0	KIF26B	243596846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.712000	0.92718	0.650000	0.86243	GAC	KIF26B	-	NULL		0.592	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245530223	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF4A	24137	genome.wustl.edu	37	X	69561767	69561767	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:69561767G>C	ENST00000374403.3	+	11	1334	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	KIF4A_ENST00000374388.3_Missense_Mutation_p.E418Q	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	418					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCAGATGTTGGAGAGGATCAT	0.413																																																	0													100.0	100.0	100.0					X																	69561767		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1252G>C	X.37:g.69561767G>C	ENSP00000363524:p.Glu418Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E418Q	ENST00000374403.3	37	c.1252	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898941	0.72754	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.61742	0.08;0.08	4.77	4.77	0.60923	.	0.000000	0.56097	D	0.000022	T	0.74122	0.3675	M	0.70275	2.135	0.58432	D	0.999999	D;P	0.89917	1.0;0.929	D;P	0.87578	0.998;0.834	T	0.74931	-0.3496	10	0.42905	T	0.14	.	15.4492	0.75259	0.0:0.0:1.0:0.0	.	418;418	O95239;O95239-2	KIF4A_HUMAN;.	Q	418	ENSP00000363509:E418Q;ENSP00000363524:E418Q	ENSP00000363509:E418Q	E	+	1	0	KIF4A	69478492	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	8.242000	0.89818	2.203000	0.70933	0.422000	0.28245	GAG	KIF4A	-	NULL		0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69561767	+1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF5B	3799	genome.wustl.edu	37	10	32326243	32326243	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:32326243G>C	ENST00000302418.4	-	8	1107	c.650C>G	c.(649-651)aCa>aGa	p.T217R		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	217	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TTCCGTTTGTGTGTTCTCTTG	0.313			T	"""RET, ALK"""	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													130.0	113.0	118.0					10																	32326243		2202	4299	6501	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.650C>G	10.37:g.32326243G>C	ENSP00000307078:p.Thr217Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T217R	ENST00000302418.4	37	c.650	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815793	0.50527	.	.	ENSG00000170759	ENST00000302418	T	0.74737	-0.87	5.0	5.0	0.66597	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.71821	0.3385	L	0.39326	1.205	0.58432	D	0.999995	P	0.41748	0.761	B	0.43052	0.406	T	0.73745	-0.3886	10	0.46703	T	0.11	.	18.6607	0.91471	0.0:0.0:1.0:0.0	.	217	P33176	KINH_HUMAN	R	217	ENSP00000307078:T217R	ENSP00000307078:T217R	T	-	2	0	KIF5B	32366249	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	4.146000	0.58072	2.449000	0.82847	0.557000	0.71058	ACA	KIF5B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.313	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	G	NM_004521		32326243	-1	no_errors	ENST00000302418	ensembl	human	known	70_37	missense	SNP	1.000	C
KIFC1	3833	genome.wustl.edu	37	6	33368141	33368141	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33368141C>T	ENST00000428849.2	+	3	700				KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTCTGTTCTCAATGGTCAGT	0.512																																																	0																																										SO:0001627	intron_variant	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.250+1977C>T	6.37:g.33368141C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	RNA	SNP	-	NULL	ENST00000428849.2	37	NULL	CCDS34430.1	6																																																																																			KIFC1	-	-		0.512	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	C	NM_002263		33368141	+1	no_errors	ENST00000486695	ensembl	human	known	70_37	rna	SNP	1.000	T
KIFC1	3833	genome.wustl.edu	37	6	33368154	33368154	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33368154C>T	ENST00000428849.2	+	3	700				KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGTCAGTTTCACTGTAATCC	0.547																																																	0																																										SO:0001627	intron_variant	3833			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.250+1990C>T	6.37:g.33368154C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	RNA	SNP	-	NULL	ENST00000428849.2	37	NULL	CCDS34430.1	6																																																																																			KIFC1	-	-		0.547	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	C	NM_002263		33368154	+1	no_errors	ENST00000486695	ensembl	human	known	70_37	rna	SNP	1.000	T
KIFC3	3801	genome.wustl.edu	37	16	57831720	57831720	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:57831720G>A	ENST00000379655.4	-	2	430				KIFC3_ENST00000445690.2_Intron|KIFC3_ENST00000541240.1_Intron|KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000465878.2_5'Flank|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000566975.1_5'UTR	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3						ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GAATGCAGCTGATTCCCCCTG	0.632																																																	0																																										SO:0001627	intron_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.172+263C>T	16.37:g.57831720G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	RNA	SNP	-	NULL	ENST00000379655.4	37	NULL	CCDS10789.2	16																																																																																			KIFC3	-	-		0.632	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	G	NM_005550		57831720	-1	no_errors	ENST00000566975	ensembl	human	known	70_37	rna	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	GL000209.1	27253	27253	+	IGR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrGL000209.1:27253G>C								None (None upstream) : None (None downstream)																							GCAGCTCCCGGAGCTCCTATG	0.577																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.27253G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.R152		37	c.456		GL000209.1																																																																																			KIR3DS1	-	pfam_Immunoglobulin,smart_Ig_sub	0	0.577					KIR3DS1	HGNC			G			27253	+1	no_errors	ENST00000344867	ensembl	human	known	70_37	silent	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	GL000209.1	27299	27299	+	IGR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrGL000209.1:27299G>A								None (None upstream) : None (None downstream)																							GGAGGCCCATGAATGTAGGTT	0.617																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.27299G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E168K		37	c.502		GL000209.1																																																																																			KIR3DS1	-	pfam_Immunoglobulin,smart_Ig_sub	0	0.617					KIR3DS1	HGNC			G			27299	+1	no_errors	ENST00000344867	ensembl	human	known	70_37	missense	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	GL000209.1	27433	27433	+	IGR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrGL000209.1:27433G>A								None (None upstream) : None (None downstream)																							GGTCAAACTCGAGTGACCCAC	0.532																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.27433G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.S212		37	c.636		GL000209.1																																																																																			KIR3DS1	-	smart_Ig_sub	0	0.532					KIR3DS1	HGNC			G			27433	+1	no_errors	ENST00000344867	ensembl	human	known	70_37	silent	SNP	NULL	A
KLF5	688	genome.wustl.edu	37	13	73636341	73636341	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73636341G>A	ENST00000377687.4	+	2	1140	c.604G>A	c.(604-606)Gag>Aag	p.E202K	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.E111K	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	202					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CGCAGCTCCAGAGGTGAACAA	0.532																																																	0													72.0	74.0	74.0					13																	73636341		2203	4300	6503	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.604G>A	13.37:g.73636341G>A	ENSP00000366915:p.Glu202Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E202K	ENST00000377687.4	37	c.604	CCDS9448.1	13	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569129	0.45798	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.06849	3.41;3.25	5.94	5.09	0.68999	.	0.313586	0.34268	N	0.004105	T	0.07413	0.0187	N	0.22421	0.69	0.33626	D	0.605457	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.36615	T	0.2	.	15.0551	0.71908	0.068:0.0:0.932:0.0	.	202	Q13887	KLF5_HUMAN	K	111;202;182	ENSP00000440407:E111K;ENSP00000366915:E202K	ENSP00000366915:E202K	E	+	1	0	KLF5	72534342	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	5.847000	0.69451	1.513000	0.48852	0.561000	0.74099	GAG	KLF5	-	NULL		0.532	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	G			73636341	+1	no_errors	ENST00000377687	ensembl	human	known	70_37	missense	SNP	1.000	A
KLF5	688	genome.wustl.edu	37	13	73636562	73636562	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73636562G>A	ENST00000377687.4	+	2	1361	c.825G>A	c.(823-825)gtG>gtA	p.V275V	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Silent_p.V184V	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	275					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AGACTGCAGTGAAACAATTCC	0.507																																																	0													105.0	95.0	98.0					13																	73636562		2203	4300	6503	SO:0001819	synonymous_variant	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.825G>A	13.37:g.73636562G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	L0R3U5|L0R4T9|Q9UHP8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V275	ENST00000377687.4	37	c.825	CCDS9448.1	13																																																																																			KLF5	-	NULL		0.507	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	G			73636562	+1	no_errors	ENST00000377687	ensembl	human	known	70_37	silent	SNP	1.000	A
KLF5	688	genome.wustl.edu	37	13	73649905	73649905	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:73649905G>A	ENST00000377687.4	+	4	1791	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K	KLF5_ENST00000539231.1_Missense_Mutation_p.E328K	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	419					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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)	p.E419Q(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCGATCGGATGAGCTGACCCG	0.592																																																	2	Substitution - Missense(2)	lung(2)											61.0	60.0	61.0					13																	73649905		2203	4300	6503	SO:0001583	missense	688			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.1255G>A	13.37:g.73649905G>A	ENSP00000366915:p.Glu419Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E419K	ENST00000377687.4	37	c.1255	CCDS9448.1	13	.	.	.	.	.	.	.	.	.	.	G	35	5.436306	0.96168	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.51071	0.72;0.72	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58293	0.2112	N	0.17901	0.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62338	-0.6875	10	0.87932	D	0	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	419	Q13887	KLF5_HUMAN	K	328;419;399	ENSP00000440407:E328K;ENSP00000366915:E419K	ENSP00000366915:E419K	E	+	1	0	KLF5	72547906	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAG	KLF5	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.592	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	G			73649905	+1	no_errors	ENST00000377687	ensembl	human	known	70_37	missense	SNP	1.000	A
KLF9	687	genome.wustl.edu	37	9	73027987	73027987	+	Missense_Mutation	SNP	T	T	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:73027987T>G	ENST00000377126.2	-	1	1553	c.293A>C	c.(292-294)gAc>gCc	p.D98A		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	98	Asp/Glu-rich (acidic).				cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GGTGGTCACGTCGCTGTCGGA	0.612																																																	0													143.0	122.0	129.0					9																	73027987		2203	4300	6503	SO:0001583	missense	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.293A>C	9.37:g.73027987T>G	ENSP00000366330:p.Asp98Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R943|Q16196	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D98A	ENST00000377126.2	37	c.293	CCDS6633.1	9	.	.	.	.	.	.	.	.	.	.	T	10.55	1.381932	0.24944	.	.	ENSG00000119138	ENST00000377126	T	0.04809	3.55	4.85	4.85	0.62838	.	0.169496	0.39146	N	0.001456	T	0.02649	0.0080	N	0.08118	0	0.43199	D	0.995048	B	0.19583	0.037	B	0.09377	0.004	T	0.47711	-0.9096	10	0.09843	T	0.71	.	12.411	0.55468	0.0:0.0:0.0:1.0	.	98	Q13886	KLF9_HUMAN	A	98	ENSP00000366330:D98A	ENSP00000366330:D98A	D	-	2	0	KLF9	72217807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.488000	0.35551	1.826000	0.53198	0.455000	0.32223	GAC	KLF9	-	NULL		0.612	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF9	HGNC	protein_coding	OTTHUMT00000052602.1	T	NM_001206		73027987	-1	no_errors	ENST00000377126	ensembl	human	known	70_37	missense	SNP	1.000	G
KLHDC7A	127707	genome.wustl.edu	37	1	18808470	18808470	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:18808470C>T	ENST00000400664.1	+	1	1047	c.995C>T	c.(994-996)tCg>tTg	p.S332L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	332						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGCTGCCTCGGGAGGCCAA	0.692																																																	0													14.0	17.0	16.0					1																	18808470		2181	4266	6447	SO:0001583	missense	127707			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.995C>T	1.37:g.18808470C>T	ENSP00000383505:p.Ser332Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8W6	Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.S332L	ENST00000400664.1	37	c.995	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.162215	0.57368	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.73363	-0.74	5.02	3.09	0.35607	.	2.335370	0.01777	U	0.031507	T	0.64046	0.2563	L	0.40543	1.245	0.09310	N	1	B;B	0.30146	0.113;0.27	B;B	0.14023	0.01;0.01	T	0.48581	-0.9023	10	0.39692	T	0.17	.	3.7105	0.08418	0.171:0.5719:0.1657:0.0914	.	269;332	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	L	332;269	ENSP00000383505:S332L	ENSP00000383505:S332L	S	+	2	0	KLHDC7A	18681057	0.000000	0.05858	0.000000	0.03702	0.592000	0.36648	0.591000	0.23969	0.474000	0.27392	0.313000	0.20887	TCG	KLHDC7A	-	NULL		0.692	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	HGNC	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18808470	+1	no_errors	ENST00000400664	ensembl	human	known	70_37	missense	SNP	0.000	T
KLHDC7B	113730	genome.wustl.edu	37	22	50986892	50986892	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50986892G>C	ENST00000395676.2	+	1	431	c.297G>C	c.(295-297)gcG>gcC	p.A99A	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	99										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAAGCCGCGATGCCCAGGG	0.706																																																	0													5.0	7.0	7.0					22																	50986892		1872	3931	5803	SO:0001819	synonymous_variant	113730			BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.297G>C	22.37:g.50986892G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Kelch_1,smart_Kelch_1	p.A99	ENST00000395676.2	37	c.297	CCDS14097.2	22																																																																																			KLHDC7B	-	NULL		0.706	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	HGNC	protein_coding	OTTHUMT00000317089.2	G	NM_138433		50986892	+1	no_errors	ENST00000395676	ensembl	human	known	70_37	silent	SNP	0.000	C
KLHL11	55175	genome.wustl.edu	37	17	40010275	40010275	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40010275C>G	ENST00000319121.3	-	2	1904	c.1844G>C	c.(1843-1845)gGa>gCa	p.G615A	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	615										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TTTCCAGCCTCCTATAATGAA	0.443																																																	0													92.0	89.0	90.0					17																	40010275		2203	4300	6503	SO:0001583	missense	55175				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1844G>C	17.37:g.40010275C>G	ENSP00000314608:p.Gly615Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.G615A	ENST00000319121.3	37	c.1844	CCDS11411.1	17	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793760	0.70452	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	D	0.98732	-5.1	5.41	5.41	0.78517	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.98226	0.9413	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99907	1.1183	10	0.56958	D	0.05	-1.603	19.5492	0.95311	0.0:1.0:0.0:0.0	.	615	Q9NVR0	KLH11_HUMAN	A	615;478	ENSP00000314608:G615A	ENSP00000314608:G615A	G	-	2	0	KLHL11	37263801	1.000000	0.71417	0.961000	0.40146	0.925000	0.55904	7.353000	0.79414	2.683000	0.91414	0.650000	0.86243	GGA	KLHL11	-	pfam_Kelch_1,smart_Kelch_1		0.443	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL11	HGNC	protein_coding	OTTHUMT00000257464.2	C	NM_018143		40010275	-1	no_errors	ENST00000319121	ensembl	human	known	70_37	missense	SNP	0.999	G
KLHL13	90293	genome.wustl.edu	37	X	117043457	117043457	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:117043457G>C	ENST00000262820.3	-	5	2082	c.1173C>G	c.(1171-1173)ctC>ctG	p.L391L	KLHL13_ENST00000469946.1_Silent_p.L340L|KLHL13_ENST00000545703.1_Silent_p.L349L|KLHL13_ENST00000541812.1_Silent_p.L375L|KLHL13_ENST00000371882.1_Silent_p.L340L|KLHL13_ENST00000540167.1_Silent_p.L375L|KLHL13_ENST00000539496.1_Silent_p.L394L|KLHL13_ENST00000371876.1_Silent_p.L340L|KLHL13_ENST00000371878.1_Silent_p.L340L	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	391					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAACCACATAGAGAAAATTTC	0.438													G|||	3	0.000794702	0.0	0.0	3775	,	,		14905	0.0		0.0	False		,,,				2504	0.0031																0													103.0	89.0	94.0					X																	117043457		2203	4300	6503	SO:0001819	synonymous_variant	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1173C>G	X.37:g.117043457G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L394	ENST00000262820.3	37	c.1182	CCDS14571.1	X																																																																																			KLHL13	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.438	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		G	NM_033495		117043457	-1	no_errors	ENST00000539496	ensembl	human	known	70_37	silent	SNP	0.990	C
KLK5	25818	genome.wustl.edu	37	19	51452178	51452178	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:51452178G>C	ENST00000336334.3	-	4	881	c.529C>G	c.(529-531)Cat>Gat	p.H177D	KLK5_ENST00000391809.2_Missense_Mutation_p.H177D|CTB-147C22.8_ENST00000594939.1_RNA|CTB-147C22.8_ENST00000601506.1_RNA|KLK5_ENST00000593428.1_Missense_Mutation_p.H177D	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	177	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	epidermal lamellar body (GO:0097209)|extracellular space (GO:0005615)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GAGGGACAATGAGAGGAGACG	0.527																																																	0													90.0	92.0	91.0					19																	51452178		2203	4300	6503	SO:0001583	missense	25818			AF135028	CCDS12810.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167754		"""Kallikreins"""	6366	protein-coding gene	gene with protein product		605643	"""kallikrein 5"""			10514489, 10608802, 1680072, 4, 16800723, 17012259	Standard	NM_012427		Approved	SCTE, KLK-L2	uc002puf.3	Q9Y337		ENST00000336334.3:c.529C>G	19.37:g.51452178G>C	ENSP00000337733:p.His177Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53ZR3|Q9HBG8	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H177D	ENST00000336334.3	37	c.529	CCDS12810.1	19	.	.	.	.	.	.	.	.	.	.	g	1.182	-0.637932	0.03557	.	.	ENSG00000167754	ENST00000336334;ENST00000391809	D;D	0.88046	-2.33;-2.33	4.34	-2.85	0.05734	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.250680	0.02762	N	0.118753	T	0.64182	0.2575	N	0.02345	-0.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62034	-0.6939	10	0.08381	T	0.77	.	2.5827	0.04822	0.0925:0.2966:0.3266:0.2842	.	177	Q9Y337	KLK5_HUMAN	D	177	ENSP00000337733:H177D;ENSP00000375685:H177D	ENSP00000337733:H177D	H	-	1	0	KLK5	56143990	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.421000	0.07053	-0.167000	0.10871	0.655000	0.94253	CAT	KLK5	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.527	KLK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK5	HGNC	protein_coding	OTTHUMT00000465057.1	G	NM_012427		51452178	-1	no_errors	ENST00000336334	ensembl	human	known	70_37	missense	SNP	0.000	C
KNDC1	85442	genome.wustl.edu	37	10	135010587	135010587	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:135010587G>A	ENST00000304613.3	+	11	1781	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	KNDC1_ENST00000368571.2_Missense_Mutation_p.R522Q|KNDC1_ENST00000368572.2_Missense_Mutation_p.R587Q			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	587	KIND 2. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCTCCAGCGAGGCATGGAC	0.662																																																	0													74.0	56.0	62.0					10																	135010587		2203	4300	6503	SO:0001583	missense	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.1760G>A	10.37:g.135010587G>A	ENSP00000304437:p.Arg587Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R587Q	ENST00000304613.3	37	c.1760	CCDS7674.1	10	.	.	.	.	.	.	.	.	.	.	G	14.34	2.507660	0.44558	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.11169	2.8;2.8;2.8	3.76	3.76	0.43208	KIND (2);	0.240754	0.28104	N	0.016590	T	0.21801	0.0525	L	0.43152	1.355	0.37871	D	0.930055	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.962	T	0.02257	-1.1187	10	0.38643	T	0.18	-12.0526	11.2954	0.49276	0.0:0.0:1.0:0.0	.	522;587	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	Q	587;587;522	ENSP00000304437:R587Q;ENSP00000357561:R587Q;ENSP00000357560:R522Q	ENSP00000304437:R587Q	R	+	2	0	KNDC1	134860577	0.998000	0.40836	0.973000	0.42090	0.387000	0.30353	2.615000	0.46368	2.135000	0.66039	0.467000	0.42956	CGA	KNDC1	-	superfamily_Kinase-like_dom,smart_KIND		0.662	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	G	NM_152643		135010587	+1	no_errors	ENST00000368572	ensembl	human	known	70_37	missense	SNP	0.996	A
KNTC1	9735	genome.wustl.edu	37	12	123052845	123052845	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:123052845G>A	ENST00000333479.7	+	21	1819	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D511N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	548					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TAATGAAGATGATCTTAAAGA	0.299																																																	0													121.0	123.0	122.0					12																	123052845		1803	4070	5873	SO:0001583	missense	9735				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.1642G>A	12.37:g.123052845G>A	ENSP00000328236:p.Asp548Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.D548N	ENST00000333479.7	37	c.1642	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503618	0.44558	.	.	ENSG00000184445	ENST00000450485;ENST00000333479	T;T	0.21543	2.0;2.58	5.36	4.36	0.52297	.	0.486350	0.23155	N	0.051310	T	0.14056	0.0340	L	0.36672	1.1	0.80722	D	1	B;B	0.18863	0.031;0.024	B;B	0.13407	0.006;0.009	T	0.09015	-1.0694	10	0.18276	T	0.48	-15.648	7.1674	0.25698	0.263:0.0:0.737:0.0	.	511;548	E7ES84;P50748	.;KNTC1_HUMAN	N	511;548	ENSP00000397992:D511N;ENSP00000328236:D548N	ENSP00000328236:D548N	D	+	1	0	KNTC1	121618798	0.171000	0.23029	1.000000	0.80357	0.750000	0.42670	0.749000	0.26320	2.516000	0.84829	0.460000	0.39030	GAT	KNTC1	-	NULL		0.299	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	G			123052845	+1	no_errors	ENST00000333479	ensembl	human	known	70_37	missense	SNP	0.998	A
KRT16P3	644945	genome.wustl.edu	37	17	20407705	20407705	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:20407705G>C	ENST00000580113.1	-	0	252									keratin 16 pseudogene 3																		CATGGATCTGGAGGAGGTGAA	0.637																																																	0																																												644945			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20407705G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000580113.1	37	NULL		17																																																																																			KRT16P3	-	-		0.637	KRT16P3-004	KNOWN	basic	processed_transcript	KRT16P3	HGNC	pseudogene	OTTHUMT00000443764.1	G	NR_029393		20407705	-1	no_errors	ENST00000580621	ensembl	human	known	70_37	rna	SNP	1.000	C
KRT18	3875	genome.wustl.edu	37	12	53344642	53344642	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53344642C>T	ENST00000388835.3	+	3	819	c.609C>T	c.(607-609)atC>atT	p.I203I	KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_Silent_p.I203I|KRT18_ENST00000388837.2_Silent_p.I203I	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AGACAGAGATCGAGGCTCTCA	0.572																																																	0													23.0	18.0	20.0					12																	53344642		2203	4300	6503	SO:0001819	synonymous_variant	3875				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.609C>T	12.37:g.53344642C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G38|Q5U0N8|Q9BW26	Silent	SNP	pfam_F,prints_Keratin_I	p.I203	ENST00000388835.3	37	c.609	CCDS31809.1	12																																																																																			KRT18	-	pfam_F		0.572	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	C	NM_199187		53344642	+1	no_errors	ENST00000388835	ensembl	human	known	70_37	silent	SNP	1.000	T
KRT35	3886	genome.wustl.edu	37	17	39635695	39635695	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:39635695C>T	ENST00000393989.1	-	3	657	c.615G>A	c.(613-615)agG>agA	p.R205R	KRT35_ENST00000246639.2_Silent_p.R175R	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	205	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CATCCAGGATCCTGCGCAGGC	0.587																																																	0													105.0	97.0	100.0					17																	39635695		2203	4300	6503	SO:0001819	synonymous_variant	3886			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.615G>A	17.37:g.39635695C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O76012|Q92651	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.R205	ENST00000393989.1	37	c.615	CCDS11394.2	17																																																																																			KRT35	-	pfam_F,prints_Keratin_I		0.587	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		C	NM_002280		39635695	-1	no_errors	ENST00000393989	ensembl	human	known	70_37	silent	SNP	0.564	T
KRT6C	286887	genome.wustl.edu	37	12	52863516	52863516	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:52863516G>C	ENST00000252250.6	-	7	1409	c.1362C>G	c.(1360-1362)gtC>gtG	p.V454V		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	454	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GGGCCAGCTTGACATTCATCA	0.597																																																	0													117.0	103.0	108.0					12																	52863516		2203	4300	6503	SO:0001819	synonymous_variant	286887			L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1362C>G	12.37:g.52863516G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V454	ENST00000252250.6	37	c.1362	CCDS8829.1	12																																																																																			KRT6C	-	pfam_F,superfamily_Prefoldin		0.597	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	HGNC	protein_coding	OTTHUMT00000404976.1	G	NM_173086		52863516	-1	no_errors	ENST00000252250	ensembl	human	known	70_37	silent	SNP	0.997	C
KRT5	3852	genome.wustl.edu	37	12	52908959	52908959	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:52908959C>T	ENST00000252242.4	-	9	1930	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	514	Tail.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ccaagacctccaccgaggcca	0.617																																																	0													38.0	35.0	36.0					12																	52908959		2203	4300	6503	SO:0001583	missense	3852				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1540G>A	12.37:g.52908959C>T	ENSP00000252242:p.Gly514Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.G514R	ENST00000252242.4	37	c.1540	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330983	0.41297	.	.	ENSG00000186081	ENST00000252242;ENST00000456000	D	0.96200	-3.94	5.56	2.6	0.31112	.	7739.210000	0.00166	N	0.000004	D	0.91758	0.7393	N	0.25485	0.75	0.09310	N	1	P	0.38195	0.622	B	0.38106	0.265	D	0.85494	0.1187	10	0.35671	T	0.21	.	6.6574	0.22994	0.1462:0.6952:0.0:0.1586	.	514	P13647	K2C5_HUMAN	R	514;479	ENSP00000252242:G514R	ENSP00000252242:G514R	G	-	1	0	KRT5	51195226	0.009000	0.17119	0.044000	0.18714	0.015000	0.08874	0.395000	0.20850	1.343000	0.45638	0.655000	0.94253	GGA	KRT5	-	NULL		0.617	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	KRT5	HGNC	protein_coding	OTTHUMT00000405312.1	C			52908959	-1	no_errors	ENST00000252242	ensembl	human	known	70_37	missense	SNP	0.003	T
KRT71	112802	genome.wustl.edu	37	12	52940257	52940257	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:52940257C>G	ENST00000267119.5	-	7	1207	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	380	Coil 2.|Rod.				hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCCCGCTGCTCAGCATCAGCG	0.607																																																	0													50.0	48.0	49.0					12																	52940257		2203	4300	6503	SO:0001583	missense	112802			AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.1138G>C	12.37:g.52940257C>G	ENSP00000267119:p.Glu380Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E380Q	ENST00000267119.5	37	c.1138	CCDS8831.1	12	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124983	0.56613	.	.	ENSG00000139648	ENST00000267119	D	0.91996	-2.95	4.58	3.68	0.42216	Filament (1);	0.000000	0.43919	D	0.000504	D	0.96034	0.8708	M	0.88906	2.99	0.41772	D	0.989779	D	0.89917	1.0	D	0.97110	1.0	D	0.96119	0.9083	10	0.72032	D	0.01	.	11.0337	0.47789	0.0:0.8431:0.0:0.1569	.	380	Q3SY84	K2C71_HUMAN	Q	380	ENSP00000267119:E380Q	ENSP00000267119:E380Q	E	-	1	0	KRT71	51226524	1.000000	0.71417	0.597000	0.28824	0.370000	0.29829	4.933000	0.63484	1.233000	0.43693	0.561000	0.74099	GAG	KRT71	-	pfam_F,superfamily_Prefoldin		0.607	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT71	HGNC	protein_coding	OTTHUMT00000396487.1	C	NM_033448		52940257	-1	no_errors	ENST00000267119	ensembl	human	known	70_37	missense	SNP	0.995	G
KRTAP10-4	386672	genome.wustl.edu	37	21	45994702	45994702	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:45994702G>A	ENST00000400374.3	+	1	1097	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	TSPEAR_ENST00000397916.1_5'Flank|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	356	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCTGCAGACCCTCCTCC	0.657																																																	0													88.0	100.0	96.0					21																	45994702		2203	4300	6503	SO:0001583	missense	386672			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.1067G>A	21.37:g.45994702G>A	ENSP00000383225:p.Arg356Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AS0	Missense_Mutation	SNP	NULL	p.R356K	ENST00000400374.3	37	c.1067	CCDS42957.1	21	.	.	.	.	.	.	.	.	.	.	g	10.82	1.459632	0.26248	.	.	ENSG00000215454	ENST00000400374;ENST00000334871	T	0.01455	4.87	4.06	-0.00796	0.14007	.	.	.	.	.	T	0.01661	0.0053	L	0.43701	1.375	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.47761	-0.9092	9	0.24483	T	0.36	.	3.3708	0.07220	0.4475:0.0:0.3674:0.1851	.	356	P60372	KR104_HUMAN	K	356;152	ENSP00000383225:R356K	ENSP00000333987:R152K	R	+	2	0	KRTAP10-4	44819130	0.000000	0.05858	0.987000	0.45799	0.994000	0.84299	-0.443000	0.06862	0.005000	0.14708	0.552000	0.68991	AGA	KRTAP10-4	-	NULL		0.657	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	HGNC	protein_coding	OTTHUMT00000128045.1	G	NM_198687		45994702	+1	no_errors	ENST00000400374	ensembl	human	known	70_37	missense	SNP	0.294	A
KSR2	283455	genome.wustl.edu	37	12	118199001	118199001	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:118199001G>A	ENST00000339824.5	-	4	1528	c.801C>T	c.(799-801)atC>atT	p.I267I	KSR2_ENST00000425217.1_Silent_p.I238I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	267	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGTGGTGACGATGTTGGGGG	0.721																																																	0													60.0	75.0	70.0					12																	118199001		1856	4079	5935	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.801C>T	12.37:g.118199001G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.I267	ENST00000339824.5	37	c.801		12																																																																																			KSR2	-	NULL		0.721	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	G	NM_173598		118199001	-1	no_errors	ENST00000339824	ensembl	human	known	70_37	silent	SNP	0.268	A
KTI12	112970	genome.wustl.edu	37	1	52498428	52498428	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:52498428C>T	ENST00000371614.1	-	1	1060	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	336							ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGCAAGTTCTCATTGTTGGGA	0.522																																																	0													88.0	87.0	87.0					1																	52498428		2203	4300	6503	SO:0001583	missense	112970				CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.1006G>A	1.37:g.52498428C>T	ENSP00000360676:p.Glu336Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Chromatin_KTI12	p.E336K	ENST00000371614.1	37	c.1006	CCDS562.1	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242231	0.79912	.	.	ENSG00000198841	ENST00000371614	T	0.30714	1.52	4.64	4.64	0.57946	.	0.074454	0.50627	U	0.000105	T	0.44746	0.1308	L	0.50919	1.6	0.58432	D	0.999996	D	0.64830	0.994	D	0.69824	0.966	T	0.23013	-1.0200	10	0.06494	T	0.89	.	16.682	0.85295	0.0:1.0:0.0:0.0	.	336	Q96EK9	KTI12_HUMAN	K	336	ENSP00000360676:E336K	ENSP00000360676:E336K	E	-	1	0	KTI12	52271016	1.000000	0.71417	0.999000	0.59377	0.907000	0.53573	5.199000	0.65152	2.396000	0.81511	0.557000	0.71058	GAG	KTI12	-	pfam_Chromatin_KTI12		0.522	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KTI12	HGNC	protein_coding	OTTHUMT00000023821.1	C	NM_138417		52498428	-1	no_errors	ENST00000371614	ensembl	human	known	70_37	missense	SNP	1.000	T
KTN1	3895	genome.wustl.edu	37	14	56104059	56104059	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:56104059G>C	ENST00000395314.3	+	11	1761	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q	KTN1_ENST00000438792.2_Missense_Mutation_p.E565Q|KTN1_ENST00000416613.1_Missense_Mutation_p.E565Q|KTN1_ENST00000413890.2_Missense_Mutation_p.E565Q|KTN1_ENST00000395311.1_Missense_Mutation_p.E565Q|KTN1_ENST00000395308.1_Missense_Mutation_p.E565Q|KTN1_ENST00000395309.3_Missense_Mutation_p.E565Q	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	565					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GAACAAAGAAGAGTCTCTACA	0.348			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													99.0	101.0	100.0					14																	56104059		2203	4300	6503	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1693G>C	14.37:g.56104059G>C	ENSP00000378725:p.Glu565Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.E565Q	ENST00000395314.3	37	c.1693	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085417	0.76642	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.34859	1.34;1.43;1.35;1.43;1.34;1.34;1.43	5.29	5.29	0.74685	.	0.140255	0.32161	N	0.006494	T	0.47229	0.1434	L	0.42245	1.32	0.41768	D	0.989759	P;D;P;P	0.56287	0.911;0.975;0.923;0.911	P;P;P;P	0.55260	0.571;0.718;0.772;0.571	T	0.23154	-1.0196	10	0.32370	T	0.25	-14.8265	19.2862	0.94072	0.0:0.0:1.0:0.0	.	565;565;565;565	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	Q	565	ENSP00000394992:E565Q;ENSP00000378720:E565Q;ENSP00000391964:E565Q;ENSP00000378725:E565Q;ENSP00000378719:E565Q;ENSP00000378722:E565Q;ENSP00000388807:E565Q	ENSP00000378719:E565Q	E	+	1	0	KTN1	55173812	1.000000	0.71417	0.996000	0.52242	0.776000	0.43924	7.523000	0.81856	2.621000	0.88768	0.563000	0.77884	GAG	KTN1	-	NULL		0.348	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56104059	+1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C
LACTB	114294	genome.wustl.edu	37	15	63433500	63433500	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:63433500G>C	ENST00000261893.4	+	6	1212	c.1140G>C	c.(1138-1140)aaG>aaC	p.K380N	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	380						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ACAATAAAAAGAAACGTCTTG	0.348																																					Melanoma(85;443 1381 6215 27308 35583)												0													93.0	91.0	92.0					15																	63433500		2203	4300	6503	SO:0001583	missense	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.1140G>C	15.37:g.63433500G>C	ENSP00000261893:p.Lys380Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P83096	Missense_Mutation	SNP	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like	p.K380N	ENST00000261893.4	37	c.1140	CCDS10182.1	15	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801361	0.31869	.	.	ENSG00000103642	ENST00000261893	T	0.44083	0.93	5.64	2.58	0.30949	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.180261	0.64402	N	0.000014	T	0.24005	0.0581	N	0.20357	0.565	0.80722	D	1	B	0.28400	0.21	B	0.28465	0.09	T	0.04165	-1.0972	10	0.20046	T	0.44	-5.681	8.4571	0.32906	0.141:0.0:0.7238:0.1352	.	380	P83111	LACTB_HUMAN	N	380	ENSP00000261893:K380N	ENSP00000261893:K380N	K	+	3	2	LACTB	61220553	0.997000	0.39634	1.000000	0.80357	0.992000	0.81027	0.304000	0.19228	0.777000	0.33496	0.563000	0.77884	AAG	LACTB	-	pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like		0.348	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LACTB	HGNC	protein_coding	OTTHUMT00000256224.1	G	NM_032857		63433500	+1	no_errors	ENST00000261893	ensembl	human	known	70_37	missense	SNP	1.000	C
LAMA4	3910	genome.wustl.edu	37	6	112462006	112462006	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:112462006C>T	ENST00000230538.7	-	22	3329	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	LAMA4_ENST00000424408.2_Missense_Mutation_p.E971K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E971K|LAMA4_ENST00000389463.4_Missense_Mutation_p.E971K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	978	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACTGTGTCCTCAGGGTCCAGG	0.418																																																	0													89.0	84.0	86.0					6																	112462006		2203	4300	6503	SO:0001583	missense	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2932G>A	6.37:g.112462006C>T	ENSP00000230538:p.Glu978Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.E978K	ENST00000230538.7	37	c.2932	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	C	9.260	1.042913	0.19748	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.9	5.03	0.67393	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.352139	0.35096	N	0.003455	T	0.54111	0.1838	L	0.42744	1.35	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.005	T	0.54702	-0.8254	10	0.27785	T	0.31	.	10.1357	0.42706	0.0:0.8499:0.0:0.1501	.	978;971	Q16363;Q16363-2	LAMA4_HUMAN;.	K	978;971;971;971	ENSP00000230538:E978K;ENSP00000429488:E971K;ENSP00000374114:E971K;ENSP00000416470:E971K	ENSP00000230538:E978K	E	-	1	0	LAMA4	112568699	0.905000	0.30787	0.562000	0.28370	0.170000	0.22686	1.699000	0.37804	1.511000	0.48818	0.650000	0.86243	GAG	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.418	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	C	NM_001105206		112462006	-1	no_errors	ENST00000230538	ensembl	human	known	70_37	missense	SNP	0.836	T
LATS1	9113	genome.wustl.edu	37	6	150005474	150005474	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:150005474G>C	ENST00000543571.1	-	4	1298	c.751C>G	c.(751-753)Cca>Gca	p.P251A	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.P251A|LATS1_ENST00000392273.3_Missense_Mutation_p.P251A	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGGCCTCTTGGAGGTGGTGGA	0.512																																																	0													161.0	150.0	154.0					6																	150005474		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.751C>G	6.37:g.150005474G>C	ENSP00000437550:p.Pro251Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,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.P251A	ENST00000543571.1	37	c.751	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153798	0.57259	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.94280	0.69;0.69;3.27;-3.39	4.94	4.94	0.65067	.	0.000000	0.51477	D	0.000086	D	0.93220	0.7840	L	0.47716	1.5	0.48395	D	0.999649	D;D;P	0.63880	0.97;0.993;0.888	P;P;B	0.58520	0.681;0.84;0.355	D	0.92343	0.5883	9	.	.	.	.	18.1544	0.89686	0.0:0.0:1.0:0.0	.	103;251;251	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	A	251;251;251;197	ENSP00000437550:P251A;ENSP00000253339:P251A;ENSP00000444678:P251A;ENSP00000441265:P197A	.	P	-	1	0	LATS1	150047167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.282000	0.76494	0.655000	0.94253	CCA	LATS1	-	NULL		0.512	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150005474	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	C
LATS1	9113	genome.wustl.edu	37	6	150005552	150005552	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:150005552G>C	ENST00000543571.1	-	4	1220	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.Q225E|LATS1_ENST00000392273.3_Missense_Mutation_p.Q225E	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGGTGAGCTTGAACAAATGCT	0.532																																																	0													111.0	98.0	102.0					6																	150005552		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.673C>G	6.37:g.150005552G>C	ENSP00000437550:p.Gln225Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,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.Q225E	ENST00000543571.1	37	c.673	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387697	0.61956	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	T;T;T;D	0.90504	0.66;0.66;3.25;-2.68	4.9	4.9	0.64082	.	0.130827	0.34507	N	0.003914	D	0.92192	0.7524	L	0.55481	1.735	0.47698	D	0.999491	B;B;P	0.49447	0.025;0.252;0.924	B;B;P	0.62298	0.031;0.092;0.9	D	0.91300	0.5066	9	.	.	.	.	18.0704	0.89404	0.0:0.0:1.0:0.0	.	77;225;225	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	E	225;225;225;171	ENSP00000437550:Q225E;ENSP00000253339:Q225E;ENSP00000444678:Q225E;ENSP00000441265:Q171E	.	Q	-	1	0	LATS1	150047245	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.241000	0.95402	2.265000	0.75225	0.557000	0.71058	CAA	LATS1	-	NULL		0.532	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		150005552	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	C
LCE1A	353131	genome.wustl.edu	37	1	152800280	152800280	+	Nonstop_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152800280G>T	ENST00000335123.2	+	1	332	c.332G>T	c.(331-333)tGa>tTa	p.*111L		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	0					keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTGCTGCTGAAGCGGACTC	0.607																																																	0													14.0	17.0	16.0					1																	152800280		2188	4284	6472	SO:0001578	stop_lost	353131				CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.332G>T	1.37:g.152800280G>T	ENSP00000334869:p.*111Leuext*6	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonstop_Mutation	SNP	NULL	p.*111L	ENST00000335123.2	37	c.332	CCDS1028.1	1	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193745	0.22037	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	.	.	.	4.02	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7529	0.28907	0.1181:0.0:0.8819:0.0	.	.	.	.	L	111	.	.	X	+	2	2	LCE1A	151066904	0.119000	0.22226	0.766000	0.31476	0.703000	0.40648	0.718000	0.25866	1.030000	0.39839	0.563000	0.77884	TGA	LCE1A	-	NULL		0.607	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1A	HGNC	protein_coding	OTTHUMT00000034660.2	G	NM_178348		152800280	+1	no_errors	ENST00000335123	ensembl	human	known	70_37	nonstop	SNP	0.895	T
LBR	3930	genome.wustl.edu	37	1	225600261	225600261	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:225600261G>C	ENST00000338179.2	-	8	1104	c.979C>G	c.(979-981)Ctt>Gtt	p.L327V	LBR_ENST00000272163.4_Missense_Mutation_p.L327V|AC092811.1_ENST00000366845.2_5'Flank	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	327					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GCAAACTGAAGAAAATGACTG	0.448																																																	0													80.0	82.0	81.0					1																	225600261		2203	4300	6503	SO:0001583	missense	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.979C>G	1.37:g.225600261G>C	ENSP00000339883:p.Leu327Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.L327V	ENST00000338179.2	37	c.979	CCDS1545.1	1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303727	0.23736	.	.	ENSG00000143815	ENST00000272163;ENST00000338179	D;D	0.97505	-4.41;-4.41	6.06	3.12	0.35913	.	0.127896	0.52532	D	0.000063	D	0.93442	0.7908	L	0.43757	1.38	0.38072	D	0.936411	B	0.27068	0.167	B	0.36186	0.219	D	0.86915	0.2063	10	0.20519	T	0.43	-17.2825	2.8292	0.05495	0.1381:0.212:0.4731:0.1768	.	327	Q14739	LBR_HUMAN	V	327	ENSP00000272163:L327V;ENSP00000339883:L327V	ENSP00000272163:L327V	L	-	1	0	LBR	223666884	0.989000	0.36119	0.749000	0.31150	0.392000	0.30506	0.166000	0.16583	0.908000	0.36671	0.650000	0.86243	CTT	LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.448	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	G	NM_002296		225600261	-1	no_errors	ENST00000272163	ensembl	human	known	70_37	missense	SNP	0.929	C
LCMT1	51451	genome.wustl.edu	37	16	25162856	25162856	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:25162856C>G	ENST00000399069.3	+	5	559				LCMT1_ENST00000572869.1_3'UTR|RP11-266L9.2_ENST00000562280.1_RNA|LCMT1_ENST00000380966.4_Intron	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1						C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TTTTTCTCCTCTTTCCCATCT	0.418																																					Colon(200;565 2072 24396 47922 50898)												0													90.0	85.0	87.0					16																	25162856		1878	4106	5984	SO:0001627	intron_variant	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.405-19C>G	16.37:g.25162856C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	RNA	SNP	-	NULL	ENST00000399069.3	37	NULL	CCDS45445.1	16																																																																																			LCMT1	-	-		0.418	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT1	HGNC	protein_coding	OTTHUMT00000435747.4	C	NM_016309		25162856	+1	no_errors	ENST00000572869	ensembl	human	known	70_37	rna	SNP	0.000	G
LCMT2	9836	genome.wustl.edu	37	15	43622163	43622163	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:43622163C>T	ENST00000305641.5	-	1	640	c.525G>A	c.(523-525)gcG>gcA	p.A175A	LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	175					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CGTCGAGCCCCGCGGCGCCCA	0.716																																																	0													22.0	26.0	25.0					15																	43622163		2195	4294	6489	SO:0001819	synonymous_variant	9836			AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.525G>A	15.37:g.43622163C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4JFT6|Q96B55|Q9NR10	Silent	SNP	pfam_LCM_MeTrfase	p.A175	ENST00000305641.5	37	c.525	CCDS10094.1	15																																																																																			LCMT2	-	pfam_LCM_MeTrfase		0.716	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCMT2	HGNC	protein_coding	OTTHUMT00000253205.1	C	NM_014793		43622163	-1	no_errors	ENST00000305641	ensembl	human	known	70_37	silent	SNP	0.038	T
LCN8	138307	genome.wustl.edu	37	9	139649782	139649782	+	Missense_Mutation	SNP	C	C	T	rs572429888	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:139649782C>T	ENST00000371688.3	-	5	630	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	135					response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CTCAAGGCTCCGAGCTGTGGG	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		16240	0.0		0.0	False		,,,				2504	0.002																0													28.0	36.0	33.0					9																	139649782		2203	4300	6503	SO:0001583	missense	138307			AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000371688.3:c.335G>A	9.37:g.139649782C>T	ENSP00000360753:p.Arg112Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4A8|A6NMN9|Q5T5R4	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.R112Q	ENST00000371688.3	37	c.335	CCDS35183.1	9	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354379	0.61293	.	.	ENSG00000204001	ENST00000371688	T	0.37584	1.19	2.83	2.83	0.33086	.	.	.	.	.	T	0.53834	0.1821	M	0.62723	1.935	0.27457	N	0.953271	D	0.89917	1.0	D	0.87578	0.998	T	0.37103	-0.9720	9	0.87932	D	0	.	9.3324	0.38030	0.0:1.0:0.0:0.0	.	112	Q6JVE9-2	.	Q	112	ENSP00000360753:R112Q	ENSP00000360753:R112Q	R	-	2	0	LCN8	138769603	0.213000	0.23551	0.813000	0.32504	0.538000	0.34931	0.797000	0.26999	1.888000	0.54679	0.491000	0.48974	CGG	LCN8	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.672	LCN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN8	HGNC	protein_coding	OTTHUMT00000055109.1	C	NM_178469		139649782	-1	no_errors	ENST00000371688	ensembl	human	known	70_37	missense	SNP	0.861	T
LCTL	197021	genome.wustl.edu	37	15	66857046	66857046	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:66857046C>G	ENST00000341509.5	-	2	381	c.250G>C	c.(250-252)Gat>Cat	p.D84H	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	84					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGGCTACATCTGCCGTCTCA	0.602																																																	0													199.0	130.0	154.0					15																	66857046		2201	4299	6500	SO:0001583	missense	197021			AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.250G>C	15.37:g.66857046C>G	ENSP00000343490:p.Asp84His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQY0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.D84H	ENST00000341509.5	37	c.250	CCDS10220.1	15	.	.	.	.	.	.	.	.	.	.	C	17.65	3.443155	0.63067	.	.	ENSG00000188501	ENST00000341509	T	0.45276	0.9	5.28	5.28	0.74379	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.049250	0.85682	D	0.000000	T	0.72455	0.3462	M	0.93106	3.38	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.80374	-0.1409	10	0.87932	D	0	-16.8446	17.5018	0.87734	0.0:1.0:0.0:0.0	.	84	Q6UWM7	LCTL_HUMAN	H	84	ENSP00000343490:D84H	ENSP00000343490:D84H	D	-	1	0	LCTL	64644100	1.000000	0.71417	0.857000	0.33713	0.063000	0.16089	7.409000	0.80053	2.472000	0.83506	0.563000	0.77884	GAT	LCTL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.602	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCTL	HGNC	protein_coding	OTTHUMT00000256921.2	C	NM_207338		66857046	-1	no_errors	ENST00000341509	ensembl	human	known	70_37	missense	SNP	1.000	G
LEKR1	389170	genome.wustl.edu	37	3	156544666	156544666	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:156544666G>A	ENST00000470811.1	+	1	70				LEKR1_ENST00000498839.1_Intron|LEKR1_ENST00000356539.4_Intron|LEKR1_ENST00000483177.1_Intron|LEKR1_ENST00000489350.1_Intron|LEKR1_ENST00000491763.1_5'UTR|LEKR1_ENST00000477399.1_Intron			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTTGAAAGCTGAACGTGAGTT	0.473																																																	0																																										SO:0001627	intron_variant	389170			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-1266+501G>A	3.37:g.156544666G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000470811.1	37	NULL		3																																																																																			LEKR1	-	-		0.473	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	Uniprot_genename	protein_coding	OTTHUMT00000351625.3	G	NM_001004316		156544666	+1	no_errors	ENST00000491763	ensembl	human	known	70_37	rna	SNP	0.000	A
LEPRE1	64175	genome.wustl.edu	37	1	43213019	43213019	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:43213019C>G	ENST00000296388.5	-	14	2030	c.1979G>C	c.(1978-1980)gGa>gCa	p.G660A	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.G660A|LEPRE1_ENST00000236040.4_Missense_Mutation_p.G660A			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	660	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGCCTTCACTCCATGTGGGTT	0.627											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													55.0	56.0	56.0					1																	43213019		2202	4300	6502	SO:0001583	missense	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1979G>C	1.37:g.43213019C>G	ENSP00000296388:p.Gly660Ala	Somatic	914	WXS	Illumina HiSeq	Phase_IV	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.G660A	ENST00000296388.5	37	c.1979	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881413	0.91740	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.60424	0.19;0.19;0.19	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76547	-0.2919	10	0.87932	D	0	-16.8943	16.4003	0.83639	0.0:1.0:0.0:0.0	.	660;525;660	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	A	660;660;660;525	ENSP00000380245:G660A;ENSP00000236040:G660A;ENSP00000296388:G660A	ENSP00000236040:G660A	G	-	2	0	LEPRE1	42985606	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.466000	0.80914	2.466000	0.83321	0.655000	0.94253	GGA	LEPRE1	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph		0.627	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	C	NM_022356		43213019	-1	no_errors	ENST00000236040	ensembl	human	known	70_37	missense	SNP	1.000	G
LGALS3	3958	genome.wustl.edu	37	14	55609464	55609464	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:55609464C>G	ENST00000254301.9	+	5	855	c.594C>G	c.(592-594)ttC>ttG	p.F198L	LGALS3_ENST00000553755.1_3'UTR|LGALS3_ENST00000554715.1_Missense_Mutation_p.F198L	NM_002306.3	NP_002297.2	P17931	LEG3_HUMAN	lectin, galactoside-binding, soluble, 3	198	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				eosinophil chemotaxis (GO:0048245)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|mononuclear cell migration (GO:0071674)|mRNA processing (GO:0006397)|negative regulation of endocytosis (GO:0045806)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of immunological synapse formation (GO:2000521)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell receptor signaling pathway (GO:0050860)|neutrophil chemotaxis (GO:0030593)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of mononuclear cell migration (GO:0071677)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of T cell apoptotic process (GO:0070232)|regulation of T cell proliferation (GO:0042129)|RNA splicing (GO:0008380)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)	carbohydrate binding (GO:0030246)|chemoattractant activity (GO:0042056)|IgE binding (GO:0019863)|laminin binding (GO:0043236)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|prostate(1)	3						GGAAACCATTCAAAGTAAGTT	0.358																																																	0													58.0	59.0	59.0					14																	55609464		1821	4066	5887	SO:0001583	missense	3958			M64303	CCDS41956.1	14q22.3	2014-03-19	2007-02-01		ENSG00000131981	ENSG00000131981		"""Lectins, galactoside-binding"", ""Endogenous ligands"""	6563	protein-coding gene	gene with protein product	"""galectin 3"""	153619		LGALS2		2009535, 8063692	Standard	NR_003225		Approved	MAC-2, GALIG	uc001xbr.3	P17931	OTTHUMG00000171030	ENST00000254301.9:c.594C>G	14.37:g.55609464C>G	ENSP00000254301:p.Phe198Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC38|Q16005|Q6IBA7|Q96J47	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.F198L	ENST00000254301.9	37	c.594	CCDS41956.1	14	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323431	0.41096	.	.	ENSG00000131981	ENST00000254301;ENST00000554715	T;T	0.11604	2.76;2.76	5.07	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	H	0.95437	3.67	0.58432	D	0.99999	D	0.76494	0.999	D	0.85130	0.997	T	0.40232	-0.9574	10	0.87932	D	0	.	8.2401	0.31654	0.0:0.7523:0.0:0.2477	.	198	P17931	LEG3_HUMAN	L	198	ENSP00000254301:F198L;ENSP00000451381:F198L	ENSP00000254301:F198L	F	+	3	2	LGALS3	54679217	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	1.595000	0.36708	0.541000	0.28827	-0.793000	0.03317	TTC	LGALS3	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.358	LGALS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3	HGNC	protein_coding	OTTHUMT00000411309.1	C	NM_002306		55609464	+1	no_errors	ENST00000254301	ensembl	human	known	70_37	missense	SNP	1.000	G
LGR4	55366	genome.wustl.edu	37	11	27390317	27390317	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:27390317C>G	ENST00000379214.4	-	18	2396	c.1953G>C	c.(1951-1953)atG>atC	p.M651I	LGR4_ENST00000389858.4_Missense_Mutation_p.M627I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	651					bone mineralization (GO:0030282)|bone remodeling (GO:0046849)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cell differentiation involved in metanephros development (GO:0072202)|epithelial cell proliferation (GO:0050673)|innate immune response (GO:0045087)|male genitalia development (GO:0030539)|metanephric glomerulus development (GO:0072224)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TCCCATTTTTCATTATATCTT	0.418																																																	0													86.0	84.0	84.0					11																	27390317		2202	4299	6501	SO:0001583	missense	55366			AF257182	CCDS31449.1	11p14-p13	2012-08-21	2011-01-25	2004-11-12	ENSG00000205213	ENSG00000205213		"""GPCR / Class A : Orphans"""	13299	protein-coding gene	gene with protein product		606666	"""G protein-coupled receptor 48"", ""leucine-rich repeat-containing G protein-coupled receptor 4"""	GPR48		10894923	Standard	NM_018490		Approved		uc001mrj.4	Q9BXB1	OTTHUMG00000133508	ENST00000379214.4:c.1953G>C	11.37:g.27390317C>G	ENSP00000368516:p.Met651Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCH3|G5E9B3|Q8N537|Q9NYD1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.M651I	ENST00000379214.4	37	c.1953	CCDS31449.1	11	.	.	.	.	.	.	.	.	.	.	C	0.063	-1.219828	0.01542	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	D;D	0.85556	-2.0;-2.0	5.81	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.636089	0.17343	N	0.177691	T	0.68339	0.2990	N	0.10874	0.06	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61720	-0.7005	10	0.13470	T	0.59	.	8.8884	0.35418	0.2821:0.5983:0.1196:0.0	.	627;651	G5E9B3;Q9BXB1	.;LGR4_HUMAN	I	651;627	ENSP00000368516:M651I;ENSP00000374508:M627I	ENSP00000368516:M651I	M	-	3	0	LGR4	27346893	0.961000	0.32948	0.981000	0.43875	0.022000	0.10575	0.175000	0.16762	2.741000	0.93983	0.650000	0.86243	ATG	LGR4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR4	HGNC	protein_coding	OTTHUMT00000257467.1	C	NM_018490		27390317	-1	no_errors	ENST00000379214	ensembl	human	known	70_37	missense	SNP	0.999	G
LGR6	59352	genome.wustl.edu	37	1	202250137	202250137	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:202250137C>T	ENST00000367278.3	+	6	805				LGR6_ENST00000308543.3_Intron|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6						G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CTGGCACTTTCTCTGGAATAT	0.567																																																	0																																										SO:0001627	intron_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.716+157C>T	1.37:g.202250137C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	RNA	SNP	-	NULL	ENST00000367278.3	37	NULL	CCDS30971.1	1																																																																																			LGR6	-	-		0.567	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	C	NM_021636		202250137	+1	no_errors	ENST00000506931	ensembl	human	putative	70_37	rna	SNP	0.009	T
LILRA5	353514	genome.wustl.edu	37	19	54822829	54822829	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54822829C>T	ENST00000301219.3	-	5	686	c.567G>A	c.(565-567)ctG>ctA	p.L189L	AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Silent_p.L189L|LILRA5_ENST00000346508.3_Silent_p.L177L|LILRA5_ENST00000446712.3_Silent_p.L177L	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	189	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CACTGGGGGTCAGCTGTGAGT	0.597																																																	0													53.0	55.0	54.0					19																	54822829		2203	4300	6503	SO:0001819	synonymous_variant	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.567G>A	19.37:g.54822829C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHI3	Silent	SNP	smart_Ig_sub,smart_Ig_sub2	p.L189	ENST00000301219.3	37	c.567	CCDS12888.1	19																																																																																			LILRA5	-	smart_Ig_sub		0.597	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	HGNC	protein_coding	OTTHUMT00000140231.1	C	NM_181985		54822829	-1	no_errors	ENST00000301219	ensembl	human	known	70_37	silent	SNP	0.000	T
LIN9	286826	genome.wustl.edu	37	1	226465515	226465515	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:226465515C>T	ENST00000328205.5	-	7	1236	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	LIN9_ENST00000481685.1_Missense_Mutation_p.E196K|LIN9_ENST00000366801.1_Missense_Mutation_p.E180K	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	215	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		AAAGGAATTTCATCTGGGAGA	0.343																																					Ovarian(197;1696 2974 11248 14117)												0													124.0	128.0	127.0					1																	226465515		2203	4300	6503	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.691G>A	1.37:g.226465515C>T	ENSP00000329102:p.Glu231Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.E231K	ENST00000328205.5	37	c.691	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760235	0.89932	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685;ENST00000366807	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	L	0.43646	1.37	0.80722	D	1	D;P;D	0.54964	0.961;0.875;0.969	P;P;P	0.57101	0.813;0.591;0.793	T	0.68104	-0.5497	9	0.44086	T	0.13	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	196;215;365	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	K	191;231;286;180;196;365	.	ENSP00000329102:E231K	E	-	1	0	LIN9	224532138	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.380000	0.79704	2.785000	0.95823	0.655000	0.94253	GAA	LIN9	-	pfam_DIRP		0.343	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	C	NM_173083		226465515	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM230C	26080	genome.wustl.edu	37	22	21663445	21663445	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:21663445C>T	ENST00000436681.1	-	0	725																											ATGCCCTGGGCGGCGTCCTCC	0.721																																																	0																																												26080																															22.37:g.21663445C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			LINC00281	-	-		0.721	KB-1183D5.13-003	KNOWN	basic	lincRNA	LINC00281	HGNC	lincRNA	OTTHUMT00000320109.1	C			21663445	-1	no_errors	ENST00000436681	ensembl	human	known	70_37	rna	SNP	0.193	T
LINC00319	284836	genome.wustl.edu	37	21	44870215	44870215	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:44870215C>T	ENST00000448049.1	+	0	603									long intergenic non-protein coding RNA 319																		CACCCAGGCTCTCACAGTGGA	0.582																																																	0																																												284836			AK095355		21q22.3	2013-05-31	2011-08-11	2011-08-11	ENSG00000188660	ENSG00000188660		"""Long non-coding RNAs"""	19730	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 125"", ""non-protein coding RNA 319"""	C21orf125, NCRNA00319			Standard	NR_026960		Approved	PRED49, FLJ38036	uc002zdg.3		OTTHUMG00000086866		21.37:g.44870215C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000448049.1	37	NULL		21																																																																																			LINC00319	-	-		0.582	LINC00319-001	KNOWN	basic	lincRNA	LINC00319	HGNC	lincRNA	OTTHUMT00000195624.1	C	NR_026960		44870215	+1	no_errors	ENST00000342757	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00523	283601	genome.wustl.edu	37	14	101138355	101138355	+	lincRNA	SNP	A	A	G	rs76658554		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:101138355A>G	ENST00000556697.1	+	0	1314							Q86TU6	CN070_HUMAN	long intergenic non-protein coding RNA 523																		gagggccgtgacagcctctct	0.438																																																	0																																												283601					14q32.2	2012-10-12	2011-11-30	2011-11-30	ENSG00000196273	ENSG00000196273		"""Long non-coding RNAs"""	20117	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 70"""	C14orf70			Standard	NR_024096		Approved		uc001yhr.1	Q86TU6	OTTHUMG00000171592		14.37:g.101138355A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUP4	RNA	SNP	-	NULL	ENST00000556697.1	37	NULL		14																																																																																			LINC00523	-	-		0.438	LINC00523-001	KNOWN	basic	lincRNA	LINC00523	HGNC	lincRNA	OTTHUMT00000414340.1	A	NR_024096		101138355	+1	no_errors	ENST00000360899	ensembl	human	known	70_37	rna	SNP	0.000	G
COMMD9	29099	genome.wustl.edu	37	11	36293145	36293145	+	IGR	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:36293145C>A	ENST00000263401.5	-	0	1745				LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9											kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				acaatcacctctgtgcctgtg	0.512																																																	0													96.0	77.0	84.0					11																	36293145		2170	4232	6402	SO:0001628	intergenic_variant	399879			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333		11.37:g.36293145C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PAN2|Q96FI2|Q9H0R0	RNA	SNP	-	NULL	ENST00000263401.5	37	NULL	CCDS7900.1	11	.	.	.	.	.	.	.	.	.	.	C	9.115	1.007478	0.19199	.	.	ENSG00000196559	ENST00000355500	.	.	.	2.37	0.421	0.16451	.	.	.	.	.	T	0.38931	0.1059	.	.	.	.	.	.	.	.	.	.	.	.	T	0.48906	-0.8993	4	0.87932	D	0	.	3.5527	0.07853	0.0:0.5749:0.2661:0.1589	.	.	.	.	I	71	.	ENSP00000347687:R71I	R	-	2	0	C11orf55	36249721	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.665000	0.01965	0.121000	0.18284	0.655000	0.94253	AGA	LINC00610	-	-		0.512	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINC00610	HGNC	protein_coding	OTTHUMT00000389196.1	C	NM_014186		36293145	-1	no_errors	ENST00000355500	ensembl	human	known	70_37	rna	SNP	0.000	A
COMMD9	29099	genome.wustl.edu	37	11	36293351	36293351	+	IGR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:36293351C>T	ENST00000263401.5	-	0	1745				LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000533308.1_5'Flank	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9											kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AGATGGACCTCATCATCACTG	0.527																																																	0													59.0	60.0	60.0					11																	36293351		2202	4298	6500	SO:0001628	intergenic_variant	399879			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333		11.37:g.36293351C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PAN2|Q96FI2|Q9H0R0	RNA	SNP	-	NULL	ENST00000263401.5	37	NULL	CCDS7900.1	11	.	.	.	.	.	.	.	.	.	.	C	4.288	0.052570	0.08291	.	.	ENSG00000196559	ENST00000355500	.	.	.	2.87	-5.74	0.02391	.	.	.	.	.	T	0.25195	0.0612	.	.	.	.	.	.	.	.	.	.	.	.	T	0.36089	-0.9762	4	0.87932	D	0	.	1.2133	0.01909	0.1862:0.3518:0.2863:0.1756	.	.	.	.	I	2	.	ENSP00000347687:M2I	M	-	3	0	C11orf55	36249927	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.451000	0.02387	-1.500000	0.01819	-0.302000	0.09304	ATG	LINC00610	-	-		0.527	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINC00610	HGNC	protein_coding	OTTHUMT00000389196.1	C	NM_014186		36293351	-1	no_errors	ENST00000355500	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00661	126536	genome.wustl.edu	37	19	16136857	16136857	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:16136857G>C	ENST00000549354.2	+	0	1927					NR_026828.1				long intergenic non-protein coding RNA 661																		TCTCATTGGAGAATCCAGGCA	0.602											OREG0025325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												126536			AI184190, CR749400		19p13.12	2012-10-12			ENSG00000205396	ENSG00000205396		"""Long non-coding RNAs"""	27002	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_026828		Approved		uc002nbw.2		OTTHUMG00000169715		19.37:g.16136857G>C		Somatic	708	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000549354.2	37	NULL		19																																																																																			LINC00661	-	-		0.602	LINC00661-001	KNOWN	basic	lincRNA	LINC00661	HGNC	processed_transcript	OTTHUMT00000405577.4	G	NR_026828		16136857	+1	no_errors	ENST00000379899	ensembl	human	known	70_37	rna	SNP	1.000	C
LINGO4	339398	genome.wustl.edu	37	1	151775027	151775027	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:151775027C>G	ENST00000368820.3	-	2	1091	c.154G>C	c.(154-156)Gag>Cag	p.E52Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	52	LRRNT.					integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTACAGCCTCCAGTTGCCTG	0.652																																																	0													35.0	24.0	28.0					1																	151775027		2201	4297	6498	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.154G>C	1.37:g.151775027C>G	ENSP00000357810:p.Glu52Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E52Q	ENST00000368820.3	37	c.154	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653025	0.29336	.	.	ENSG00000213171	ENST00000368820	T	0.79653	-1.29	5.41	5.41	0.78517	Leucine-rich repeat-containing N-terminal (1);	0.410013	0.20799	N	0.085477	T	0.49575	0.1565	N	0.08118	0	0.27489	N	0.952338	P	0.44776	0.843	P	0.45232	0.474	T	0.42649	-0.9439	10	0.17832	T	0.49	.	10.0064	0.41959	0.0:0.911:0.0:0.089	.	52	Q6UY18	LIGO4_HUMAN	Q	52	ENSP00000357810:E52Q	ENSP00000357810:E52Q	E	-	1	0	LINGO4	150041651	0.626000	0.27120	1.000000	0.80357	0.978000	0.69477	1.517000	0.35867	2.822000	0.97130	0.557000	0.71058	GAG	LINGO4	-	smart_LRR-contain_N		0.652	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	C	XM_291387		151775027	-1	no_errors	ENST00000368820	ensembl	human	known	70_37	missense	SNP	1.000	G
LIPC	3990	genome.wustl.edu	37	15	58853062	58853062	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:58853062G>C	ENST00000356113.6	+	9	1666		c.e9-1		LIPC_ENST00000414170.3_Splice_Site|LIPC_ENST00000299022.5_Splice_Site|LIPC_ENST00000433326.2_Splice_Site			P11150	LIPC_HUMAN	lipase, hepatic						cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		tctctctctAGTTTATCATTA	0.328																																																	0													60.0	52.0	55.0					15																	58853062		2192	4292	6484	SO:0001630	splice_region_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1052-1G>C	15.37:g.58853062G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUB4|A8K9B6|O43571|P78529|Q99465	Splice_Site	SNP	-	e7-1	ENST00000356113.6	37	c.1052-1	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574175	0.86542	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0368	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPC	56640354	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	4.316000	0.59178	2.735000	0.93741	0.563000	0.77884	.	LIPC	-	-		0.328	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	G		Intron	58853062	+1	no_errors	ENST00000299022	ensembl	human	known	70_37	splice_site	SNP	1.000	C
LIPC	3990	genome.wustl.edu	37	15	58853088	58853088	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:58853088G>C	ENST00000356113.6	+	9	1692	c.1077G>C	c.(1075-1077)caG>caC	p.Q359H	LIPC_ENST00000414170.3_Missense_Mutation_p.Q359H|LIPC_ENST00000299022.5_Missense_Mutation_p.Q359H|LIPC_ENST00000433326.2_Missense_Mutation_p.Q298H			P11150	LIPC_HUMAN	lipase, hepatic	359	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCAAGATCCAGTTCATCAACC	0.343																																																	0													78.0	69.0	72.0					15																	58853088		2192	4292	6484	SO:0001583	missense	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.1077G>C	15.37:g.58853088G>C	ENSP00000348425:p.Gln359His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.Q359H	ENST00000356113.6	37	c.1077	CCDS10166.1	15	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.697134	0.00725	.	.	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.79	-1.27	0.09347	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.244180	0.42964	N	0.000629	T	0.34483	0.0899	L	0.27975	0.815	0.38812	D	0.955433	B;B	0.23650	0.001;0.089	B;B	0.29942	0.006;0.109	T	0.29912	-0.9996	10	0.02654	T	1	.	0.9531	0.01380	0.3428:0.1948:0.2936:0.1687	.	298;359	E7EUK6;P11150	.;LIPC_HUMAN	H	359;359;359;298	ENSP00000348425:Q359H;ENSP00000395569:Q359H;ENSP00000299022:Q359H;ENSP00000395002:Q298H	ENSP00000299022:Q359H	Q	+	3	2	LIPC	56640380	1.000000	0.71417	0.983000	0.44433	0.102000	0.19082	0.646000	0.24797	-0.108000	0.12066	-0.981000	0.02577	CAG	LIPC	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase		0.343	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	G			58853088	+1	no_errors	ENST00000299022	ensembl	human	known	70_37	missense	SNP	0.942	C
LLGL1	3996	genome.wustl.edu	37	17	18138202	18138202	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:18138202G>A	ENST00000316843.4	+	9	1051	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	319					axonogenesis (GO:0007409)|cortical actin cytoskeleton organization (GO:0030866)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|maintenance of apical/basal cell polarity (GO:0035090)|positive regulation of Rab GTPase activity (GO:0032851)|protein complex assembly (GO:0006461)	cell projection (GO:0042995)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome membrane (GO:0031901)|Golgi cis cisterna (GO:0000137)|myelin sheath abaxonal region (GO:0035748)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)|structural molecule activity (GO:0005198)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CAGCTATGGTGACCGCCACTG	0.582																																																	0													87.0	66.0	73.0					17																	18138202		2203	4300	6503	SO:0001583	missense	3996				CCDS32586.1	17p11.2	2013-01-10	2001-11-28		ENSG00000131899	ENSG00000131899		"""WD repeat domain containing"""	6628	protein-coding gene	gene with protein product		600966	"""lethal giant larvae (Drosophila) homolog 1"""	DLG4, LLGL, HUGL, HUGL-1		7542763, 8565641	Standard	XM_005256643		Approved		uc002gsp.3	Q15334	OTTHUMG00000059396	ENST00000316843.4:c.955G>A	17.37:g.18138202G>A	ENSP00000321537:p.Asp319Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM7|O00188|Q58F11|Q86UK6	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.D319N	ENST00000316843.4	37	c.955	CCDS32586.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.331232	0.95733	.	.	ENSG00000131899	ENST00000316843	T	0.06449	3.3	5.61	4.64	0.57946	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.085103	0.85682	D	0.000000	T	0.19725	0.0474	M	0.81239	2.535	0.80722	D	1	P	0.51240	0.943	P	0.54401	0.751	T	0.00975	-1.1494	10	0.49607	T	0.09	-41.9064	13.3446	0.60564	0.0772:0.0:0.9228:0.0	.	319	Q15334	L2GL1_HUMAN	N	319	ENSP00000321537:D319N	ENSP00000321537:D319N	D	+	1	0	LLGL1	18078927	1.000000	0.71417	0.930000	0.37139	0.996000	0.88848	7.960000	0.87893	1.401000	0.46761	0.644000	0.83932	GAC	LLGL1	-	pfam_LLGL2,superfamily_WD40_repeat_dom,prints_Lethal2_giant		0.582	LLGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLGL1	HGNC	protein_coding	OTTHUMT00000132067.3	G			18138202	+1	no_errors	ENST00000316843	ensembl	human	known	70_37	missense	SNP	0.999	A
LMTK2	22853	genome.wustl.edu	37	7	97821308	97821308	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:97821308G>C	ENST00000297293.5	+	11	1824	c.1531G>C	c.(1531-1533)Gag>Cag	p.E511Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	511					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGAAGTTTTTGAGAGTTCGCT	0.577																																																	0													45.0	50.0	49.0					7																	97821308		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1531G>C	7.37:g.97821308G>C	ENSP00000297293:p.Glu511Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E511Q	ENST00000297293.5	37	c.1531	CCDS5654.1	7	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021805	0.35701	.	.	ENSG00000164715	ENST00000297293	T	0.78595	-1.19	5.87	5.87	0.94306	.	0.052727	0.85682	D	0.000000	T	0.72447	0.3461	L	0.48877	1.53	0.40066	D	0.975958	B	0.33103	0.397	B	0.34779	0.189	T	0.72117	-0.4387	10	0.46703	T	0.11	.	12.8356	0.57771	0.074:0.0:0.926:0.0	.	511	Q8IWU2	LMTK2_HUMAN	Q	511	ENSP00000297293:E511Q	ENSP00000297293:E511Q	E	+	1	0	LMTK2	97659244	1.000000	0.71417	0.996000	0.52242	0.373000	0.29922	2.768000	0.47645	2.941000	0.99782	0.655000	0.94253	GAG	LMTK2	-	NULL		0.577	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	G	NM_014916		97821308	+1	no_errors	ENST00000297293	ensembl	human	known	70_37	missense	SNP	1.000	C
LMTK3	114783	genome.wustl.edu	37	19	49013817	49013817	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:49013817G>A	ENST00000600059.1	-	2	336	c.109C>T	c.(109-111)Cct>Tct	p.P37S	LMTK3_ENST00000270238.3_Missense_Mutation_p.P66S|CTC-273B12.10_ENST00000598924.1_lincRNA			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	37					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCGTAGGGAGGAGCCAGAGGA	0.637																																																	0													40.0	55.0	50.0					19																	49013817		2064	4200	6264	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.109C>T	19.37:g.49013817G>A	ENSP00000472020:p.Pro37Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P66S	ENST00000600059.1	37	c.196		19	.	.	.	.	.	.	.	.	.	.	g	12.79	2.043435	0.36085	.	.	ENSG00000142235	ENST00000270238	T	0.76060	-0.99	3.95	3.95	0.45737	.	0.089065	0.43260	U	0.000594	T	0.54727	0.1876	N	0.10916	0.065	0.44899	D	0.997911	P	0.43094	0.799	B	0.43889	0.435	T	0.58725	-0.7586	10	0.02654	T	1	.	13.9365	0.64027	0.0:0.0:1.0:0.0	.	37	Q96Q04	LMTK3_HUMAN	S	66	ENSP00000270238:P66S	ENSP00000270238:P66S	P	-	1	0	LMTK3	53705629	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.933000	0.56545	2.223000	0.72356	0.282000	0.19409	CCT	LMTK3	-	NULL		0.637	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	G	NM_052895		49013817	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	1.000	A
LNPEP	4012	genome.wustl.edu	37	5	96350789	96350789	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:96350789C>G	ENST00000231368.5	+	13	3058	c.2366C>G	c.(2365-2367)tCa>tGa	p.S789*	LNPEP_ENST00000395770.3_Nonsense_Mutation_p.S775*	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	789					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GATCTGGCCTCAAGACTGGTG	0.428																																																	0													91.0	83.0	85.0					5																	96350789		2203	4300	6503	SO:0001587	stop_gained	4012			D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.2366C>G	5.37:g.96350789C>G	ENSP00000231368:p.Ser789*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Nonsense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S789*	ENST00000231368.5	37	c.2366	CCDS4087.1	5	.	.	.	.	.	.	.	.	.	.	C	37	6.336153	0.97485	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	.	.	.	5.55	2.55	0.30701	.	0.642251	0.16874	N	0.195964	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	5.586	0.17275	0.2078:0.5592:0.16:0.073	.	.	.	.	X	789;775	.	ENSP00000231368:S789X	S	+	2	0	LNPEP	96376545	0.485000	0.25972	1.000000	0.80357	0.034000	0.12701	0.497000	0.22514	1.345000	0.45676	-0.137000	0.14449	TCA	LNPEP	-	NULL		0.428	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNPEP	HGNC	protein_coding	OTTHUMT00000250624.1	C	NM_005575		96350789	+1	no_errors	ENST00000231368	ensembl	human	known	70_37	nonsense	SNP	0.657	G
LINC01159	102682016	genome.wustl.edu	37	2	105484677	105484677	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:105484677G>A	ENST00000433433.1	-	0	380				AC018730.3_ENST00000434764.1_RNA|AC018730.4_ENST00000454183.1_RNA|RP11-13J10.1_ENST00000598623.1_RNA																							TGGGAGAGGCGCTGCTCTGGC	0.652																																																	0																																												100128131																															2.37:g.105484677G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000433433.1	37	NULL		2																																																																																			AC018730.3	-	-		0.652	AC018730.3-001	KNOWN	basic	antisense	LOC100128131	Clone_based_vega_gene	antisense	OTTHUMT00000329325.1	G			105484677	-1	no_errors	ENST00000433433	ensembl	human	known	70_37	rna	SNP	0.000	A
ZNF667-AS1	100128252	genome.wustl.edu	37	19	57006562	57006562	+	lincRNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57006562G>C	ENST00000585445.1	+	0	1282					NR_036521.1				ZNF667 antisense RNA 1 (head to head)																		agacaaccttgatgttatcat	0.428																																																	0																																												100128252			AW955601, BC110411		19q13.43	2013-05-21			ENSG00000166770	ENSG00000166770		"""Long non-coding RNAs"""	44321	non-coding RNA	RNA, long non-coding							Standard	NR_036521		Approved				OTTHUMG00000181942		19.37:g.57006562G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000585445.1	37	NULL		19																																																																																			AC004696.2	-	-		0.428	ZNF667-AS1-001	KNOWN	basic	lincRNA	LOC100128252	Clone_based_vega_gene	lincRNA	OTTHUMT00000458401.1	G	NR_036521		57006562	+1	no_errors	ENST00000299997	ensembl	human	known	70_37	rna	SNP	0.004	C
NPIPA5	100288332	genome.wustl.edu	37	16	18470621	18470621	+	5'UTR	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:18470621A>G	ENST00000427999.2	-	0	75				RP11-1212A22.4_ENST00000546267.1_5'UTR|RP11-1212A22.4_ENST00000545114.1_5'Flank																							GAAGAGAAAGAGGATGGCCAG	0.662																																																	0																																										SO:0001623	5_prime_UTR_variant	100288332																														ENST00000427999.2:c.-336T>C	16.37:g.18470621A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000427999.2	37	NULL		16																																																																																			PKD1P1	-	-		0.662	RP11-1212A22.4-001	NOVEL	basic|appris_candidate_longest	protein_coding	LOC100288332	Uniprot_genename	protein_coding	OTTHUMT00000388918.2	A			18470621	-1	no_errors	ENST00000546267	ensembl	human	known	70_37	rna	SNP	0.618	G
LOC100507377	100507377	genome.wustl.edu	37	12	74544827	74544827	+	IGR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:74544827C>G								RP11-711C17.2 (105219 upstream) : RP11-81H3.2 (48524 downstream)																							AGCAGAAATTCAAACTGTAAA	0.373																																																	0																																										SO:0001628	intergenic_variant	100507377																															12.37:g.74544827C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		12																																																																																			RP11-81H3.2	-	-	0	0.373					LOC100507377	Clone_based_vega_gene			C			74544827	-1	no_errors	ENST00000549905	ensembl	human	known	70_37	rna	SNP	0.000	G
LINC01347	731275	genome.wustl.edu	37	1	243260889	243260889	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:243260889C>G	ENST00000417964.1	-	0	333																											AAATAACTTTCAAATTGCTGC	0.338																																																	0																																												100996554																															1.37:g.243260889C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417964.1	37	NULL		1																																																																																			RP11-261C10.3	-	-		0.338	RP11-261C10.3-006	KNOWN	basic	lincRNA	LOC100996554	Clone_based_vega_gene	lincRNA	OTTHUMT00000096168.1	C			243260889	-1	no_errors	ENST00000411733	ensembl	human	known	70_37	rna	SNP	0.094	G
AADACL2-AS1	101928142	genome.wustl.edu	37	3	151501814	151501814	+	RNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:151501814C>T	ENST00000483843.2	-	0	439				RP11-64D22.2_ENST00000483636.1_RNA|RP11-454C18.2_ENST00000475855.1_RNA																							TCATGTTCTTCAACATGTACC	0.373																																																	0																																												201651																															3.37:g.151501814C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000483843.2	37	NULL		3																																																																																			RP11-64D22.2	-	-		0.373	RP11-454C18.2-001	KNOWN	basic	antisense	LOC201651	Clone_based_vega_gene	antisense	OTTHUMT00000357888.2	C			151501814	+1	no_errors	ENST00000463420	ensembl	human	known	70_37	rna	SNP	0.291	T
LOC285556	285556	genome.wustl.edu	37	4	100573715	100573715	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:100573715C>T	ENST00000511828.1	-	1	2090	c.2091G>A	c.(2089-2091)ggG>ggA	p.G697G																								TGGCCCGGGCCCCACTGCCCT	0.607																																																	0																																										SO:0001819	synonymous_variant	285556																														ENST00000511828.1:c.2091G>A	4.37:g.100573715C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.G697	ENST00000511828.1	37	c.2091		4																																																																																			RP11-766F14.2	-	NULL		0.607	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	C			100573715	-1	no_errors	ENST00000511828	ensembl	human	putative	70_37	silent	SNP	0.432	T
SPRN	503542	genome.wustl.edu	37	10	135272652	135272652	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:135272652C>G	ENST00000541506.1	-	2	141				RP11-108K14.4_ENST00000482993.2_RNA			Q5BIV9	SPRN_HUMAN	shadow of prion protein homolog (zebrafish)						protein import into nucleus (GO:0006606)	anchored component of membrane (GO:0031225)|cytosol (GO:0005829)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	nucleic acid binding (GO:0003676)						all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCCACCAGCTCAACTGTGGCA	0.652																																																	0																																										SO:0001627	intron_variant	619207				CCDS53589.1	10q26.3	2011-02-09			ENSG00000203772	ENSG00000203772			16871	protein-coding gene	gene with protein product	"""hypothetical protein BC004409"""	610447				14527721	Standard	NM_001012508		Approved	Shadoo, Sprn, bA108K14.1, FLJ41197	uc001lnf.4	Q5BIV9	OTTHUMG00000019324	ENST00000541506.1:c.16-35451G>C	10.37:g.135272652C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L369	ENST00000541506.1	37	c.1107	CCDS53589.1	10																																																																																			RP11-108K14.4	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.652	SPRN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC619207	Clone_based_vega_gene	protein_coding	OTTHUMT00000051175.2	C	NM_001012508		135272652	+1	no_errors	ENST00000333815	ensembl	human	putative	70_37	silent	SNP	0.865	G
NPIPA2	642799	genome.wustl.edu	37	16	14859185	14859185	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:14859185C>T	ENST00000529166.1	+	8	1025	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	NPIPA2_ENST00000553201.1_Missense_Mutation_p.S323L			E9PIF3	NPIA2_HUMAN	nuclear pore complex interacting protein family, member A2	342	Pro-rich.																GCTCCACCCTCAGCGGATGAT	0.517																																																	0																																										SO:0001583	missense	642799				CCDS59263.1	16p13.11	2013-06-11			ENSG00000254852	ENSG00000254852			41979	protein-coding gene	gene with protein product							Standard	NM_001277324		Approved			E9PIF3	OTTHUMG00000166264	ENST00000529166.1:c.1025C>T	16.37:g.14859185C>T	ENSP00000432029:p.Ser342Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NPIP	p.S342L	ENST00000529166.1	37	c.1025		16	.	.	.	.	.	.	.	.	.	.	.	9.440	1.087871	0.20390	.	.	ENSG00000254852	ENST00000529166;ENST00000553201	T;T	0.58652	1.62;0.32	.	.	.	.	.	.	.	.	T	0.60170	0.2248	L	0.46157	1.445	0.09310	N	1	P	0.41569	0.755	P	0.54431	0.752	T	0.53606	-0.8415	7	0.87932	D	0	.	.	.	.	.	342	E9PJI5	.	L	342;323	ENSP00000432029:S342L;ENSP00000446882:S323L	ENSP00000432029:S342L	S	+	2	0	RP11-719K4.2	14766686	.	.	0.079000	0.20413	0.079000	0.17450	.	.	0.073000	0.16731	0.074000	0.15403	TCA	RP11-719K4.2	-	pfam_NPIP		0.517	NPIPA2-002	NOVEL	basic|appris_candidate_longest	protein_coding	LOC642799	Clone_based_vega_gene	protein_coding	OTTHUMT00000389062.1	C			14859185	+1	no_errors	ENST00000529166	ensembl	human	novel	70_37	missense	SNP	0.080	T
PDE5A	8654	genome.wustl.edu	37	4	120415655	120415655	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:120415655C>G	ENST00000354960.3	-	0	7048				PDE5A_ENST00000394439.1_3'UTR|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific						blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	TTGACCATCTCATGACTTTAT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	645513			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.*4101G>C	4.37:g.120415655C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	RNA	SNP	-	NULL	ENST00000354960.3	37	NULL	CCDS3713.1	4																																																																																			RP11-33B1.1	-	-		0.373	PDE5A-001	KNOWN	basic|CCDS	protein_coding	LOC645513	Clone_based_vega_gene	protein_coding	OTTHUMT00000256529.1	C	NM_001083		120415655	+1	no_errors	ENST00000498873	ensembl	human	known	70_37	rna	SNP	0.000	G
LINC01125	728537	genome.wustl.edu	37	2	98317652	98317652	+	RNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:98317652C>T	ENST00000451384.2	+	0	853				AC017099.3_ENST00000596740.1_RNA|AC017099.3_ENST00000598824.1_RNA|AC017099.3_ENST00000601509.1_RNA|AC017099.3_ENST00000600606.1_RNA|AC017099.3_ENST00000601580.1_RNA|AC017099.3_ENST00000458149.3_RNA|AC017099.3_ENST00000598737.1_RNA|AC017099.3_ENST00000599666.1_RNA|AC017099.3_ENST00000605331.1_RNA|AC017099.3_ENST00000599959.1_RNA|AC017099.3_ENST00000599015.1_RNA|AC017099.3_ENST00000595492.1_RNA|AC017099.3_ENST00000601499.1_RNA|AC017099.3_ENST00000600331.1_RNA|AC017099.3_ENST00000599501.1_RNA|AC017099.3_ENST00000598144.1_RNA|AC017099.3_ENST00000595588.1_RNA|AC017099.3_ENST00000603835.1_RNA|AC017099.3_ENST00000597654.1_RNA|AC017099.3_ENST00000596069.1_RNA|AC017099.3_ENST00000599435.1_RNA|AC017099.3_ENST00000445382.2_RNA	NR_038386.1																						CGGGCAGCTTCTGCACTTCCT	0.562																																																	0																																												728537																															2.37:g.98317652C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000451384.2	37	NULL		2																																																																																			AC017099.3	-	-		0.562	AC017099.3-001	KNOWN	basic|exp_conf	antisense	LOC728537	Clone_based_vega_gene	antisense	OTTHUMT00000329293.2	C			98317652	+1	no_errors	ENST00000451384	ensembl	human	known	70_37	rna	SNP	0.006	T
LONRF2	164832	genome.wustl.edu	37	2	100915746	100915746	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:100915746C>T	ENST00000393437.3	-	6	1942	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	LONRF2_ENST00000409647.1_Missense_Mutation_p.E192K	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	435							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGACTTTCTTCTGTCTCAGAG	0.438																																																	0													83.0	84.0	84.0					2																	100915746		2203	4300	6503	SO:0001583	missense	164832			AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1303G>A	2.37:g.100915746C>T	ENSP00000377086:p.Glu435Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A006|Q6ZSR4	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.E435K	ENST00000393437.3	37	c.1303	CCDS2046.2	2	.	.	.	.	.	.	.	.	.	.	C	1.837	-0.468333	0.04445	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.85629	-1.83;-2.01	3.96	2.15	0.27550	Zinc finger, RING/FYVE/PHD-type (1);	0.840675	0.10597	N	0.656107	T	0.72011	0.3408	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.53070	-0.8490	10	0.12103	T	0.63	-1.3414	7.6043	0.28093	0.0:0.7476:0.0:0.2524	.	435	Q1L5Z9	LONF2_HUMAN	K	435;192	ENSP00000377086:E435K;ENSP00000386823:E192K	ENSP00000377086:E435K	E	-	1	0	LONRF2	100282178	0.211000	0.23529	0.001000	0.08648	0.007000	0.05969	1.212000	0.32394	0.335000	0.23614	0.555000	0.69702	GAA	LONRF2	-	NULL		0.438	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF2	HGNC	protein_coding	OTTHUMT00000253161.2	C	NM_198461		100915746	-1	no_errors	ENST00000393437	ensembl	human	known	70_37	missense	SNP	0.000	T
LPHN3	23284	genome.wustl.edu	37	4	62452984	62452984	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:62452984G>C	ENST00000514591.1	+	4	424	c.95G>C	c.(94-96)aGa>aCa	p.R32T	LPHN3_ENST00000508946.1_Missense_Mutation_p.R32T|LPHN3_ENST00000507625.1_Missense_Mutation_p.R100T|LPHN3_ENST00000506700.1_Missense_Mutation_p.R32T|LPHN3_ENST00000509896.1_Missense_Mutation_p.R100T|LPHN3_ENST00000511324.1_Missense_Mutation_p.R100T|LPHN3_ENST00000504896.1_Missense_Mutation_p.R32T|LPHN3_ENST00000514996.1_Missense_Mutation_p.R32T|LPHN3_ENST00000506746.1_Missense_Mutation_p.R100T|LPHN3_ENST00000506720.1_Missense_Mutation_p.R100T|LPHN3_ENST00000508693.1_Missense_Mutation_p.R100T|LPHN3_ENST00000514157.1_Missense_Mutation_p.R32T|LPHN3_ENST00000545650.1_Missense_Mutation_p.R32T|LPHN3_ENST00000507164.1_Missense_Mutation_p.R100T|LPHN3_ENST00000512091.2_Missense_Mutation_p.R32T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	32					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTGGTCCGCAGAGAGCTATCC	0.458																																																	0													49.0	52.0	51.0					4																	62452984		1914	4121	6035	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.95G>C	4.37:g.62452984G>C	ENSP00000422533:p.Arg32Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.R100T	ENST00000514591.1	37	c.299	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806979	0.90623	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70986	-0.5;-0.49;-0.5;-0.5;-0.5;-0.49;-0.5;-0.5;-0.48;-0.5;-0.5;-0.53;-0.53;-0.53;-0.53	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.77478	0.4136	L	0.29908	0.895	0.51012	D	0.999908	P;P;D	0.55385	0.951;0.916;0.971	D;D;D	0.76071	0.971;0.928;0.987	T	0.74191	-0.3745	10	0.32370	T	0.25	.	19.0468	0.93022	0.0:0.0:1.0:0.0	.	32;100;32	E9PE04;E7EN28;Q9HAR2-2	.;.;.	T	32;32;100;100;32;32;32;32;32;100;100;100;32;32;32;100;100;32	ENSP00000423388:R32T;ENSP00000422533:R32T;ENSP00000423787:R100T;ENSP00000425033:R100T;ENSP00000424120:R32T;ENSP00000439831:R32T;ENSP00000421476:R100T;ENSP00000424030:R100T;ENSP00000421372:R100T;ENSP00000425201:R32T;ENSP00000423434:R32T;ENSP00000421627:R32T;ENSP00000420931:R100T;ENSP00000425884:R100T;ENSP00000424258:R32T	ENSP00000280009:R32T	R	+	2	0	LPHN3	62135579	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	9.608000	0.98331	2.741000	0.93983	0.650000	0.86243	AGA	LPHN3	-	NULL		0.458	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62452984	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	C
LPHN3	23284	genome.wustl.edu	37	4	62812737	62812737	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:62812737C>A	ENST00000514591.1	+	15	2650	c.2321C>A	c.(2320-2322)tCt>tAt	p.S774Y	LPHN3_ENST00000508946.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514157.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.S774Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.S842Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.S774Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	761					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAAATCATTCTGTTATTGTC	0.393																																																	0													221.0	206.0	211.0					4																	62812737		1889	4113	6002	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2321C>A	4.37:g.62812737C>A	ENSP00000422533:p.Ser774Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.S842Y	ENST00000514591.1	37	c.2525	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.7|27.7	4.855357|4.855357	0.91355|0.91355	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000502815|ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.10382	.|2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88	5.51|5.51	5.51|5.51	0.81932|0.81932	.|Domain of unknown function DUF3497 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.32645|0.32645	0.0836|0.0836	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.87578	.|0.998;0.998;0.996	T|T	0.01323|0.01323	-1.1385|-1.1385	5|10	.|0.87932	.|D	.|0	.|.	19.4278|19.4278	0.94751|0.94751	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|774;761;774	.|E9PE04;Q9HAR2;Q9HAR2-2	.|.;LPHN3_HUMAN;.	L|Y	231|774;774;842;842;774;774;761;774;842;842;842;774;774;774;842;842;774	.|ENSP00000423388:S774Y;ENSP00000422533:S774Y;ENSP00000423787:S842Y;ENSP00000425033:S842Y;ENSP00000424120:S774Y;ENSP00000439831:S774Y;ENSP00000421476:S842Y;ENSP00000424030:S842Y;ENSP00000421372:S842Y;ENSP00000425201:S774Y;ENSP00000423434:S774Y;ENSP00000421627:S774Y;ENSP00000420931:S842Y;ENSP00000425884:S842Y;ENSP00000424258:S774Y	.|ENSP00000280009:S774Y	F|S	+|+	3|2	2|0	LPHN3|LPHN3	62495332|62495332	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.818000|7.818000	0.86416|0.86416	2.595000|2.595000	0.87683|0.87683	0.557000|0.557000	0.71058|0.71058	TTC|TCT	LPHN3	-	pfam_DUF3497		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	C			62812737	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	A
LPIN2	9663	genome.wustl.edu	37	18	2928604	2928604	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:2928604C>T	ENST00000261596.4	-	11	1843	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	535					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCAAGCTCTTCTGGAATACTT	0.433																																																	0													90.0	77.0	82.0					18																	2928604		2203	4300	6503	SO:0001819	synonymous_variant	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1605G>A	18.37:g.2928604C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD25|D3DUH3	Silent	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.Q535	ENST00000261596.4	37	c.1605	CCDS11829.1	18																																																																																			LPIN2	-	NULL		0.433	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2928604	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	silent	SNP	1.000	T
LRBA	987	genome.wustl.edu	37	4	151829834	151829834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:151829834G>T	ENST00000357115.3	-	10	1580	c.1337C>A	c.(1336-1338)tCa>tAa	p.S446*	LRBA_ENST00000510413.1_Nonsense_Mutation_p.S446*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.S446*|LRBA_ENST00000535741.1_Nonsense_Mutation_p.S446*	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	446						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCATGTGGTGAATGAACAAA	0.393																																																	0													148.0	139.0	142.0					4																	151829834		2203	4300	6503	SO:0001587	stop_gained	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1337C>A	4.37:g.151829834G>T	ENSP00000349629:p.Ser446*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S446*	ENST00000357115.3	37	c.1337	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	44	10.584494	0.99432	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.	.	.	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7083	0.96083	0.0:0.0:1.0:0.0	.	.	.	.	X	446	.	ENSP00000349629:S446X	S	-	2	0	LRBA	152049284	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.809000	0.99208	2.726000	0.93360	0.563000	0.77884	TCA	LRBA	-	NULL		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151829834	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LRBA	987	genome.wustl.edu	37	4	151829838	151829838	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:151829838G>A	ENST00000357115.3	-	10	1576	c.1333C>T	c.(1333-1335)Cat>Tat	p.H445Y	LRBA_ENST00000510413.1_Missense_Mutation_p.H445Y|LRBA_ENST00000507224.1_Missense_Mutation_p.H445Y|LRBA_ENST00000535741.1_Missense_Mutation_p.H445Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	445						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGGTGAATGAACAAAAATT	0.388																																																	0													150.0	140.0	144.0					4																	151829838		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1333C>T	4.37:g.151829838G>A	ENSP00000349629:p.His445Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.H445Y	ENST00000357115.3	37	c.1333	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834639	0.91036	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.80964	0.4725	M	0.80183	2.485	0.80722	D	1	D;D;D	0.71674	0.993;0.991;0.998	D;D;D	0.80764	0.968;0.989;0.994	T	0.81315	-0.0988	10	0.49607	T	0.09	.	19.4882	0.95039	0.0:0.0:1.0:0.0	.	445;445;445	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	Y	445	ENSP00000446299:H445Y;ENSP00000421552:H445Y;ENSP00000349629:H445Y;ENSP00000422180:H445Y	ENSP00000349629:H445Y	H	-	1	0	LRBA	152049288	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.809000	0.99208	2.670000	0.90874	0.563000	0.77884	CAT	LRBA	-	NULL		0.388	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151829838	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	missense	SNP	1.000	A
LRCH1	23143	genome.wustl.edu	37	13	47243273	47243273	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:47243273C>T	ENST00000389798.3	+	3	758	c.561C>T	c.(559-561)ctC>ctT	p.L187L	LRCH1_ENST00000389797.3_Silent_p.L187L|LRCH1_ENST00000311191.6_Silent_p.L187L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	187										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TAGGTCAGCTCAAACAGTTAA	0.433																																																	0													144.0	128.0	134.0					13																	47243273		2203	4300	6503	SO:0001819	synonymous_variant	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.561C>T	13.37:g.47243273C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.L187	ENST00000389798.3	37	c.561	CCDS31972.1	13																																																																																			LRCH1	-	smart_Leu-rich_rpt_typical-subtyp		0.433	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	C	NM_015116		47243273	+1	no_errors	ENST00000389798	ensembl	human	known	70_37	silent	SNP	1.000	T
LRFN5	145581	genome.wustl.edu	37	14	42077499	42077499	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:42077499C>G	ENST00000298119.4	+	0	727				LRFN5_ENST00000554120.1_5'Flank|LRFN5_ENST00000555279.1_3'UTR	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CGCCCTGCCTCTGCCCGCTCC	0.716										HNSCC(30;0.082)																																							0																																										SO:0001623	5_prime_UTR_variant	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.-463C>G	14.37:g.42077499C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU78|Q86XL2	RNA	SNP	-	NULL	ENST00000298119.4	37	NULL	CCDS9678.1	14																																																																																			LRFN5	-	-		0.716	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	C	NM_152447		42077499	+1	no_errors	ENST00000555279	ensembl	human	known	70_37	rna	SNP	1.000	G
LRGUK	136332	genome.wustl.edu	37	7	133812377	133812377	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:133812377G>A	ENST00000285928.2	+	1	326	c.257G>A	c.(256-258)gGa>gAa	p.G86E	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	86						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGCGAGGCGGGATCCGAGGAG	0.612																																																	0													88.0	84.0	85.0					7																	133812377		2203	4300	6503	SO:0001583	missense	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.257G>A	7.37:g.133812377G>A	ENSP00000285928:p.Gly86Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.G86E	ENST00000285928.2	37	c.257	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.423409	0.00186	.	.	ENSG00000155530	ENST00000285928	T	0.31247	1.5	3.95	0.325	0.15903	.	0.253298	0.28284	N	0.015904	T	0.04724	0.0128	N	0.00138	-2.015	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42949	-0.9421	10	0.02654	T	1	-12.889	7.0898	0.25277	0.7793:0.0:0.2207:0.0	.	86	Q96M69	LRGUK_HUMAN	E	86	ENSP00000285928:G86E	ENSP00000285928:G86E	G	+	2	0	LRGUK	133462917	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.113000	0.15499	0.046000	0.15833	-1.099000	0.02127	GGA	LRGUK	-	NULL		0.612	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	G	NM_144648		133812377	+1	no_errors	ENST00000285928	ensembl	human	known	70_37	missense	SNP	0.000	A
LRP1B	53353	genome.wustl.edu	37	2	141093358	141093358	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:141093358C>T	ENST00000389484.3	-	78	12913	c.11942G>A	c.(11941-11943)gGa>gAa	p.G3981E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3981					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAAATGTTTCCAGCCACCCA	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													127.0	121.0	123.0					2																	141093358		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11942G>A	2.37:g.141093358C>T	ENSP00000374135:p.Gly3981Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,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_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G3981E	ENST00000389484.3	37	c.11942	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.366985|4.366985	0.82463|0.82463	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.93366	.|-3.21	5.28|5.28	5.28|5.28	0.74379|0.74379	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95478|0.95478	0.8531|0.8531	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.93115|0.93115	0.6520|0.6520	5|10	.|0.18276	.|T	.|0.48	.|.	19.2802|19.2802	0.94050|0.94050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|3981	.|Q9NZR2	.|LRP1B_HUMAN	K|E	213|3981;3919	.|ENSP00000374135:G3981E	.|ENSP00000374135:G3981E	E|G	-|-	1|2	0|0	LRP1B|LRP1B	140809828|140809828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.356000|7.356000	0.79445|0.79445	2.622000|2.622000	0.88805|0.88805	0.650000|0.650000	0.86243|0.86243	GAA|GGA	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141093358	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	T
LRP2	4036	genome.wustl.edu	37	2	170022556	170022556	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:170022556G>A	ENST00000263816.3	-	62	11929	c.11644C>T	c.(11644-11646)Ccc>Tcc	p.P3882S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3882	LDL-receptor class A 35. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GAATTACAGGGAACATCCACT	0.408																																																	0													137.0	127.0	131.0					2																	170022556		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11644C>T	2.37:g.170022556G>A	ENSP00000263816:p.Pro3882Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P3882S	ENST00000263816.3	37	c.11644	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614945	0.14129	.	.	ENSG00000081479	ENST00000263816	D	0.95554	-3.74	6.06	-1.71	0.08133	.	0.810358	0.11796	N	0.528651	D	0.83110	0.5183	N	0.03967	-0.31	0.32764	N	0.504712	B	0.18310	0.027	B	0.19666	0.026	T	0.73745	-0.3886	10	0.08837	T	0.75	.	5.015	0.14331	0.1179:0.4362:0.2669:0.179	.	3882	P98164	LRP2_HUMAN	S	3882	ENSP00000263816:P3882S	ENSP00000263816:P3882S	P	-	1	0	LRP2	169730802	0.898000	0.30612	0.004000	0.12327	0.392000	0.30506	0.059000	0.14322	-0.668000	0.05296	0.650000	0.86243	CCC	LRP2	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.408	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170022556	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	0.506	A
LRP2	4036	genome.wustl.edu	37	2	170029697	170029697	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:170029697G>A	ENST00000263816.3	-	57	11337	c.11052C>T	c.(11050-11052)ttC>ttT	p.F3684F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3684	LDL-receptor class A 30. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTTTGCAGCTGAATTCTGTGA	0.493																																																	0													105.0	100.0	102.0					2																	170029697		2203	4300	6503	SO:0001819	synonymous_variant	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11052C>T	2.37:g.170029697G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00711|Q16215	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.F3684	ENST00000263816.3	37	c.11052	CCDS2232.1	2																																																																																			LRP2	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170029697	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	silent	SNP	1.000	A
LRRC29	26231	genome.wustl.edu	37	16	67242232	67242232	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:67242232C>T	ENST00000409037.1	-	2	1164	c.268G>A	c.(268-270)Gat>Aat	p.D90N	LRRC29_ENST00000341546.3_Missense_Mutation_p.D90N|LRRC29_ENST00000393992.1_Missense_Mutation_p.D90N|LRRC29_ENST00000462169.1_5'Flank|LRRC29_ENST00000409509.1_Missense_Mutation_p.D90N			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	90										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAACTGGCATCAGTCAGCTTG	0.627																																																	0													90.0	100.0	97.0					16																	67242232		2198	4300	6498	SO:0001583	missense	26231			AF176701	CCDS32465.1	16q22.1	2008-02-05	2004-08-23	2004-08-26	ENSG00000125122	ENSG00000125122			13605	protein-coding gene	gene with protein product			"""F-box and leucine-rich repeat protein 9"""	FBXL9		10531037	Standard	NM_012163		Approved	FBL9	uc002esf.3	Q8WV35	OTTHUMG00000154403	ENST00000409037.1:c.268G>A	16.37:g.67242232C>T	ENSP00000387318:p.Asp90Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE92|Q9UKA0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp	p.D90N	ENST00000409037.1	37	c.268	CCDS32465.1	16	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771062	0.69992	.	.	ENSG00000125122	ENST00000409509;ENST00000393992;ENST00000409037;ENST00000341546;ENST00000424285	T;T;T;T;T	0.11063	2.81;2.81;2.81;2.81;2.81	5.39	4.43	0.53597	.	0.170325	0.52532	D	0.000077	T	0.16428	0.0395	M	0.83118	2.625	0.35797	D	0.822876	P	0.47106	0.89	B	0.41332	0.354	T	0.18147	-1.0346	10	0.62326	D	0.03	.	9.1001	0.36662	0.0:0.9024:0.0:0.0976	.	90	Q8WV35	LRC29_HUMAN	N	90	ENSP00000386622:D90N;ENSP00000377561:D90N;ENSP00000387318:D90N;ENSP00000344364:D90N;ENSP00000409459:D90N	ENSP00000344364:D90N	D	-	1	0	LRRC29	65799733	0.997000	0.39634	0.997000	0.53966	0.992000	0.81027	3.615000	0.54167	2.525000	0.85131	0.650000	0.86243	GAT	LRRC29	-	smart_Leu-rich_rpt_Cys-con_subtyp		0.627	LRRC29-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC29	HGNC	protein_coding	OTTHUMT00000335073.1	C	NM_012163		67242232	-1	no_errors	ENST00000341546	ensembl	human	known	70_37	missense	SNP	0.998	T
LRRC37A	9884	genome.wustl.edu	37	17	44380067	44380067	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:44380067C>T	ENST00000320254.5	+	3	2748	c.2745C>T	c.(2743-2745)ctC>ctT	p.L915L	LRRC37A_ENST00000496930.1_5'UTR|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000393465.3_Silent_p.L915L	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	915						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TGCTATCCCTCCAGTATTTgt	0.289																																																	0													1.0	1.0	1.0					17																	44380067		609	593	1202	SO:0001819	synonymous_variant	9884			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.2745C>T	17.37:g.44380067C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DY2|Q8IWC7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L915	ENST00000320254.5	37	c.2745	CCDS11504.2	17																																																																																			LRRC37A	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.289	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	C	NM_014834		44380067	+1	no_errors	ENST00000320254	ensembl	human	known	70_37	silent	SNP	0.715	T
LRRC42	115353	genome.wustl.edu	37	1	54428065	54428065	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:54428065G>A	ENST00000371370.3	+	7	1431	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LRRC42_ENST00000319223.4_Missense_Mutation_p.E304K|LRRC42_ENST00000477905.1_3'UTR	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	304								p.E304Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGCAAGACAGAGGGCTGGGC	0.443																																																	1	Substitution - Missense(1)	lung(1)											95.0	94.0	95.0					1																	54428065		2203	4300	6503	SO:0001583	missense	115353			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.910G>A	1.37:g.54428065G>A	ENSP00000360421:p.Glu304Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ46|Q8N2Q8	Missense_Mutation	SNP	NULL	p.E304K	ENST00000371370.3	37	c.910	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463111	0.84425	.	.	ENSG00000116212	ENST00000371370;ENST00000319223	.	.	.	6.08	6.08	0.98989	.	0.144593	0.64402	D	0.000009	T	0.48021	0.1477	L	0.27053	0.805	0.49389	D	0.999789	D	0.58620	0.983	P	0.47206	0.541	T	0.46247	-0.9205	9	0.51188	T	0.08	-28.0489	16.0688	0.80909	0.0:0.1332:0.8668:0.0	.	304	Q9Y546	LRC42_HUMAN	K	304	.	ENSP00000318185:E304K	E	+	1	0	LRRC42	54200653	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.693000	0.74582	2.894000	0.99253	0.655000	0.94253	GAG	LRRC42	-	NULL		0.443	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	G	NM_052940		54428065	+1	no_errors	ENST00000319223	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC40	55631	genome.wustl.edu	37	1	70652990	70652990	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:70652990G>A	ENST00000370952.3	-	3	444	c.365C>T	c.(364-366)tCt>tTt	p.S122F		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	122						membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TCTTATAGCAGAAGGAAGGGA	0.269																																																	0													71.0	77.0	75.0					1																	70652990		2201	4294	6495	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.365C>T	1.37:g.70652990G>A	ENSP00000359990:p.Ser122Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S122F	ENST00000370952.3	37	c.365	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	G	17.43	3.388920	0.61956	.	.	ENSG00000066557	ENST00000370952	T	0.30448	1.53	5.83	4.9	0.64082	.	0.529195	0.22061	N	0.065174	T	0.10380	0.0254	N	0.11756	0.17	0.34433	D	0.698772	P	0.47034	0.889	B	0.42916	0.402	T	0.03717	-1.1010	10	0.56958	D	0.05	.	10.044	0.42175	0.0831:0.2352:0.6818:0.0	.	122	Q9H9A6	LRC40_HUMAN	F	122	ENSP00000359990:S122F	ENSP00000359990:S122F	S	-	2	0	LRRC40	70425578	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.958000	0.40402	2.741000	0.93983	0.655000	0.94253	TCT	LRRC40	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.269	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	G	NM_017768		70652990	-1	no_errors	ENST00000370952	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC8A	56262	genome.wustl.edu	37	9	131670871	131670871	+	Silent	SNP	C	C	G	rs139819304	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:131670871C>G	ENST00000259324.5	+	3	1951	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	LRRC8A_ENST00000372600.4_Silent_p.L476L|LRRC8A_ENST00000372599.3_Silent_p.L476L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	476					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCTGTGGCTCTACCACACAG	0.632																																																	0													19.0	19.0	19.0					9																	131670871		2194	4290	6484	SO:0001819	synonymous_variant	56262			AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.1428C>G	9.37:g.131670871C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXM2|Q8NCI0|Q9P2B1	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L476	ENST00000259324.5	37	c.1428	CCDS35155.1	9																																																																																			LRRC8A	-	NULL		0.632	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8A	HGNC	protein_coding	OTTHUMT00000054516.2	C	NM_019594		131670871	+1	no_errors	ENST00000259324	ensembl	human	known	70_37	silent	SNP	1.000	G
LRRK1	79705	genome.wustl.edu	37	15	101589932	101589932	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:101589932C>G	ENST00000388948.3	+	23	3742	c.3383C>G	c.(3382-3384)tCa>tGa	p.S1128*	LRRK1_ENST00000284395.5_Nonsense_Mutation_p.S1125*|RP11-505E24.2_ENST00000559857.1_RNA|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGGACTTCTCAGCCATGGCT	0.453																																																	0													92.0	96.0	95.0					15																	101589932		1922	4130	6052	SO:0001587	stop_gained	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3383C>G	15.37:g.101589932C>G	ENSP00000373600:p.Ser1128*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S1128*	ENST00000388948.3	37	c.3383	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	45	12.028583	0.99629	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	19.677	0.95939	0.0:1.0:0.0:0.0	.	.	.	.	X	1128;1125	.	ENSP00000284395:S1125X	S	+	2	0	LRRK1	99407455	1.000000	0.71417	0.959000	0.39883	0.515000	0.34225	7.604000	0.82830	2.655000	0.90218	0.462000	0.41574	TCA	LRRK1	-	NULL		0.453	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	C	NM_024652		101589932	+1	no_errors	ENST00000388948	ensembl	human	known	70_37	nonsense	SNP	1.000	G
LRRK2	120892	genome.wustl.edu	37	12	40758834	40758834	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:40758834A>G	ENST00000298910.7	+	49	7430	c.7372A>G	c.(7372-7374)Atg>Gtg	p.M2458V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2458					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTCAGAGTCATGATGACAGC	0.348																																																	0													79.0	74.0	76.0					12																	40758834		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7372A>G	12.37:g.40758834A>G	ENSP00000298910:p.Met2458Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.M2458V	ENST00000298910.7	37	c.7372	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	A	13.49	2.252718	0.39797	.	.	ENSG00000188906	ENST00000298910	T	0.30714	1.52	5.29	4.1	0.47936	WD40 repeat-like-containing domain (1);	0.074410	0.85682	D	0.000000	T	0.29620	0.0739	L	0.54323	1.7	0.40372	D	0.979351	B;B	0.31318	0.319;0.319	B;B	0.29785	0.107;0.107	T	0.26538	-1.0100	10	0.66056	D	0.02	.	12.3914	0.55360	0.8599:0.1401:0.0:0.0	.	2458;2458	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	2458	ENSP00000298910:M2458V	ENSP00000298910:M2458V	M	+	1	0	LRRK2	39045101	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.872000	0.63050	1.996000	0.58369	0.477000	0.44152	ATG	LRRK2	-	superfamily_WD40_repeat_dom		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	A	XM_058513		40758834	+1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRN2	10446	genome.wustl.edu	37	1	204588748	204588748	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:204588748C>G	ENST00000367175.1	-	1	2585	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	LRRN2_ENST00000367177.3_Missense_Mutation_p.E125Q|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.E125Q			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	125					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E125Q(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGTTCTCCTCTAGGTGCAGG	0.602																																																	1	Substitution - Missense(1)	lung(1)											102.0	105.0	104.0					1																	204588748		2203	4300	6503	SO:0001583	missense	10446			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.373G>C	1.37:g.204588748C>G	ENSP00000356143:p.Glu125Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E125Q	ENST00000367175.1	37	c.373	CCDS1448.1	1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909486	0.72868	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.24723	1.84;1.84;1.84	5.39	5.39	0.77823	.	0.328198	0.21599	N	0.071967	T	0.37019	0.0988	N	0.12920	0.275	0.51233	D	0.999916	D	0.89917	1.0	D	0.97110	1.0	T	0.37502	-0.9703	10	0.54805	T	0.06	.	18.8335	0.92151	0.0:1.0:0.0:0.0	.	125	O75325	LRRN2_HUMAN	Q	125	ENSP00000356144:E125Q;ENSP00000356145:E125Q;ENSP00000356143:E125Q	ENSP00000356143:E125Q	E	-	1	0	LRRN2	202855371	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.816000	0.86201	2.543000	0.85770	0.650000	0.86243	GAG	LRRN2	-	smart_Leu-rich_rpt_typical-subtyp		0.602	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	HGNC	protein_coding	OTTHUMT00000089894.1	C	NM_006338		204588748	-1	no_errors	ENST00000367175	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRN4	164312	genome.wustl.edu	37	20	6031429	6031429	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:6031429G>A	ENST00000378858.4	-	3	1080	c.856C>T	c.(856-858)Cag>Tag	p.Q286*		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	286					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.Q286K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						ACTTACTTCTGGAACAGAAGG	0.453																																																	1	Substitution - Missense(1)	endometrium(1)											152.0	150.0	151.0					20																	6031429		2203	4300	6503	SO:0001587	stop_gained	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.856C>T	20.37:g.6031429G>A	ENSP00000368135:p.Gln286*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K258|Q5JWV6|Q9H419	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q286*	ENST00000378858.4	37	c.856	CCDS13097.1	20	.	.	.	.	.	.	.	.	.	.	G	38	6.825218	0.97865	.	.	ENSG00000125872	ENST00000378858	.	.	.	5.68	5.68	0.88126	.	0.191164	0.36034	N	0.002838	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.1996	0.73126	0.0:0.2582:0.7418:0.0	.	.	.	.	X	286	.	ENSP00000368135:Q286X	Q	-	1	0	LRRN4	5979429	1.000000	0.71417	0.972000	0.41901	0.765000	0.43378	3.301000	0.51842	2.690000	0.91761	0.491000	0.48974	CAG	LRRN4	-	smart_Leu-rich_rpt_typical-subtyp		0.453	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	G	NM_152611		6031429	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	nonsense	SNP	0.963	A
LSP1	4046	genome.wustl.edu	37	11	1887970	1887970	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:1887970C>G	ENST00000311604.3	+	2	228				LSP1_ENST00000381775.1_Nonsense_Mutation_p.S89*|AC051649.12_ENST00000509204.1_RNA|LSP1_ENST00000405957.2_5'Flank	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1						cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCCTGGGGTCAATCCCCCAG	0.637																																																	0																																										SO:0001627	intron_variant	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.54-13347C>G	11.37:g.1887970C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Nonsense_Mutation	SNP	pfam_Caldesmon_LSP,prints_Lymphspecific	p.S89*	ENST00000311604.3	37	c.266	CCDS31334.1	11	.	.	.	.	.	.	.	.	.	.	c	13.39	2.222065	0.39300	.	.	ENSG00000130592	ENST00000381775	.	.	.	2.15	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.6186	0.12438	0.0:0.8067:0.0:0.1933	.	.	.	.	X	89	.	ENSP00000371194:S89X	S	+	2	0	LSP1	1844546	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.902000	0.28459	0.451000	0.26802	0.491000	0.48974	TCA	LSP1	-	NULL		0.637	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	LSP1	HGNC	protein_coding	OTTHUMT00000034045.3	C	NM_002339		1887970	+1	no_errors	ENST00000381775	ensembl	human	putative	70_37	nonsense	SNP	0.001	G
LTA	4049	genome.wustl.edu	37	6	31540806	31540806	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31540806C>T	ENST00000454783.1	+	3	459	c.201C>T	c.(199-201)ctC>ctT	p.L67L	TNF_ENST00000449264.2_5'Flank|LTA_ENST00000418386.2_Silent_p.L67L	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	67					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CTGCTCACCTCATTGGTAAAC	0.607																																																	0													125.0	80.0	96.0					6																	31540806		1511	2709	4220	SO:0001819	synonymous_variant	4049			X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.201C>T	6.37:g.31540806C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4C3|Q9UKS8	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_beta,prints_TNF_a/b/c	p.L67	ENST00000454783.1	37	c.201	CCDS4701.1	6																																																																																			LTA	-	superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c		0.607	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA	HGNC	protein_coding	OTTHUMT00000259097.1	C			31540806	+1	no_errors	ENST00000418386	ensembl	human	known	70_37	silent	SNP	0.970	T
LTBR	4055	genome.wustl.edu	37	12	6497463	6497463	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:6497463C>G	ENST00000228918.4	+	7	993				LTBR_ENST00000543190.1_Intron|LTBR_ENST00000539925.1_Intron|LTBR_ENST00000541102.1_Intron	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GCTCCCTTTTCTCTGTCTGGG	0.522																																																	0																																										SO:0001627	intron_variant	4055			L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.668-101C>G	12.37:g.6497463C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1D2|D3DUR2|F5GXE7	RNA	SNP	-	NULL	ENST00000228918.4	37	NULL	CCDS8544.1	12																																																																																			LTBR	-	-		0.522	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBR	HGNC	protein_coding	OTTHUMT00000399422.1	C			6497463	+1	no_errors	ENST00000541005	ensembl	human	known	70_37	rna	SNP	0.013	G
LTN1	26046	genome.wustl.edu	37	21	30316810	30316810	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:30316810G>C	ENST00000361371.5	-	22	3956	c.3877C>G	c.(3877-3879)Ctg>Gtg	p.L1293V	LTN1_ENST00000389194.2_Missense_Mutation_p.L1339V			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1293					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATGGTATCCAGAGTTGTGGAA	0.408																																																	0													77.0	72.0	74.0					21																	30316810		2203	4300	6503	SO:0001583	missense	26046			AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.3877C>G	21.37:g.30316810G>C	ENSP00000354977:p.Leu1293Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING	p.L1293V	ENST00000361371.5	37	c.3877		21	.	.	.	.	.	.	.	.	.	.	G	1.638	-0.517304	0.04171	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.17054	2.3;2.3	4.26	2.35	0.29111	.	0.851649	0.10257	N	0.696484	T	0.09069	0.0224	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.36601	-0.9741	10	0.26408	T	0.33	.	9.8861	0.41262	0.0:0.2848:0.5681:0.1471	.	1293	O94822	LTN1_HUMAN	V	1339;1293	ENSP00000373846:L1339V;ENSP00000354977:L1293V	ENSP00000354977:L1293V	L	-	1	2	LTN1	29238681	0.922000	0.31269	0.032000	0.17829	0.646000	0.38490	1.501000	0.35693	0.683000	0.31428	0.585000	0.79938	CTG	LTN1	-	NULL		0.408	LTN1-008	NOVEL	basic|appris_principal	protein_coding	LTN1	HGNC	protein_coding	OTTHUMT00000472108.1	G	NM_015565		30316810	-1	no_errors	ENST00000361371	ensembl	human	known	70_37	missense	SNP	0.067	C
LUZP1	7798	genome.wustl.edu	37	1	23418235	23418235	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:23418235G>A	ENST00000302291.4	-	4	3321	c.2520C>T	c.(2518-2520)tcC>tcT	p.S840S	LUZP1_ENST00000418342.1_Silent_p.S840S|LUZP1_ENST00000374623.3_Silent_p.S840S|LUZP1_ENST00000314174.5_Silent_p.S840S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	840					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCAAAAGGGGAGCTGACAT	0.567																																																	0													90.0	86.0	87.0					1																	23418235		2203	4300	6503	SO:0001819	synonymous_variant	7798			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2520C>T	1.37:g.23418235G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TH93|Q8N4X3|Q8TEH1	Silent	SNP	NULL	p.S840	ENST00000302291.4	37	c.2520	CCDS30628.1	1																																																																																			LUZP1	-	NULL		0.567	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP1	HGNC	protein_coding	OTTHUMT00000008900.3	G	NM_033631		23418235	-1	no_errors	ENST00000302291	ensembl	human	known	70_37	silent	SNP	0.019	A
LY6G6F	259215	genome.wustl.edu	37	6	31675808	31675808	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:31675808C>T	ENST00000375832.4	+	3	565	c.543C>T	c.(541-543)ctC>ctT	p.L181L	LY6G6F_ENST00000556581.1_Silent_p.L181L|MEGT1_ENST00000503322.1_Silent_p.L181L|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTGCCCTGCTCTTGGTGTGTC	0.612																																																	0													110.0	118.0	115.0					6																	31675808		1511	2709	4220	SO:0001819	synonymous_variant	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.543C>T	6.37:g.31675808C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L181	ENST00000375832.4	37	c.543	CCDS34403.1	6																																																																																			LY6G6F	-	NULL		0.612	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6F	HGNC	protein_coding	OTTHUMT00000076532.2	C	NM_001003693		31675808	+1	no_errors	ENST00000556581	ensembl	human	known	70_37	silent	SNP	1.000	T
LY6K	54742	genome.wustl.edu	37	8	143783124	143783124	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:143783124G>A	ENST00000292430.6	+	2	627	c.210G>A	c.(208-210)gcG>gcA	p.A70A	LY6K_ENST00000519387.1_Silent_p.A70A|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000518841.1_Silent_p.A70A|LY6K_ENST00000561179.1_Silent_p.A128A|LY6K_ENST00000522591.1_Silent_p.A70A			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	70	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCGTTATAGCGGCCGTGAGTG	0.493																																																	0													119.0	112.0	115.0					8																	143783124		2203	4300	6503	SO:0001819	synonymous_variant	54742			AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.210G>A	8.37:g.143783124G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V116|O15227|Q9BVD7	Silent	SNP	NULL	p.A128	ENST00000292430.6	37	c.384	CCDS6385.2	8	.	.	.	.	.	.	.	.	.	.	G	3.460	-0.110191	0.06924	.	.	ENSG00000160886	ENST00000522591	.	.	.	2.07	-2.31	0.06765	.	.	.	.	.	T	0.21347	0.0514	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.28267	-1.0049	4	.	.	.	.	4.0405	0.09750	0.0:0.1601:0.4875:0.3525	.	.	.	.	Q	89	.	.	R	+	2	0	LY6K	143780126	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.879000	0.04188	-0.558000	0.06118	-0.518000	0.04402	CGG	LY6K	-	NULL		0.493	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LY6K	HGNC	protein_coding	OTTHUMT00000379893.2	G	NM_017527		143783124	+1	no_errors	ENST00000561179	ensembl	human	known	70_37	silent	SNP	0.000	A
LY75	4065	genome.wustl.edu	37	2	160755557	160755557	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:160755557G>A	ENST00000263636.4	-	2	135	c.108C>T	c.(106-108)ttC>ttT	p.F36F	LY75-CD302_ENST00000505052.1_Silent_p.F36F|LY75_ENST00000553424.1_Silent_p.F36F|LY75-CD302_ENST00000504764.1_Silent_p.F36F|LY75_ENST00000554112.1_Silent_p.F36F	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	36	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GGACGATGGTGAAGGGGTCAT	0.498																																																	0													156.0	150.0	152.0					2																	160755557		2203	4300	6503	SO:0001819	synonymous_variant	4065			AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.108C>T	2.37:g.160755557G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Silent	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin	p.F36	ENST00000263636.4	37	c.108	CCDS2211.1	2																																																																																			LY75	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.498	LY75-001	KNOWN	basic|CCDS	protein_coding	LY75	HGNC	protein_coding	OTTHUMT00000255035.1	G			160755557	-1	no_errors	ENST00000554112	ensembl	human	known	70_37	silent	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39853296	39853296	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:39853296G>C	ENST00000372915.3	+	57	14884	c.14797G>C	c.(14797-14799)Gag>Cag	p.E4933Q	MACF1_ENST00000361689.2_Missense_Mutation_p.E2866Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3368Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2866Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4965Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E2845Q|MACF1_ENST00000564288.1_Missense_Mutation_p.E4928Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2866Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4933					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGATGTCTGAGTTGCGAGT	0.478																																																	0													62.0	60.0	61.0					1																	39853296		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14797G>C	1.37:g.39853296G>C	ENSP00000362006:p.Glu4933Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E2866Q	ENST00000372915.3	37	c.8596		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.50|18.50	3.638484|3.638484	0.67130|0.67130	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.51325|.	0.71;0.71;0.71;0.71;0.71;0.71|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.269982|.	0.32015|.	N|.	0.006705|.	T|.	0.75317|.	0.3833|.	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;P;P|.	0.51057|.	0.262;0.941;0.916|.	B;P;P|.	0.55871|.	0.379;0.786;0.642|.	T|.	0.69978|.	-0.4998|.	10|.	0.31617|.	T|.	0.26|.	.|.	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	4933;2866;2810|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	Q|S	2866;4933;2866;2866;2845;3368|1978	ENSP00000439537:E2866Q;ENSP00000362006:E4933Q;ENSP00000354573:E2866Q;ENSP00000313438:E2866Q;ENSP00000444364:E2845Q;ENSP00000289893:E3368Q|.	ENSP00000289893:E3368Q|.	E|X	+|+	1|2	0|2	MACF1|MACF1	39625883|39625883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.912000|7.912000	0.87465|0.87465	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAG|TGA	MACF1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.478	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39853296	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	missense	SNP	1.000	C
LY9	4063	genome.wustl.edu	37	1	160766081	160766081	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:160766081C>G	ENST00000263285.6	+	1	134	c.104C>G	c.(103-105)tCt>tGt	p.S35C	LY9_ENST00000368041.2_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.S35C|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.S35C|LY9_ENST00000392203.4_Missense_Mutation_p.S35C|LY9_ENST00000368037.5_Missense_Mutation_p.S35C|LY9_ENST00000368040.1_5'UTR			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	35					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTACAGACCTCTCTCCTCTTC	0.517																																																	0													185.0	199.0	195.0					1																	160766081		2203	4300	6503	SO:0001583	missense	4063			L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.104C>G	1.37:g.160766081C>G	ENSP00000263285:p.Ser35Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S35C	ENST00000263285.6	37	c.104	CCDS30916.1	1	.	.	.	.	.	.	.	.	.	.	C	7.618	0.676180	0.14841	.	.	ENSG00000122224	ENST00000368041;ENST00000341032;ENST00000263285;ENST00000542780;ENST00000368039	T;T;T	0.35973	1.41;1.28;1.4	3.14	1.26	0.21427	.	1.664210	0.04449	U	0.372252	T	0.13970	0.0338	L	0.50333	1.59	0.21652	N	0.999608	B;B;B;B;B	0.12630	0.003;0.006;0.005;0.003;0.006	B;B;B;B;B	0.08055	0.001;0.003;0.002;0.001;0.003	T	0.25293	-1.0136	10	0.45353	T	0.12	1.1475	5.3186	0.15870	0.0:0.7293:0.0:0.2707	.	35;35;35;35;35	B4E0J5;E7EME5;Q9HBG7-2;Q9HBG7;Q6P2J4	.;.;.;LY9_HUMAN;.	C	35	ENSP00000342921:S35C;ENSP00000263285:S35C;ENSP00000357018:S35C	ENSP00000263285:S35C	S	+	2	0	LY9	159032705	0.033000	0.19621	0.038000	0.18304	0.481000	0.33189	-0.034000	0.12225	0.342000	0.23796	-0.259000	0.10710	TCT	LY9	-	NULL		0.517	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LY9	HGNC	protein_coding	OTTHUMT00000060457.3	C	NM_002348		160766081	+1	no_errors	ENST00000263285	ensembl	human	known	70_37	missense	SNP	0.055	G
MADD	8567	genome.wustl.edu	37	11	47317492	47317492	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:47317492G>C	ENST00000311027.5	+	24	3810	c.3645G>C	c.(3643-3645)ttG>ttC	p.L1215F	MADD_ENST00000402192.2_Missense_Mutation_p.L1176F|MADD_ENST00000407859.3_Missense_Mutation_p.L1154F|MADD_ENST00000349238.3_Missense_Mutation_p.L1197F|MADD_ENST00000395336.3_Missense_Mutation_p.L1215F|MADD_ENST00000395344.3_Missense_Mutation_p.L1130F|MADD_ENST00000402799.1_Missense_Mutation_p.L1134F|MADD_ENST00000406482.1_Missense_Mutation_p.L1134F|MADD_ENST00000342922.4_Missense_Mutation_p.L1177F|MADD_ENST00000405573.2_Missense_Mutation_p.L25F	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACAGTGACTTGAGCAGCAATG	0.527																																																	0													128.0	130.0	129.0					11																	47317492		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3645G>C	11.37:g.47317492G>C	ENSP00000310933:p.Leu1215Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.L1215F	ENST00000311027.5	37	c.3645	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	17.91	3.505257	0.64410	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.53640	3.08;2.89;2.89;3.08;3.18;2.88;3.07;3.17;3.22;0.61	5.74	2.76	0.32466	.	0.000000	0.64402	D	0.000001	T	0.51295	0.1666	L	0.32530	0.975	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.997;0.999;0.999;0.999;0.999;0.999;0.999;0.998;0.999	T	0.45396	-0.9264	10	0.48119	T	0.1	-11.4388	6.1409	0.20259	0.0665:0.2549:0.5462:0.1324	.	25;1130;1130;1215;1134;1134;1134;1197;1154;1215;1177	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	F	1177;1134;1134;1134;1197;1215;1154;1130;1215;1176;25	ENSP00000343902:L1177F;ENSP00000385585:L1134F;ENSP00000384435:L1134F;ENSP00000304505:L1197F;ENSP00000310933:L1215F;ENSP00000384204:L1154F;ENSP00000378753:L1130F;ENSP00000378745:L1215F;ENSP00000384287:L1176F;ENSP00000384483:L25F	ENSP00000310933:L1215F	L	+	3	2	MADD	47274068	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.098000	0.50259	0.310000	0.22990	-0.176000	0.13171	TTG	MADD	-	NULL		0.527	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47317492	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	C
MADD	8567	genome.wustl.edu	37	11	47333367	47333367	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:47333367G>C	ENST00000311027.5	+	29	4408	c.4243G>C	c.(4243-4245)Gag>Cag	p.E1415Q	MADD_ENST00000407859.3_Missense_Mutation_p.E1333Q|MADD_ENST00000349238.3_Missense_Mutation_p.E1376Q|MADD_ENST00000402192.2_Missense_Mutation_p.E1355Q|MADD_ENST00000395336.3_Missense_Mutation_p.E1415Q|MADD_ENST00000395344.3_Missense_Mutation_p.E1309Q|MADD_ENST00000402799.1_Missense_Mutation_p.E1313Q|MADD_ENST00000406482.1_Missense_Mutation_p.E1313Q|MADD_ENST00000405573.2_Missense_Mutation_p.E225Q|MADD_ENST00000342922.4_Missense_Mutation_p.E1356Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCAAATCAATGAGGTGCTTGA	0.502																																																	0													99.0	86.0	90.0					11																	47333367		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4243G>C	11.37:g.47333367G>C	ENSP00000310933:p.Glu1415Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E1415Q	ENST00000311027.5	37	c.4243	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115485	0.77323	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.46819	3.49;3.37;3.38;3.5;3.46;3.37;3.37;3.46;3.5;0.86	5.14	5.14	0.70334	.	0.194017	0.45361	D	0.000368	T	0.43255	0.1239	N	0.11064	0.09	0.80722	D	1	P;P;P;P;P;P;P;P;P;P;P	0.48640	0.913;0.611;0.469;0.871;0.604;0.604;0.73;0.64;0.765;0.658;0.64	P;B;B;P;P;P;B;P;P;P;P	0.52386	0.614;0.354;0.354;0.697;0.557;0.557;0.433;0.697;0.635;0.501;0.635	T	0.41538	-0.9503	10	0.31617	T	0.26	-17.905	18.6155	0.91302	0.0:0.0:1.0:0.0	.	225;1309;1309;1415;1313;1313;1313;1376;1333;1415;1356	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	1356;1313;1313;1313;1376;1415;1333;1309;1415;1355;225	ENSP00000343902:E1356Q;ENSP00000385585:E1313Q;ENSP00000384435:E1313Q;ENSP00000304505:E1376Q;ENSP00000310933:E1415Q;ENSP00000384204:E1333Q;ENSP00000378753:E1309Q;ENSP00000378745:E1415Q;ENSP00000384287:E1355Q;ENSP00000384483:E225Q	ENSP00000310933:E1415Q	E	+	1	0	MADD	47289943	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	7.488000	0.81441	2.378000	0.81104	0.563000	0.77884	GAG	MADD	-	NULL		0.502	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	G			47333367	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	C
MAEL	84944	genome.wustl.edu	37	1	166959038	166959038	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:166959038G>A	ENST00000367872.4	+	2	441	c.197G>A	c.(196-198)gGa>gAa	p.G66E	MAEL_ENST00000367870.2_Intron	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	66					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCCGCTCAGGGAAAGGACCCT	0.507																																																	0													28.0	34.0	32.0					1																	166959038		2203	4300	6503	SO:0001583	missense	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.197G>A	1.37:g.166959038G>A	ENSP00000356846:p.Gly66Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain	p.G66E	ENST00000367872.4	37	c.197	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.378516	0.61735	.	.	ENSG00000143194	ENST00000367872	T	0.12984	2.63	5.18	5.18	0.71444	Domain of unknown function DUF1898 (1);	0.249150	0.28409	N	0.015448	T	0.06962	0.0177	N	0.14661	0.345	0.80722	D	1	D	0.57571	0.98	P	0.52957	0.714	T	0.22941	-1.0202	10	0.39692	T	0.17	.	9.762	0.40537	0.0942:0.0:0.9058:0.0	.	66	Q96JY0	MAEL_HUMAN	E	66	ENSP00000356846:G66E	ENSP00000356846:G66E	G	+	2	0	MAEL	165225662	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	2.178000	0.42519	2.418000	0.82041	0.467000	0.42956	GGA	MAEL	-	pfam_HMG_superfamily		0.507	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	HGNC	protein_coding	OTTHUMT00000083239.1	G	NM_032858		166959038	+1	no_errors	ENST00000367872	ensembl	human	known	70_37	missense	SNP	1.000	A
MAF1	84232	genome.wustl.edu	37	8	145160643	145160643	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145160643G>A	ENST00000322428.5	+	2	461	c.57G>A	c.(55-57)gaG>gaA	p.E19E	SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000534585.1_Silent_p.E19E|KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Silent_p.E19E	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	19					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACTGTGGAGACTGGAGATG	0.582																																																	0													80.0	74.0	76.0					8																	145160643		2203	4300	6503	SO:0001819	synonymous_variant	84232				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.57G>A	8.37:g.145160643G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWL4	Silent	SNP	pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1	p.E19	ENST00000322428.5	37	c.57	CCDS6416.1	8																																																																																			MAF1	-	pirsf_RNA_pol_III_tscrpt_repres_MAF1		0.582	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	G	NM_032272		145160643	+1	no_errors	ENST00000322428	ensembl	human	known	70_37	silent	SNP	1.000	A
MAF1	84232	genome.wustl.edu	37	8	145160803	145160803	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145160803G>A	ENST00000322428.5	+	3	519	c.115G>A	c.(115-117)Gac>Aac	p.D39N	SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000534585.1_Missense_Mutation_p.D39N|KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|MAF1_ENST00000532522.1_Missense_Mutation_p.D39N	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	39					negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATGGCAGGAGACGACAAACA	0.567																																																	0													92.0	88.0	89.0					8																	145160803		2203	4300	6503	SO:0001583	missense	84232				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.115G>A	8.37:g.145160803G>A	ENSP00000318604:p.Asp39Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWL4	Missense_Mutation	SNP	pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1	p.D39N	ENST00000322428.5	37	c.115	CCDS6416.1	8	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572042	0.45798	.	.	ENSG00000179632	ENST00000322428;ENST00000534585;ENST00000532522;ENST00000527572;ENST00000527058	T;T;T	0.42513	0.97;1.01;0.97	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.22282	0.0537	N	0.04043	-0.29	0.58432	D	0.99999	B	0.15930	0.015	B	0.17979	0.02	T	0.12528	-1.0544	10	0.13853	T	0.58	-28.4147	15.0028	0.71486	0.0:0.0:1.0:0.0	.	39	Q9H063	MAF1_HUMAN	N	39	ENSP00000318604:D39N;ENSP00000433979:D39N;ENSP00000436720:D39N	ENSP00000318604:D39N	D	+	1	0	MAF1	145232791	1.000000	0.71417	0.123000	0.21794	0.943000	0.58893	6.940000	0.75917	2.624000	0.88883	0.462000	0.41574	GAC	MAF1	-	pfam_Maf1,pirsf_RNA_pol_III_tscrpt_repres_MAF1		0.567	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	G	NM_032272		145160803	+1	no_errors	ENST00000322428	ensembl	human	known	70_37	missense	SNP	0.914	A
MAGEB16	139604	genome.wustl.edu	37	X	35821128	35821128	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:35821128G>A	ENST00000399989.1	+	2	1094	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	MAGEB16_ENST00000399992.1_Missense_Mutation_p.R304Q|MAGEB16_ENST00000399985.1_Missense_Mutation_p.R272Q|MAGEB16_ENST00000399987.1_Missense_Mutation_p.R272Q|MAGEB16_ENST00000399988.1_Missense_Mutation_p.R272Q	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	272	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GATCCTGCACGATATGAATTC	0.483																																																	0													38.0	38.0	38.0					X																	35821128		2198	4300	6498	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.815G>A	X.37:g.35821128G>A	ENSP00000382871:p.Arg272Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU30	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R304Q	ENST00000399989.1	37	c.911	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	G	3.235	-0.156567	0.06544	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	3.13	-1.59	0.08453	.	0.391845	0.25596	N	0.029598	T	0.03348	0.0097	L	0.33485	1.01	0.09310	N	1	B	0.25272	0.122	B	0.23275	0.045	T	0.40136	-0.9579	10	0.30854	T	0.27	.	7.0052	0.24831	0.4389:0.0:0.5611:0.0	.	272	A2A368	MAGBG_HUMAN	Q	272;304;272;272;272	ENSP00000382870:R272Q;ENSP00000382874:R304Q;ENSP00000382869:R272Q;ENSP00000382871:R272Q;ENSP00000382867:R272Q	ENSP00000382867:R272Q	R	+	2	0	MAGEB16	35731049	0.000000	0.05858	0.000000	0.03702	0.386000	0.30323	0.027000	0.13621	-0.475000	0.06852	-0.367000	0.07326	CGA	MAGEB16	-	pfam_MAGE,pfscan_MAGE		0.483	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	G			35821128	+1	no_errors	ENST00000399992	ensembl	human	known	70_37	missense	SNP	0.000	A
MAGED1	9500	genome.wustl.edu	37	X	51640996	51640996	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:51640996G>C	ENST00000375722.1	+	7	1910				MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375695.2_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGATGGGAAAGAAGGTGGAAC	0.483										Multiple Myeloma(10;0.10)																																							0													39.0	37.0	38.0					X																	51640996		2201	4300	6501	SO:0001627	intron_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1658+14G>C	X.37:g.51640996G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	RNA	SNP	-	NULL	ENST00000375722.1	37	NULL	CCDS14337.1	X																																																																																			MAGED1	-	-		0.483	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	G	NM_001005332		51640996	+1	no_errors	ENST00000485420	ensembl	human	known	70_37	rna	SNP	0.813	C
MAGIX	79917	genome.wustl.edu	37	X	49022575	49022575	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:49022575C>T	ENST00000412696.2	+	6	842	c.842C>T	c.(841-843)aCg>aTg	p.T281M	MAGIX_ENST00000425661.2_Missense_Mutation_p.T205M|MAGIX_ENST00000376339.1_Missense_Mutation_p.T217M|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376338.3_Missense_Mutation_p.T222M	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	281																	GATGGCCCCACGGTTTCTCCT	0.697																																																	0													9.0	12.0	11.0					X																	49022575		1818	4037	5855	SO:0001583	missense	79917			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.842C>T	X.37:g.49022575C>T	ENSP00000387928:p.Thr281Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T281M	ENST00000412696.2	37	c.842	CCDS48106.1	X	.	.	.	.	.	.	.	.	.	.	.	13.91	2.377085	0.42105	.	.	ENSG00000017621	ENST00000376339;ENST00000425661;ENST00000412696;ENST00000376338	T;T;T;T	0.24538	1.94;2.2;1.96;1.85	3.65	-5.48	0.02592	.	1.498050	0.04785	N	0.430535	T	0.11879	0.0289	N	0.08118	0	0.09310	N	1	D;P;D;D	0.58620	0.981;0.798;0.983;0.983	B;B;P;P	0.45449	0.255;0.197;0.481;0.481	T	0.09058	-1.0692	10	0.56958	D	0.05	-0.4045	0.7275	0.00951	0.2749:0.1663:0.1352:0.4236	.	205;281;217;222	F8WCY7;Q9H6Y5;Q9H6Y5-3;Q9H6Y5-2	.;MAGIX_HUMAN;.;.	M	217;205;281;222	ENSP00000365517:T217M;ENSP00000403515:T205M;ENSP00000387928:T281M;ENSP00000365516:T222M	ENSP00000365516:T222M	T	+	2	0	MAGIX	48909519	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.427000	0.00474	-1.475000	0.01876	-1.170000	0.01741	ACG	MAGIX	-	NULL		0.697	MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGIX	HGNC	protein_coding	OTTHUMT00000378832.1	C	NM_024859		49022575	+1	no_errors	ENST00000412696	ensembl	human	known	70_37	missense	SNP	0.000	T
MAGEE1	57692	genome.wustl.edu	37	X	75649466	75649466	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:75649466G>A	ENST00000361470.2	+	1	1421	c.1143G>A	c.(1141-1143)ccG>ccA	p.P381P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	381	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCCGCCCACTCCTG	0.672																																																	0													43.0	29.0	34.0					X																	75649466		2203	4299	6502	SO:0001819	synonymous_variant	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1143G>A	X.37:g.75649466G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.P381	ENST00000361470.2	37	c.1143	CCDS14433.1	X																																																																																			MAGEE1	-	NULL		0.672	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649466	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	silent	SNP	0.001	A
MAGOH	4116	genome.wustl.edu	37	1	53694605	53694605	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:53694605C>T	ENST00000371470.3	-	4	441	c.280G>A	c.(280-282)Gat>Aat	p.D94N	MAGOH_ENST00000371466.4_Missense_Mutation_p.D57N	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	94					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ATGTGTTCATCTCCAATGACG	0.338																																					Colon(150;521 2416 7674 18129)												0													119.0	109.0	112.0					1																	53694605		2203	4300	6503	SO:0001583	missense	4116			AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.280G>A	1.37:g.53694605C>T	ENSP00000360525:p.Asp94Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	pfam_Mago_nashi,superfamily_Mago_nashi	p.D94N	ENST00000371470.3	37	c.280	CCDS577.1	1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.554369	0.27739	.	.	ENSG00000162385	ENST00000371470;ENST00000371466	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.37433	0.1003	N	0.11673	0.155	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.002;0.003	T	0.37220	-0.9715	9	0.02654	T	1	-13.6421	19.3291	0.94278	0.0:1.0:0.0:0.0	.	57;94	B1ARP8;P61326	.;MGN_HUMAN	N	94;57	.	ENSP00000360521:D57N	D	-	1	0	MAGOH	53467193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.358000	0.79466	2.582000	0.87167	0.655000	0.94253	GAT	MAGOH	-	pfam_Mago_nashi,superfamily_Mago_nashi		0.338	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGOH	HGNC	protein_coding	OTTHUMT00000024730.1	C	NM_002370		53694605	-1	no_errors	ENST00000371470	ensembl	human	known	70_37	missense	SNP	1.000	T
MAK	4117	genome.wustl.edu	37	6	10763241	10763241	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:10763241C>G	ENST00000313243.2	-	0	3698				MAK_ENST00000474039.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000354489.2_3'UTR|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ACATAAAAATCTCAGCAGTTG	0.303																																																	0																																										SO:0001624	3_prime_UTR_variant	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.*1444G>C	6.37:g.10763241C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	F1T0K6|G1FL29|Q547D0|Q9NUH7	RNA	SNP	-	NULL	ENST00000313243.2	37	NULL	CCDS4516.1	6																																																																																			MAK	-	-		0.303	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK	HGNC	protein_coding	OTTHUMT00000039841.1	C	NM_005906		10763241	-1	no_errors	ENST00000474039	ensembl	human	known	70_37	rna	SNP	0.015	G
MAN1A1	4121	genome.wustl.edu	37	6	119525929	119525929	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:119525929C>T	ENST00000368468.3	-	7	1552	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	371					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CTCACCTTTTCAGCAAAGATG	0.443																																					Ovarian(136;8 1825 12608 33541 47587)												0													130.0	123.0	125.0					6																	119525929		2203	4300	6503	SO:0001583	missense	4121			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1111G>A	6.37:g.119525929C>T	ENSP00000357453:p.Glu371Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.E371K	ENST00000368468.3	37	c.1111	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816267	0.50527	.	.	ENSG00000111885	ENST00000368468	T	0.71817	-0.6	5.37	5.37	0.77165	.	0.156838	0.56097	D	0.000026	T	0.50086	0.1595	L	0.33710	1.025	0.80722	D	1	B	0.11235	0.004	B	0.20384	0.029	T	0.46414	-0.9193	10	0.25751	T	0.34	-20.1876	19.1079	0.93303	0.0:1.0:0.0:0.0	.	371	P33908	MA1A1_HUMAN	K	371	ENSP00000357453:E371K	ENSP00000357453:E371K	E	-	1	0	MAN1A1	119567628	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.918000	0.63376	2.502000	0.84385	0.591000	0.81541	GAA	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.443	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	C	NM_005907		119525929	-1	no_errors	ENST00000368468	ensembl	human	known	70_37	missense	SNP	0.998	T
MAN2B1	4125	genome.wustl.edu	37	19	12758139	12758139	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:12758139G>C	ENST00000456935.2	-	23	2871	c.2831C>G	c.(2830-2832)tCc>tGc	p.S944C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S943C|CTD-2192J16.22_ENST00000597692.1_Silent_p.L130L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	944					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGTGAAGGTGGAGAACAGGTC	0.617																																																	0													73.0	68.0	69.0					19																	12758139		2203	4300	6503	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2831C>G	19.37:g.12758139G>C	ENSP00000395473:p.Ser944Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.S944C	ENST00000456935.2	37	c.2831	CCDS32919.1	19	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811726	0.70797	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80033	-1.33;-1.33	5.21	4.15	0.48705	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.792162	0.10821	N	0.630493	D	0.89483	0.6728	M	0.85197	2.74	0.44643	D	0.997624	D;D	0.71674	0.995;0.998	P;D	0.65443	0.893;0.935	D	0.87066	0.2156	10	0.66056	D	0.02	-33.5323	10.6045	0.45386	0.0:0.0:0.8004:0.1996	.	943;944	G5E928;O00754	.;MA2B1_HUMAN	C	944;883;943	ENSP00000395473:S944C;ENSP00000221363:S943C	ENSP00000221363:S943C	S	-	2	0	MAN2B1	12619139	0.998000	0.40836	0.988000	0.46212	0.957000	0.61999	3.198000	0.51035	1.367000	0.46095	0.561000	0.74099	TCC	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	G			12758139	-1	no_errors	ENST00000456935	ensembl	human	known	70_37	missense	SNP	0.998	C
MAN2B1	4125	genome.wustl.edu	37	19	12766654	12766654	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:12766654G>A	ENST00000456935.2	-	14	1724	c.1684C>T	c.(1684-1686)Ccg>Tcg	p.P562S	MAN2B1_ENST00000495617.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.P561S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	562					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCAGCTCCGGAGGGTGCGCC	0.597																																																	0													48.0	51.0	50.0					19																	12766654		2203	4300	6503	SO:0001583	missense	4125				CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1684C>T	19.37:g.12766654G>A	ENSP00000395473:p.Pro562Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.P562S	ENST00000456935.2	37	c.1684	CCDS32919.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.961|4.961	0.178422|0.178422	0.09443|0.09443	.|.	.|.	ENSG00000104774|ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363|ENST00000433513	T;T|.	0.78246|.	-1.16;-1.16|.	3.92|3.92	2.53|2.53	0.30540|0.30540	Glycosyl hydrolases 38, C-terminal (1);Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.15609|0.15609	0.0376|0.0376	N|N	0.05078|0.05078	-0.115|-0.115	0.09310|0.09310	N|N	1|1	B;B|.	0.19583|.	0.037;0.021|.	B;B|.	0.17722|.	0.008;0.019|.	T|T	0.26608|0.26608	-1.0098|-1.0098	9|5	0.23302|.	T|.	0.38|.	-2.4711|-2.4711	5.6389|5.6389	0.17552|0.17552	0.2259:0.0:0.7741:0.0|0.2259:0.0:0.7741:0.0	.|.	561;562|.	G5E928;O00754|.	.;MA2B1_HUMAN|.	S|F	562;501;561|97	ENSP00000395473:P562S;ENSP00000221363:P561S|.	ENSP00000221363:P561S|.	P|S	-|-	1|2	0|0	MAN2B1|MAN2B1	12627654|12627654	0.025000|0.025000	0.19082|0.19082	0.051000|0.051000	0.19133|0.19133	0.886000|0.886000	0.51366|0.51366	0.707000|0.707000	0.25704|0.25704	0.305000|0.305000	0.22832|0.22832	0.313000|0.313000	0.20887|0.20887	CCG|TCC	MAN2B1	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.597	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAN2B1	HGNC	protein_coding	OTTHUMT00000344062.1	G			12766654	-1	no_errors	ENST00000456935	ensembl	human	known	70_37	missense	SNP	0.012	A
MAN2B2	23324	genome.wustl.edu	37	4	6611729	6611729	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:6611729G>C	ENST00000285599.3	+	13	2247	c.2211G>C	c.(2209-2211)caG>caC	p.Q737H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q686H|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	737					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ACGGCTACCAGATGCAGCGGA	0.592																																																	0													92.0	86.0	88.0					4																	6611729		2203	4300	6503	SO:0001583	missense	23324			BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.2211G>C	4.37:g.6611729G>C	ENSP00000285599:p.Gln737His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q66MP2|Q86T67	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.Q737H	ENST00000285599.3	37	c.2211	CCDS33951.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.60|18.60	3.659697|3.659697	0.67586|0.67586	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	D;D|.	0.85702|.	-2.02;-2.02|.	3.98|3.98	3.98|3.98	0.46160|0.46160	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77170|0.77170	0.4091|0.4091	M|M	0.82630|0.82630	2.6|2.6	0.50313|0.50313	D|D	0.999863|0.999863	D;D;P|.	0.76494|.	0.999;0.998;0.581|.	D;D;P|.	0.74348|.	0.977;0.983;0.543|.	T|T	0.80430|0.80430	-0.1386|-0.1386	10|5	0.72032|.	D|.	0.01|.	-28.9082|-28.9082	15.4022|15.4022	0.74849|0.74849	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	686;737;737|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	H|T	737;686|736	ENSP00000285599:Q737H;ENSP00000423129:Q686H|.	ENSP00000285599:Q737H|.	Q|R	+|+	3|2	2|0	MAN2B2|MAN2B2	6662630|6662630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.401000|3.401000	0.52601|0.52601	1.930000|1.930000	0.55929|0.55929	0.558000|0.558000	0.71614|0.71614	CAG|AGA	MAN2B2	-	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd		0.592	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2B2	HGNC	protein_coding	OTTHUMT00000359106.2	G	NM_015274		6611729	+1	no_errors	ENST00000285599	ensembl	human	known	70_37	missense	SNP	1.000	C
MAOB	4129	genome.wustl.edu	37	X	43698186	43698186	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:43698186C>G	ENST00000378069.4	-	3	354	c.207G>C	c.(205-207)ttG>ttC	p.L69F	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.L53F|MAOB_ENST00000538942.1_Missense_Mutation_p.L53F	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	69					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TGGCTAATCTCAAGATACGAT	0.403																																																	0													135.0	115.0	122.0					X																	43698186		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.207G>C	X.37:g.43698186C>G	ENSP00000367309:p.Leu69Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.L69F	ENST00000378069.4	37	c.207	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826619	0.32329	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.93859	-3.3;-3.3;-3.3	5.13	2.48	0.30137	Amine oxidase (1);	0.000000	0.64402	D	0.000001	D	0.94159	0.8126	M	0.79343	2.45	0.54753	D	0.999989	D;P;P	0.58268	0.982;0.879;0.928	P;P;P	0.59012	0.85;0.792;0.766	D	0.90927	0.4787	10	0.20046	T	0.44	-6.9103	7.3672	0.26781	0.0:0.3682:0.0:0.6317	.	53;69;69	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	F	69;53;53	ENSP00000367309:L69F;ENSP00000441613:L53F;ENSP00000442240:L53F	ENSP00000367309:L69F	L	-	3	2	MAOB	43583130	0.993000	0.37304	0.996000	0.52242	0.572000	0.35998	0.285000	0.18883	0.709000	0.31976	-0.503000	0.04515	TTG	MAOB	-	pfam_Amino_oxidase		0.403	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	C	NM_000898		43698186	-1	no_errors	ENST00000378069	ensembl	human	known	70_37	missense	SNP	0.995	G
MAP1B	4131	genome.wustl.edu	37	5	71411577	71411577	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:71411577C>G	ENST00000296755.7	+	2	535	c.237C>G	c.(235-237)ctC>ctG	p.L79L	MAP1B_ENST00000504183.1_3'UTR	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	79					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACCAAGAACTCAAACTTTTTG	0.463																																					Melanoma(17;367 822 11631 31730 47712)												0													151.0	137.0	141.0					5																	71411577		2203	4300	6503	SO:0001819	synonymous_variant	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.237C>G	5.37:g.71411577C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.L79	ENST00000296755.7	37	c.237	CCDS4012.1	5																																																																																			MAP1B	-	NULL		0.463	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71411577	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	silent	SNP	1.000	G
MAP4K5	11183	genome.wustl.edu	37	14	50892637	50892637	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:50892637G>C	ENST00000013125.4	-	30	2703	c.2385C>G	c.(2383-2385)ttC>ttG	p.F795L		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	795	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					CATCTGACTTGAAGCTTTTAC	0.403																																																	0													90.0	86.0	87.0					14																	50892637		1919	4145	6064	SO:0001583	missense	11183			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.2385C>G	14.37:g.50892637G>C	ENSP00000013125:p.Phe795Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYF6	Missense_Mutation	SNP	pfam_Citron,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,smart_Citron,pfscan_Prot_kinase_cat_dom	p.F795L	ENST00000013125.4	37	c.2385		14	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254353	0.22965	.	.	ENSG00000012983	ENST00000013125	T	0.03689	3.84	5.55	5.55	0.83447	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.08358	0.0208	L	0.35249	1.045	0.80722	D	1	B;D	0.63046	0.065;0.992	B;D	0.76071	0.105;0.987	T	0.22836	-1.0205	10	0.02654	T	1	.	13.7644	0.62986	0.0735:0.0:0.9265:0.0	.	795;795	B2R928;Q9Y4K4	.;M4K5_HUMAN	L	795	ENSP00000013125:F795L	ENSP00000013125:F795L	F	-	3	2	MAP4K5	49962387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.739000	0.55075	2.616000	0.88540	0.561000	0.74099	TTC	MAP4K5	-	pfam_Citron,smart_Citron		0.403	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	G	NM_006575		50892637	-1	no_errors	ENST00000013125	ensembl	human	known	70_37	missense	SNP	1.000	C
MAPK1IP1L	93487	genome.wustl.edu	37	14	55518385	55518385	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:55518385G>C	ENST00000395468.4	+	0	37				MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like											endometrium(2)|large_intestine(1)|lung(3)	6						CCGGCGCCAGGAGGAGCCGCG	0.756																																																	0													17.0	18.0	18.0					14																	55518385		873	1990	2863	SO:0001623	5_prime_UTR_variant	93487			AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.-141G>C	14.37:g.55518385G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDD8|Q96BG5	RNA	SNP	-	NULL	ENST00000395468.4	37	NULL	CCDS32085.1	14																																																																																			MAPK1IP1L	-	-		0.756	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK1IP1L	HGNC	protein_coding	OTTHUMT00000411302.2	G	NM_144578		55518385	+1	no_errors	ENST00000554364	ensembl	human	putative	70_37	rna	SNP	1.000	C
MARCH6	10299	genome.wustl.edu	37	5	10377945	10377945	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:10377945G>C	ENST00000274140.5	+	2	187	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	MARCH6_ENST00000449913.2_Missense_Mutation_p.E19Q|MARCH6_ENST00000503788.1_Intron	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	19					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E19K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGGAACACCTGAGAAACCGCT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											166.0	144.0	151.0					5																	10377945		2203	4300	6503	SO:0001583	missense	10299			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.55G>C	5.37:g.10377945G>C	ENSP00000274140:p.Glu19Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E19Q	ENST00000274140.5	37	c.55	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129662	0.77549	.	.	ENSG00000145495	ENST00000449913;ENST00000274140	T;T	0.31769	1.48;1.48	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-CH-type (2);	0.053345	0.64402	D	0.000001	T	0.30135	0.0755	L	0.28694	0.88	0.80722	D	1	P;B	0.36354	0.549;0.021	B;B	0.38985	0.287;0.096	T	0.08229	-1.0732	10	0.59425	D	0.04	-22.6137	19.0512	0.93046	0.0:0.0:1.0:0.0	.	19;19	B4DT33;O60337	.;MARH6_HUMAN	Q	19	ENSP00000414643:E19Q;ENSP00000274140:E19Q	ENSP00000274140:E19Q	E	+	1	0	MARCH6	10430945	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.450000	0.97607	2.649000	0.89929	0.591000	0.81541	GAG	MARCH6	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH		0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	G	NM_005885		10377945	+1	no_errors	ENST00000274140	ensembl	human	known	70_37	missense	SNP	1.000	C
MARK1	4139	genome.wustl.edu	37	1	220804457	220804457	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:220804457C>T	ENST00000366917.4	+	10	1256	c.990C>T	c.(988-990)ttC>ttT	p.F330F	MARK1_ENST00000402574.1_Silent_p.F195F|MARK1_ENST00000366918.4_Silent_p.F308F					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATCCGGATTTCAATGACACAA	0.363																																																	0													99.0	95.0	97.0					1																	220804457		2203	4300	6503	SO:0001819	synonymous_variant	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.990C>T	1.37:g.220804457C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F330	ENST00000366917.4	37	c.990	CCDS31029.2	1																																																																																			MARK1	-	pfscan_UBA/transl_elong_EF1B_N_euk		0.363	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	C			220804457	+1	no_errors	ENST00000366917	ensembl	human	known	70_37	silent	SNP	1.000	T
MATN3	4148	genome.wustl.edu	37	2	20205975	20205975	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20205975G>C	ENST00000407540.3	-	2	382	c.320C>G	c.(319-321)tCc>tGc	p.S107C	MATN3_ENST00000421259.2_Missense_Mutation_p.S107C|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	107	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATTATCCGGGAGACAAAAGT	0.522																																																	0													43.0	44.0	44.0					2																	20205975		1935	4129	6064	SO:0001583	missense	4148			AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.320C>G	2.37:g.20205975G>C	ENSP00000383894:p.Ser107Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CPU0|Q4ZG02	Missense_Mutation	SNP	pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A	p.S107C	ENST00000407540.3	37	c.320	CCDS46226.1	2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203770	0.58234	.	.	ENSG00000132031	ENST00000407540;ENST00000421259	D;D	0.84589	-1.87;-1.87	5.93	5.93	0.95920	von Willebrand factor, type A (3);	0.056076	0.64402	D	0.000001	D	0.93697	0.7986	M	0.89601	3.045	0.29772	N	0.834697	D;D	0.71674	0.998;0.994	D;P	0.70016	0.967;0.907	D	0.90248	0.4291	10	0.38643	T	0.18	-29.5804	19.3421	0.94347	0.0:0.0:1.0:0.0	.	107;107	B2CPU0;O15232	.;MATN3_HUMAN	C	107	ENSP00000383894:S107C;ENSP00000398753:S107C	ENSP00000383894:S107C	S	-	2	0	MATN3	20069456	0.150000	0.22732	0.958000	0.39756	0.836000	0.47400	2.763000	0.47605	2.826000	0.97356	0.655000	0.94253	TCC	MATN3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.522	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MATN3	HGNC	protein_coding	OTTHUMT00000323925.1	G	NM_002381		20205975	-1	no_errors	ENST00000407540	ensembl	human	known	70_37	missense	SNP	0.498	C
MB21D1	115004	genome.wustl.edu	37	6	74135179	74135179	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:74135179G>A	ENST00000370315.3	-	5	1434	c.1340C>T	c.(1339-1341)aCc>aTc	p.T447I	MB21D1_ENST00000370318.1_Intron	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	447					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						AGGGTTCTGGGTACATACGTG	0.408																																																	0													78.0	72.0	74.0					6																	74135179		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1340C>T	6.37:g.74135179G>A	ENSP00000359339:p.Thr447Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	pfam_Mab-21_dom	p.T447I	ENST00000370315.3	37	c.1340	CCDS4978.1	6	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298411	0.23650	.	.	ENSG00000164430	ENST00000370315;ENST00000296913	T	0.08634	3.07	5.8	4.04	0.47022	.	0.550327	0.17225	N	0.182174	T	0.03263	0.0095	M	0.68317	2.08	0.09310	N	1	B	0.31153	0.31	B	0.32465	0.146	T	0.42716	-0.9435	10	0.19147	T	0.46	-2.9136	7.2786	0.26297	0.3074:0.0:0.6926:0.0	.	447	Q8N884	M21D1_HUMAN	I	447;430	ENSP00000359339:T447I	ENSP00000296913:T430I	T	-	2	0	MB21D1	74191900	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.606000	0.24194	0.811000	0.34303	-0.157000	0.13467	ACC	MB21D1	-	pfam_Mab-21_dom		0.408	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	G	NM_138441		74135179	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	missense	SNP	0.018	A
MB21D1	115004	genome.wustl.edu	37	6	74161536	74161536	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:74161536C>T	ENST00000370315.3	-	1	463	c.369G>A	c.(367-369)caG>caA	p.Q123Q	MB21D1_ENST00000370318.1_Silent_p.Q123Q	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	123					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						GCGCGCCCCTCTGGCGGCAAG	0.741																																																	0													2.0	3.0	3.0					6																	74161536		1658	3422	5080	SO:0001819	synonymous_variant	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.369G>A	6.37:g.74161536C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Silent	SNP	pfam_Mab-21_dom	p.Q123	ENST00000370315.3	37	c.369	CCDS4978.1	6																																																																																			MB21D1	-	NULL		0.741	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D1	HGNC	protein_coding	OTTHUMT00000041221.5	C	NM_138441		74161536	-1	no_errors	ENST00000370315	ensembl	human	known	70_37	silent	SNP	0.000	T
MCF2L	23263	genome.wustl.edu	37	13	113742717	113742717	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:113742717G>C	ENST00000375608.3	+	25	2913	c.2855G>C	c.(2854-2856)aGa>aCa	p.R952T	MCF2L_ENST00000421756.1_Missense_Mutation_p.R926T|MCF2L_ENST00000375601.3_Missense_Mutation_p.R926T|MCF2L_ENST00000375597.4_Missense_Mutation_p.R920T|MCF2L_ENST00000375604.2_Missense_Mutation_p.R979T|MCF2L_ENST00000442652.2_Missense_Mutation_p.R952T|MCF2L_ENST00000535094.2_Missense_Mutation_p.R922T|MCF2L_ENST00000397030.1_Missense_Mutation_p.R955T|MCF2L_ENST00000434480.2_Missense_Mutation_p.R928T|MCF2L_ENST00000423482.2_Missense_Mutation_p.R920T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	952					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGGCTTGTAGAGGTGAGGCT	0.542																																																	0													96.0	94.0	95.0					13																	113742717		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2855G>C	13.37:g.113742717G>C	ENSP00000364758:p.Arg952Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R979T	ENST00000375608.3	37	c.2936		13	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	15.61|15.61|15.61	2.885493|2.885493|2.885493	0.51908|0.51908|0.51908	.|.|.	.|.|.	ENSG00000126217|ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017;ENST00000453297;ENST00000439475	.|T;T;T;T;T;T;T;T;T;T|.	.|0.17213|.	.|2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29;2.29|.	4.14|4.14|4.14	4.14|4.14|4.14	0.48551|0.48551|0.48551	.|Pleckstrin homology-type (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|.	0.74764|0.74764|.	0.3759|0.3759|.	M|M|M	0.76002|0.76002|0.76002	2.32|2.32|2.32	0.58432|0.58432|0.58432	D|D|D	0.999998|0.999998|0.999998	.|D;D;D;D;D|.	.|0.76494|.	.|0.999;0.999;0.999;0.999;0.999|.	.|D;D;D;D;D|.	.|0.73708|.	.|0.981;0.981;0.971;0.929;0.957|.	T|T|.	0.76860|0.76860|.	-0.2803|-0.2803|.	5|10|.	.|0.62326|.	.|D|.	.|0.03|.	.|.|.	16.4358|16.4358|16.4358	0.83874|0.83874|0.83874	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|920;922;979;920;952|.	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068|.	.|.;.;.;.;MCF2L_HUMAN|.	Q|T|Y	152;93|952;952;979;955;922;926;926;928;920;920;763|582;76;27	.|ENSP00000364758:R952T;ENSP00000401422:R952T;ENSP00000364754:R979T;ENSP00000380225:R955T;ENSP00000440374:R922T;ENSP00000397285:R926T;ENSP00000364751:R926T;ENSP00000407722:R928T;ENSP00000405639:R920T;ENSP00000364747:R920T|.	.|ENSP00000364747:R920T|.	E|R|X	+|+|+	1|2|3	0|0|2	MCF2L|MCF2L|MCF2L	112790718|112790718|112790718	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.653000|0.653000|0.653000	0.29593|0.29593|0.29593	0.042000|0.042000|0.042000	0.13812|0.13812|0.13812	8.666000|8.666000|8.666000	0.91149|0.91149|0.91149	1.863000|1.863000|1.863000	0.54032|0.54032|0.54032	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|AGA|TAG	MCF2L	-	NULL		0.542	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113742717	+1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	0.998	C
MCOLN2	255231	genome.wustl.edu	37	1	85462586	85462586	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:85462586C>T	ENST00000370608.3	-	0	37				MCOLN2_ENST00000531325.1_5'UTR|MCOLN2_ENST00000284027.5_Intron|WDR63_ENST00000370596.1_5'Flank	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCAGGGCTCTCGGGATTCGGA	0.577																																																	0													46.0	48.0	48.0					1																	85462586		2203	4300	6503	SO:0001623	5_prime_UTR_variant	255231			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.-31G>A	1.37:g.85462586C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	RNA	SNP	-	NULL	ENST00000370608.3	37	NULL	CCDS30762.1	1																																																																																			MCOLN2	-	-		0.577	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	C	NM_153259		85462586	-1	no_errors	ENST00000531325	ensembl	human	known	70_37	rna	SNP	0.005	T
MDC1	9656	genome.wustl.edu	37	6	30681692	30681692	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:30681692G>C	ENST00000376406.3	-	3	1052	c.405C>G	c.(403-405)gtC>gtG	p.V135V	MDC1_ENST00000494654.1_5'Flank|MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V135V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	135	Interaction with CHEK2.|Interaction with the MRN complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						AGGGCAGAGAGACATCCAGGC	0.562								Other conserved DNA damage response genes																																									0													70.0	76.0	74.0					6																	30681692		1511	2709	4220	SO:0001819	synonymous_variant	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.405C>G	6.37:g.30681692G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom	p.V135	ENST00000376406.3	37	c.405	CCDS34384.1	6																																																																																			MDC1	-	superfamily_SMAD_FHA_domain		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDC1	HGNC	protein_coding	OTTHUMT00000076103.1	G	NM_014641		30681692	-1	no_errors	ENST00000376406	ensembl	human	known	70_37	silent	SNP	0.000	C
MDM1	56890	genome.wustl.edu	37	12	68716864	68716864	+	Missense_Mutation	SNP	G	G	A	rs200011845		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:68716864G>A	ENST00000303145.7	-	5	876	c.790C>T	c.(790-792)Cct>Tct	p.P264S	MDM1_ENST00000545724.1_5'Flank|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000411698.2_Missense_Mutation_p.P219S	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	264					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCTTTCAGGAGACACTGTT	0.333																																																	0													147.0	142.0	144.0					12																	68716864		2202	4300	6502	SO:0001583	missense	56890			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.790C>T	12.37:g.68716864G>A	ENSP00000302537:p.Pro264Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Missense_Mutation	SNP	NULL	p.P264S	ENST00000303145.7	37	c.790	CCDS8983.1	12	.	.	.	.	.	.	.	.	.	.	G	9.864	1.197132	0.22037	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686	T;T;T	0.20738	2.05;2.05;2.05	4.48	2.62	0.31277	.	0.424990	0.21756	N	0.069591	T	0.17959	0.0431	L	0.59436	1.845	0.80722	D	1	P;B	0.36990	0.577;0.314	B;B	0.34652	0.187;0.068	T	0.03221	-1.1059	9	.	.	.	-8.7462	7.2723	0.26264	0.276:0.0:0.724:0.0	.	219;264	E7EPQ3;Q8TC05	.;MDM1_HUMAN	S	264;219;259	ENSP00000302537:P264S;ENSP00000391006:P219S;ENSP00000446000:P259S	.	P	-	1	0	MDM1	67003131	1.000000	0.71417	0.983000	0.44433	0.216000	0.24613	1.503000	0.35715	1.200000	0.43188	0.591000	0.81541	CCT	MDM1	-	NULL		0.333	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM1	HGNC	protein_coding	OTTHUMT00000402402.1	G	NM_020128		68716864	-1	no_errors	ENST00000303145	ensembl	human	known	70_37	missense	SNP	0.993	A
MDN1	23195	genome.wustl.edu	37	6	90424429	90424429	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:90424429C>T	ENST00000369393.3	-	46	7017	c.6902G>A	c.(6901-6903)cGa>cAa	p.R2301Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R2301Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2301					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTCATAGCTCGGGATATATC	0.428																																																	0													95.0	86.0	89.0					6																	90424429		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6902G>A	6.37:g.90424429C>T	ENSP00000358400:p.Arg2301Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.R2301Q	ENST00000369393.3	37	c.6902	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409914	0.83340	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39592	1.07;1.07	5.15	5.15	0.70609	ATPase, AAA+ type, core (1);	0.000000	0.64402	D	0.000001	T	0.64811	0.2632	M	0.84585	2.705	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.68872	-0.5294	10	0.54805	T	0.06	.	19.0139	0.92886	0.0:1.0:0.0:0.0	.	2301	Q9NU22	MDN1_HUMAN	Q	2301	ENSP00000358400:R2301Q;ENSP00000413970:R2301Q	ENSP00000358400:R2301Q	R	-	2	0	MDN1	90481150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.562000	0.86427	0.637000	0.83480	CGA	MDN1	-	smart_AAA+_ATPase,pirsf_Midasin		0.428	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90424429	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T
MED12	9968	genome.wustl.edu	37	X	70346188	70346188	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:70346188C>G	ENST00000374080.3	+	19	2573				MED12_ENST00000333646.6_Intron|MED12_ENST00000374102.1_Intron			Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGCCCTTATCAGGTCTCCCG	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													68.0	64.0	66.0					X																	70346188		2045	4181	6226	SO:0001627	intron_variant	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2542-3C>G	X.37:g.70346188C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O15410|O75557|Q9UHV6|Q9UND7	RNA	SNP	-	NULL	ENST00000374080.3	37	NULL	CCDS43970.1	X																																																																																			MED12	-	-		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70346188	+1	no_errors	ENST00000471663	ensembl	human	known	70_37	rna	SNP	1.000	G
MED17	9440	genome.wustl.edu	37	11	93529609	93529609	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:93529609C>G	ENST00000251871.3	+	7	1333	c.1046C>G	c.(1045-1047)tCa>tGa	p.S349*	MED17_ENST00000533367.1_3'UTR|snoU13_ENST00000459243.1_RNA	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	349					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGCCATTCCTCAAATGATAAG	0.358																																																	0													150.0	150.0	150.0					11																	93529609		2201	4298	6499	SO:0001587	stop_gained	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.1046C>G	11.37:g.93529609C>G	ENSP00000251871:p.Ser349*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Nonsense_Mutation	SNP	pfam_Mediator_Med17	p.S349*	ENST00000251871.3	37	c.1046	CCDS8295.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.653182	0.98412	.	.	ENSG00000042429	ENST00000251871;ENST00000427225	.	.	.	6.06	6.06	0.98353	.	0.230983	0.46145	D	0.000303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-12.8912	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	349;319	.	ENSP00000251871:S349X	S	+	2	0	MED17	93169257	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.021000	0.70832	2.882000	0.98803	0.655000	0.94253	TCA	MED17	-	pfam_Mediator_Med17		0.358	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	C	NM_004268		93529609	+1	no_errors	ENST00000251871	ensembl	human	known	70_37	nonsense	SNP	1.000	G
MED22	6837	genome.wustl.edu	37	9	136212068	136212068	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:136212068C>T	ENST00000491289.1	-	3	744	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	MED22_ENST00000371999.1_Missense_Mutation_p.E55K|MED22_ENST00000344469.5_Missense_Mutation_p.E55K|MED22_ENST00000343730.5_Missense_Mutation_p.E55K|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000476080.1_Missense_Mutation_p.E55K			Q15528	MED22_HUMAN	mediator complex subunit 22	55						cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		TTGTCCTGTTCACCCTGAGTG	0.597																																																	0													138.0	93.0	108.0					9																	136212068		2203	4300	6503	SO:0001583	missense	6837				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.163G>A	9.37:g.136212068C>T	ENSP00000420393:p.Glu55Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW83|B3KWX4|O76072|Q5T8U0	Missense_Mutation	SNP	pfam_Mediator_Med22	p.E55K	ENST00000491289.1	37	c.163	CCDS6963.1	9	.	.	.	.	.	.	.	.	.	.	C	14.43	2.533698	0.45073	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	4.41	3.51	0.40186	.	0.000000	0.85682	D	0.000000	T	0.62307	0.2417	M	0.80028	2.48	0.80722	D	1	B;B	0.20368	0.044;0.007	B;B	0.20955	0.032;0.03	T	0.60525	-0.7246	9	0.42905	T	0.14	0.0179	10.7985	0.46474	0.0:0.9057:0.0:0.0943	.	55;55	Q15528-2;Q15528	.;MED22_HUMAN	K	55	.	ENSP00000342343:E55K	E	-	1	0	MED22	135201889	1.000000	0.71417	0.924000	0.36721	0.935000	0.57460	7.719000	0.84751	0.848000	0.35191	0.462000	0.41574	GAA	MED22	-	pfam_Mediator_Med22		0.597	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	HGNC	protein_coding	OTTHUMT00000054898.2	C	NM_133640		136212068	-1	no_errors	ENST00000343730	ensembl	human	known	70_37	missense	SNP	0.997	T
MED23	9439	genome.wustl.edu	37	6	131923425	131923425	+	Silent	SNP	G	G	A	rs538314298	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:131923425G>A	ENST00000368068.3	-	17	2207	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	MED23_ENST00000545957.1_Silent_p.L317L|MED23_ENST00000354577.4_Silent_p.L682L|MED23_ENST00000368060.3_Silent_p.L676L|MED23_ENST00000368053.4_Silent_p.L682L|MED23_ENST00000403834.3_Silent_p.L682L|MED23_ENST00000540546.1_Silent_p.L682L|MED23_ENST00000368058.1_Silent_p.L682L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	676					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATTCTGCTGAGAGCACTGTTT	0.458													G|||	3	0.000599042	0.0	0.0	5008	,	,		15645	0.0		0.0	False		,,,				2504	0.0031																0													165.0	144.0	151.0					6																	131923425		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2028C>T	6.37:g.131923425G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.L682	ENST00000368068.3	37	c.2046	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23		0.458	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	G			131923425	-1	no_errors	ENST00000368058	ensembl	human	known	70_37	silent	SNP	0.989	A
MED25	81857	genome.wustl.edu	37	19	50339101	50339101	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:50339101C>T	ENST00000312865.6	+	16	1917	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	MED25_ENST00000538643.1_Missense_Mutation_p.P409S|PTOV1-AS1_ENST00000596521.1_RNA	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	622	Interaction with RARA.|Pro-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		TCAAGGCCCTCCTGGAGCAGC	0.716																																					GBM(51;894 1657 37868)												0													14.0	17.0	16.0					19																	50339101		2196	4276	6472	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1864C>T	19.37:g.50339101C>T	ENSP00000326767:p.Pro622Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.P622S	ENST00000312865.6	37	c.1864	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932851	0.34096	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000536547	T;T	0.76448	-1.02;-1.02	5.01	3.98	0.46160	.	0.594483	0.18288	N	0.145796	T	0.60983	0.2311	N	0.19112	0.55	0.40588	D	0.981465	B;B;B	0.29862	0.259;0.259;0.259	B;B;B	0.23018	0.039;0.043;0.026	T	0.58929	-0.7549	10	0.32370	T	0.25	.	10.7	0.45922	0.0:0.9101:0.0:0.0899	.	409;622;622	B9TX30;B5ME50;Q71SY5	.;.;MED25_HUMAN	S	622;622;622;622;601;409;357;111	ENSP00000326767:P622S;ENSP00000437496:P409S	ENSP00000326767:P622S	P	+	1	0	MED25	55030913	0.998000	0.40836	0.999000	0.59377	0.177000	0.22998	2.183000	0.42565	1.346000	0.45694	-0.373000	0.07131	CCT	MED25	-	NULL		0.716	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	C	NM_030973		50339101	+1	no_errors	ENST00000312865	ensembl	human	known	70_37	missense	SNP	1.000	T
MEX3A	92312	genome.wustl.edu	37	1	156047250	156047250	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:156047250G>A	ENST00000532414.2	-	2	677	c.678C>T	c.(676-678)atC>atT	p.I226I	MEX3A_ENST00000442784.1_Intron|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	226	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CCCGCACACGGATGGTCACCT	0.622																																																	0													64.0	75.0	71.0					1																	156047250		2176	4279	6455	SO:0001819	synonymous_variant	92312			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.678C>T	1.37:g.156047250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.I226	ENST00000532414.2	37	c.678	CCDS53377.1	1																																																																																			MEX3A	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.622	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3A	HGNC	protein_coding	OTTHUMT00000046218.3	G	NM_001093725		156047250	-1	no_errors	ENST00000532414	ensembl	human	known	70_37	silent	SNP	1.000	A
MFAP3	4238	genome.wustl.edu	37	5	153432736	153432736	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:153432736C>G	ENST00000436816.1	+	3	771	c.552C>G	c.(550-552)atC>atG	p.I184M	MFAP3_ENST00000439768.2_Missense_Mutation_p.I38M|MFAP3_ENST00000322602.5_Missense_Mutation_p.I184M	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	184					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGAAGGCTATCAATGAGTTCT	0.453																																																	0													73.0	69.0	70.0					5																	153432736		2203	4300	6503	SO:0001583	missense	4238				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.552C>G	5.37:g.153432736C>G	ENSP00000409933:p.Ile184Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I184M	ENST00000436816.1	37	c.552	CCDS4324.1	5	.	.	.	.	.	.	.	.	.	.	C	18.17	3.564535	0.65651	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.30448	1.53;1.53	5.52	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.65975	2.015	0.50039	D	0.999845	D	0.89917	1.0	D	0.87578	0.998	T	0.49466	-0.8937	9	.	.	.	-24.3464	10.8077	0.46527	0.0:0.855:0.0:0.145	.	184	P55082	MFAP3_HUMAN	M	38;184;184	ENSP00000409933:I184M;ENSP00000322956:I184M	.	I	+	3	3	MFAP3	153412929	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.485000	0.45250	1.471000	0.48121	0.655000	0.94253	ATC	MFAP3	-	NULL		0.453	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2	C	NM_005927		153432736	+1	no_errors	ENST00000322602	ensembl	human	known	70_37	missense	SNP	1.000	G
MFAP3	4238	genome.wustl.edu	37	5	153433097	153433097	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:153433097C>G	ENST00000436816.1	+	3	1132	c.913C>G	c.(913-915)Ctg>Gtg	p.L305V	MFAP3_ENST00000439768.2_Missense_Mutation_p.L159V|MFAP3_ENST00000322602.5_Missense_Mutation_p.L305V	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	305					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		TGATGGCTCTCTGAATGAACA	0.453																																																	0													100.0	103.0	102.0					5																	153433097		2203	4300	6503	SO:0001583	missense	4238				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.913C>G	5.37:g.153433097C>G	ENSP00000409933:p.Leu305Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDK0|B4DKA1|Q9NXA7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L305V	ENST00000436816.1	37	c.913	CCDS4324.1	5	.	.	.	.	.	.	.	.	.	.	C	9.745	1.165898	0.21538	.	.	ENSG00000037749	ENST00000439768;ENST00000436816;ENST00000322602	T;T	0.19394	2.15;2.15	5.72	4.85	0.62838	.	0.164825	0.37483	N	0.002067	T	0.16938	0.0407	L	0.42686	1.345	0.28951	N	0.890373	B	0.28512	0.214	B	0.20767	0.031	T	0.09574	-1.0668	9	.	.	.	-8.4284	11.2127	0.48808	0.0:0.6856:0.2427:0.0717	.	305	P55082	MFAP3_HUMAN	V	159;305;305	ENSP00000409933:L305V;ENSP00000322956:L305V	.	L	+	1	2	MFAP3	153413290	0.082000	0.21442	1.000000	0.80357	0.990000	0.78478	-0.115000	0.10741	1.544000	0.49359	0.650000	0.86243	CTG	MFAP3	-	NULL		0.453	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3	HGNC	protein_coding	OTTHUMT00000252457.2	C	NM_005927		153433097	+1	no_errors	ENST00000322602	ensembl	human	known	70_37	missense	SNP	0.996	G
MFNG	4242	genome.wustl.edu	37	22	37870703	37870703	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:37870703G>C	ENST00000356998.3	-	6	883	c.660C>G	c.(658-660)ttC>ttG	p.F220L	MFNG_ENST00000416983.3_Missense_Mutation_p.F206L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	220					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					ATGTGTCCATGAAACGGGAGC	0.642																																																	0													49.0	49.0	49.0					22																	37870703		2203	4300	6503	SO:0001583	missense	4242			BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.660C>G	22.37:g.37870703G>C	ENSP00000349490:p.Phe220Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLT6|O43730|Q504S9	Missense_Mutation	SNP	pfam_Fringe-like,pirsf_Fringe	p.F220L	ENST00000356998.3	37	c.660	CCDS13947.1	22	.	.	.	.	.	.	.	.	.	.	G	18.02	3.531159	0.64972	.	.	ENSG00000100060	ENST00000416983;ENST00000356998;ENST00000436341	T;T;T	0.64803	-0.12;-0.12;-0.12	5.43	-2.15	0.07102	.	0.000000	0.85682	D	0.000000	T	0.69178	0.3082	L	0.58354	1.805	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.64803	-0.6321	10	0.39692	T	0.17	-28.8847	10.1549	0.42816	0.4581:0.0:0.5419:0.0	.	206;220	B4DLT6;O00587	.;MFNG_HUMAN	L	206;220;98	ENSP00000413855:F206L;ENSP00000349490:F220L;ENSP00000394081:F98L	ENSP00000349490:F220L	F	-	3	2	MFNG	36200649	0.974000	0.33945	0.498000	0.27564	0.936000	0.57629	1.442000	0.35046	-0.583000	0.05921	-0.469000	0.05056	TTC	MFNG	-	pfam_Fringe-like,pirsf_Fringe		0.642	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFNG	HGNC	protein_coding	OTTHUMT00000318902.1	G	NM_002405		37870703	-1	no_errors	ENST00000356998	ensembl	human	known	70_37	missense	SNP	0.993	C
MGAT4C	25834	genome.wustl.edu	37	12	86373920	86373920	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:86373920C>G	ENST00000604798.1	-	8	1788	c.584G>C	c.(583-585)aGa>aCa	p.R195T	MGAT4C_ENST00000393205.2_Missense_Mutation_p.R224T|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R195T|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R195T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R195T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R195T			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	195					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAATTTGACTCTATCTTCTGG	0.343																																																	0													104.0	106.0	105.0					12																	86373920		2203	4300	6503	SO:0001583	missense	25834				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.584G>C	12.37:g.86373920C>G	ENSP00000474896:p.Arg195Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.R224T	ENST00000604798.1	37	c.671	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	C	6.466	0.454111	0.12283	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4	5.79	2.92	0.33932	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.89904	3.07	0.38772	D	0.954579	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.75263	-0.3379	10	0.48119	T	0.1	-14.7983	8.7564	0.34648	0.1232:0.7466:0.0:0.1302	.	224;195	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	T	195;224;195;195;195;195;195	ENSP00000331664:R195T;ENSP00000376900:R224T;ENSP00000449022:R195T;ENSP00000446647:R195T;ENSP00000447253:R195T;ENSP00000449172:R195T	ENSP00000331664:R195T	R	-	2	0	MGAT4C	84898051	1.000000	0.71417	0.351000	0.25721	0.002000	0.02628	6.064000	0.71169	0.796000	0.33947	-0.150000	0.13652	AGA	MGAT4C	-	pfam_Glyco_transf_54		0.343	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2	C	NM_013244		86373920	-1	no_errors	ENST00000393205	ensembl	human	known	70_37	missense	SNP	0.685	G
MIB1	57534	genome.wustl.edu	37	18	19359615	19359615	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:19359615G>A	ENST00000261537.6	+	6	1141	c.877G>A	c.(877-879)Gac>Aac	p.D293N	AC091038.1_ENST00000582102.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	293					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGAAGATCATGACATTGTAGT	0.368																																																	0													287.0	253.0	264.0					18																	19359615		2203	4300	6503	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.877G>A	18.37:g.19359615G>A	ENSP00000261537:p.Asp293Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.D293N	ENST00000261537.6	37	c.877	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	32	5.144638	0.94603	.	.	ENSG00000101752	ENST00000261537	T	0.49139	0.79	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.68577	0.3016	M	0.81802	2.56	0.80722	D	1	P	0.49447	0.924	P	0.59424	0.857	T	0.74728	-0.3567	10	0.87932	D	0	-12.4678	17.8823	0.88844	0.0:0.0:1.0:0.0	.	293	Q86YT6	MIB1_HUMAN	N	293	ENSP00000261537:D293N	ENSP00000261537:D293N	D	+	1	0	MIB1	17613613	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.804000	0.99143	2.305000	0.77605	0.289000	0.19496	GAC	MIB1	-	NULL		0.368	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	G	NM_020774		19359615	+1	no_errors	ENST00000261537	ensembl	human	known	70_37	missense	SNP	1.000	A
MICAL3	57553	genome.wustl.edu	37	22	18273683	18273683	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:18273683C>G	ENST00000441493.2	-	32	6177		c.e32-1		MICAL3_ENST00000580469.1_Splice_Site|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3						actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTAAGGTGATCTTGAAGGAGA	0.577																																																	0													48.0	49.0	49.0					22																	18273683		2038	4187	6225	SO:0001630	splice_region_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.5825-1G>C	22.37:g.18273683C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Splice_Site	SNP	-	e31-1	ENST00000441493.2	37	c.5825-1	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620637	0.28889	.	.	ENSG00000093100	ENST00000252134;ENST00000441493	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4478	0.90691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XXbac-B461K10.4	16653683	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	7.776000	0.85560	2.440000	0.82611	0.491000	0.48974	.	MICAL3	-	-		0.577	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	C		Intron	18273683	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	splice_site	SNP	1.000	G
MID2	11043	genome.wustl.edu	37	X	107148838	107148839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:107148838_107148839insA	ENST00000262843.6	+	5	1603_1604	c.1055_1056insA	c.(1054-1059)gcaaaafs	p.AK352fs	MID2_ENST00000443968.2_Frame_Shift_Ins_p.AK352fs|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	352	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTACAGTCTGCAAAAAATATTG	0.421																																																	0																																										SO:0001589	frameshift_variant	11043				CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1061dupA	X.37:g.107148844_107148844dupA	ENSP00000262843:p.Ala352fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Frame_Shift_Ins	INS	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.N354fs	ENST00000262843.6	37	c.1055_1056	CCDS14532.2	X																																																																																			MID2	-	smart_Bbox_C		0.421	MID2-001	KNOWN	basic|CCDS	protein_coding	MID2	HGNC	protein_coding	OTTHUMT00000057852.2	-	NM_012216		107148839	+1	no_errors	ENST00000262843	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
MIEN1	84299	genome.wustl.edu	37	17	37886509	37886509	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:37886509A>G	ENST00000394231.3	-	2	416	c.125T>C	c.(124-126)cTg>cCg	p.L42P	MIEN1_ENST00000577810.1_Missense_Mutation_p.L42P|ERBB2_ENST00000584888.1_3'UTR|MIEN1_ENST00000474210.1_Intron			Q9BRT3	MIEN1_HUMAN	migration and invasion enhancer 1	42					apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell migration (GO:0030335)|positive regulation of filopodium assembly (GO:0051491)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	selenium binding (GO:0008430)										AGCACTGGCCAGCTCCAGGTA	0.662											OREG0024383	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26.0	29.0	28.0					17																	37886509		2202	4300	6502	SO:0001583	missense	84299			AJ308025	CCDS11344.1	17q12	2011-09-21	2011-09-21	2011-09-21	ENSG00000141741	ENSG00000141741			28230	protein-coding gene	gene with protein product		611802	"""chromosome 17 open reading frame 37"""	C17orf37		17121940, 12739007, 17503775, 21628459	Standard	NM_032339		Approved	MGC14832, ORB3, XTP4, C35, Rdx12	uc002hsq.3	Q9BRT3	OTTHUMG00000133252	ENST00000394231.3:c.125T>C	17.37:g.37886509A>G	ENSP00000377778:p.Leu42Pro	Somatic	874	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.L42P	ENST00000394231.3	37	c.125	CCDS11344.1	17	.	.	.	.	.	.	.	.	.	.	A	18.19	3.568831	0.65765	.	.	ENSG00000141741	ENST00000394231	T	0.52526	0.66	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000005	T	0.70745	0.3259	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76567	-0.2912	10	0.87932	D	0	-17.0176	13.6518	0.62314	1.0:0.0:0.0:0.0	.	42	Q9BRT3	MIEN1_HUMAN	P	42	ENSP00000377778:L42P	ENSP00000377778:L42P	L	-	2	0	C17orf37	35140035	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.215000	0.72206	2.069000	0.61940	0.402000	0.26972	CTG	MIEN1	-	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ		0.662	MIEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIEN1	HGNC	protein_coding	OTTHUMT00000257020.3	A	NM_032339		37886509	-1	no_errors	ENST00000394231	ensembl	human	known	70_37	missense	SNP	1.000	G
MINOS1	440574	genome.wustl.edu	37	1	19952930	19952930	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:19952930G>C	ENST00000322753.6	+	0	328				MINOS1-NBL1_ENST00000602662.1_Intron	NM_001032363.3|NM_001204082.1|NM_001204083.1	NP_001027535.1|NP_001191011.1|NP_001191012.1	Q5TGZ0	MIC10_HUMAN	mitochondrial inner membrane organizing system 1							integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)											GAGGACAAGAGAAATCATGTT	0.453																																																	0													81.0	66.0	71.0					1																	19952930		2203	4300	6503	SO:0001624	3_prime_UTR_variant	440574			AK094318	CCDS30620.1, CCDS72719.1	1p36.13	2013-10-11	2011-10-04	2011-10-04	ENSG00000173436	ENSG00000173436			32068	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 151"""	C1orf151		21944719	Standard	NM_001032363		Approved	RP5-1056L3.2, FLJ36999, MIO10	uc021ohu.1	Q5TGZ0	OTTHUMG00000002712	ENST00000322753.6:c.*35G>C	1.37:g.19952930G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96G68	RNA	SNP	-	NULL	ENST00000322753.6	37	NULL	CCDS30620.1	1																																																																																			MINOS1	-	-		0.453	MINOS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINOS1	HGNC	protein_coding	OTTHUMT00000007697.2	G	NM_001032363		19952930	+1	no_errors	ENST00000467029	ensembl	human	known	70_37	rna	SNP	1.000	C
MIR124-3	406909	genome.wustl.edu	37	20	61809853	61809853	+	lincRNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:61809853G>C	ENST00000423020.1	-	0	188				MIR124-3_ENST00000384866.1_RNA																							CCCCAGCCCTGAGGGCCCCTC	0.672																																																	0													19.0	23.0	21.0					20																	61809853		1566	3581	5147			406909																															20.37:g.61809853G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423020.1	37	NULL		20																																																																																			MIR124-3	-	-		0.672	RP5-963E22.4-001	KNOWN	basic|exp_conf	lincRNA	MIR124-3	HGNC	lincRNA	OTTHUMT00000276288.1	G			61809853	+1	no_errors	ENST00000384866	ensembl	human	known	70_37	rna	SNP	0.986	C
MKNK2	2872	genome.wustl.edu	37	19	2041044	2041044	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2041044G>A	ENST00000591601.1	-	11	1140	c.1105C>T	c.(1105-1107)Cag>Tag	p.Q369*	MKNK2_ENST00000591142.1_Nonsense_Mutation_p.Q113*|MKNK2_ENST00000309340.7_Nonsense_Mutation_p.Q369*|MKNK2_ENST00000250896.3_Nonsense_Mutation_p.Q369*|MKNK2_ENST00000591588.1_Nonsense_Mutation_p.Q113*|MKNK2_ENST00000541165.1_Nonsense_Mutation_p.Q238*|MKNK2_ENST00000588014.1_Nonsense_Mutation_p.Q113*			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	369	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		CTCACCCCCTGAACCCAGGGG	0.667																																																	0													71.0	63.0	66.0					19																	2041044		2203	4300	6503	SO:0001587	stop_gained	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.1105C>T	19.37:g.2041044G>A	ENSP00000467811:p.Gln369*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q369*	ENST00000591601.1	37	c.1105	CCDS12080.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.808585	0.97853	.	.	ENSG00000099875	ENST00000309340;ENST00000250896;ENST00000541165;ENST00000545627	.	.	.	3.82	3.82	0.43975	.	0.203652	0.42420	D	0.000706	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-5.9651	14.8848	0.70560	0.0:0.0:1.0:0.0	.	.	.	.	X	369;369;238;309	.	ENSP00000250896:Q369X	Q	-	1	0	MKNK2	1992044	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	7.360000	0.79487	1.980000	0.57719	0.462000	0.41574	CAG	MKNK2	-	superfamily_Kinase-like_dom		0.667	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	G	NM_199054		2041044	-1	no_errors	ENST00000250896	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MIR519A2	574500	genome.wustl.edu	37	19	54264452	54264452	+	lincRNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54264452C>T	ENST00000384990.1	+	0	0				MIR1283-2_ENST00000408621.1_RNA|MIR516A2_ENST00000384888.1_RNA|RNU6-1041P_ENST00000516254.1_RNA	NR_030222.1				microRNA 519a-2																		GAAAGTGCTTCCTTTCAGAGG	0.433																																																	0													91.0	86.0	87.0					19																	54264452		1568	3582	5150			574499					19q13.42	2011-09-12		2008-12-18	ENSG00000207723			"""ncRNAs / Micro RNAs"""	32132	non-coding RNA	RNA, micro				MIRN519A-2, MIRN519A2			Standard	NR_030222		Approved	hsa-mir-519a-2	uc021vaz.1				19.37:g.54264452C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384990.1	37	NULL		19																																																																																			MIR516A2	-	-		0.433	MIR519A2-201	KNOWN	basic	miRNA	MIR516A2	HGNC	lincRNA		C	NR_030222		54264452	+1	no_errors	ENST00000384888	ensembl	human	known	70_37	rna	SNP	0.015	T
MKS1	54903	genome.wustl.edu	37	17	56283702	56283702	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:56283702C>G	ENST00000393119.2	-	17	1604	c.1530G>C	c.(1528-1530)cgG>cgC	p.R510R	MKS1_ENST00000313863.6_Missense_Mutation_p.G438A|MKS1_ENST00000337050.7_Intron|MKS1_ENST00000546108.1_Silent_p.R307R|MKS1_ENST00000537529.2_Silent_p.R500R	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	510					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACACACTCCGCATCCTTT	0.602																																																	0													119.0	124.0	123.0					17																	56283702		2030	4178	6208	SO:0001819	synonymous_variant	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.1530G>C	17.37:g.56283702C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.G438A	ENST00000393119.2	37	c.1313	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	C	9.918	1.211393	0.22289	.	.	ENSG00000011143	ENST00000313863	.	.	.	4.94	2.91	0.33838	.	.	.	.	.	T	0.53626	0.1808	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45308	-0.9270	4	.	.	.	-23.2735	5.2629	0.15584	0.1649:0.6659:0.0:0.1692	.	.	.	.	Q	439	.	.	E	-	1	0	MKS1	53638701	1.000000	0.71417	0.988000	0.46212	0.547000	0.35210	3.314000	0.51943	0.643000	0.30638	0.555000	0.69702	GAG	MKS1	-	NULL		0.602	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	C	NM_017777		56283702	-1	no_errors	ENST00000313863	ensembl	human	putative	70_37	missense	SNP	1.000	G
KMT2D	8085	genome.wustl.edu	37	12	49431395	49431395	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:49431395G>C	ENST00000301067.7	-	34	9743	c.9744C>G	c.(9742-9744)ctC>ctG	p.L3248L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3248					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GGTCCTCAATGAGCAGGGGTA	0.572																																																	0													30.0	30.0	30.0					12																	49431395		2129	4256	6385	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9744C>G	12.37:g.49431395G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L3248	ENST00000301067.7	37	c.9744	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49431395	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	silent	SNP	0.994	C
KMT2C	58508	genome.wustl.edu	37	7	151945301	151945301	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:151945301C>T	ENST00000262189.6	-	14	2436	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	KMT2C_ENST00000355193.2_Missense_Mutation_p.E740K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	740					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGAGTCATTTCAGAGTCCATC	0.363																																																	0													76.0	74.0	75.0					7																	151945301		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2218G>A	7.37:g.151945301C>T	ENSP00000262189:p.Glu740Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E740K	ENST00000262189.6	37	c.2218	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898672	0.33535	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84298	-1.83;-1.83	5.53	4.64	0.57946	.	0.135475	0.32655	N	0.005807	T	0.75824	0.3902	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.69202	-0.5207	10	0.23302	T	0.38	.	12.0675	0.53596	0.0:0.8635:0.0:0.1365	.	740	Q8NEZ4	MLL3_HUMAN	K	740	ENSP00000262189:E740K;ENSP00000347325:E740K	ENSP00000262189:E740K	E	-	1	0	MLL3	151576234	1.000000	0.71417	0.903000	0.35520	0.759000	0.43091	3.549000	0.53681	2.596000	0.87737	0.650000	0.86243	GAA	MLL3	-	NULL		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151945301	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.630	T
MLLT3	4300	genome.wustl.edu	37	9	20622291	20622291	+	5'UTR	SNP	G	G	A	rs375807996		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:20622291G>A	ENST00000380338.4	-	0	251				MLLT3_ENST00000429426.2_5'Flank|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGTGTTGTGTGGTACCCCCCC	0.587			T	MLL	ALL																																			Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0										0,4406		0,0,2203	34.0	40.0	38.0			4.2	1.0	9		38	1,8597	1.2+/-3.3	0,1,4298	no	utr-5	MLLT3	NM_004529.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077			20622291	1,13003	2203	4299	6502	SO:0001623	5_prime_UTR_variant	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.-36C>T	9.37:g.20622291G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	RNA	SNP	-	NULL	ENST00000380338.4	37	NULL	CCDS6494.1	9																																																																																			MLLT3	-	-		0.587	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	G	NM_004529		20622291	-1	no_errors	ENST00000475957	ensembl	human	known	70_37	rna	SNP	1.000	A
MLXIP	22877	genome.wustl.edu	37	12	122618098	122618098	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:122618098C>T	ENST00000319080.7	+	9	1428	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	MLXIP_ENST00000538698.1_Silent_p.F39F|MLXIP_ENST00000377037.2_Intron					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCCCTGTCTTCACCATGCCCC	0.657																																					Esophageal Squamous(105;787 1493 16200 18566 52466)												0													17.0	20.0	19.0					12																	122618098		2088	4209	6297	SO:0001819	synonymous_variant	22877			AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.1296C>T	12.37:g.122618098C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.F432	ENST00000319080.7	37	c.1296		12																																																																																			MLXIP	-	NULL		0.657	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	MLXIP	HGNC	protein_coding	OTTHUMT00000401718.2	C	NM_014938		122618098	+1	no_errors	ENST00000319080	ensembl	human	known	70_37	silent	SNP	0.888	T
MMP1	4312	genome.wustl.edu	37	11	102667487	102667487	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:102667487C>G	ENST00000315274.6	-	4	600	c.533G>C	c.(532-534)gGa>gCa	p.G178A	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	178	Metalloprotease.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	AAGATTTCCTCCAGGTCCATC	0.438																																																	0													123.0	108.0	113.0					11																	102667487		2203	4299	6502	SO:0001583	missense	4312			X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.533G>C	11.37:g.102667487C>G	ENSP00000322788:p.Gly178Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	P08156	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G178A	ENST00000315274.6	37	c.533	CCDS8322.1	11	.	.	.	.	.	.	.	.	.	.	c	9.553	1.116470	0.20795	.	.	ENSG00000196611	ENST00000315274	T	0.27256	1.68	5.87	-0.511	0.11970	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.659654	0.14301	N	0.328247	T	0.27419	0.0673	M	0.77820	2.39	0.09310	N	1	B	0.31274	0.317	B	0.29942	0.109	T	0.19549	-1.0302	10	0.31617	T	0.26	.	11.1359	0.48375	0.0:0.4967:0.0:0.5033	.	178	P03956	MMP1_HUMAN	A	178	ENSP00000322788:G178A	ENSP00000322788:G178A	G	-	2	0	MMP1	102172697	0.000000	0.05858	0.004000	0.12327	0.734000	0.41952	-0.396000	0.07278	0.056000	0.16144	0.655000	0.94253	GGA	MMP1	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.438	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP1	HGNC	protein_coding	OTTHUMT00000109632.1	C	NM_002421		102667487	-1	no_errors	ENST00000315274	ensembl	human	known	70_37	missense	SNP	0.000	G
MMP13	4322	genome.wustl.edu	37	11	102819836	102819836	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:102819836C>T	ENST00000260302.3	-	7	997	c.969G>A	c.(967-969)acG>acA	p.T323T	MMP13_ENST00000340273.4_Silent_p.T323T	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	323	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AAAATGATTTCGTTAAAAACA	0.423																																																	0													131.0	119.0	123.0					11																	102819836		2202	4299	6501	SO:0001819	synonymous_variant	4322			X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.969G>A	11.37:g.102819836C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K846|B2RCZ3|Q6NWN6	Silent	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.T323	ENST00000260302.3	37	c.969	CCDS8324.1	11																																																																																			MMP13	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MMP13	HGNC	protein_coding	OTTHUMT00000386648.1	C	NM_002427		102819836	-1	no_errors	ENST00000340273	ensembl	human	novel	70_37	silent	SNP	0.997	T
MMP19	4327	genome.wustl.edu	37	12	56231076	56231076	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56231076C>G	ENST00000322569.4	-	9	1362	c.1271G>C	c.(1270-1272)gGa>gCa	p.G424A	MMP19_ENST00000394182.1_Missense_Mutation_p.G138A|MMP19_ENST00000548629.1_Missense_Mutation_p.G401A|MMP19_ENST00000409200.3_3'UTR|TMEM198B_ENST00000478241.1_RNA	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	424					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GTTTGGCACTCCCGTAAACAA	0.562																																																	0													104.0	110.0	108.0					12																	56231076		2203	4300	6503	SO:0001583	missense	4327			X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.1271G>C	12.37:g.56231076C>G	ENSP00000313437:p.Gly424Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E030|O15278|O95606|Q99580	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.G424A	ENST00000322569.4	37	c.1271	CCDS8895.1	12	.	.	.	.	.	.	.	.	.	.	c	18.42	3.620807	0.66787	.	.	ENSG00000123342	ENST00000394182;ENST00000322569;ENST00000548629	T;T;T	0.04194	3.68;3.68;3.68	5.84	5.84	0.93424	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	H	0.96333	3.805	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.963;1.0	T	0.50583	-0.8811	10	0.87932	D	0	.	17.6423	0.88140	0.0:1.0:0.0:0.0	.	424;138	Q99542;Q99542-3	MMP19_HUMAN;.	A	138;424;401	ENSP00000377736:G138A;ENSP00000313437:G424A;ENSP00000446979:G401A	ENSP00000313437:G424A	G	-	2	0	MMP19	54517343	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	7.186000	0.77722	2.769000	0.95229	0.651000	0.88453	GGA	MMP19	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.562	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP19	HGNC	protein_coding	OTTHUMT00000408023.1	C	NM_002429		56231076	-1	no_errors	ENST00000322569	ensembl	human	known	70_37	missense	SNP	1.000	G
MMP27	64066	genome.wustl.edu	37	11	102567510	102567510	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:102567510G>C	ENST00000260229.4	-	5	767	c.676C>G	c.(676-678)Cac>Gac	p.H226D		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	226					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TCATTGGAGTGAGAGAGCCCC	0.418																																																	0													90.0	78.0	82.0					11																	102567510		2203	4299	6502	SO:0001583	missense	64066			AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.676C>G	11.37:g.102567510G>C	ENSP00000260229:p.His226Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWK6	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.H226D	ENST00000260229.4	37	c.676	CCDS8319.1	11	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455272	0.84209	.	.	ENSG00000137675	ENST00000260229	D	0.83837	-1.77	5.74	5.74	0.90152	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000008	D	0.95771	0.8624	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97454	1.0030	10	0.87932	D	0	.	19.9306	0.97117	0.0:0.0:1.0:0.0	.	226	Q9H306	MMP27_HUMAN	D	226	ENSP00000260229:H226D	ENSP00000260229:H226D	H	-	1	0	MMP27	102072720	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.476000	0.97823	2.732000	0.93576	0.591000	0.81541	CAC	MMP27	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.418	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP27	HGNC	protein_coding	OTTHUMT00000398128.1	G	NM_022122		102567510	-1	no_errors	ENST00000260229	ensembl	human	known	70_37	missense	SNP	1.000	C
MORC3	23515	genome.wustl.edu	37	21	37747582	37747582	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:37747582C>T	ENST00000400485.1	+	17	2884	c.2808C>T	c.(2806-2808)atC>atT	p.I936I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	936					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TGAGTGAAATCAGTAGTACTT	0.289																																																	0													134.0	122.0	126.0					21																	37747582		1853	4092	5945	SO:0001819	synonymous_variant	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2808C>T	21.37:g.37747582C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA92|Q9UEZ2	Silent	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.I936	ENST00000400485.1	37	c.2808	CCDS42924.1	21																																																																																			MORC3	-	NULL		0.289	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	C	NM_015358		37747582	+1	no_errors	ENST00000400485	ensembl	human	known	70_37	silent	SNP	1.000	T
MORN3	283385	genome.wustl.edu	37	12	122091038	122091038	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:122091038C>T	ENST00000355329.3	-	4	761	c.591G>A	c.(589-591)acG>acA	p.T197T		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	197						nucleus (GO:0005634)		p.T197T(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AGTCGATCATCGTCCCGCATT	0.617																																																	1	Substitution - coding silent(1)	lung(1)											58.0	47.0	51.0					12																	122091038		2203	4300	6503	SO:0001819	synonymous_variant	283385			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.591G>A	12.37:g.122091038C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YQ9	Silent	SNP	pfam_MORN,smart_MORN	p.T197	ENST00000355329.3	37	c.591	CCDS31917.1	12																																																																																			MORN3	-	NULL		0.617	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	C	NM_173855		122091038	-1	no_errors	ENST00000355329	ensembl	human	known	70_37	silent	SNP	0.658	T
MOV10L1	54456	genome.wustl.edu	37	22	50547268	50547268	+	Missense_Mutation	SNP	G	G	C	rs375784034		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50547268G>C	ENST00000262794.5	+	5	821	c.738G>C	c.(736-738)aaG>aaC	p.K246N	MOV10L1_ENST00000545383.1_Missense_Mutation_p.K246N|MOV10L1_ENST00000395858.3_Missense_Mutation_p.K246N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.K226N|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	246					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CCCTAGTGAAGAGGCGGTAAG	0.557																																																	0													105.0	90.0	95.0					22																	50547268		2203	4300	6503	SO:0001583	missense	54456			AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.738G>C	22.37:g.50547268G>C	ENSP00000262794:p.Lys246Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.K246N	ENST00000262794.5	37	c.738	CCDS14084.1	22	.	.	.	.	.	.	.	.	.	.	g	6.972	0.549334	0.13374	.	.	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.32	-10.6	0.00265	.	0.914934	0.09624	N	0.777213	T	0.21427	0.0516	N	0.25890	0.77	0.18873	N	0.999983	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.13818	-1.0495	10	0.17832	T	0.49	-6.9039	10.6534	0.45661	0.1768:0.409:0.4143:0.0	.	226;246;246	F5H403;A8MXC6;Q9BXT6	.;.;M10L1_HUMAN	N	246;246;246;226	ENSP00000438978:K246N;ENSP00000262794:K246N;ENSP00000379199:K246N;ENSP00000438542:K226N	ENSP00000262794:K246N	K	+	3	2	MOV10L1	48889395	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.305000	0.02738	-3.168000	0.00226	-1.844000	0.00574	AAG	MOV10L1	-	NULL		0.557	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOV10L1	HGNC	protein_coding	OTTHUMT00000075009.2	G	NM_018995		50547268	+1	no_errors	ENST00000262794	ensembl	human	known	70_37	missense	SNP	0.000	C
MPP5	64398	genome.wustl.edu	37	14	67787084	67787084	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:67787084G>C	ENST00000261681.4	+	12	2168	c.1507G>C	c.(1507-1509)Gaa>Caa	p.E503Q	MPP5_ENST00000555925.1_Missense_Mutation_p.E469Q|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	503	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CATGAACAAAGAAAAGGACCG	0.423																																																	0													111.0	106.0	108.0					14																	67787084		2203	4300	6503	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1507G>C	14.37:g.67787084G>C	ENSP00000261681:p.Glu503Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E503Q	ENST00000261681.4	37	c.1507	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366647	0.61513	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.41400	1.0;1.0	5.58	5.58	0.84498	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.048890	0.85682	D	0.000000	T	0.31263	0.0791	N	0.10874	0.06	0.80722	D	1	B	0.17038	0.02	B	0.24006	0.05	T	0.09952	-1.0651	10	0.51188	T	0.08	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	503	Q8N3R9	MPP5_HUMAN	Q	503;469	ENSP00000261681:E503Q;ENSP00000451488:E469Q	ENSP00000261681:E503Q	E	+	1	0	MPP5	66856837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.769000	0.95229	0.655000	0.94253	GAA	MPP5	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.423	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67787084	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	C
MPPE1	65258	genome.wustl.edu	37	18	11889405	11889405	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:11889405C>G	ENST00000588072.1	-	5	1696	c.475G>C	c.(475-477)Gac>Cac	p.D159H	MPPE1_ENST00000399978.2_Missense_Mutation_p.D159H|MPPE1_ENST00000317235.7_Missense_Mutation_p.D159H|MPPE1_ENST00000344987.7_Missense_Mutation_p.D159H|MPPE1_ENST00000309976.9_Missense_Mutation_p.D159H	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	159					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						AAGCCAATGTCATGGTTTCCA	0.448																																																	0													118.0	99.0	106.0					18																	11889405		2203	4300	6503	SO:0001583	missense	65258			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.475G>C	18.37:g.11889405C>G	ENSP00000465894:p.Asp159His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.D159H	ENST00000588072.1	37	c.475	CCDS11853.1	18	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708152	0.89018	.	.	ENSG00000154889	ENST00000317235;ENST00000309976;ENST00000317251;ENST00000344987;ENST00000399978	T;T;T;D;T	0.84873	0.64;0.64;0.64;-1.91;0.64	5.77	5.77	0.91146	Calcineurin-like phosphoesterase superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.94660	0.8278	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94995	0.8138	10	0.87932	D	0	-9.2098	20.3473	0.98799	0.0:1.0:0.0:0.0	.	159;159;62;159;159;159	Q53F39-3;Q53F39-4;B3KNP1;Q53F39-5;Q53F39-2;Q53F39	.;.;.;.;.;MPPE1_HUMAN	H	159;159;62;159;159	ENSP00000327257:D159H;ENSP00000311200:D159H;ENSP00000312935:D62H;ENSP00000339423:D159H;ENSP00000382860:D159H	ENSP00000311200:D159H	D	-	1	0	MPPE1	11879405	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.129000	0.77225	2.884000	0.98904	0.655000	0.94253	GAC	MPPE1	-	pfam_Metallo_PEstase_dom		0.448	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	C	NM_023075		11889405	-1	no_errors	ENST00000588072	ensembl	human	known	70_37	missense	SNP	1.000	G
MS4A14	84689	genome.wustl.edu	37	11	60183174	60183174	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:60183174G>A	ENST00000300187.6	+	5	1010	c.733G>A	c.(733-735)Gag>Aag	p.E245K	MS4A14_ENST00000395005.2_Missense_Mutation_p.E228K|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.E278K|MS4A14_ENST00000531787.1_Missense_Mutation_p.E133K	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	245						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAAATTTTCAGAGGAAGAAAT	0.388																																																	0													70.0	69.0	69.0					11																	60183174		2203	4299	6502	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.733G>A	11.37:g.60183174G>A	ENSP00000300187:p.Glu245Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.E245K	ENST00000300187.6	37	c.733	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714074	0.30413	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.42513	0.97;2.14;0.97;2.54	3.39	0.228	0.15364	.	7.222970	0.00166	N	0.000000	T	0.40347	0.1113	L	0.34521	1.04	0.09310	N	1	D;P	0.54207	0.965;0.941	P;B	0.50049	0.629;0.425	T	0.28138	-1.0053	10	0.21540	T	0.41	-5.6428	6.5137	0.22236	0.0:0.3838:0.4193:0.1969	.	228;245	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	K	133;245;228;278	ENSP00000437222:E133K;ENSP00000300187:E245K;ENSP00000378453:E228K;ENSP00000433761:E278K	ENSP00000300187:E245K	E	+	1	0	MS4A14	59939750	0.002000	0.14202	0.001000	0.08648	0.012000	0.07955	0.618000	0.24373	0.062000	0.16340	-0.175000	0.13238	GAG	MS4A14	-	NULL		0.388	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	G			60183174	+1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	0.001	A
STK26	51765	genome.wustl.edu	37	X	131207060	131207060	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:131207060G>A	ENST00000354719.6	+	10	1309	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	MST4_ENST00000394335.2_Missense_Mutation_p.E312K|MST4_ENST00000394334.2_Missense_Mutation_p.E389K|MST4_ENST00000496850.1_Missense_Mutation_p.E327K|MST4_ENST00000481105.1_Missense_Mutation_p.E411K																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TGCTGTGGCTGAAGCCGCCTG	0.358																																																	0													59.0	65.0	63.0					X																	131207060		2192	4288	6480	SO:0001583	missense	51765																														ENST00000354719.6:c.1093G>A	X.37:g.131207060G>A	ENSP00000346755:p.Glu365Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E389K	ENST00000354719.6	37	c.1165		X	.	.	.	.	.	.	.	.	.	.	g	35	5.552976	0.96501	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000003	T	0.70307	0.3209	M	0.86268	2.805	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	0.91635	0.999;0.999;0.999;0.996;0.991	T	0.74172	-0.3751	10	0.59425	D	0.04	.	19.0056	0.92849	0.0:0.0:1.0:0.0	.	411;365;327;312;389	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289-2;Q9P289	.;.;.;.;MST4_HUMAN	K	389;411;365;312;327	ENSP00000377867:E389K;ENSP00000418753:E411K;ENSP00000346755:E365K;ENSP00000377868:E312K;ENSP00000419702:E327K	ENSP00000346755:E365K	E	+	1	0	AL109749.1	131034741	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	9.434000	0.97515	2.437000	0.82529	0.519000	0.50382	GAA	MST4	-	NULL		0.358	MST4-002	NOVEL	basic|exp_conf	protein_coding	MST4	Uniprot_genename	protein_coding	OTTHUMT00000058308.2	G			131207060	+1	no_errors	ENST00000394334	ensembl	human	known	70_37	missense	SNP	1.000	A
MTSS1L	92154	genome.wustl.edu	37	16	70697963	70697963	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70697963C>T	ENST00000338779.6	-	15	2135	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	621					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GAGGCGGTCTCGTCGGTATAG	0.697																																																	0																																										SO:0001583	missense	92154				CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1861G>A	16.37:g.70697963C>T	ENSP00000341171:p.Glu621Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJI7|Q9BUA8	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD	p.E621K	ENST00000338779.6	37	c.1861	CCDS32476.1	16	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109760	0.37242	.	.	ENSG00000132613	ENST00000338779	T	0.29655	1.56	4.37	4.37	0.52481	.	0.435018	0.22971	N	0.053440	T	0.16128	0.0388	N	0.22421	0.69	0.36475	D	0.867514	P	0.35700	0.516	B	0.29440	0.102	T	0.14172	-1.0482	10	0.12103	T	0.63	-21.1374	10.2316	0.43258	0.0:0.9013:0.0:0.0987	.	621	Q765P7	MTSSL_HUMAN	K	621	ENSP00000341171:E621K	ENSP00000341171:E621K	E	-	1	0	MTSS1L	69255464	0.612000	0.27000	0.998000	0.56505	0.533000	0.34776	1.939000	0.40213	1.961000	0.56991	0.462000	0.41574	GAG	MTSS1L	-	NULL		0.697	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1L	HGNC	protein_coding	OTTHUMT00000434927.3	C	NM_138383		70697963	-1	no_errors	ENST00000338779	ensembl	human	known	70_37	missense	SNP	1.000	T
MUC3A	4584	genome.wustl.edu	37	7	100547242	100547242	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:100547242C>G	ENST00000483366.1	+	0	56				MUC3A_ENST00000379458.4_5'Flank			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCCCAGCCCCCTGCCCGCTGG	0.662																																																	0													7.0	6.0	6.0					7																	100547242		869	1974	2843	SO:0001624	3_prime_UTR_variant	4584			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000483366.1:c.*53C>G	7.37:g.100547242C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	SNP	-	NULL	ENST00000483366.1	37	NULL		7																																																																																			MUC3A	-	-		0.662	MUC3A-006	KNOWN	basic	processed_transcript	MUC3A	HGNC	protein_coding	OTTHUMT00000347220.1	C	XM_001725354		100547242	+1	no_errors	ENST00000483366	ensembl	human	known	70_37	rna	SNP	0.014	G
MUC12	10071	genome.wustl.edu	37	7	100644356	100644356	+	Silent	SNP	A	A	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:100644356A>T	ENST00000379442.3	+	5	10941	c.10941A>T	c.(10939-10941)acA>acT	p.T3647T	MUC12_ENST00000536621.1_Silent_p.T3504T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3647	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CGCACACAACAGCATTCCCTG	0.582																																																	0													11.0	14.0	13.0					7																	100644356		356	886	1242	SO:0001819	synonymous_variant	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.10941A>T	7.37:g.100644356A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.T3647	ENST00000379442.3	37	c.10941		7																																																																																			MUC12	-	NULL		0.582	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	A	XM_379904		100644356	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	silent	SNP	0.003	T
MUC4	4585	genome.wustl.edu	37	3	195509644	195509644	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195509644G>A	ENST00000463781.3	-	2	9266	c.8807C>T	c.(8806-8808)tCa>tTa	p.S2936L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S2936L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATACTGAGGAAAGGCT	0.577																																																	0													9.0	7.0	8.0					3																	195509644		662	1509	2171	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8807C>T	3.37:g.195509644G>A	ENSP00000417498:p.Ser2936Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2936L	ENST00000463781.3	37	c.8807	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	8.745	0.920006	0.17982	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31769	1.49;1.48	.	.	.	.	.	.	.	.	T	0.31544	0.0800	N	0.19112	0.55	0.09310	N	1	P	0.52170	0.951	D	0.65443	0.935	T	0.19778	-1.0295	7	.	.	.	.	5.8178	0.18506	0.001:0.0:0.999:0.0	.	2808	E7ESK3	.	L	2936	ENSP00000417498:S2936L;ENSP00000420243:S2936L	.	S	-	2	0	MUC4	196994423	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	1.703000	0.37846	-0.000000	0.14550	0.000000	0.15137	TCA	MUC4	-	NULL		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195509644	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.211	A
MUC4	4585	genome.wustl.edu	37	3	195510782	195510782	+	Missense_Mutation	SNP	G	G	A	rs572823607		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195510782G>A	ENST00000463781.3	-	2	8128	c.7669C>T	c.(7669-7671)Cac>Tac	p.H2557Y	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H2557Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGTGGCGTGACCTGTGGAT	0.577																																																	0													74.0	60.0	64.0					3																	195510782		678	1590	2268	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7669C>T	3.37:g.195510782G>A	ENSP00000417498:p.His2557Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.H2557Y	ENST00000463781.3	37	c.7669	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	1.239	-0.621800	0.03636	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.5;1.49	.	.	.	.	.	.	.	.	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.31916	-0.9926	7	.	.	.	.	5.0679	0.14591	0.2645:0.0:0.7355:0.0	.	2557	E7ESK3	.	Y	2557	ENSP00000417498:H2557Y;ENSP00000420243:H2557Y	.	H	-	1	0	MUC4	196995177	0.806000	0.28996	0.004000	0.12327	0.000000	0.00434	1.330000	0.33781	-0.437000	0.07243	0.000000	0.15137	CAC	MUC4	-	NULL		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195510782	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.004	A
MUC4	4585	genome.wustl.edu	37	3	195510796	195510796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195510796G>T	ENST00000463781.3	-	2	8114	c.7655C>A	c.(7654-7656)tCa>tAa	p.S2552*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S2552*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGGGCT	0.582																																																	0													97.0	79.0	84.0					3																	195510796		678	1591	2269	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7655C>A	3.37:g.195510796G>T	ENSP00000417498:p.Ser2552*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2552*	ENST00000463781.3	37	c.7655	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	46	12.168344	0.99643	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.7959	0.08738	0.0:0.0:0.5797:0.4203	.	.	.	.	X	2552	.	.	S	-	2	0	MUC4	196995191	0.502000	0.26107	0.000000	0.03702	0.000000	0.00434	3.330000	0.52068	-0.000000	0.14550	0.000000	0.15137	TCA	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195510796	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.016	T
MUC4	4585	genome.wustl.edu	37	3	195511010	195511010	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195511010G>A	ENST00000463781.3	-	2	7900	c.7441C>T	c.(7441-7443)Ctt>Ttt	p.L2481F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L2481F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAAGAAGAGGGGTGGTG	0.582																																																	0													45.0	40.0	41.0					3																	195511010		659	1587	2246	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7441C>T	3.37:g.195511010G>A	ENSP00000417498:p.Leu2481Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2481F	ENST00000463781.3	37	c.7441	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	6.346	0.431942	0.12045	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.39406	1.08;1.12	.	.	.	.	.	.	.	.	T	0.22551	0.0544	N	0.19112	0.55	0.09310	N	1	B	0.20459	0.045	B	0.17722	0.019	T	0.19516	-1.0303	7	.	.	.	.	3.7458	0.08547	0.0:1.0E-4:0.5722:0.4277	.	2481	E7ESK3	.	F	2481	ENSP00000417498:L2481F;ENSP00000420243:L2481F	.	L	-	1	0	MUC4	196995405	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-0.085000	0.11250	0.620000	0.30215	0.000000	0.15137	CTT	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511010	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.040	A
MUC4	4585	genome.wustl.edu	37	3	195511375	195511375	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195511375G>A	ENST00000463781.3	-	2	7535	c.7076C>T	c.(7075-7077)tCc>tTc	p.S2359F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S2359F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATACTGAGGAAGCGTCGGT	0.582																																																	0													22.0	19.0	20.0					3																	195511375		686	1579	2265	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7076C>T	3.37:g.195511375G>A	ENSP00000417498:p.Ser2359Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2359F	ENST00000463781.3	37	c.7076	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	5.438	0.265885	0.10294	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32515	1.45;1.45	.	.	.	.	.	.	.	.	T	0.23370	0.0565	N	0.19112	0.55	0.09310	N	0.999997	P	0.51240	0.943	P	0.49361	0.608	T	0.11542	-1.0583	7	.	.	.	.	6.7067	0.23254	2.0E-4:0.0:0.9998:0.0	.	2359	E7ESK3	.	F	2359	ENSP00000417498:S2359F;ENSP00000420243:S2359F	.	S	-	2	0	MUC4	196995770	0.608000	0.26966	0.009000	0.14445	0.077000	0.17291	2.529000	0.45632	0.488000	0.27723	0.064000	0.15345	TCC	MUC4	-	NULL		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511375	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.468	A
MUC4	4585	genome.wustl.edu	37	3	195511420	195511420	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195511420G>C	ENST00000463781.3	-	2	7490	c.7031C>G	c.(7030-7032)tCa>tGa	p.S2344*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.S2344*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATGCTGAGGAAGGGCT	0.587																																																	0													5.0	8.0	7.0					3																	195511420		540	1444	1984	SO:0001587	stop_gained	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7031C>G	3.37:g.195511420G>C	ENSP00000417498:p.Ser2344*	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S2344*	ENST00000463781.3	37	c.7031	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	44	11.210800	0.99531	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.4513	0.07499	1.0E-4:1.0E-4:0.552:0.4478	.	.	.	.	X	2344	.	.	S	-	2	0	MUC4	196995815	0.051000	0.20477	0.006000	0.13384	0.019000	0.09904	1.052000	0.30429	0.488000	0.27723	0.064000	0.15345	TCA	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511420	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonsense	SNP	0.541	C
MUC4	4585	genome.wustl.edu	37	3	195512126	195512126	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195512126G>A	ENST00000463781.3	-	2	6784	c.6325C>T	c.(6325-6327)Cac>Tac	p.H2109Y	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H2109Y	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCGGTGGCGTGACCTGTGGAT	0.567																																																	0													62.0	52.0	55.0					3																	195512126		691	1591	2282	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6325C>T	3.37:g.195512126G>A	ENSP00000417498:p.His2109Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.H2109Y	ENST00000463781.3	37	c.6325	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	0.198	-1.047333	0.01981	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30981	1.51;1.51	.	.	.	.	.	.	.	.	T	0.13072	0.0317	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.31337	0.128	T	0.10314	-1.0635	7	.	.	.	.	6.2104	0.20626	0.0:0.313:0.687:0.0	.	2109	E7ESK3	.	Y	2109	ENSP00000417498:H2109Y;ENSP00000420243:H2109Y	.	H	-	1	0	MUC4	196996521	0.000000	0.05858	0.005000	0.12908	0.014000	0.08584	-0.416000	0.07097	-2.090000	0.00859	-2.366000	0.00237	CAC	MUC4	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195512126	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.248	A
MUC4	4585	genome.wustl.edu	37	3	195512719	195512719	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195512719G>A	ENST00000463781.3	-	2	6191	c.5732C>T	c.(5731-5733)tCc>tTc	p.S1911F	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1911F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATACTGAGGAAGCGTCGGT	0.567																																																	0													51.0	42.0	45.0					3																	195512719		690	1591	2281	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5732C>T	3.37:g.195512719G>A	ENSP00000417498:p.Ser1911Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1911F	ENST00000463781.3	37	c.5732	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	8.910	0.958368	0.18507	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.45	1.13	1.13	0.20643	.	.	.	.	.	T	0.12817	0.0311	N	0.19112	0.55	0.09310	N	1	P	0.42993	0.797	B	0.31191	0.125	T	0.12967	-1.0527	8	.	.	.	.	4.1248	0.10123	0.284:0.0:0.716:0.0	.	1911	E7ESK3	.	F	1911	ENSP00000417498:S1911F;ENSP00000420243:S1911F	.	S	-	2	0	MUC4	196997114	0.009000	0.17119	0.009000	0.14445	0.031000	0.12232	0.012000	0.13287	0.494000	0.27859	0.089000	0.15464	TCC	MUC4	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195512719	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.352	A
MUC4	4585	genome.wustl.edu	37	3	195516941	195516941	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195516941C>G	ENST00000463781.3	-	2	1969	c.1510G>C	c.(1510-1512)Gaa>Caa	p.E504Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E504Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	509					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGCAGTTCTGTTTGTGAC	0.478																																																	0													118.0	112.0	114.0					3																	195516941		2002	4179	6181	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1510G>C	3.37:g.195516941C>G	ENSP00000417498:p.Glu504Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.E504Q	ENST00000463781.3	37	c.1510	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	2.042	-0.419810	0.04734	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.49432	0.78;0.8	2.28	0.334	0.15948	.	.	.	.	.	T	0.36220	0.0959	N	0.22421	0.69	0.09310	N	1	D;P	0.59357	0.985;0.904	P;P	0.53224	0.721;0.559	T	0.18967	-1.0320	9	0.18276	T	0.48	.	3.5307	0.07775	0.0:0.5712:0.2656:0.1632	.	504;509	E7ESK3;Q99102	.;MUC4_HUMAN	Q	504;504;478	ENSP00000417498:E504Q;ENSP00000420243:E504Q	ENSP00000376209:E478Q	E	-	1	0	MUC4	197001336	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.252000	0.02880	0.070000	0.16634	-0.564000	0.04169	GAA	MUC4	-	NULL		0.478	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195516941	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.001	G
MUC4	4585	genome.wustl.edu	37	3	195517883	195517883	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:195517883C>G	ENST00000463781.3	-	2	1027	c.568G>C	c.(568-570)Gac>Cac	p.D190H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D190H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	195					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGATGTGTCTTGGATAGAG	0.507																																																	0													261.0	247.0	251.0					3																	195517883		2083	4217	6300	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.568G>C	3.37:g.195517883C>G	ENSP00000417498:p.Asp190His	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.D190H	ENST00000463781.3	37	c.568	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	4.595	0.110548	0.08780	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.36340	1.26;1.27	3.48	1.63	0.23807	.	1.838090	0.03381	N	0.200357	T	0.31263	0.0791	L	0.38175	1.15	0.09310	N	1	D;P	0.53462	0.96;0.921	B;B	0.43658	0.426;0.211	T	0.17868	-1.0355	10	0.40728	T	0.16	-0.0905	4.7813	0.13204	0.0:0.6535:0.223:0.1235	.	190;195	E7ESK3;Q99102	.;MUC4_HUMAN	H	190;190;164	ENSP00000417498:D190H;ENSP00000420243:D190H	ENSP00000376209:D164H	D	-	1	0	MUC4	197002278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.535000	0.06142	0.467000	0.27218	0.531000	0.56144	GAC	MUC4	-	NULL		0.507	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195517883	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	G
MUM1	84939	genome.wustl.edu	37	19	1364566	1364566	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:1364566C>A	ENST00000415183.3	+	6	1301	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	MUM1_ENST00000591806.1_Missense_Mutation_p.F425L|MUM1_ENST00000344663.3_Missense_Mutation_p.F425L|MUM1_ENST00000311401.5_Missense_Mutation_p.F356L			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	424	PWWP.				chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|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)		AATACCCCTTCTGGCCAGCAG	0.328																																																	0													64.0	64.0	64.0					19																	1364566		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.1275C>A	19.37:g.1364566C>A	ENSP00000394925:p.Phe425Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.F425L	ENST00000415183.3	37	c.1275		19	.	.	.	.	.	.	.	.	.	.	C	10.39	1.337613	0.24253	.	.	ENSG00000160953	ENST00000344663;ENST00000311401;ENST00000415183	T;T;T	0.69435	-0.4;-0.4;-0.4	4.62	2.29	0.28610	PWWP (1);	0.208487	0.42420	D	0.000702	T	0.67878	0.2940	L	0.46157	1.445	0.32024	N	0.600355	D;D;P;P	0.71674	0.996;0.998;0.675;0.761	P;P;B;B	0.61132	0.884;0.884;0.129;0.284	T	0.69168	-0.5216	9	.	.	.	.	6.3856	0.21559	0.0:0.6381:0.0:0.3619	.	425;425;356;424	B7ZLY8;D6W5Y8;Q2TAK8-2;Q2TAK8	.;.;.;MUM1_HUMAN	L	425;356;425	ENSP00000345789:F425L;ENSP00000309135:F356L;ENSP00000394925:F425L	.	F	+	3	2	MUM1	1315566	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	0.797000	0.26999	0.928000	0.37168	0.563000	0.77884	TTC	MUM1	-	pfam_PWWP		0.328	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	C	NM_032853		1364566	+1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	1.000	A
MYBL2	4605	genome.wustl.edu	37	20	42320836	42320836	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:42320836C>G	ENST00000217026.4	+	6	667	c.540C>G	c.(538-540)atC>atG	p.I180M	MYBL2_ENST00000396863.4_Missense_Mutation_p.I156M	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	180	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTCTACCATCAAAAGGAAGG	0.582																																																	0													93.0	87.0	89.0					20																	42320836		2203	4300	6503	SO:0001583	missense	4605				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.540C>G	20.37:g.42320836C>G	ENSP00000217026:p.Ile180Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I180M	ENST00000217026.4	37	c.540	CCDS13322.1	20	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863199	0.32884	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.15834	2.39;2.42	5.04	5.04	0.67666	Transcription regulator HTH, Myb-type, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.17619	0.0423	N	0.02876	-0.465	0.80722	D	1	B;B	0.33103	0.126;0.397	B;P	0.56916	0.445;0.809	T	0.10064	-1.0646	10	0.02654	T	1	-32.6312	18.0207	0.89253	0.0:1.0:0.0:0.0	.	156;180	F8W6N6;P10244	.;MYBB_HUMAN	M	156;180	ENSP00000380072:I156M;ENSP00000217026:I180M	ENSP00000217026:I180M	I	+	3	3	MYBL2	41754250	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.084000	0.50143	2.707000	0.92482	0.650000	0.86243	ATC	MYBL2	-	superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom		0.582	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	HGNC	protein_coding	OTTHUMT00000080408.1	C	NM_002466		42320836	+1	no_errors	ENST00000217026	ensembl	human	known	70_37	missense	SNP	1.000	G
MYCBP2	23077	genome.wustl.edu	37	13	77633672	77633672	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:77633672C>G	ENST00000544440.2	-	77	13029	c.13012G>C	c.(13012-13014)Gat>Cat	p.D4338H	MYCBP2_ENST00000407578.2_Missense_Mutation_p.D4376H|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D4338H					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAATCTGCATCAGAACAAACA	0.478																																																	0													174.0	150.0	158.0					13																	77633672		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.13012G>C	13.37:g.77633672C>G	ENSP00000444596:p.Asp4338His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D4376H	ENST00000544440.2	37	c.13126		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.545261|4.545261	0.86022|0.86022	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000429715	T;T;T|.	0.31769|.	1.48;1.48;1.48|.	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.68146|.	0.2969|.	L|L	0.47190|0.47190	1.495|1.495	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77557|.	0.99|.	T|.	0.64360|.	-0.6426|.	10|.	0.87932|.	D|.	0|.	.|.	17.252|17.252	0.87045|0.87045	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4338|.	O75592|.	MYCB2_HUMAN|.	H|S	4338;4376;4338|758	ENSP00000349892:D4338H;ENSP00000384288:D4376H;ENSP00000444596:D4338H|.	ENSP00000349892:D4338H|.	D|X	-|-	1|2	0|2	MYCBP2|MYCBP2	76531673|76531673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.290000|7.290000	0.78711|0.78711	2.589000|2.589000	0.87451|0.87451	0.591000|0.591000	0.81541|0.81541	GAT|TGA	MYCBP2	-	NULL		0.478	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77633672	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	G
MYCBP2	23077	genome.wustl.edu	37	13	77754359	77754359	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:77754359C>T	ENST00000544440.2	-	34	4939	c.4922G>A	c.(4921-4923)aGa>aAa	p.R1641K	MYCBP2_ENST00000407578.2_Missense_Mutation_p.R1679K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R1641K|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCATTTTCTCTCCTCAGGCT	0.498																																																	0													181.0	172.0	175.0					13																	77754359		2203	4300	6503	SO:0001583	missense	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4922G>A	13.37:g.77754359C>T	ENSP00000444596:p.Arg1641Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R1679K	ENST00000544440.2	37	c.5036		13	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924738	0.52653	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.27720	1.65;1.65;1.65	5.67	5.67	0.87782	.	0.061053	0.64402	D	0.000006	T	0.15435	0.0372	N	0.03608	-0.345	0.36705	D	0.880354	B	0.02656	0.0	B	0.04013	0.001	T	0.14392	-1.0474	10	0.06494	T	0.89	.	20.1421	0.98061	0.0:1.0:0.0:0.0	.	1641	O75592	MYCB2_HUMAN	K	1641;1679;1641	ENSP00000349892:R1641K;ENSP00000384288:R1679K;ENSP00000444596:R1641K	ENSP00000349892:R1641K	R	-	2	0	MYCBP2	76652360	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.295000	0.59049	2.836000	0.97738	0.655000	0.94253	AGA	MYCBP2	-	superfamily_ARM-type_fold		0.498	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77754359	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	missense	SNP	1.000	T
MYCBP2	23077	genome.wustl.edu	37	13	77754364	77754364	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:77754364C>T	ENST00000544440.2	-	34	4934	c.4917G>A	c.(4915-4917)ctG>ctA	p.L1639L	MYCBP2_ENST00000407578.2_Silent_p.L1677L|MYCBP2_ENST00000357337.6_Silent_p.L1639L|MYCBP2_ENST00000360084.5_5'UTR					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTCTCCTCAGGCTGTTCC	0.493																																																	0													182.0	174.0	176.0					13																	77754364		2203	4300	6503	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.4917G>A	13.37:g.77754364C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L1677	ENST00000544440.2	37	c.5031		13																																																																																			MYCBP2	-	superfamily_ARM-type_fold		0.493	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1	C	NM_015057		77754364	-1	no_errors	ENST00000407578	ensembl	human	known	70_37	silent	SNP	0.971	T
MYH14	79784	genome.wustl.edu	37	19	50781447	50781447	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:50781447G>A	ENST00000596571.1	+	27	3810	c.3810G>A	c.(3808-3810)cgG>cgA	p.R1270R	MYH14_ENST00000440075.2_Silent_p.R1311R|MYH14_ENST00000262269.8_Silent_p.R1311R|MYH14_ENST00000425460.1_Silent_p.R1278R|MYH14_ENST00000376970.2_Silent_p.R1303R|MYH14_ENST00000601313.1_Silent_p.R1311R|MYH14_ENST00000598205.1_Silent_p.R1278R			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1270					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTGAGCAGCGGAGGCGCCGCC	0.692																																																	0													20.0	27.0	24.0					19																	50781447		2070	4196	6266	SO:0001819	synonymous_variant	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3810G>A	19.37:g.50781447G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1311	ENST00000596571.1	37	c.3933	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_tail		0.692	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	G	NM_024729		50781447	+1	no_errors	ENST00000262269	ensembl	human	known	70_37	silent	SNP	0.966	A
MYH3	4621	genome.wustl.edu	37	17	10542717	10542717	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:10542717G>C	ENST00000583535.1	-	24	3087	c.3000C>G	c.(2998-3000)ctC>ctG	p.L1000L	MYH3_ENST00000226209.7_Silent_p.L1000L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1000					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCGCCTCTTGGAGGGCCTTCT	0.433																																																	0													65.0	63.0	64.0					17																	10542717		2203	4300	6503	SO:0001819	synonymous_variant	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.3000C>G	17.37:g.10542717G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15492	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1000	ENST00000583535.1	37	c.3000	CCDS11157.1	17																																																																																			MYH3	-	NULL		0.433	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	G	NM_002470		10542717	-1	no_errors	ENST00000226209	ensembl	human	known	70_37	silent	SNP	0.976	C
MYH7	4625	genome.wustl.edu	37	14	23884243	23884243	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23884243C>G	ENST00000355349.3	-	37	5682	c.5520G>C	c.(5518-5520)atG>atC	p.M1840I	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1840					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGCTCTTCCTCATGCCCTTCA	0.642																																																	0													123.0	122.0	122.0					14																	23884243		2203	4298	6501	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5520G>C	14.37:g.23884243C>G	ENSP00000347507:p.Met1840Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M1840I	ENST00000355349.3	37	c.5520	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594867	0.28445	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.76839	-1.05	5.42	5.42	0.78866	Myosin tail (1);	.	.	.	.	T	0.62624	0.2443	N	0.11560	0.145	0.36874	D	0.889057	B	0.02656	0.0	B	0.09377	0.004	T	0.60796	-0.7192	9	0.32370	T	0.25	.	16.4302	0.83840	0.0:0.8691:0.1309:0.0	.	1840	P12883	MYH7_HUMAN	I	1840;1845	ENSP00000347507:M1840I	ENSP00000347507:M1840I	M	-	3	0	MYH7	22954083	0.983000	0.35010	1.000000	0.80357	0.968000	0.65278	0.441000	0.21611	2.826000	0.97356	0.563000	0.77884	ATG	MYH7	-	pfam_Myosin_tail		0.642	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23884243	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH9	4627	genome.wustl.edu	37	22	36705359	36705359	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:36705359G>A	ENST00000216181.5	-	15	2041	c.1811C>T	c.(1810-1812)tCt>tTt	p.S604F		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	604	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AAACTTGTCAGAGGACTGGTG	0.577			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													208.0	156.0	174.0					22																	36705359		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1811C>T	22.37:g.36705359G>A	ENSP00000216181:p.Ser604Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.S604F	ENST00000216181.5	37	c.1811	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	31	5.071419	0.93950	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.72942	-0.7	4.73	4.73	0.59995	Myosin head, motor domain (2);	0.062797	0.64402	D	0.000004	D	0.82829	0.5122	H	0.97291	3.975	0.80722	D	1	P	0.45396	0.857	B	0.41894	0.369	D	0.89880	0.4029	10	0.87932	D	0	.	17.6762	0.88232	0.0:0.0:1.0:0.0	.	604	P35579	MYH9_HUMAN	F	468;604	ENSP00000216181:S604F	ENSP00000216181:S604F	S	-	2	0	MYH9	35035305	1.000000	0.71417	0.947000	0.38551	0.985000	0.73830	8.016000	0.88706	2.350000	0.79820	0.563000	0.77884	TCT	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.577	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36705359	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	A
MYL12A	10627	genome.wustl.edu	37	18	3253901	3253901	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:3253901G>A	ENST00000217652.3	+	3	591	c.196G>A	c.(196-198)Gat>Aat	p.D66N	RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000580887.1_Missense_Mutation_p.D72N|MYL12A_ENST00000536605.1_Missense_Mutation_p.D66N|MYL12A_ENST00000578611.1_Missense_Mutation_p.D66N|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Missense_Mutation_p.D66N	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	66					platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						GAATCCAACTGATGAGTATCT	0.353																																																	0													72.0	70.0	71.0					18																	3253901		2203	4300	6503	SO:0001583	missense	10627			X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.196G>A	18.37:g.3253901G>A	ENSP00000217652:p.Asp66Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X45	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D66N	ENST00000217652.3	37	c.196	CCDS11830.1	18	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955895	0.53293	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	T;T	0.79940	-1.32;-1.32	5.42	5.42	0.78866	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	L	0.58583	1.82	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.19666	0.026;0.026	T	0.72114	-0.4388	10	0.13108	T	0.6	.	19.4095	0.94665	0.0:0.0:1.0:0.0	.	66;66	Q53X45;P19105	.;ML12A_HUMAN	N	66	ENSP00000217652:D66N;ENSP00000441231:D66N	ENSP00000217652:D66N	D	+	1	0	MYL12A	3243901	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.544000	0.98092	2.817000	0.96982	0.563000	0.77884	GAT	MYL12A	-	NULL		0.353	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL12A	HGNC	protein_coding	OTTHUMT00000254364.2	G	NM_006471		3253901	+1	no_errors	ENST00000217652	ensembl	human	known	70_37	missense	SNP	1.000	A
MYL6B	140465	genome.wustl.edu	37	12	56549364	56549364	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56549364C>G	ENST00000553066.1	+	5	930	c.508C>G	c.(508-510)Ctc>Gtc	p.L170V	MYL6_ENST00000550697.1_5'Flank|MYL6B_ENST00000552568.1_Intron|MYL6_ENST00000549017.1_5'Flank|MYL6B_ENST00000550443.1_Missense_Mutation_p.L170V|MYL6_ENST00000536128.1_5'Flank|MYL6_ENST00000547649.1_5'Flank|MYL6B_ENST00000207437.5_Missense_Mutation_p.L170V|MYL6_ENST00000293422.5_5'Flank|MYL6_ENST00000547408.1_5'Flank|MYL6_ENST00000548400.1_5'Flank|MYL6_ENST00000348108.4_5'Flank|MYL6B_ENST00000550152.1_3'UTR|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000549566.1_5'Flank|MYL6_ENST00000548293.1_5'Flank|MYL6_ENST00000551589.1_5'Flank|MYL6_ENST00000548580.1_5'Flank			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	170	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)	calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CAGACATGTTCTCACCACCCT	0.557																																																	0													123.0	108.0	113.0					12																	56549364		2203	4300	6503	SO:0001583	missense	140465			M31211	CCDS8905.1	12q13.2	2013-01-10	2006-09-29			ENSG00000196465		"""Myosins / Light chain"", ""EF-hand domain containing"""	29823	protein-coding gene	gene with protein product	"""myosin light chain 1 slow a"""	609930	"""myosin, light polypeptide 6B, alkali, smooth muscle and non-muscle"""			2602161, 2304459	Standard	NM_002475		Approved	MLC1SA	uc001sjs.3	P14649		ENST00000553066.1:c.508C>G	12.37:g.56549364C>G	ENSP00000450385:p.Leu170Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L170V	ENST00000553066.1	37	c.508	CCDS8905.1	12	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960457	0.74016	.	.	ENSG00000196465	ENST00000553066;ENST00000550443;ENST00000207437	D;D;D	0.91068	-2.78;-2.78;-2.78	4.85	4.85	0.62838	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	0.987;1.0	D;D	0.91635	0.966;0.999	D	0.97143	0.9826	10	0.87932	D	0	-23.6755	17.2811	0.87128	0.0:1.0:0.0:0.0	.	170;170	B4E368;P14649	.;MYL6B_HUMAN	V	170	ENSP00000450385:L170V;ENSP00000446643:L170V;ENSP00000207437:L170V	ENSP00000207437:L170V	L	+	1	0	MYL6B	54835631	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	5.636000	0.67848	2.710000	0.92621	0.491000	0.48974	CTC	MYL6B	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.557	MYL6B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYL6B	HGNC	protein_coding	OTTHUMT00000407920.2	C	NM_002475		56549364	+1	no_errors	ENST00000207437	ensembl	human	known	70_37	missense	SNP	1.000	G
MYO10	4651	genome.wustl.edu	37	5	16761604	16761604	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:16761604C>T	ENST00000513610.1	-	17	2162	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	570	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGAAGGTCATCTCGAAATGTA	0.358																																																	0													105.0	102.0	103.0					5																	16761604		1845	4099	5944	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1708G>A	5.37:g.16761604C>T	ENSP00000421280:p.Asp570Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.D570N	ENST00000513610.1	37	c.1708	CCDS54834.1	5	.	.	.	.	.	.	.	.	.	.	C	23.2	4.391373	0.83011	.	.	ENSG00000145555	ENST00000513610;ENST00000513882	T;T	0.72051	-0.62;-0.62	5.82	5.82	0.92795	Myosin head, motor domain (2);	.	.	.	.	D	0.83783	0.5329	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.978	T	0.82198	-0.0576	9	0.45353	T	0.12	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	211;570	Q69YP8;Q9HD67	.;MYO10_HUMAN	N	570;581	ENSP00000421280:D570N;ENSP00000421309:D581N	ENSP00000421280:D570N	D	-	1	0	MYO10	16814604	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.763000	0.85283	2.765000	0.95021	0.650000	0.86243	GAT	MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.358	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	C	NM_012334		16761604	-1	no_errors	ENST00000513610	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO16	23026	genome.wustl.edu	37	13	109772765	109772765	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:109772765C>G	ENST00000357550.2	+	28	3461	c.3420C>G	c.(3418-3420)ctC>ctG	p.L1140L	MYO16_ENST00000457511.2_Silent_p.L652L|MYO16_ENST00000356711.2_Silent_p.L1140L	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGACCAACTCAATGATTTGT	0.348																																																	0													124.0	118.0	120.0					13																	109772765		2203	4300	6503	SO:0001819	synonymous_variant	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3420C>G	13.37:g.109772765C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1140	ENST00000357550.2	37	c.3420	CCDS32008.1	13																																																																																			MYO16	-	smart_Myosin_head_motor_dom		0.348	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	C	NM_015011		109772765	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	silent	SNP	0.807	G
MYO1C	4641	genome.wustl.edu	37	17	1377928	1377928	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1377928G>A	ENST00000575158.1	-	17	1844	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	MYO1C_ENST00000361007.2_Silent_p.L556L|MYO1C_ENST00000438665.2_Silent_p.L572L|MYO1C_ENST00000359786.5_Silent_p.L591L|MYO1C_ENST00000545534.2_Silent_p.L567L			Q12965	MYO1E_HUMAN	myosin IC	551	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTGTCACTGAGCTCGCTCC	0.637																																																	0													110.0	109.0	110.0					17																	1377928		2203	4300	6503	SO:0001819	synonymous_variant	4641			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1668C>T	17.37:g.1377928G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14778	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L591	ENST00000575158.1	37	c.1773	CCDS11003.1	17																																																																																			MYO1C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.637	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	G			1377928	-1	no_errors	ENST00000359786	ensembl	human	known	70_37	silent	SNP	1.000	A
MYO1E	4643	genome.wustl.edu	37	15	59553683	59553683	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59553683G>C	ENST00000288235.4	-	3	572	c.173C>G	c.(172-174)tCa>tGa	p.S58*	MYO1E_ENST00000558814.1_Intron	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	58	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGGTTGACTGAGATTAATAC	0.328																																																	0													132.0	127.0	129.0					15																	59553683		2190	4290	6480	SO:0001587	stop_gained	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.173C>G	15.37:g.59553683G>C	ENSP00000288235:p.Ser58*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14778	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.S58*	ENST00000288235.4	37	c.173	CCDS32254.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.260680	0.97421	.	.	ENSG00000157483	ENST00000288235	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000288235:S58X	S	-	2	0	MYO1E	57340975	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.467000	0.97671	2.802000	0.96397	0.563000	0.77884	TCA	MYO1E	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.328	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	HGNC	protein_coding	OTTHUMT00000416024.1	G	NM_004998		59553683	-1	no_errors	ENST00000288235	ensembl	human	known	70_37	nonsense	SNP	1.000	C
MYO9A	4649	genome.wustl.edu	37	15	72142438	72142438	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72142438G>C	ENST00000356056.5	-	38	7124	c.6652C>G	c.(6652-6654)Ctc>Gtc	p.L2218V	MYO9A_ENST00000444904.1_Missense_Mutation_p.L2199V|MYO9A_ENST00000564571.1_Missense_Mutation_p.L2218V|MYO9A_ENST00000424560.1_Missense_Mutation_p.L2289V	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2218	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.|Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGCAGCGGAGAATGCAGGGC	0.448																																																	0													270.0	219.0	236.0					15																	72142438		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.6652C>G	15.37:g.72142438G>C	ENSP00000348349:p.Leu2218Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L2289V	ENST00000356056.5	37	c.6865	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923115	0.73213	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	T;T;T	0.23552	1.9;1.9;1.9	5.93	5.93	0.95920	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.	.	.	.	T	0.54351	0.1853	M	0.72118	2.19	0.80722	D	1	B;D	0.89917	0.083;1.0	B;D	0.83275	0.097;0.996	T	0.53187	-0.8474	9	0.87932	D	0	.	20.3422	0.98769	0.0:0.0:1.0:0.0	.	2218;1982	B2RTY4;B2RTY4-5	MYO9A_HUMAN;.	V	2218;2289;2199	ENSP00000348349:L2218V;ENSP00000399162:L2289V;ENSP00000398250:L2199V	ENSP00000348349:L2218V	L	-	1	0	MYO9A	69929492	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.810000	0.96702	0.655000	0.94253	CTC	MYO9A	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.448	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72142438	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO9A	4649	genome.wustl.edu	37	15	72311419	72311419	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72311419G>C	ENST00000356056.5	-	6	1588	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	MYO9A_ENST00000444904.1_Intron|MYO9A_ENST00000564571.1_Silent_p.L372L|MYO9A_ENST00000424560.1_Silent_p.L372L|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000563542.1_Intron|MYO9A_ENST00000566885.1_Intron	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	372	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCTCTGTCTGAGGGGTTTCT	0.398																																																	0													139.0	135.0	136.0					15																	72311419		2199	4297	6496	SO:0001819	synonymous_variant	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.1116C>G	15.37:g.72311419G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.L372	ENST00000356056.5	37	c.1116	CCDS10239.1	15																																																																																			MYO9A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.398	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	G	NM_006901		72311419	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	silent	SNP	1.000	C
MYRIP	25924	genome.wustl.edu	37	3	40286041	40286041	+	Silent	SNP	G	G	A	rs201745391		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:40286041G>A	ENST00000302541.6	+	13	2547	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	MYRIP_ENST00000444716.1_Silent_p.A735A|MYRIP_ENST00000425621.1_Silent_p.A670A|MYRIP_ENST00000396217.3_Silent_p.A646A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.A548A	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	735	Actin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.A735A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CCCATCTGGCGGATCTGGAGG	0.607																																																	2	Substitution - coding silent(2)	ovary(1)|skin(1)						G		0,4406		0,0,2203	60.0	56.0	57.0		2205	-11.1	0.3	3		57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYRIP	NM_015460.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		735/860	40286041	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.2205G>A	3.37:g.40286041G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.A735	ENST00000302541.6	37	c.2205	CCDS2689.1	3																																																																																			MYRIP	-	pfam_Myrip/Melanophilin		0.607	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	G	NM_015460		40286041	+1	no_errors	ENST00000302541	ensembl	human	known	70_37	silent	SNP	0.587	A
MYT1	4661	genome.wustl.edu	37	20	62854649	62854649	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:62854649C>T	ENST00000328439.1	+	16	2829	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.S849F	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCAGCCTCTCTGGTTGCCCT	0.567																																					GBM(59;481 1041 20555 21139 33705)												0													282.0	296.0	292.0					20																	62854649		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2465C>T	20.37:g.62854649C>T	ENSP00000327465:p.Ser822Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S849F	ENST00000328439.1	37	c.2546	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779852	0.49891	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.53857	0.62;0.6	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64091	0.2567	M	0.72118	2.19	0.80722	D	1	B;B	0.29671	0.015;0.254	B;B	0.41202	0.014;0.35	T	0.66320	-0.5953	10	0.66056	D	0.02	-15.5639	18.9383	0.92595	0.0:1.0:0.0:0.0	.	849;822	F5H7M8;Q01538	.;MYT1_HUMAN	F	822;849	ENSP00000327465:S822F;ENSP00000442412:S849F	ENSP00000327465:S822F	S	+	2	0	MYT1	62325093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.673000	0.83973	2.463000	0.83235	0.655000	0.94253	TCT	MYT1	-	pfam_Znf_C2HC		0.567	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	C	NM_004535		62854649	+1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	1.000	T
MYT1L	23040	genome.wustl.edu	37	2	1820470	1820470	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:1820470C>T	ENST00000399161.2	-	22	3828				MYT1L_ENST00000428368.2_Intron|MYT1L_ENST00000407844.1_Intron|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GAAACCCCGTCACCCATGTTC	0.577																																																	0																																										SO:0001627	intron_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3081-7531G>A	2.37:g.1820470C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			MYT1L	-	-		0.577	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1820470	-1	no_errors	ENST00000471668	ensembl	human	known	70_37	rna	SNP	0.000	T
MZF1	7593	genome.wustl.edu	37	19	59074503	59074503	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:59074503C>T	ENST00000215057.2	-	6	1701	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E381K|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	381					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		AATGGTCGCTCACCCGTGTGG	0.657																																																	0													27.0	23.0	24.0					19																	59074503		2197	4293	6490	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1141G>A	19.37:g.59074503C>T	ENSP00000215057:p.Glu381Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E381K	ENST00000215057.2	37	c.1141	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	17.61	3.432718	0.62844	.	.	ENSG00000099326	ENST00000215057	T	0.24350	1.86	3.6	2.57	0.30868	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.273212	0.20187	N	0.097400	T	0.24736	0.0600	L	0.55990	1.75	0.32745	N	0.50712	P	0.42123	0.771	B	0.43536	0.423	T	0.36962	-0.9726	10	0.87932	D	0	-12.479	4.9088	0.13811	0.0:0.6594:0.221:0.1196	.	381	P28698	MZF1_HUMAN	K	381	ENSP00000215057:E381K	ENSP00000215057:E381K	E	-	1	0	MZF1	63766315	0.350000	0.24878	0.757000	0.31301	0.583000	0.36354	1.640000	0.37186	1.091000	0.41335	0.467000	0.42956	GAG	MZF1	-	pfscan_Znf_C2H2		0.657	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	C	NM_198055		59074503	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.984	T
MZF1	7593	genome.wustl.edu	37	19	59082462	59082462	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:59082462C>G	ENST00000215057.2	-	2	855	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.E99Q|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_Missense_Mutation_p.E99Q|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594108.1_Missense_Mutation_p.E99Q	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	99	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTGGATCTCAGGGGGCAGT	0.697																																																	0													21.0	20.0	20.0					19																	59082462		2199	4291	6490	SO:0001583	missense	7593			M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.295G>C	19.37:g.59082462C>G	ENSP00000215057:p.Glu99Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E99Q	ENST00000215057.2	37	c.295	CCDS12988.1	19	.	.	.	.	.	.	.	.	.	.	.	15.25	2.777921	0.49786	.	.	ENSG00000099326	ENST00000215057	T	0.08370	3.1	4.35	3.32	0.38043	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.38272	N	0.001757	T	0.30070	0.0753	M	0.92459	3.31	0.31181	N	0.702037	D;B	0.76494	0.999;0.45	D;B	0.65323	0.934;0.247	T	0.40478	-0.9561	9	.	.	.	-25.1212	6.7486	0.23475	0.0:0.7907:0.0:0.2093	.	99;99	Q7Z729;P28698	.;MZF1_HUMAN	Q	99	ENSP00000215057:E99Q	.	E	-	1	0	MZF1	63774274	0.000000	0.05858	0.971000	0.41717	0.548000	0.35241	0.237000	0.17985	1.189000	0.43028	0.563000	0.77884	GAG	MZF1	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.697	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MZF1	HGNC	protein_coding	OTTHUMT00000467112.1	C	NM_198055		59082462	-1	no_errors	ENST00000215057	ensembl	human	known	70_37	missense	SNP	0.613	G
N4BP2	55728	genome.wustl.edu	37	4	40122816	40122816	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:40122816G>C	ENST00000261435.6	+	9	3501	c.3085G>C	c.(3085-3087)Gaa>Caa	p.E1029Q		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1029					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATGGAAAATAGAAAAGAATAA	0.353																																																	0													39.0	42.0	41.0					4																	40122816		2202	4299	6501	SO:0001583	missense	55728			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.3085G>C	4.37:g.40122816G>C	ENSP00000261435:p.Glu1029Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.E1029Q	ENST00000261435.6	37	c.3085	CCDS3457.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.563302|3.563302	0.65538|0.65538	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.23147|.	1.92|.	6.04|6.04	5.2|5.2	0.72013|0.72013	.|.	0.318283|.	0.32884|.	N|.	0.005530|.	T|T	0.66366|0.66366	0.2782|0.2782	M|M	0.61703|0.61703	1.905|1.905	0.33454|0.33454	D|D	0.58401|0.58401	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.75484|.	0.986;0.968|.	T|T	0.75147|0.75147	-0.3420|-0.3420	10|5	0.72032|.	D|.	0.01|.	-14.6539|-14.6539	15.0869|15.0869	0.72162|0.72162	0.0673:0.0:0.9327:0.0|0.0673:0.0:0.9327:0.0	.|.	1029;1029|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	Q|T	1029;949|675	ENSP00000261435:E1029Q|.	ENSP00000261435:E1029Q|.	E|R	+|+	1|2	0|0	N4BP2|N4BP2	39799211|39799211	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.105000|5.105000	0.64591|0.64591	1.571000|1.571000	0.49722|0.49722	0.563000|0.563000	0.77884|0.77884	GAA|AGA	N4BP2	-	NULL		0.353	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	G	NM_018177		40122816	+1	no_errors	ENST00000261435	ensembl	human	known	70_37	missense	SNP	1.000	C
NACA	4666	genome.wustl.edu	37	12	57114446	57114446	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57114446G>C	ENST00000454682.1	-	3	1149	c.868C>G	c.(868-870)Caa>Gaa	p.Q290E	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.Q290E|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	290	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCAGTCTTTTGAGAAGAGGTC	0.498			T	BCL6	NHL																																			Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													68.0	66.0	67.0					12																	57114446		1568	3582	5150	SO:0001583	missense	4666			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.868C>G	12.37:g.57114446G>C	ENSP00000403817:p.Gln290Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.Q290E	ENST00000454682.1	37	c.868		12	.	.	.	.	.	.	.	.	.	.	g	11.82	1.751817	0.31046	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.56103	0.48;0.84	2.96	1.91	0.25777	.	.	.	.	.	T	0.25494	0.0620	N	0.08118	0	0.09310	N	1	P;B	0.36222	0.544;0.334	B;B	0.23716	0.048;0.029	T	0.11743	-1.0575	9	0.72032	D	0.01	.	6.5442	0.22397	0.0:0.0:0.7136:0.2864	.	290;290	E9PAV3;F8VU71	.;.	E	290	ENSP00000403817:Q290E;ENSP00000448035:Q290E	ENSP00000403817:Q290E	Q	-	1	0	NACA	55400713	0.152000	0.22762	0.171000	0.22900	0.270000	0.26580	1.270000	0.33086	1.375000	0.46248	0.282000	0.19409	CAA	NACA	-	NULL		0.498	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		G	NM_005594		57114446	-1	no_errors	ENST00000454682	ensembl	human	known	70_37	missense	SNP	0.109	C
NAT10	55226	genome.wustl.edu	37	11	34156767	34156767	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:34156767G>A	ENST00000257829.3	+	19	2163	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	NAT10_ENST00000531159.2_Missense_Mutation_p.E581K|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	653	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GATGTACTATGAAGGCAGGTT	0.532																																																	0													141.0	124.0	130.0					11																	34156767		2202	4298	6500	SO:0001583	missense	55226			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1957G>A	11.37:g.34156767G>A	ENSP00000257829:p.Glu653Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.E653K	ENST00000257829.3	37	c.1957	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009965	0.75046	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.32753	1.44;1.44	5.8	3.9	0.45041	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.088945	0.85682	N	0.000000	T	0.36771	0.0979	M	0.79614	2.46	0.80722	D	1	P	0.38148	0.62	B	0.39465	0.3	T	0.16897	-1.0387	10	0.44086	T	0.13	-15.4389	11.3508	0.49587	0.0678:0.1275:0.8046:0.0	.	653	Q9H0A0	NAT10_HUMAN	K	653;581	ENSP00000257829:E653K;ENSP00000433011:E581K	ENSP00000257829:E653K	E	+	1	0	NAT10	34113343	1.000000	0.71417	0.504000	0.27639	0.906000	0.53458	6.276000	0.72601	0.781000	0.33589	0.561000	0.74099	GAA	NAT10	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.532	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	G	NM_024662		34156767	+1	no_errors	ENST00000257829	ensembl	human	known	70_37	missense	SNP	0.997	A
NADSYN1	55191	genome.wustl.edu	37	11	71174494	71174494	+	Missense_Mutation	SNP	A	A	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:71174494A>T	ENST00000319023.2	+	4	468	c.280A>T	c.(280-282)Aac>Tac	p.N94Y		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	94	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AATGCACCGAAACGTCCGCTA	0.607																																					Ovarian(79;763 1781 6490 50276)												0													118.0	88.0	98.0					11																	71174494		2200	4294	6494	SO:0001583	missense	55191			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.280A>T	11.37:g.71174494A>T	ENSP00000326424:p.Asn94Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.N94Y	ENST00000319023.2	37	c.280	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	A	16.60	3.168442	0.57584	.	.	ENSG00000172890	ENST00000319023	D	0.85955	-2.05	5.06	3.94	0.45596	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.103426	0.64402	D	0.000006	D	0.91781	0.7400	M	0.87180	2.865	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.91205	0.4994	10	0.62326	D	0.03	-20.0978	9.1159	0.36758	0.9115:0.0:0.0885:0.0	.	94	Q6IA69	NADE_HUMAN	Y	94	ENSP00000326424:N94Y	ENSP00000326424:N94Y	N	+	1	0	NADSYN1	70852142	1.000000	0.71417	0.290000	0.24890	0.561000	0.35649	4.992000	0.63889	0.887000	0.36136	0.533000	0.62120	AAC	NADSYN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase		0.607	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	A	NM_018161		71174494	+1	no_errors	ENST00000319023	ensembl	human	known	70_37	missense	SNP	0.951	T
NAT2	10	genome.wustl.edu	37	8	18258175	18258175	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:18258175C>T	ENST00000286479.3	+	2	769	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NAT2_ENST00000520116.1_Missense_Mutation_p.S91L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	221					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	ATAACCACATCATTTTGTTCC	0.373									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													82.0	86.0	85.0					8																	18258175		2203	4300	6503	SO:0001583	missense	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.662C>T	8.37:g.18258175C>T	ENSP00000286479:p.Ser221Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.S221L	ENST00000286479.3	37	c.662	CCDS6008.1	8	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894550	0.33442	.	.	ENSG00000156006	ENST00000286479;ENST00000520116	T;T	0.01406	4.93;4.93	2.67	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.04907	0.0132	L	0.55743	1.74	0.31179	N	0.702326	D	0.89917	1.0	D	0.97110	1.0	T	0.02263	-1.1186	10	0.54805	T	0.06	.	8.9901	0.36019	0.0:1.0:0.0:0.0	.	221	A4Z6T7	.	L	221;91	ENSP00000286479:S221L;ENSP00000428416:S91L	ENSP00000286479:S221L	S	+	2	0	NAT2	18302455	1.000000	0.71417	0.022000	0.16811	0.104000	0.19210	6.172000	0.71932	1.792000	0.52537	0.436000	0.28706	TCA	NAT2	-	pfam_Arylamine_N-AcTrfase		0.373	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT2	HGNC	protein_coding	OTTHUMT00000253380.1	C	NM_000015		18258175	+1	no_errors	ENST00000286479	ensembl	human	known	70_37	missense	SNP	0.495	T
NAV1	89796	genome.wustl.edu	37	1	201750173	201750173	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201750173G>A	ENST00000367296.4	+	5	1819	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.E467K|NAV1_ENST00000367297.4_Missense_Mutation_p.E467K|NAV1_ENST00000367302.1_Missense_Mutation_p.E480K|NAV1_ENST00000295624.6_Missense_Mutation_p.E467K|NAV1_ENST00000367295.1_Missense_Mutation_p.E76K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	467					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCACTGGCAGAAAGTGGGCT	0.483																																																	0													64.0	70.0	68.0					1																	201750173		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1399G>A	1.37:g.201750173G>A	ENSP00000356265:p.Glu467Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.E467K	ENST00000367296.4	37	c.1399	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.519283|5.519283	0.96416|0.96416	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295|ENST00000430015	T;T;T;T;T;T|.	0.35605|.	1.3;1.3;1.3;1.3;1.3;1.3|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.049246|.	0.85682|.	D|.	0.000000|.	T|T	0.71476|0.71476	0.3344|0.3344	L|L	0.52126|0.52126	1.63|1.63	0.50632|0.50632	D|D	0.999889|0.999889	D;D;D|.	0.69078|.	0.997;0.97;0.988|.	D;P;P|.	0.64144|.	0.922;0.79;0.778|.	T|T	0.66040|0.66040	-0.6022|-0.6022	10|5	0.87932|.	D|.	0|.	-24.5835|-24.5835	19.8545|19.8545	0.96752|0.96752	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	76;467;467|.	Q8NEY1-5;Q8NEY1;Q8NEY1-3|.	.;NAV1_HUMAN;.|.	K|K	480;467;467;467;467;76|24	ENSP00000356271:E480K;ENSP00000356265:E467K;ENSP00000295624:E467K;ENSP00000356266:E467K;ENSP00000356269:E467K;ENSP00000356264:E76K|.	ENSP00000295624:E467K|.	E|R	+|+	1|2	0|0	NAV1|NAV1	200016796|200016796	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.914000|7.914000	0.87478|0.87478	2.774000|2.774000	0.95407|0.95407	0.655000|0.655000	0.94253|0.94253	GAA|AGA	NAV1	-	NULL		0.483	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201750173	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A
NAV1	89796	genome.wustl.edu	37	1	201752765	201752765	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201752765G>C	ENST00000367296.4	+	7	3009	c.2589G>C	c.(2587-2589)atG>atC	p.M863I	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.M863I|NAV1_ENST00000367297.4_Missense_Mutation_p.M863I|NAV1_ENST00000367302.1_Missense_Mutation_p.M876I|NAV1_ENST00000295624.6_Missense_Mutation_p.M863I|NAV1_ENST00000367295.1_Missense_Mutation_p.M472I|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	863					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGAGCTAATGAGTGGTTTCA	0.587																																																	0													91.0	94.0	93.0					1																	201752765		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2589G>C	1.37:g.201752765G>C	ENSP00000356265:p.Met863Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.M863I	ENST00000367296.4	37	c.2589	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.35|14.35	2.508288|2.508288	0.44660|0.44660	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.06449	.|3.3;3.31;3.31;3.31;3.3;3.32	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	.|0.233971	.|0.40908	.|D	.|0.000993	T|T	0.10208|0.10208	0.0250|0.0250	N|N	0.19112|0.19112	0.55|0.55	0.29893|0.29893	N|N	0.825076|0.825076	.|P;P;B;P;P	.|0.44281	.|0.802;0.497;0.257;0.831;0.73	.|B;B;B;P;B	.|0.54664	.|0.33;0.16;0.103;0.758;0.35	T|T	0.01810|0.01810	-1.1269|-1.1269	5|10	.|0.54805	.|T	.|0.06	-32.8706|-32.8706	13.0247|13.0247	0.58808|0.58808	0.0:0.0:0.8385:0.1615|0.0:0.0:0.8385:0.1615	.|.	.|863;472;863;371;863	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	Q|I	421|876;863;863;863;863;371;472	.|ENSP00000356271:M876I;ENSP00000356265:M863I;ENSP00000295624:M863I;ENSP00000356266:M863I;ENSP00000356269:M863I;ENSP00000356264:M472I	.|ENSP00000295624:M863I	E|M	+|+	1|3	0|0	NAV1|NAV1	200019388|200019388	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.965000|0.965000	0.64279|0.64279	4.382000|4.382000	0.59594|0.59594	2.403000|2.403000	0.81681|0.81681	0.404000|0.404000	0.27445|0.27445	GAG|ATG	NAV1	-	NULL		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201752765	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	0.995	C
NAV1	89796	genome.wustl.edu	37	1	201752930	201752930	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201752930G>C	ENST00000367296.4	+	7	3174	c.2754G>C	c.(2752-2754)gaG>gaC	p.E918D	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.E918D|NAV1_ENST00000367297.4_Missense_Mutation_p.E918D|NAV1_ENST00000367302.1_Missense_Mutation_p.E931D|NAV1_ENST00000295624.6_Missense_Mutation_p.E918D|NAV1_ENST00000367295.1_Missense_Mutation_p.E527D|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	918					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAGAAGAAGAGACGGAAGAGC	0.612																																																	0													46.0	49.0	48.0					1																	201752930		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.2754G>C	1.37:g.201752930G>C	ENSP00000356265:p.Glu918Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.E918D	ENST00000367296.4	37	c.2754	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.952|7.952	0.745074|0.745074	0.15710|0.15710	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	.|T;T;T;T;T;T	.|0.07327	.|3.2;3.21;3.21;3.21;3.21;3.21	5.53|5.53	-1.56|-1.56	0.08532|0.08532	.|.	.|0.646641	.|0.15936	.|N	.|0.237459	T|T	0.05181|0.05181	0.0138|0.0138	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;B	.|0.06786	.|0.001;0.001;0.0;0.001;0.0	.|B;B;B;B;B	.|0.10450	.|0.003;0.003;0.001;0.005;0.001	T|T	0.43180|0.43180	-0.9407|-0.9407	5|10	.|0.17832	.|T	.|0.49	-15.0691|-15.0691	6.5737|6.5737	0.22553|0.22553	0.2998:0.2355:0.4647:0.0|0.2998:0.2355:0.4647:0.0	.|.	.|918;527;918;426;918	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	H|D	476|931;918;918;918;918;426;527	.|ENSP00000356271:E931D;ENSP00000356265:E918D;ENSP00000295624:E918D;ENSP00000356266:E918D;ENSP00000356269:E918D;ENSP00000356264:E527D	.|ENSP00000295624:E918D	D|E	+|+	1|3	0|2	NAV1|NAV1	200019553|200019553	0.004000|0.004000	0.15560|0.15560	0.031000|0.031000	0.17742|0.17742	0.970000|0.970000	0.65996|0.65996	-0.129000|-0.129000	0.10515|0.10515	-0.165000|-0.165000	0.10908|0.10908	0.460000|0.460000	0.39030|0.39030	GAC|GAG	NAV1	-	NULL		0.612	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201752930	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	0.039	C
NAV1	89796	genome.wustl.edu	37	1	201789016	201789016	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201789016G>A	ENST00000367296.4	+	30	6010	c.5590G>A	c.(5590-5592)Gat>Aat	p.D1864N	IPO9-AS1_ENST00000413035.1_RNA|IPO9-AS1_ENST00000421449.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.D1804N|IPO9-AS1_ENST00000421159.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.D1856N|NAV1_ENST00000367302.1_Missense_Mutation_p.D1817N|NAV1_ENST00000295624.6_Missense_Mutation_p.D1861N|NAV1_ENST00000367295.1_Missense_Mutation_p.D1470N	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1864					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGAGTCTCCAGATCGAGAAAC	0.507																																																	0													128.0	110.0	116.0					1																	201789016		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.5590G>A	1.37:g.201789016G>A	ENSP00000356265:p.Asp1864Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.D1864N	ENST00000367296.4	37	c.5590	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	36	5.602495	0.96614	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295;ENST00000367301	T;T;T;T;T;T	0.08634	3.13;3.07;3.07;3.07;3.13;3.08	5.81	5.81	0.92471	.	0.052871	0.64402	D	0.000001	T	0.17619	0.0423	L	0.33485	1.01	0.58432	D	0.999999	D;D	0.59767	0.986;0.986	P;P	0.56398	0.797;0.797	T	0.00127	-1.2019	10	0.66056	D	0.02	-26.3511	19.6732	0.95918	0.0:0.0:1.0:0.0	.	1470;1861	Q8NEY1-5;Q8NEY1-3	.;.	N	1817;1864;1861;1856;1804;1470;247	ENSP00000356271:D1817N;ENSP00000356265:D1864N;ENSP00000295624:D1861N;ENSP00000356266:D1856N;ENSP00000356269:D1804N;ENSP00000356264:D1470N	ENSP00000295624:D1861N	D	+	1	0	NAV1	200055639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.419000	0.97397	2.745000	0.94114	0.655000	0.94253	GAT	NAV1	-	NULL		0.507	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	G	NM_020443		201789016	+1	no_errors	ENST00000367296	ensembl	human	known	70_37	missense	SNP	1.000	A
NAV3	89795	genome.wustl.edu	37	12	78401166	78401166	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:78401166C>T	ENST00000397909.2	+	8	2021	c.1848C>T	c.(1846-1848)ctC>ctT	p.L616L	NAV3_ENST00000536525.2_Silent_p.L616L|NAV3_ENST00000228327.6_Silent_p.L616L|NAV3_ENST00000266692.7_Silent_p.L616L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	616						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGTCCAACTCCCTCAACAGC	0.498										HNSCC(70;0.22)																																							0													134.0	133.0	133.0					12																	78401166		2104	4217	6321	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1848C>T	12.37:g.78401166C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Silent	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.L616	ENST00000397909.2	37	c.1848		12																																																																																			NAV3	-	NULL		0.498	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	C	NM_001024383		78401166	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	silent	SNP	0.990	T
NBEA	26960	genome.wustl.edu	37	13	35770151	35770151	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:35770151C>A	ENST00000400445.3	+	31	5612	c.5078C>A	c.(5077-5079)aCa>aAa	p.T1693K	NBEA_ENST00000540320.1_Missense_Mutation_p.T1693K|NBEA_ENST00000310336.4_Missense_Mutation_p.T1693K|NBEA_ENST00000379939.2_Missense_Mutation_p.T1690K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1693					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAATTAGAAACAAGTACAGGC	0.433																																																	0													77.0	76.0	76.0					13																	35770151		1904	4130	6034	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5078C>A	13.37:g.35770151C>A	ENSP00000383295:p.Thr1693Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.T1693K	ENST00000400445.3	37	c.5078	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505772	0.26949	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.50813	0.74;0.73;0.73;0.74	5.98	5.08	0.68730	.	0.692322	0.15249	N	0.272434	T	0.38665	0.1049	L	0.40543	1.245	0.31163	N	0.704124	B;B	0.23540	0.04;0.087	B;B	0.21546	0.016;0.035	T	0.25363	-1.0134	10	0.08381	T	0.77	.	16.0243	0.80532	0.135:0.865:0.0:0.0	.	1693;1690	Q8NFP9;Q5T321	NBEA_HUMAN;.	K	1693;1693;1690;1693;320	ENSP00000440951:T1693K;ENSP00000383295:T1693K;ENSP00000369271:T1690K;ENSP00000308534:T1693K	ENSP00000308534:T1693K	T	+	2	0	NBEA	34668151	0.020000	0.18652	0.010000	0.14722	0.898000	0.52572	2.782000	0.47758	2.843000	0.97960	0.585000	0.79938	ACA	NBEA	-	NULL		0.433	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		35770151	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	0.026	A
NCAPH2	29781	genome.wustl.edu	37	22	50959393	50959393	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50959393G>C	ENST00000420993.2	+	10	983		c.e10-1		NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000520297.1_Splice_Site|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Splice_Site	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TGTCTTTGCAGAGTGCTGCCC	0.617																																																	0													40.0	38.0	39.0					22																	50959393		2055	3945	6000	SO:0001630	splice_region_variant	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.862-1G>C	22.37:g.50959393G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	-	e10-1	ENST00000420993.2	37	c.862-1	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797207	0.31777	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9114	0.58182	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH2	49306259	1.000000	0.71417	0.933000	0.37362	0.022000	0.10575	4.964000	0.63701	2.298000	0.77334	0.484000	0.47621	.	NCAPH2	-	-		0.617	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299	Intron	50959393	+1	no_errors	ENST00000299821	ensembl	human	known	70_37	splice_site	SNP	0.993	C
NCF4	4689	genome.wustl.edu	37	22	37273686	37273686	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:37273686G>C	ENST00000248899.6	+	10	1025	c.841G>C	c.(841-843)Gag>Cag	p.E281Q	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	281	OPR.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GTTCCAGAGAGAGGACATAGC	0.577																																																	0													58.0	59.0	59.0					22																	37273686		2203	4300	6503	SO:0001583	missense	4689			X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.841G>C	22.37:g.37273686G>C	ENSP00000248899:p.Glu281Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	pfam_Phox,pfam_OPR_PB1,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,smart_OPR_PB1,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox	p.E281Q	ENST00000248899.6	37	c.841	CCDS13934.1	22	.	.	.	.	.	.	.	.	.	.	G	9.325	1.059146	0.19987	.	.	ENSG00000100365	ENST00000248899	T	0.44482	0.92	5.44	4.36	0.52297	Phox/Bem1p (2);	.	.	.	.	T	0.35248	0.0925	L	0.52364	1.645	0.23598	N	0.997328	P	0.34934	0.476	B	0.38194	0.267	T	0.17167	-1.0378	9	0.20519	T	0.43	.	5.6968	0.17861	0.1607:0.1976:0.6417:0.0	.	281	Q15080	NCF4_HUMAN	Q	281	ENSP00000248899:E281Q	ENSP00000248899:E281Q	E	+	1	0	NCF4	35603632	0.995000	0.38212	0.999000	0.59377	0.499000	0.33736	2.030000	0.41108	2.556000	0.86216	0.650000	0.86243	GAG	NCF4	-	pfam_OPR_PB1,smart_OPR_PB1		0.577	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF4	HGNC	protein_coding	OTTHUMT00000318863.1	G	NM_000631		37273686	+1	no_errors	ENST00000248899	ensembl	human	known	70_37	missense	SNP	0.361	C
NCAPH2	29781	genome.wustl.edu	37	22	50960969	50960969	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50960969G>A	ENST00000420993.2	+	16	1468	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E	NCAPH2_ENST00000299821.11_Missense_Mutation_p.G450E|CTA-384D8.36_ENST00000608319.1_RNA|NCAPH2_ENST00000395701.3_Missense_Mutation_p.G449E	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	449					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GAGCCCGAGGGAGCAGACCCC	0.652																																																	0													54.0	66.0	62.0					22																	50960969		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1346G>A	22.37:g.50960969G>A	ENSP00000410088:p.Gly449Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.G450E	ENST00000420993.2	37	c.1349	CCDS14094.2	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.187|1.187	-0.636396|-0.636396	0.03557|0.03557	.|.	.|.	ENSG00000025770|ENSG00000025770	ENST00000522304|ENST00000420993;ENST00000395701;ENST00000299821	.|.	.|.	.|.	5.19|5.19	-0.205|-0.205	0.13196|0.13196	.|.	.|0.870158	.|0.09930	.|N	.|0.737338	T|T	0.18718|0.18718	0.0449|0.0449	L|L	0.35723|0.35723	1.085|1.085	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.003;0.006;0.004	.|B;B;B	.|0.16289	.|0.006;0.015;0.011	T|T	0.32824|0.32824	-0.9892|-0.9892	5|9	.|0.02654	.|T	.|1	-10.1361|-10.1361	1.6912|1.6912	0.02853|0.02853	0.2082:0.1539:0.4806:0.1573|0.2082:0.1539:0.4806:0.1573	.|.	.|450;427;449	.|Q6IBW4-4;Q6IBW4-2;Q6IBW4	.|.;.;CNDH2_HUMAN	K|E	6|449;449;450	.|.	.|ENSP00000299821:G450E	E|G	+|+	1|2	0|0	NCAPH2|NCAPH2	49307835|49307835	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.099000|0.099000	0.15210|0.15210	0.474000|0.474000	0.27392|0.27392	0.655000|0.655000	0.94253|0.94253	GAG|GGA	NCAPH2	-	pfam_Condensin_II_H2-like		0.652	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50960969	+1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.000	A
CELSR3	1951	genome.wustl.edu	37	3	48701492	48701492	+	5'Flank	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48701492C>T	ENST00000164024.4	-	0	0				CELSR3_ENST00000544264.1_5'Flank|RP11-148G20.1_ENST00000421275.1_RNA|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.E681K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3						axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGCGGCTCCCGCGATGGG	0.652											OREG0015562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													12.0	13.0	12.0					3																	48701492		873	1989	2862	SO:0001631	upstream_gene_variant	51517			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544		3.37:g.48701492C>T	Exception_encountered	Somatic	956	WXS	Illumina HiSeq	Phase_IV	O75092	Missense_Mutation	SNP	pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E681K	ENST00000164024.4	37	c.2041	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	C	14.65	2.598943	0.46318	.	.	ENSG00000213672	ENST00000341520	T	0.48836	0.8	3.62	1.75	0.24633	.	0.000000	0.85682	U	0.000000	T	0.31949	0.0813	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14531	-1.0469	7	0.21540	T	0.41	.	6.2819	0.21011	0.2142:0.5785:0.2073:0.0	.	.	.	.	K	681	ENSP00000342621:E681K	ENSP00000342621:E681K	E	-	1	0	NCKIPSD	48676496	0.102000	0.21896	0.003000	0.11579	0.008000	0.06430	1.203000	0.32284	0.468000	0.27243	-0.175000	0.13238	GAG	NCKIPSD	-	NULL		0.652	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKIPSD	HGNC	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48701492	-1	no_errors	ENST00000341520	ensembl	human	known	70_37	missense	SNP	0.005	T
NCOA6	23054	genome.wustl.edu	37	20	33328287	33328287	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:33328287C>T	ENST00000374796.2	-	12	8343	c.5773G>A	c.(5773-5775)Gag>Aag	p.E1925K	NCOA6_ENST00000359003.2_Missense_Mutation_p.E1925K			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1925	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GAGATGAGCTCGGAGGGTACC	0.602																																																	0													57.0	50.0	52.0					20																	33328287		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5773G>A	20.37:g.33328287C>T	ENSP00000363929:p.Glu1925Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.E1925K	ENST00000374796.2	37	c.5773	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833540	0.91036	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25414	1.8;1.8	5.51	5.51	0.81932	.	0.093830	0.46442	D	0.000295	T	0.18087	0.0434	N	0.24115	0.695	0.40324	D	0.978851	P	0.47253	0.892	B	0.35859	0.212	T	0.02942	-1.1091	10	0.48119	T	0.1	-9.2363	17.783	0.88529	0.0:1.0:0.0:0.0	.	1925	Q14686	NCOA6_HUMAN	K	1925	ENSP00000363929:E1925K;ENSP00000351894:E1925K	ENSP00000351894:E1925K	E	-	1	0	NCOA6	32791948	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.828000	0.62730	2.873000	0.98535	0.561000	0.74099	GAG	NCOA6	-	NULL		0.602	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	C	NM_014071		33328287	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	1.000	T
NCOA6	23054	genome.wustl.edu	37	20	33337504	33337504	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:33337504G>A	ENST00000374796.2	-	10	5064	c.2494C>T	c.(2494-2496)Cat>Tat	p.H832Y	NCOA6_ENST00000359003.2_Missense_Mutation_p.H832Y			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	832	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCCTGCACATGAGGGGGGACC	0.493																																																	0													119.0	110.0	113.0					20																	33337504		2203	4300	6503	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.2494C>T	20.37:g.33337504G>A	ENSP00000363929:p.His832Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.H832Y	ENST00000374796.2	37	c.2494	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216517	0.79352	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.30182	1.54;1.54	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000001	T	0.39989	0.1099	L	0.29908	0.895	0.58432	D	0.999999	D	0.63880	0.993	P	0.55508	0.777	T	0.04255	-1.0965	10	0.38643	T	0.18	-7.4856	19.9785	0.97317	0.0:0.0:1.0:0.0	.	832	Q14686	NCOA6_HUMAN	Y	832	ENSP00000363929:H832Y;ENSP00000351894:H832Y	ENSP00000351894:H832Y	H	-	1	0	NCOA6	32801165	1.000000	0.71417	0.480000	0.27341	0.736000	0.42039	6.170000	0.71920	2.720000	0.93068	0.563000	0.77884	CAT	NCOA6	-	NULL		0.493	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	G	NM_014071		33337504	-1	no_errors	ENST00000359003	ensembl	human	known	70_37	missense	SNP	1.000	A
NDUFA1	4694	genome.wustl.edu	37	X	119007294	119007294	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:119007294C>A	ENST00000371437.4	+	2	555	c.130C>A	c.(130-132)Cac>Aac	p.H44N	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	44					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						TTTTGGGTATCACTGGAGTCT	0.393																																																	0													172.0	149.0	156.0					X																	119007294		2203	4300	6503	SO:0001583	missense	4694				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.130C>A	X.37:g.119007294C>A	ENSP00000360492:p.His44Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pirsf_NADH_Ub_cplx-1_asu_su-1	p.H44N	ENST00000371437.4	37	c.130	CCDS14590.1	X	.	.	.	.	.	.	.	.	.	.	C	3.515	-0.098903	0.07010	.	.	ENSG00000125356	ENST00000371437	T	0.71222	-0.55	4.88	1.97	0.26223	.	0.330306	0.33290	N	0.005074	T	0.54647	0.1871	.	.	.	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.49457	-0.8938	9	0.66056	D	0.02	-1.1731	4.3192	0.11009	0.0:0.6116:0.186:0.2024	.	44	O15239	NDUA1_HUMAN	N	44	ENSP00000360492:H44N	ENSP00000360492:H44N	H	+	1	0	NDUFA1	118891322	1.000000	0.71417	0.004000	0.12327	0.001000	0.01503	3.255000	0.51484	0.339000	0.23719	-0.503000	0.04515	CAC	NDUFA1	-	pirsf_NADH_Ub_cplx-1_asu_su-1		0.393	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA1	HGNC	protein_coding	OTTHUMT00000058080.1	C	NM_004541		119007294	+1	no_errors	ENST00000371437	ensembl	human	known	70_37	missense	SNP	0.010	A
NEB	4703	genome.wustl.edu	37	2	152374864	152374864	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152374864G>T	ENST00000172853.10	-	128	17812	c.17665C>A	c.(17665-17667)Cac>Aac	p.H5889N	NEB_ENST00000604864.1_Missense_Mutation_p.H7590N|NEB_ENST00000603639.1_Missense_Mutation_p.H7590N|NEB_ENST00000409198.1_Missense_Mutation_p.H5889N|NEB_ENST00000397345.3_Missense_Mutation_p.H7590N|NEB_ENST00000427231.2_Missense_Mutation_p.H7590N			P20929	NEBU_HUMAN	nebulin	5889					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTTTTAGGTGAAGCTGCTCC	0.433																																																	0													316.0	303.0	307.0					2																	152374864		1914	4123	6037	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17665C>A	2.37:g.152374864G>T	ENSP00000172853:p.His5889Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H7590N	ENST00000172853.10	37	c.22768		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.49|19.49	3.837745|3.837745	0.71373|0.71373	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	.|T;T;T;T;T	.|0.55234	.|0.53;0.53;0.53;0.53;0.53	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73830|0.73830	0.3637|0.3637	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.989;0.97	.|D;D;P	.|0.87578	.|0.998;0.962;0.799	T|T	0.71523|0.71523	-0.4567|-0.4567	5|10	.|0.39692	.|T	.|0.17	.|.	19.8351|19.8351	0.96655|0.96655	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5889;7590;2320	.|P20929;F8WCP0;Q14215	.|NEBU_HUMAN;.;.	L|N	212|5889;7590;7590;1938;2320;5889	.|ENSP00000386259:H5889N;ENSP00000380505:H7590N;ENSP00000416578:H7590N;ENSP00000410961:H2320N;ENSP00000172853:H5889N	.|ENSP00000172853:H5889N	F|H	-|-	3|1	2|0	NEB|NEB	152083110|152083110	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.736000|0.736000	0.42039|0.42039	9.869000|9.869000	0.99810|0.99810	2.687000|2.687000	0.91594|0.91594	0.655000|0.655000	0.94253|0.94253	TTC|CAC	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152374864	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152473963	152473963	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152473963C>G	ENST00000172853.10	-	71	10514	c.10367G>C	c.(10366-10368)tGg>tCg	p.W3456S	NEB_ENST00000604864.1_Missense_Mutation_p.W3699S|NEB_ENST00000603639.1_Missense_Mutation_p.W3699S|NEB_ENST00000409198.1_Missense_Mutation_p.W3456S|NEB_ENST00000397345.3_Missense_Mutation_p.W3699S|NEB_ENST00000427231.2_Missense_Mutation_p.W3699S			P20929	NEBU_HUMAN	nebulin	3456					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCATTGTCCCAGGCTTCAGT	0.333																																																	0													103.0	85.0	91.0					2																	152473963		1825	4078	5903	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.10367G>C	2.37:g.152473963C>G	ENSP00000172853:p.Trp3456Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.W3699S	ENST00000172853.10	37	c.11096		2	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913185	0.72983	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.62660	0.2446	M	0.90369	3.11	0.80722	D	1	P	0.37207	0.587	B	0.41174	0.349	T	0.66937	-0.5797	10	0.35671	T	0.21	.	19.1257	0.93382	0.0:1.0:0.0:0.0	.	3456	P20929	NEBU_HUMAN	S	3456;3699;3699;3456	ENSP00000386259:W3456S;ENSP00000380505:W3699S;ENSP00000416578:W3699S;ENSP00000172853:W3456S	ENSP00000172853:W3456S	W	-	2	0	NEB	152182209	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.881000	0.63114	2.597000	0.87782	0.591000	0.81541	TGG	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.333	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152473963	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152492755	152492755	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:152492755C>T	ENST00000172853.10	-	62	9037				NEB_ENST00000604864.1_Missense_Mutation_p.D3030N|NEB_ENST00000603639.1_Missense_Mutation_p.D3030N|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.D3030N|NEB_ENST00000427231.2_Missense_Mutation_p.D3030N			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATGATGTCCCTGGAGGCC	0.433																																																	0													120.0	114.0	116.0					2																	152492755		692	1591	2283	SO:0001627	intron_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8889+3615G>A	2.37:g.152492755C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.D3030N	ENST00000172853.10	37	c.9088		2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517735	0.64634	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.07800	3.16;3.16	5.96	5.96	0.96718	.	.	.	.	.	T	0.27241	0.0668	M	0.80183	2.485	0.80722	D	1	.	.	.	.	.	.	T	0.00745	-1.1584	7	0.21014	T	0.42	.	19.1722	0.93583	0.0:1.0:0.0:0.0	.	.	.	.	N	3030	ENSP00000380505:D3030N;ENSP00000416578:D3030N	ENSP00000380505:D3030N	D	-	1	0	NEB	152201001	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.483000	0.53194	2.826000	0.97356	0.655000	0.94253	GAC	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.433	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		C	NM_004543		152492755	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	1.000	T
NECAB1	64168	genome.wustl.edu	37	8	91813934	91813934	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:91813934G>C	ENST00000417640.2	+	2	452	c.115G>C	c.(115-117)Gac>Cac	p.D39H	NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAGGAGAGCAGACAAAAATGG	0.289																																																	0													22.0	22.0	22.0					8																	91813934		1724	3886	5610	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.115G>C	8.37:g.91813934G>C	ENSP00000387380:p.Asp39His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.D39H	ENST00000417640.2	37	c.115	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146279	0.77888	.	.	ENSG00000123119	ENST00000417640	D	0.97710	-4.5	5.38	5.38	0.77491	EF-hand-like domain (1);	.	.	.	.	D	0.98495	0.9498	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.98858	1.0761	9	0.87932	D	0	-0.8013	14.5095	0.67774	0.0:0.0:1.0:0.0	.	39	Q8N987	NECA1_HUMAN	H	39	ENSP00000387380:D39H	ENSP00000387380:D39H	D	+	1	0	NECAB1	91883110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.457000	0.60088	2.793000	0.96121	0.655000	0.94253	GAC	NECAB1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.289	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	G	NM_022351		91813934	+1	no_errors	ENST00000417640	ensembl	human	known	70_37	missense	SNP	1.000	C
NENF	29937	genome.wustl.edu	37	1	212617779	212617779	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:212617779G>A	ENST00000366988.3	+	3	394	c.337G>A	c.(337-339)Gac>Aac	p.D113N	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	113	Cytochrome b5 heme-binding.				positive regulation of MAPK cascade (GO:0043410)	extracellular space (GO:0005615)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		CCTCACCCATGACACTGTGAG	0.478																																																	0													83.0	74.0	77.0					1																	212617779		2203	4300	6503	SO:0001583	missense	29937				CCDS1505.1	1q32.3	2011-07-05	2011-07-05		ENSG00000117691	ENSG00000117691			30384	protein-coding gene	gene with protein product	"""neudesin"""	611874	"""neuron derived neurotrophic factor"""			9771976, 15605373	Standard	NM_013349		Approved	CIR2, SCIRP10, SPUF	uc001hjd.3	Q9UMX5	OTTHUMG00000036744	ENST00000366988.3:c.337G>A	1.37:g.212617779G>A	ENSP00000355955:p.Asp113Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1KYQ8|Q53FZ6|Q5TM90	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.D113N	ENST00000366988.3	37	c.337	CCDS1505.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024475	0.93518	.	.	ENSG00000117691	ENST00000366988	T	0.78246	-1.16	5.2	5.2	0.72013	Cytochrome b5 (3);	0.000000	0.85682	D	0.000000	D	0.83198	0.5202	M	0.81179	2.53	0.80722	D	1	P	0.39094	0.659	B	0.43658	0.426	D	0.85185	0.1006	10	0.56958	D	0.05	-15.2947	18.7459	0.91792	0.0:0.0:1.0:0.0	.	113	Q9UMX5	NENF_HUMAN	N	113	ENSP00000355955:D113N	ENSP00000355955:D113N	D	+	1	0	NENF	210684402	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.121000	0.94375	2.425000	0.82216	0.603000	0.83216	GAC	NENF	-	pfam_Cyt_B5,superfamily_Cyt_B5		0.478	NENF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NENF	HGNC	protein_coding	OTTHUMT00000089291.1	G	NM_013349		212617779	+1	no_errors	ENST00000366988	ensembl	human	known	70_37	missense	SNP	1.000	A
NEO1	4756	genome.wustl.edu	37	15	73409150	73409150	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:73409150G>A	ENST00000339362.5	+	3	847	c.400G>A	c.(400-402)Gag>Aag	p.E134K	NEO1_ENST00000558964.1_Missense_Mutation_p.E134K|NEO1_ENST00000560262.1_Missense_Mutation_p.E134K|NEO1_ENST00000261908.6_Missense_Mutation_p.E134K			Q92859	NEO1_HUMAN	neogenin 1	134	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GGCCACTGTTGAGAGTCTTGG	0.363																																																	0													101.0	102.0	101.0					15																	73409150		2198	4296	6494	SO:0001583	missense	4756			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.400G>A	15.37:g.73409150G>A	ENSP00000341198:p.Glu134Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E134K	ENST00000339362.5	37	c.400	CCDS10247.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362077	0.82353	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.12039	2.72;2.72	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.196595	0.53938	D	0.000058	T	0.17534	0.0421	L	0.38175	1.15	0.80722	D	1	B;B;B	0.31054	0.306;0.043;0.174	B;B;B	0.38985	0.287;0.143;0.201	T	0.06935	-1.0799	10	0.17369	T	0.5	-5.4489	20.33	0.98713	0.0:0.0:1.0:0.0	.	134;134;134	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	K	134	ENSP00000341198:E134K;ENSP00000261908:E134K	ENSP00000261908:E134K	E	+	1	0	NEO1	71196203	1.000000	0.71417	0.981000	0.43875	0.978000	0.69477	9.209000	0.95087	2.810000	0.96702	0.585000	0.79938	GAG	NEO1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.363	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	G	NM_002499		73409150	+1	no_errors	ENST00000261908	ensembl	human	known	70_37	missense	SNP	1.000	A
NEURL1	9148	genome.wustl.edu	37	10	105344981	105344981	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:105344981C>T	ENST00000369780.4	+	4	1747	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L	NEURL_ENST00000369777.2_Splice_Site_p.L429L	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		446	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCGCATCCTCGGTGAGTGCC	0.672																																																	0													7.0	7.0	7.0					10																	105344981		2003	4011	6014	SO:0001630	splice_region_variant	9148																														ENST00000369780.4:c.1339+1C>T	10.37:g.105344981C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Silent	SNP	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.L446	ENST00000369780.4	37	c.1338	CCDS7551.1	10																																																																																			NEURL	-	pfscan_Neu_Z		0.672	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	HGNC	protein_coding	OTTHUMT00000050170.1	C		Silent	105344981	+1	no_errors	ENST00000369780	ensembl	human	known	70_37	silent	SNP	0.926	T
NF1	4763	genome.wustl.edu	37	17	29509567	29509567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29509567G>T	ENST00000358273.4	+	8	1155	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E258*|NF1_ENST00000431387.4_Nonsense_Mutation_p.E258*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	258					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGTTTTGCTGAAAGCACCAA	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)											109.0	91.0	97.0					17																	29509567		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.772G>T	17.37:g.29509567G>T	ENSP00000351015:p.Glu258*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.E258*	ENST00000358273.4	37	c.772	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.013858	0.98002	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.47	5.47	0.80525	.	0.124120	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	19.3325	0.94297	0.0:0.0:1.0:0.0	.	.	.	.	X	258	.	ENSP00000348498:E258X	E	+	1	0	NF1	26533693	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.798000	0.91888	2.573000	0.86826	0.561000	0.74099	GAA	NF1	-	NULL		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	G	NM_000267		29509567	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NF1	4763	genome.wustl.edu	37	17	29527570	29527570	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29527570C>G	ENST00000358273.4	+	9	1402	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	NF1_ENST00000356175.3_Missense_Mutation_p.S340C|NF1_ENST00000431387.4_Missense_Mutation_p.S340C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGATAACTCTGTCATTTTC	0.378			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	GRCh37	CD972347	NF1	D							119.0	106.0	110.0					17																	29527570		2203	4300	6503	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1019C>G	17.37:g.29527570C>G	ENSP00000351015:p.Ser340Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.S340C	ENST00000358273.4	37	c.1019	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310687	0.81358	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.67171	2.73;-0.25;-0.25;2.88	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;D;D;D	0.79784	0.864;0.992;0.922;0.993;0.993	T	0.80781	-0.1229	10	0.48119	T	0.1	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	340;340;340;340;340	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	C	340;340;340;6	ENSP00000412921:S340C;ENSP00000351015:S340C;ENSP00000348498:S340C;ENSP00000389907:S6C	ENSP00000348498:S340C	S	+	2	0	NF1	26551696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.182000	0.77689	2.542000	0.85734	0.591000	0.81541	TCT	NF1	-	superfamily_ARM-type_fold		0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29527570	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	missense	SNP	1.000	G
NF1	4763	genome.wustl.edu	37	17	29546122	29546122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:29546122C>T	ENST00000358273.4	+	14	2010	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q543*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q543*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	543					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAGATTGCTCAGGAAGCAAT	0.453			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	GRCh37	CM020463	NF1	M							69.0	62.0	65.0					17																	29546122		2203	4300	6503	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1627C>T	17.37:g.29546122C>T	ENSP00000351015:p.Gln543*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.Q543*	ENST00000358273.4	37	c.1627	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597178	0.87055	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.7165	0.96122	0.0:1.0:0.0:0.0	.	.	.	.	X	543;543;543;209	.	ENSP00000348498:Q543X	Q	+	1	0	NF1	26570248	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.229000	0.78088	2.665000	0.90641	0.585000	0.79938	CAG	NF1	-	superfamily_ARM-type_fold		0.453	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	C	NM_000267		29546122	+1	no_errors	ENST00000358273	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NFIC	4782	genome.wustl.edu	37	19	3434306	3434306	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:3434306C>T	ENST00000443272.2	+	5	792	c.741C>T	c.(739-741)ttC>ttT	p.F247F	NFIC_ENST00000589123.1_Silent_p.F238F|NFIC_ENST00000346156.5_Silent_p.F214F|NFIC_ENST00000590282.1_Silent_p.F247F|NFIC_ENST00000395111.3_Silent_p.F238F|NFIC_ENST00000341919.3_Silent_p.F247F|NFIC_ENST00000586919.1_Silent_p.F214F	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	247					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GACCCAACTTCTCCCTGGGGG	0.612																																																	0													100.0	93.0	95.0					19																	3434306		2203	4300	6503	SO:0001819	synonymous_variant	4782			X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.741C>T	19.37:g.3434306C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Silent	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.F247	ENST00000443272.2	37	c.741	CCDS59330.1	19																																																																																			NFIC	-	pfam_CTF/NFI		0.612	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIC	HGNC	protein_coding	OTTHUMT00000452834.1	C	NM_005597		3434306	+1	no_errors	ENST00000443272	ensembl	human	known	70_37	silent	SNP	1.000	T
NGEF	25791	genome.wustl.edu	37	2	233748711	233748711	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:233748711C>T	ENST00000264051.3	-	11	1859	c.1581G>A	c.(1579-1581)gtG>gtA	p.V527V	NGEF_ENST00000373552.4_Silent_p.V435V|NGEF_ENST00000539537.1_Silent_p.V250V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	527	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCCGGCAGATCACCAGCAGGT	0.602																																																	0													81.0	77.0	78.0					2																	233748711		2203	4300	6503	SO:0001819	synonymous_variant	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1581G>A	2.37:g.233748711C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.V527	ENST00000264051.3	37	c.1581	CCDS2500.1	2																																																																																			NGEF	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.602	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	C	XM_044799		233748711	-1	no_errors	ENST00000264051	ensembl	human	known	70_37	silent	SNP	0.867	T
NHSL1	57224	genome.wustl.edu	37	6	138754791	138754791	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:138754791C>T	ENST00000427025.2	-	5	1331	c.703G>A	c.(703-705)Gat>Aat	p.D235N	MIR3145_ENST00000580727.1_RNA|NHSL1_ENST00000343505.5_Missense_Mutation_p.D231N	NM_020464.1	NP_065197.1	Q5SYE7	NHSL1_HUMAN	NHS-like 1	235										breast(2)|endometrium(4)|kidney(1)	7						GAGTGGCCATCAGCATCATCT	0.507																																																	0													32.0	27.0	29.0					6																	138754791		692	1591	2283	SO:0001583	missense	57224			AB037778	CCDS47487.1, CCDS55063.1	6q23.3	2009-02-18	2004-10-07	2004-10-07	ENSG00000135540	ENSG00000135540			21021	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 63"""	C6orf63			Standard	NM_001144060		Approved	bA43P8.1, KIAA1357	uc011edp.2	Q5SYE7	OTTHUMG00000016321	ENST00000427025.2:c.703G>A	6.37:g.138754791C>T	ENSP00000394546:p.Asp235Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCS5|Q5SYE8|Q9P2J0	Missense_Mutation	SNP	NULL	p.D235N	ENST00000427025.2	37	c.703	CCDS55063.1	6	.	.	.	.	.	.	.	.	.	.	C	3.306	-0.141740	0.06669	.	.	ENSG00000135540	ENST00000427025;ENST00000343505;ENST00000342260	T;T	0.35789	1.29;1.79	5.54	2.73	0.32206	.	0.390641	0.28895	N	0.013789	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B;B	0.22211	0.066;0.066	B;B	0.18561	0.022;0.022	T	0.29243	-1.0018	10	0.34782	T	0.22	-0.267	5.5367	0.17016	0.0:0.4546:0.261:0.2844	.	231;235	E2QRJ1;Q5SYE7	.;NHSL1_HUMAN	N	235;231;173	ENSP00000394546:D235N;ENSP00000344672:D231N	ENSP00000344582:D173N	D	-	1	0	NHSL1	138796484	0.124000	0.22315	0.002000	0.10522	0.001000	0.01503	2.605000	0.46283	0.716000	0.32124	0.655000	0.94253	GAT	NHSL1	-	NULL		0.507	NHSL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	NHSL1	HGNC	protein_coding	OTTHUMT00000043700.2	C	XM_050421		138754791	-1	no_errors	ENST00000427025	ensembl	human	known	70_37	missense	SNP	0.009	T
NIN	51199	genome.wustl.edu	37	14	51225146	51225146	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:51225146C>G	ENST00000382041.3	-	18	2792	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q	NIN_ENST00000453196.1_Missense_Mutation_p.E868Q|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E868Q|NIN_ENST00000530997.2_Missense_Mutation_p.E868Q|NIN_ENST00000245441.5_Missense_Mutation_p.E868Q|NIN_ENST00000382043.4_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	868					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCGCACACTCCTGGGTGAGC	0.542			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													73.0	68.0	69.0					14																	51225146		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2602G>C	14.37:g.51225146C>G	ENSP00000371472:p.Glu868Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.E868Q	ENST00000382041.3	37	c.2602	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.177274|4.177274	0.78564|0.78564	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08193|.	3.39;3.12;3.12;3.12|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.381264|.	0.31427|.	N|.	0.007664|.	T|T	0.76162|0.76162	0.3949|0.3949	M|M	0.69823|0.69823	2.125|2.125	0.40332|0.40332	D|D	0.978931|0.978931	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;D|.	0.85130|.	0.974;0.988;0.997;0.994|.	T|T	0.74725|0.74725	-0.3568|-0.3568	10|5	0.32370|.	T|.	0.25|.	-18.8879|-18.8879	19.0734|19.0734	0.93150|0.93150	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	874;868;868;868|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	Q|A	868;851;874;868;868;868|358	ENSP00000245441:E868Q;ENSP00000371472:E868Q;ENSP00000324210:E868Q;ENSP00000412391:E868Q|.	ENSP00000245441:E868Q|.	E|G	-|-	1|2	0|0	NIN|NIN	50294896|50294896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.148000|4.148000	0.58085|0.58085	2.756000|2.756000	0.94617|0.94617	0.561000|0.561000	0.74099|0.74099	GAG|GGA	NIN	-	NULL		0.542	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51225146	-1	no_errors	ENST00000245441	ensembl	human	known	70_37	missense	SNP	1.000	G
NIPAL1	152519	genome.wustl.edu	37	4	48036978	48036978	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:48036978C>T	ENST00000295461.5	+	5	608	c.542C>T	c.(541-543)tCa>tTa	p.S181L	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	181						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ATATTGGGGTCAACTGTGATG	0.383																																																	0													93.0	89.0	90.0					4																	48036978		2203	4300	6503	SO:0001583	missense	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.542C>T	4.37:g.48036978C>T	ENSP00000295461:p.Ser181Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTB0|Q68DA9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.S181L	ENST00000295461.5	37	c.542	CCDS3479.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.457941	0.96240	.	.	ENSG00000163293	ENST00000295461	T	0.66280	-0.2	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	D	0.87075	0.6087	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90888	0.4759	10	0.87932	D	0	-11.6119	19.7763	0.96395	0.0:1.0:0.0:0.0	.	181	Q6NVV3	NIPA3_HUMAN	L	181	ENSP00000295461:S181L	ENSP00000295461:S181L	S	+	2	0	NIPAL1	47731735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.707000	0.84623	2.740000	0.93945	0.555000	0.69702	TCA	NIPAL1	-	pfam_Mg_trans_NIPA,pfam_DMT		0.383	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	C	NM_207330		48036978	+1	no_errors	ENST00000295461	ensembl	human	known	70_37	missense	SNP	1.000	T
NIPBL	25836	genome.wustl.edu	37	5	36985324	36985324	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:36985324C>G	ENST00000282516.8	+	10	2541	c.2042C>G	c.(2041-2043)aCa>aGa	p.T681R	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.T681R	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	681					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTGTCTGACACAAAACCAAAT	0.398																																																	0													80.0	78.0	79.0					5																	36985324		2203	4300	6503	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2042C>G	5.37:g.36985324C>G	ENSP00000282516:p.Thr681Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.T681R	ENST00000282516.8	37	c.2042	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	C	9.287	1.049532	0.19827	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.92752	-3.07;-3.1	5.98	5.01	0.66863	.	0.590452	0.17319	N	0.178581	D	0.83018	0.5163	N	0.14661	0.345	0.25248	N	0.989698	B;B	0.16603	0.01;0.018	B;B	0.25291	0.026;0.059	T	0.68258	-0.5456	10	0.14656	T	0.56	.	8.1271	0.31005	0.0:0.7959:0.0:0.2041	.	681;681	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	R	681	ENSP00000282516:T681R;ENSP00000406266:T681R	ENSP00000282516:T681R	T	+	2	0	NIPBL	37021081	0.017000	0.18338	1.000000	0.80357	0.993000	0.82548	0.194000	0.17135	1.269000	0.44280	0.650000	0.86243	ACA	NIPBL	-	NULL		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	C	NM_015384		36985324	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	0.753	G
NIPBL	25836	genome.wustl.edu	37	5	37057354	37057354	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:37057354G>A	ENST00000282516.8	+	43	7829	c.7330G>A	c.(7330-7332)Gaa>Aaa	p.E2444K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2444K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2444					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAGACACAGGAAGAGCCGTT	0.373																																																	0													103.0	96.0	98.0					5																	37057354		2202	4300	6502	SO:0001583	missense	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7330G>A	5.37:g.37057354G>A	ENSP00000282516:p.Glu2444Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2444K	ENST00000282516.8	37	c.7330	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.556459	0.96514	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.96011	-3.88;-3.88	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	M	0.74881	2.28	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.986	D;D;D	0.70935	0.971;0.95;0.917	D	0.97684	1.0174	10	0.66056	D	0.02	-18.3845	20.1178	0.97943	0.0:0.0:1.0:0.0	.	2444;2444;2444	Q6IEH8;Q6KC79;Q6KC79-2	.;NIPBL_HUMAN;.	K	2444	ENSP00000282516:E2444K;ENSP00000406266:E2444K	ENSP00000282516:E2444K	E	+	1	0	NIPBL	37093111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.759000	0.94783	0.557000	0.71058	GAA	NIPBL	-	NULL		0.373	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	G	NM_015384		37057354	+1	no_errors	ENST00000282516	ensembl	human	known	70_37	missense	SNP	1.000	A
NKPD1	284353	genome.wustl.edu	37	19	45655990	45655990	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:45655990C>T	ENST00000438936.2	-	3	1250	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	NKPD1_ENST00000589776.1_Missense_Mutation_p.E347K|NKPD1_ENST00000429338.1_Missense_Mutation_p.E347K|NKPD1_ENST00000317951.4_Missense_Mutation_p.E569K|AC005757.7_ENST00000589594.1_lincRNA			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	347	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TGCGCGCTCTCGCCCCCGGCG	0.731																																																	0													6.0	6.0	6.0					19																	45655990		1788	3808	5596	SO:0001583	missense	284353			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1039G>A	19.37:g.45655990C>T	ENSP00000401739:p.Glu347Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.E569K	ENST00000438936.2	37	c.1705		19	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912817	0.52439	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.28895	1.59;1.59;1.59	5.4	5.4	0.78164	KAP P-loop (1);	0.392581	0.25848	N	0.027904	T	0.27027	0.0662	L	0.47716	1.5	0.42538	D	0.993068	B	0.33748	0.423	B	0.29176	0.099	T	0.05273	-1.0895	10	0.17369	T	0.5	-25.4322	16.6651	0.85250	0.0:1.0:0.0:0.0	.	347	Q17RQ9	NKPD1_HUMAN	K	569;347;347	ENSP00000321976:E569K;ENSP00000401739:E347K;ENSP00000404706:E347K	ENSP00000321976:E569K	E	-	1	0	NKPD1	50347830	0.955000	0.32602	0.567000	0.28434	0.581000	0.36288	1.288000	0.33296	2.534000	0.85438	0.462000	0.41574	GAG	NKPD1	-	pfam_KAP_NTPase		0.731	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	C	NM_198478		45655990	-1	no_errors	ENST00000317951	ensembl	human	known	70_37	missense	SNP	0.932	T
NKTR	4820	genome.wustl.edu	37	3	42678943	42678943	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:42678943G>A	ENST00000232978.8	+	13	1935	c.1747G>A	c.(1747-1749)Gaa>Aaa	p.E583K	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	583					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGTTAAAACAGAACCTTTAAG	0.403																																																	0													100.0	108.0	105.0					3																	42678943		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1747G>A	3.37:g.42678943G>A	ENSP00000232978:p.Glu583Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.E583K	ENST00000232978.8	37	c.1747	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499057	0.44455	.	.	ENSG00000114857	ENST00000232978	T	0.13196	2.61	5.65	5.65	0.86999	.	0.246452	0.41194	D	0.000931	T	0.18257	0.0438	L	0.29908	0.895	0.80722	D	1	P;P	0.52316	0.952;0.842	P;B	0.48488	0.579;0.253	T	0.00489	-1.1709	10	0.41790	T	0.15	-25.2417	19.6982	0.96039	0.0:0.0:1.0:0.0	.	283;583	Q6M1B8;P30414	.;NKTR_HUMAN	K	583	ENSP00000232978:E583K	ENSP00000232978:E583K	E	+	1	0	NKTR	42653947	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.721000	0.61951	2.664000	0.90586	0.491000	0.48974	GAA	NKTR	-	NULL		0.403	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42678943	+1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	0.997	A
NLRC5	84166	genome.wustl.edu	37	16	57070017	57070017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:57070017C>A	ENST00000262510.6	+	14	2858	c.2633C>A	c.(2632-2634)tCa>tAa	p.S878*	NLRC5_ENST00000436936.1_Nonsense_Mutation_p.S878*|NLRC5_ENST00000308149.7_Nonsense_Mutation_p.S878*|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.S878*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	878					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCAGCCTCTCAGGGAACCAG	0.572																																																	0													51.0	48.0	49.0					16																	57070017		2198	4300	6498	SO:0001587	stop_gained	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2633C>A	16.37:g.57070017C>A	ENSP00000262510:p.Ser878*	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.S878*	ENST00000262510.6	37	c.2633	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.913590	0.97099	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.	.	.	5.08	5.08	0.68730	.	0.000000	0.29002	N	0.013457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7769	0.78228	0.0:1.0:0.0:0.0	.	.	.	.	X	878;878;878;352;878;385;177	.	ENSP00000262510:S878X	S	+	2	0	NLRC5	55627518	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.995000	0.49441	2.648000	0.89879	0.561000	0.74099	TCA	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	C	NM_032206		57070017	+1	no_errors	ENST00000262510	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NLRP12	91662	genome.wustl.edu	37	19	54299115	54299115	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54299115G>C	ENST00000324134.6	-	9	3264	c.3096C>G	c.(3094-3096)ctC>ctG	p.L1032L	NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391773.1_Silent_p.L1033L|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391775.3_Silent_p.L975L|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000351894.4_Silent_p.L920L|NLRP12_ENST00000391772.1_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1032					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCCTCACCAGAGGACTCGGA	0.552																																																	0													59.0	49.0	52.0					19																	54299115		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.3096C>G	19.37:g.54299115G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L1032	ENST00000324134.6	37	c.3096	CCDS12864.1	19																																																																																			NLRP12	-	NULL		0.552	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54299115	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	silent	SNP	0.795	C
NLRP12	91662	genome.wustl.edu	37	19	54318218	54318218	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54318218G>A	ENST00000324134.6	-	2	482	c.314C>T	c.(313-315)tCa>tTa	p.S105L	NLRP12_ENST00000535162.1_Missense_Mutation_p.S105L|NLRP12_ENST00000391773.1_Missense_Mutation_p.S105L|NLRP12_ENST00000345770.5_Missense_Mutation_p.S105L|NLRP12_ENST00000391775.3_Missense_Mutation_p.S105L|NLRP12_ENST00000354278.3_Missense_Mutation_p.S105L|NLRP12_ENST00000351894.4_Missense_Mutation_p.S105L|NLRP12_ENST00000391772.1_Missense_Mutation_p.S105L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	105					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTTCCCAAGTGAGGACGGGCC	0.498																																																	0													126.0	114.0	118.0					19																	54318218		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.314C>T	19.37:g.54318218G>A	ENSP00000319377:p.Ser105Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S105L	ENST00000324134.6	37	c.314	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	9.219	1.032966	0.19590	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.74421	-0.78;-0.81;-0.84;-0.84;-0.82;-0.78;-0.81	3.62	2.54	0.30619	.	1.883340	0.03868	N	0.275127	T	0.61837	0.2379	N	0.19112	0.55	0.09310	N	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.0	T	0.49716	-0.8910	10	0.40728	T	0.16	.	7.5195	0.27620	0.1215:0.0:0.8785:0.0	.	105;105;105;105	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	L	105	ENSP00000319377:S105L;ENSP00000438030:S105L;ENSP00000340473:S105L;ENSP00000346231:S105L;ENSP00000375655:S105L;ENSP00000375653:S105L;ENSP00000375652:S105L	ENSP00000319377:S105L	S	-	2	0	NLRP12	59010030	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	0.949000	0.29109	1.056000	0.40484	0.655000	0.94253	TCA	NLRP12	-	NULL		0.498	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54318218	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	missense	SNP	0.002	A
NLRP11	204801	genome.wustl.edu	37	19	56321256	56321256	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:56321256G>A	ENST00000589093.1	-	3	813	c.720C>T	c.(718-720)gtC>gtT	p.V240V	NLRP11_ENST00000443188.1_Silent_p.V240V|NLRP11_ENST00000360133.3_Silent_p.V240V|NLRP11_ENST00000589824.2_Silent_p.V240V|NLRP11_ENST00000592953.1_Silent_p.V141V			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	240	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CACTTTCATTGACATTTAACT	0.483																																																	0													83.0	81.0	81.0					19																	56321256		2203	4300	6503	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.720C>T	19.37:g.56321256G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.V240	ENST00000589093.1	37	c.720	CCDS12935.1	19																																																																																			NLRP11	-	pfscan_NACHT_NTPase		0.483	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	G	NM_145007		56321256	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	silent	SNP	0.000	A
NLRP6	171389	genome.wustl.edu	37	11	281202	281202	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:281202G>C	ENST00000312165.5	+	4	1468	c.1468G>C	c.(1468-1470)Gag>Cag	p.E490Q	NLRP6_ENST00000534750.1_Missense_Mutation_p.E490Q	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	490	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGGCGTGCTGGAGACAGAGGT	0.622																																																	0													82.0	79.0	80.0					11																	281202		2203	4300	6503	SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1468G>C	11.37:g.281202G>C	ENSP00000309767:p.Glu490Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E490Q	ENST00000312165.5	37	c.1468	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	2.705	-0.270074	0.05716	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74315	-0.83;-0.79	3.26	0.0728	0.14388	NACHT nucleoside triphosphatase (1);	0.662806	0.12456	N	0.467327	T	0.53094	0.1775	N	0.25245	0.725	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.10450	0.005;0.005	T	0.30794	-0.9966	10	0.24483	T	0.36	.	3.7327	0.08499	0.3361:0.1863:0.4776:0.0	.	490;490	E9PJZ8;P59044	.;NALP6_HUMAN	Q	490	ENSP00000433617:E490Q;ENSP00000309767:E490Q	ENSP00000309767:E490Q	E	+	1	0	NLRP6	271202	0.142000	0.22610	0.022000	0.16811	0.818000	0.46254	0.257000	0.18369	0.030000	0.15379	0.455000	0.32223	GAG	NLRP6	-	pfscan_NACHT_NTPase		0.622	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		281202	+1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.001	C
NLRP7	199713	genome.wustl.edu	37	19	55449510	55449510	+	Silent	SNP	G	G	A	rs104895554		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:55449510G>A	ENST00000590030.1	-	4	2071	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	NLRP7_ENST00000328092.5_Silent_p.L649L|NLRP7_ENST00000592784.1_Silent_p.L677L|NLRP7_ENST00000340844.2_Silent_p.L677L|NLRP7_ENST00000446217.1_Silent_p.L705L|NLRP7_ENST00000448121.2_Silent_p.L649L|NLRP7_ENST00000588756.1_Silent_p.L677L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	677							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCAGAAACTTGAGGTTGCTGT	0.502																																																	0													142.0	144.0	144.0					19																	55449510		2203	4300	6503	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2031C>T	19.37:g.55449510G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L705	ENST00000590030.1	37	c.2115	CCDS33109.1	19																																																																																			NLRP7	-	NULL		0.502	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	G	NM_139176		55449510	-1	no_errors	ENST00000446217	ensembl	human	known	70_37	silent	SNP	0.014	A
NLRP8	126205	genome.wustl.edu	37	19	56466659	56466659	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:56466659G>A	ENST00000291971.3	+	3	1306	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	NLRP8_ENST00000590542.1_Missense_Mutation_p.R412K	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	412	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAAATGGAGAGAGGAAACAAT	0.483																																																	0													89.0	89.0	89.0					19																	56466659		2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1235G>A	19.37:g.56466659G>A	ENSP00000291971:p.Arg412Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7RTR4	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R412K	ENST00000291971.3	37	c.1235	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	0.138	-1.104959	0.01828	.	.	ENSG00000179709	ENST00000291971	D	0.83591	-1.74	1.78	-0.651	0.11454	.	.	.	.	.	T	0.57989	0.2091	N	0.12961	0.28	0.09310	N	1	B;B	0.29766	0.256;0.016	B;B	0.25140	0.058;0.01	T	0.51293	-0.8724	9	0.02654	T	1	.	2.9736	0.05930	0.1926:0.2932:0.5142:0.0	.	412;412	Q86W28-2;Q86W28	.;NALP8_HUMAN	K	412	ENSP00000291971:R412K	ENSP00000291971:R412K	R	+	2	0	NLRP8	61158471	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.458000	0.06737	-0.086000	0.12550	0.514000	0.50259	AGA	NLRP8	-	NULL		0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	HGNC	protein_coding	OTTHUMT00000457462.1	G	NM_176811		56466659	+1	no_errors	ENST00000291971	ensembl	human	known	70_37	missense	SNP	0.031	A
NOC3L	64318	genome.wustl.edu	37	10	96100046	96100046	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:96100046G>C	ENST00000371361.3	-	16	1867	c.1767C>G	c.(1765-1767)ttC>ttG	p.F589L	NOC3L_ENST00000543788.1_Missense_Mutation_p.F327L|NOC3L_ENST00000371350.1_Missense_Mutation_p.F589L	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	589					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				CATGTAATTTGAACAGTGTTT	0.284																																																	0													107.0	103.0	104.0					10																	96100046		2202	4297	6499	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1767C>G	10.37:g.96100046G>C	ENSP00000360412:p.Phe589Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.F589L	ENST00000371361.3	37	c.1767	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	2.856	-0.237276	0.05944	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.32272	2.44;1.46;1.46	5.41	0.946	0.19549	CCAAT-binding factor (1);	0.185300	0.49916	D	0.000131	T	0.08626	0.0214	N	0.01576	-0.805	0.33200	D	0.552037	B	0.06786	0.001	B	0.10450	0.005	T	0.37220	-0.9715	10	0.06625	T	0.88	-13.5258	8.7299	0.34491	0.4851:0.0:0.5149:0.0	.	589	Q8WTT2	NOC3L_HUMAN	L	327;589;589	ENSP00000437838:F327L;ENSP00000360412:F589L;ENSP00000360401:F589L	ENSP00000360401:F589L	F	-	3	2	NOC3L	96090036	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.109000	0.31135	0.372000	0.24591	0.655000	0.94253	TTC	NOC3L	-	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3		0.284	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	G	NM_022451		96100046	-1	no_errors	ENST00000371350	ensembl	human	known	70_37	missense	SNP	0.999	C
NOL10	79954	genome.wustl.edu	37	2	10815997	10815997	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:10815997C>T	ENST00000381685.5	-	4	317	c.212G>A	c.(211-213)gGa>gAa	p.G71E	NOL10_ENST00000542668.1_Splice_Site_p.G21E|NOL10_ENST00000345985.3_Splice_Site_p.G71E|NOL10_ENST00000538384.1_Intron	NM_024894.3	NP_079170.2	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	71						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)					Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TTTATATGTTCCTACAAAAAA	0.333																																																	0													52.0	50.0	51.0					2																	10815997		2202	4297	6499	SO:0001630	splice_region_variant	79954			AK024137	CCDS1673.2, CCDS58697.1, CCDS58698.1	2p25.1	2008-05-23			ENSG00000115761	ENSG00000115761			25862	protein-coding gene	gene with protein product			"""polyglutamine binding protein 5"""	PQBP5		12477932	Standard	NM_024894		Approved	FLJ14075	uc002raq.3	Q9BSC4	OTTHUMG00000119023	ENST00000381685.5:c.212-1G>A	2.37:g.10815997C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3R5|B4DLV0|Q53RC9|Q96TA5|Q9H7Y7|Q9H855	Missense_Mutation	SNP	pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.G71E	ENST00000381685.5	37	c.212	CCDS1673.2	2	.	.	.	.	.	.	.	.	.	.	C	31	5.101857	0.94245	.	.	ENSG00000115761	ENST00000345985;ENST00000381685;ENST00000542668	T;T;T	0.75050	1.72;2.31;-0.9	5.66	5.66	0.87406	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90985	0.7165	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93073	0.6484	10	0.87932	D	0	.	19.7416	0.96232	0.0:1.0:0.0:0.0	.	71;71	Q9BSC4;Q9BSC4-2	NOL10_HUMAN;.	E	71;71;21	ENSP00000263837:G71E;ENSP00000371101:G71E;ENSP00000437625:G21E	ENSP00000263837:G71E	G	-	2	0	NOL10	10733448	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.400000	0.79949	2.688000	0.91661	0.655000	0.94253	GGA	NOL10	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.333	NOL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL10	HGNC	protein_coding	OTTHUMT00000239227.1	C	NM_024894	Missense_Mutation	10815997	-1	no_errors	ENST00000381685	ensembl	human	known	70_37	missense	SNP	1.000	T
NOP56	10528	genome.wustl.edu	37	20	2636924	2636924	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:2636924G>C	ENST00000329276.5	+	9	1526				SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|SNORA51_ENST00000606420.1_RNA|NOP56_ENST00000492135.1_Intron	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CATTGGGGTAGAGATCCAATC	0.552																																																	0																																										SO:0001627	intron_variant	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1011-123G>C	20.37:g.2636924G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3T6|Q9NQ05	RNA	SNP	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			NOP56	-	-		0.552	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	HGNC	protein_coding	OTTHUMT00000077631.2	G	NM_006392		2636924	+1	no_errors	ENST00000480447	ensembl	human	known	70_37	rna	SNP	0.003	C
NOS1AP	9722	genome.wustl.edu	37	1	162326791	162326791	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:162326791G>A	ENST00000361897.5	+	8	1206	c.804G>A	c.(802-804)agG>agA	p.R268R	NOS1AP_ENST00000530878.1_Silent_p.R263R	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	268					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCTCACCCAGGATGCTGCTCC	0.617																																																	0													174.0	174.0	174.0					1																	162326791		2203	4300	6503	SO:0001819	synonymous_variant	9722			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.804G>A	1.37:g.162326791G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.R268	ENST00000361897.5	37	c.804	CCDS1237.1	1																																																																																			NOS1AP	-	NULL		0.617	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	G	NM_014697		162326791	+1	no_errors	ENST00000361897	ensembl	human	known	70_37	silent	SNP	1.000	A
NOTCH3	4854	genome.wustl.edu	37	19	15271474	15271474	+	Nonstop_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15271474C>G	ENST00000263388.2	-	33	7040	c.6965G>C	c.(6964-6966)tGa>tCa	p.*2322S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	0					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGAGCGTCTCAGGCCAACAC	0.572																																																	0													51.0	58.0	55.0					19																	15271474		2203	4299	6502	SO:0001578	stop_lost	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6965G>C	19.37:g.15271474C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UEB3|Q9UPL3|Q9Y6L8	Nonstop_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.*2322S	ENST00000263388.2	37	c.6965	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544166	0.27563	.	.	ENSG00000074181	ENST00000263388	.	.	.	3.99	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3765	0.32447	0.0:0.8364:0.0:0.1636	.	.	.	.	S	2322	.	.	X	-	2	2	NOTCH3	15132474	0.988000	0.35896	0.933000	0.37362	0.756000	0.42949	0.935000	0.28924	0.519000	0.28406	0.591000	0.81541	TGA	NOTCH3	-	NULL		0.572	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	C	NM_000435		15271474	-1	no_errors	ENST00000263388	ensembl	human	known	70_37	nonstop	SNP	1.000	G
NOXRED1	122945	genome.wustl.edu	37	14	77873163	77873163	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:77873163C>T	ENST00000380835.2	-	4	752	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K	NOXRED1_ENST00000298358.3_Missense_Mutation_p.E196K	NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	196					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						ACAGAATCTTCATCATACTGA	0.498																																																	0													85.0	69.0	75.0					14																	77873163		2203	4300	6503	SO:0001583	missense	122945			AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.586G>A	14.37:g.77873163C>T	ENSP00000370215:p.Glu196Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ47|O95435	Missense_Mutation	SNP	pfam_NADP_OxRdtase_F420	p.E196K	ENST00000380835.2	37	c.586	CCDS45142.1	14	.	.	.	.	.	.	.	.	.	.	C	6.676	0.493319	0.12702	.	.	ENSG00000165555	ENST00000380835;ENST00000298358;ENST00000555603	T;T;T	0.56103	0.52;0.48;0.52	5.94	-0.312	0.12758	.	1.307300	0.04858	N	0.443522	T	0.36963	0.0986	L	0.38531	1.155	0.09310	N	1	B;B	0.22003	0.063;0.038	B;B	0.20384	0.029;0.013	T	0.08911	-1.0699	10	0.17832	T	0.49	0.0138	1.8678	0.03202	0.129:0.4598:0.1251:0.2861	.	196;196	Q6NXP6-2;Q6NXP6	.;NXRD1_HUMAN	K	196	ENSP00000370215:E196K;ENSP00000298358:E196K;ENSP00000450597:E196K	ENSP00000298358:E196K	E	-	1	0	C14orf148	76942916	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.051000	0.14141	-0.340000	0.08388	-0.315000	0.08773	GAA	NOXRED1	-	NULL		0.498	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOXRED1	HGNC	protein_coding	OTTHUMT00000414103.1	C	NM_138791		77873163	-1	no_errors	ENST00000380835	ensembl	human	known	70_37	missense	SNP	0.000	T
NPAS1	4861	genome.wustl.edu	37	19	47535576	47535576	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:47535576C>G	ENST00000602212.1	+	4	619	c.399C>G	c.(397-399)gtC>gtG	p.V133V	NPAS1_ENST00000449844.2_Silent_p.V133V|NPAS1_ENST00000602189.1_5'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	133				LRAAGPPAGLAPGRRGPAALVSEVF -> NSRRPALRAAAA GARPAGGPGSQPP (in Ref. 6). {ECO:0000305}.	central nervous system development (GO:0007417)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TCTCCGAAGTCTTCGAGCAGC	0.672											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42.0	49.0	47.0					19																	47535576		2203	4300	6503	SO:0001819	synonymous_variant	4861			U77968	CCDS12694.1	19q13.2-q13.3	2013-05-21				ENSG00000130751		"""Basic helix-loop-helix proteins"""	7894	protein-coding gene	gene with protein product	"""neuronal PAS1"", ""member of PAS superfamily 5"""	603346				9012850, 9079689	Standard	NM_002517		Approved	MOP5, PASD5, bHLHe11	uc002pfy.3	Q99742		ENST00000602212.1:c.399C>G	19.37:g.47535576C>G		Somatic	947	WXS	Illumina HiSeq	Phase_IV	B4DR69|Q99632|Q9BY83	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.V133	ENST00000602212.1	37	c.399	CCDS12694.1	19																																																																																			NPAS1	-	NULL		0.672	NPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS1	HGNC	protein_coding	OTTHUMT00000466658.1	C	NM_002517		47535576	+1	no_errors	ENST00000449844	ensembl	human	known	70_37	silent	SNP	1.000	G
NPAS4	266743	genome.wustl.edu	37	11	66192484	66192484	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66192484C>T	ENST00000311034.2	+	7	2299	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	708					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAAGAGACGCCCGTGGAA	0.612																																																	0													74.0	81.0	78.0					11																	66192484		2200	4295	6495	SO:0001583	missense	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2123C>T	11.37:g.66192484C>T	ENSP00000311196:p.Thr708Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.T708M	ENST00000311034.2	37	c.2123	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	C	10.62	1.399943	0.25291	.	.	ENSG00000174576	ENST00000311034	T	0.47177	0.85	4.79	-1.53	0.08611	.	0.701451	0.13527	N	0.381227	T	0.22399	0.0540	N	0.08118	0	0.30657	N	0.75483	B	0.06786	0.001	B	0.04013	0.001	T	0.11036	-1.0604	10	0.87932	D	0	1.0838	4.9632	0.14078	0.1492:0.427:0.0:0.4238	.	708	Q8IUM7	NPAS4_HUMAN	M	708	ENSP00000311196:T708M	ENSP00000311196:T708M	T	+	2	0	NPAS4	65949060	0.116000	0.22171	0.997000	0.53966	0.999000	0.98932	-0.326000	0.07965	-0.093000	0.12396	0.655000	0.94253	ACG	NPAS4	-	NULL		0.612	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	C	NM_178864		66192484	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	missense	SNP	0.991	T
NPEPL1	79716	genome.wustl.edu	37	20	57268911	57268911	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:57268911C>T	ENST00000356091.6	+	2	557	c.269C>T	c.(268-270)tCg>tTg	p.S90L	NPEPL1_ENST00000525967.1_Missense_Mutation_p.S62L|NPEPL1_ENST00000525817.1_Missense_Mutation_p.S42L|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	90						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			AACAGCCCCTCGGCCGCCCAC	0.682																																																	0													22.0	28.0	26.0					20																	57268911		2099	4203	6302	SO:0001583	missense	79716			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.269C>T	20.37:g.57268911C>T	ENSP00000348395:p.Ser90Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Peptidase_M17	p.S90L	ENST00000356091.6	37	c.269	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479468	0.63849	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.31510	1.49;1.5;1.49	4.97	4.97	0.65823	.	0.055781	0.85682	D	0.000000	T	0.43567	0.1253	M	0.72894	2.215	0.80722	D	1	B;B;P	0.49783	0.392;0.28;0.928	B;B;P	0.48738	0.105;0.052;0.588	T	0.36696	-0.9737	10	0.34782	T	0.22	-17.0741	17.2194	0.86953	0.0:1.0:0.0:0.0	.	90;42;62	Q8NDH3;G5EA34;E9PN47	PEPL1_HUMAN;.;.	L	62;42;90	ENSP00000434810:S62L;ENSP00000437112:S42L;ENSP00000348395:S90L	ENSP00000348395:S90L	S	+	2	0	NPEPL1	56702318	1.000000	0.71417	0.972000	0.41901	0.537000	0.34900	5.712000	0.68407	2.304000	0.77564	0.505000	0.49811	TCG	NPEPL1	-	NULL		0.682	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	C	NM_024663		57268911	+1	no_errors	ENST00000356091	ensembl	human	known	70_37	missense	SNP	0.994	T
NPHP1	4867	genome.wustl.edu	37	2	110922134	110922134	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:110922134C>G	ENST00000393272.3	-	8	999	c.902G>C	c.(901-903)aGa>aCa	p.R301T	NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Missense_Mutation_p.R301T|NPHP1_ENST00000445609.2_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	301					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATACGTCCTCTGCTCTGTAC	0.378																																																	0													175.0	166.0	169.0					2																	110922134		2203	4300	6503	SO:0001583	missense	4867			AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.902G>C	2.37:g.110922134C>G	ENSP00000376953:p.Arg301Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O14837	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.R301T	ENST00000393272.3	37	c.902	CCDS46385.1	2	.	.	.	.	.	.	.	.	.	.	C	6.111	0.388744	0.11581	.	.	ENSG00000144061	ENST00000316534;ENST00000393272	T;T	0.60797	0.21;0.16	4.13	-4.91	0.03085	.	1.826670	0.03317	U	0.191381	T	0.30885	0.0779	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.08472	-1.0720	10	0.44086	T	0.13	-0.6455	1.709	0.02888	0.2659:0.429:0.1029:0.2023	.	301;301	O15259;O15259-4	NPHP1_HUMAN;.	T	301	ENSP00000313169:R301T;ENSP00000376953:R301T	ENSP00000313169:R301T	R	-	2	0	NPHP1	110279423	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.030000	0.13688	-0.901000	0.03891	0.655000	0.94253	AGA	NPHP1	-	NULL		0.378	NPHP1-001	KNOWN	basic|CCDS	protein_coding	NPHP1	HGNC	protein_coding	OTTHUMT00000253919.3	C	NM_000272		110922134	-1	no_errors	ENST00000316534	ensembl	human	known	70_37	missense	SNP	0.000	G
NPHS1	4868	genome.wustl.edu	37	19	36317448	36317448	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36317448G>T	ENST00000378910.5	-	29	3693	c.3694C>A	c.(3694-3696)Ctg>Atg	p.L1232M	NPHS1_ENST00000353632.6_Missense_Mutation_p.L1192M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1232	Binds to NPHS2.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCGAAGGGCAGAGAATCGGGT	0.552																																																	0													82.0	74.0	77.0					19																	36317448		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3694C>A	19.37:g.36317448G>T	ENSP00000368190:p.Leu1232Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L1232M	ENST00000378910.5	37	c.3694	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708801	0.48517	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;D	0.84660	-1.34;-1.88	4.83	1.38	0.22167	.	0.320705	0.24336	N	0.039414	T	0.77909	0.4201	L	0.32530	0.975	0.09310	N	0.999998	P	0.52577	0.954	P	0.49502	0.613	T	0.67573	-0.5636	10	0.44086	T	0.13	-4.4423	3.6701	0.08270	0.0919:0.1654:0.5718:0.1709	.	1232	O60500	NPHN_HUMAN	M	1232;1192	ENSP00000368190:L1232M;ENSP00000343634:L1192M	ENSP00000343634:L1192M	L	-	1	2	NPHS1	41009288	0.998000	0.40836	0.792000	0.32020	0.728000	0.41692	1.753000	0.38359	0.644000	0.30656	0.644000	0.83932	CTG	NPHS1	-	NULL		0.552	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	G			36317448	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	missense	SNP	0.274	T
NPHS1	4868	genome.wustl.edu	37	19	36322209	36322209	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36322209G>C	ENST00000378910.5	-	26	3375	c.3376C>G	c.(3376-3378)Cag>Gag	p.Q1126E	NPHS1_ENST00000353632.6_Missense_Mutation_p.Q1086E	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	1126					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGGAGCTCTGAGTGTCCCGC	0.592																																																	0													85.0	78.0	80.0					19																	36322209		2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.3376C>G	19.37:g.36322209G>C	ENSP00000368190:p.Gln1126Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDH2|C3RX61	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q1126E	ENST00000378910.5	37	c.3376	CCDS32996.1	19	.	.	.	.	.	.	.	.	.	.	G	0.520	-0.862453	0.02610	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.71579	-0.56;-0.58	5.07	1.68	0.24146	.	0.614000	0.16430	N	0.214785	T	0.47266	0.1436	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.32981	-0.9886	10	0.49607	T	0.09	0.0122	3.4465	0.07482	0.0926:0.1629:0.5629:0.1816	.	1126	O60500	NPHN_HUMAN	E	1126;1086	ENSP00000368190:Q1126E;ENSP00000343634:Q1086E	ENSP00000343634:Q1086E	Q	-	1	0	NPHS1	41014049	0.075000	0.21258	0.003000	0.11579	0.001000	0.01503	1.316000	0.33620	0.285000	0.22329	-0.555000	0.04198	CAG	NPHS1	-	NULL		0.592	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS1	HGNC	protein_coding	OTTHUMT00000452553.1	G			36322209	-1	no_errors	ENST00000378910	ensembl	human	known	70_37	missense	SNP	0.001	C
NPY5R	4889	genome.wustl.edu	37	4	164272147	164272147	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:164272147G>A	ENST00000515560.1	+	4	2244	c.722G>A	c.(721-723)gGa>gAa	p.G241E	NPY5R_ENST00000506953.1_Missense_Mutation_p.G241E|NPY5R_ENST00000338566.3_Missense_Mutation_p.G241E			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	241					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				ATAAGCTGTGGATTGTCCAAC	0.388																																					Melanoma(139;1287 1774 9781 19750 25599)												0													62.0	61.0	61.0					4																	164272147		2203	4300	6503	SO:0001583	missense	4889			BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.722G>A	4.37:g.164272147G>A	ENSP00000423917:p.Gly241Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTR7|Q92916	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.G241E	ENST00000515560.1	37	c.722	CCDS3804.1	4	.	.	.	.	.	.	.	.	.	.	G	6.534	0.466687	0.12402	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.37058	1.22;1.22;1.22	4.83	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.530453	0.15824	N	0.242869	T	0.36880	0.0983	L	0.56199	1.76	0.29594	N	0.848201	B	0.26708	0.157	B	0.33121	0.158	T	0.43310	-0.9399	10	0.62326	D	0.03	.	11.3309	0.49475	0.1524:0.0:0.8476:0.0	.	241	Q15761	NPY5R_HUMAN	E	241	ENSP00000339377:G241E;ENSP00000423917:G241E;ENSP00000423474:G241E	ENSP00000339377:G241E	G	+	2	0	NPY5R	164491597	0.994000	0.37717	0.978000	0.43139	0.136000	0.21042	2.424000	0.44714	1.352000	0.45808	0.591000	0.81541	GGA	NPY5R	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.388	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY5R	HGNC	protein_coding	OTTHUMT00000364633.1	G	NM_006174		164272147	+1	no_errors	ENST00000338566	ensembl	human	known	70_37	missense	SNP	0.967	A
NR0B1	190	genome.wustl.edu	37	X	30326419	30326419	+	Silent	SNP	G	G	A	rs371576376		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:30326419G>A	ENST00000378970.4	-	1	1296	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S	NR0B1_ENST00000453287.1_Silent_p.S354S|NR0B1_ENST00000378963.1_Silent_p.S59S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	354	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCTGGGAGGCGGAGGGCACCT	0.627											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													47.0	43.0	44.0					X																	30326419		2202	4300	6502	SO:0001819	synonymous_variant	190			S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1062C>T	X.37:g.30326419G>A		Somatic	816	WXS	Illumina HiSeq	Phase_IV	Q96F69	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	p.S354	ENST00000378970.4	37	c.1062	CCDS14223.1	X																																																																																			NR0B1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.627	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR0B1	HGNC	protein_coding	OTTHUMT00000056161.1	G	NM_000475		30326419	-1	no_errors	ENST00000378970	ensembl	human	known	70_37	silent	SNP	0.000	A
NR1D2	9975	genome.wustl.edu	37	3	24001171	24001171	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:24001171C>T	ENST00000312521.4	+	4	701	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	128	Hinge.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R128G(1)		NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGGTTTCTTTCGGAGAAGTAT	0.353																																																	1	Substitution - Missense(1)	lung(1)											136.0	134.0	135.0					3																	24001171		2203	4300	6503	SO:0001583	missense	9975			BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.382C>T	3.37:g.24001171C>T	ENSP00000310006:p.Arg128Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R128W	ENST00000312521.4	37	c.382	CCDS33718.1	3	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961222	0.74016	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.97941	-4.62	5.85	4.91	0.64330	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97987	1.0352	10	0.87932	D	0	.	13.6302	0.62191	0.2314:0.7686:0.0:0.0	.	128	Q14995	NR1D2_HUMAN	W	128	ENSP00000310006:R128W	ENSP00000310006:R128W	R	+	1	2	NR1D2	23976175	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.680000	0.37607	2.769000	0.95229	0.650000	0.86243	CGG	NR1D2	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt		0.353	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D2	HGNC	protein_coding	OTTHUMT00000341017.3	C			24001171	+1	no_errors	ENST00000312521	ensembl	human	known	70_37	missense	SNP	1.000	T
NRDE2	55051	genome.wustl.edu	37	14	90778753	90778753	+	Missense_Mutation	SNP	C	C	T	rs532677267		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:90778753C>T	ENST00000354366.3	-	4	774	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	181																	TATATCCCCTCGGTAGAGAGA	0.488																																																	0													121.0	103.0	109.0					14																	90778753		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.542G>A	14.37:g.90778753C>T	ENSP00000346335:p.Arg181Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.R181Q	ENST00000354366.3	37	c.542	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561982	0.86335	.	.	ENSG00000119720	ENST00000354366	T	0.28454	1.61	5.14	5.14	0.70334	.	0.061005	0.64402	D	0.000003	T	0.28466	0.0704	M	0.64567	1.98	0.80722	D	1	D	0.54047	0.964	B	0.37304	0.246	T	0.11060	-1.0603	10	0.44086	T	0.13	-10.548	12.3441	0.55111	0.0:0.9223:0.0:0.0777	.	181	Q9H7Z3	CN102_HUMAN	Q	181	ENSP00000346335:R181Q	ENSP00000346335:R181Q	R	-	2	0	C14orf102	89848506	1.000000	0.71417	0.949000	0.38748	0.974000	0.67602	4.083000	0.57643	2.547000	0.85894	0.549000	0.68633	CGA	NRDE2	-	NULL		0.488	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90778753	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	missense	SNP	1.000	T
NRDE2	55051	genome.wustl.edu	37	14	90778787	90778787	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:90778787C>G	ENST00000354366.3	-	4	740	c.508G>C	c.(508-510)Gat>Cat	p.D170H	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	170																	TTCGCAGGATCTGGTTTCTTA	0.458																																																	0													153.0	130.0	138.0					14																	90778787		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.508G>C	14.37:g.90778787C>G	ENSP00000346335:p.Asp170His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.D170H	ENST00000354366.3	37	c.508	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692226	0.88735	.	.	ENSG00000119720	ENST00000354366	T	0.60548	0.18	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80407	-0.1395	10	0.87932	D	0	-27.2194	19.4255	0.94740	0.0:1.0:0.0:0.0	.	170	Q9H7Z3	CN102_HUMAN	H	170	ENSP00000346335:D170H	ENSP00000346335:D170H	D	-	1	0	C14orf102	89848540	1.000000	0.71417	0.963000	0.40424	0.996000	0.88848	6.793000	0.75130	2.657000	0.90304	0.549000	0.68633	GAT	NRDE2	-	NULL		0.458	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90778787	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	missense	SNP	1.000	G
NRDE2	55051	genome.wustl.edu	37	14	90778799	90778799	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:90778799C>G	ENST00000354366.3	-	4	728	c.496G>C	c.(496-498)Gat>Cat	p.D166H	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	166																	GGTTTCTTATCTGTTCTGAAG	0.468																																																	0													155.0	134.0	141.0					14																	90778799		2203	4300	6503	SO:0001583	missense	55051			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.496G>C	14.37:g.90778799C>G	ENSP00000346335:p.Asp166His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	pfam_NRDE-2	p.D166H	ENST00000354366.3	37	c.496	CCDS9890.1	14	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691977	0.88735	.	.	ENSG00000119720	ENST00000354366	T	0.48522	0.81	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.70518	0.3233	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.73452	-0.3978	10	0.87932	D	0	-27.2883	19.4255	0.94740	0.0:1.0:0.0:0.0	.	166	Q9H7Z3	CN102_HUMAN	H	166	ENSP00000346335:D166H	ENSP00000346335:D166H	D	-	1	0	C14orf102	89848552	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	5.111000	0.64628	2.657000	0.90304	0.549000	0.68633	GAT	NRDE2	-	NULL		0.468	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRDE2	HGNC	protein_coding	OTTHUMT00000411264.1	C	NM_017970		90778799	-1	no_errors	ENST00000354366	ensembl	human	known	70_37	missense	SNP	1.000	G
NRXN1	9378	genome.wustl.edu	37	2	50847273	50847273	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:50847273C>G	ENST00000406316.2	-	8	2683	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	NRXN1_ENST00000406859.3_Missense_Mutation_p.E403Q|NRXN1_ENST00000404971.1_Missense_Mutation_p.E443Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.E395Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.E395Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.E403Q	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	403	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTATAATCTTCTTGCGTGTAG	0.478																																																	0													63.0	64.0	64.0					2																	50847273		2047	4228	6275	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1207G>C	2.37:g.50847273C>G	ENSP00000384311:p.Glu403Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E395Q	ENST00000406316.2	37	c.1183	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699915	0.68501	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.79141	-1.15;-1.15;-1.24;-1.15;-1.24;-1.15	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.87783	0.6264	M	0.64404	1.975	0.51482	D	0.999921	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.99;0.986;0.998	D	0.86705	0.1932	10	0.62326	D	0.03	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	443;403;395	Q9ULB1-3;F8WB18;A7E294	.;.;.	Q	443;403;395;403;444;395;403	ENSP00000385142:E443Q;ENSP00000384311:E403Q;ENSP00000434015:E395Q;ENSP00000385017:E403Q;ENSP00000385434:E395Q;ENSP00000385681:E403Q	ENSP00000385017:E403Q	E	-	1	0	NRXN1	50700777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50847273	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	missense	SNP	1.000	G
NSUN3	63899	genome.wustl.edu	37	3	93813021	93813021	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:93813021G>C	ENST00000314622.4	+	4	715	c.504G>C	c.(502-504)ttG>ttC	p.L168F		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	168							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GTCTGAGATTGAGGTGGCTAA	0.353																																																	0													84.0	79.0	81.0					3																	93813021		2203	4300	6503	SO:0001583	missense	63899			BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.504G>C	3.37:g.93813021G>C	ENSP00000318986:p.Leu168Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L168F	ENST00000314622.4	37	c.504	CCDS2927.1	3	.	.	.	.	.	.	.	.	.	.	G	0.140	-1.102958	0.01828	.	.	ENSG00000178694	ENST00000314622	T	0.27557	1.66	5.98	0.299	0.15771	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	1.008970	0.07934	N	0.977996	T	0.22475	0.0542	L	0.48260	1.515	0.23309	N	0.997932	B	0.09022	0.002	B	0.10450	0.005	T	0.34551	-0.9824	10	0.14656	T	0.56	0.7759	4.5011	0.11865	0.4203:0.3067:0.2729:0.0	.	168	Q9H649	NSUN3_HUMAN	F	168	ENSP00000318986:L168F	ENSP00000318986:L168F	L	+	3	2	NSUN3	95295711	0.997000	0.39634	0.543000	0.28128	0.016000	0.09150	0.448000	0.21726	0.067000	0.16545	-0.156000	0.13503	TTG	NSUN3	-	pfam_Fmu/NOL1/Nop2p		0.353	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN3	HGNC	protein_coding	OTTHUMT00000352934.1	G	NM_022072		93813021	+1	no_errors	ENST00000314622	ensembl	human	known	70_37	missense	SNP	0.875	C
NTF4	4909	genome.wustl.edu	37	19	49561421	49561421	+	IGR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:49561421G>C	ENST00000593537.1	-	0	932				NTF4_ENST00000451356.2_Missense_Mutation_p.Q36E|CTB-60B18.12_ENST00000597865.1_RNA|CGB7_ENST00000377280.3_5'Flank|CGB7_ENST00000596965.1_5'Flank|CGB7_ENST00000356213.4_De_novo_Start_InFrame|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000597853.1_De_novo_Start_InFrame			P34130	NTF4_HUMAN	neurotrophin 4						adult locomotory behavior (GO:0008344)|epidermis development (GO:0008544)|ganglion mother cell fate determination (GO:0007402)|innervation (GO:0060384)|long-term memory (GO:0007616)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell death (GO:0060548)|sensory organ boundary specification (GO:0008052)|taste bud development (GO:0061193)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	growth factor activity (GO:0008083)			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTGAATCCTTGATCCCCACAG	0.622																																																	0																																										SO:0001628	intergenic_variant	4909				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950		"""Endogenous ligands"""	8024	protein-coding gene	gene with protein product	"""neurotrophic factor 4"""	162662	"""neurotrophin 5 (neurotrophin 4/5)"""	NTF5		1496419	Standard	NM_006179		Approved	NT-4/5, GLC1O	uc010yah.1	P34130			19.37:g.49561421G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FH56	Missense_Mutation	SNP	NULL	p.Q36E	ENST00000593537.1	37	c.106	CCDS12754.1	19	.	.	.	.	.	.	.	.	.	.	G	2.205	-0.381970	0.04966	.	.	ENSG00000225950	ENST00000451356	.	.	.	2.28	1.17	0.20885	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	B	0.30068	0.267	B	0.36418	0.224	T	0.51212	-0.8734	7	0.87932	D	0	.	6.6741	0.23083	0.0:0.2996:0.7004:0.0	.	36	E7EP46	.	E	36	.	ENSP00000391622:Q36E	Q	-	1	0	AC008687.1	54253233	0.947000	0.32204	0.946000	0.38457	0.214000	0.24535	0.098000	0.15189	0.482000	0.27582	0.205000	0.17691	CAA	NTF4	-	NULL		0.622	NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NTF4	HGNC	protein_coding	OTTHUMT00000466258.1	G	NM_006179		49561421	-1	no_errors	ENST00000451356	ensembl	human	known	70_37	missense	SNP	0.964	C
NUBPL	80224	genome.wustl.edu	37	14	32328428	32328428	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:32328428G>A	ENST00000281081.7	+	0	1047				NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_3'UTR	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like						mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		CTGACATTAAGAGGACCTTTG	0.378																																																	0													82.0	73.0	76.0					14																	32328428		1839	4102	5941	SO:0001624	3_prime_UTR_variant	80224			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.*42G>A	14.37:g.32328428G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHZ1|Q86TZ4|Q9H9M2	RNA	SNP	-	NULL	ENST00000281081.7	37	NULL	CCDS41940.1	14																																																																																			NUBPL	-	-		0.378	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	G	NM_025152		32328428	+1	no_errors	ENST00000418681	ensembl	human	known	70_37	rna	SNP	0.000	A
NUDT16	131870	genome.wustl.edu	37	3	131100998	131100998	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:131100998G>C	ENST00000521288.1	+	2	278	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	NUDT16_ENST00000359850.3_Missense_Mutation_p.E50Q|RP11-933H2.4_ENST00000502521.1_RNA|NUDT16_ENST00000537561.1_Missense_Mutation_p.E37Q|NUDT16_ENST00000502852.1_Missense_Mutation_p.E83Q			Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	83	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640)			large_intestine(1)|lung(6)	7						GGAGCTGGGCGAAGCGGCTGC	0.677																																																	0													22.0	26.0	25.0					3																	131100998		2194	4268	6462	SO:0001583	missense	131870			AK055827	CCDS3070.1, CCDS3070.2, CCDS54640.1, CCDS54641.1	3q21.3	2005-01-25						"""Nudix motif containing"""	26442	protein-coding gene	gene with protein product						12477932	Standard	NM_152395		Approved	FLJ31265	uc021xec.1	Q96DE0		ENST00000521288.1:c.247G>C	3.37:g.131100998G>C	ENSP00000429274:p.Glu83Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3B4|E9PED4|F5GYJ1|Q96N82	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E83Q	ENST00000521288.1	37	c.247	CCDS3070.2	3	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529043	0.44969	.	.	ENSG00000198585	ENST00000537561;ENST00000359850;ENST00000521288;ENST00000502852	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	3.72	2.82	0.32997	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.381407	0.23429	N	0.048263	T	0.11836	0.0288	N	0.17474	0.49	0.27677	N	0.94657	D;D	0.89917	0.986;1.0	P;D	0.70716	0.74;0.97	T	0.14254	-1.0479	10	0.25751	T	0.34	-12.9481	9.9911	0.41872	0.0:0.4047:0.5953:0.0	.	83;50	Q96DE0;B4E3B4	NUD16_HUMAN;.	Q	37;50;83;83	ENSP00000440230:E37Q;ENSP00000352911:E50Q;ENSP00000429274:E83Q;ENSP00000422375:E83Q	ENSP00000352911:E50Q	E	+	1	0	NUDT16	132583688	0.090000	0.21635	0.959000	0.39883	0.576000	0.36127	0.848000	0.27710	0.882000	0.36016	0.555000	0.69702	GAA	NUDT16	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.677	NUDT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT16	HGNC	protein_coding	OTTHUMT00000356537.9	G	NM_152395		131100998	+1	no_errors	ENST00000521288	ensembl	human	known	70_37	missense	SNP	0.915	C
NUDT8	254552	genome.wustl.edu	37	11	67396431	67396431	+	Missense_Mutation	SNP	C	C	T	rs199685467		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67396431C>T	ENST00000376693.2	-	2	295	c.286G>A	c.(286-288)Gag>Aag	p.E96K	RP11-655M14.13_ENST00000533311.1_lincRNA|NUDT8_ENST00000301490.4_Missense_Mutation_p.E96K	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	96	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.					mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						ACGTGCTCCTCGGGCACTGCC	0.652											OREG0021134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LYS/GLU	0,4400		0,0,2200	51.0	54.0	53.0		286	0.0	0.0	11		53	4,8582	3.7+/-12.6	0,4,4289	yes	missense	NUDT8	NM_181843.2	56	0,4,6489	TT,TC,CC		0.0466,0.0,0.0308	benign	96/141	67396431	4,12982	2200	4293	6493	SO:0001583	missense	254552			AI743601	CCDS8174.1, CCDS58151.1	11q13.2	2008-07-21			ENSG00000167799	ENSG00000167799		"""Nudix motif containing"""	8055	protein-coding gene	gene with protein product						11415433	Standard	NM_181843		Approved	FLJ41567	uc001omo.2	Q8WV74	OTTHUMG00000167292	ENST00000376693.2:c.286G>A	11.37:g.67396431C>T	ENSP00000365883:p.Glu96Lys	Somatic	1099	WXS	Illumina HiSeq	Phase_IV	Q6ZW59	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.E96K	ENST00000376693.2	37	c.286	CCDS58151.1	11	.	.	.	.	.	.	.	.	.	.	C	3.713	-0.059157	0.07317	0.0	4.66E-4	ENSG00000167799	ENST00000301490;ENST00000376693	T;T	0.06068	3.35;3.35	4.24	0.0139	0.14098	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.658638	0.15237	N	0.273080	T	0.02012	0.0063	N	0.03930	-0.32	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.001;0.005	T	0.46512	-0.9186	10	0.05833	T	0.94	-11.3525	5.2833	0.15688	0.0:0.4972:0.3326:0.1702	.	96;96	Q8WV74;Q8WV74-2	NUDT8_HUMAN;.	K	96	ENSP00000301490:E96K;ENSP00000365883:E96K	ENSP00000301490:E96K	E	-	1	0	NUDT8	67153007	0.000000	0.05858	0.021000	0.16686	0.891000	0.51852	0.029000	0.13666	-0.165000	0.10908	-0.264000	0.10439	GAG	NUDT8	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.652	NUDT8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUDT8	HGNC	protein_coding	OTTHUMT00000394036.1	C	NM_181843		67396431	-1	no_errors	ENST00000376693	ensembl	human	known	70_37	missense	SNP	0.017	T
NUGGC	389643	genome.wustl.edu	37	8	27922101	27922101	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:27922101C>T	ENST00000413272.2	-	7	1001	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	NUGGC_ENST00000341513.6_Missense_Mutation_p.V287M	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	287					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										TCCACCAGCACGACCCCTTCT	0.527																																																	0													78.0	81.0	80.0					8																	27922101		2062	4194	6256	SO:0001583	missense	389643			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.859G>A	8.37:g.27922101C>T	ENSP00000408697:p.Val287Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZP73	Missense_Mutation	SNP	pfam_Dynamin_GTPase	p.V287M	ENST00000413272.2	37	c.859	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811226	0.70797	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.97089	-4.24;-4.24	5.93	5.06	0.68205	Dynamin, GTPase domain (1);	0.000000	0.56097	D	0.000033	D	0.98210	0.9408	M	0.84326	2.69	0.32006	N	0.602681	D	0.89917	1.0	D	0.87578	0.998	D	0.98808	1.0742	10	0.87932	D	0	-15.8397	11.1222	0.48298	0.0:0.9154:0.0:0.0846	.	287	Q68CJ6	SLIP_HUMAN	M	287	ENSP00000408697:V287M;ENSP00000345031:V287M	ENSP00000345031:V287M	V	-	1	0	C8orf80	27978020	0.705000	0.27846	0.922000	0.36590	0.957000	0.61999	1.044000	0.30329	1.523000	0.49018	-0.145000	0.13849	GTG	NUGGC	-	pfam_Dynamin_GTPase		0.527	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	HGNC	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27922101	-1	no_errors	ENST00000341513	ensembl	human	known	70_37	missense	SNP	0.966	T
NUP188	23511	genome.wustl.edu	37	9	131765678	131765678	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:131765678C>G	ENST00000372577.2	+	38	4400	c.4379C>G	c.(4378-4380)tCt>tGt	p.S1460C	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1460					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGCAGCTCTCTAACTTCATG	0.567																																																	0													127.0	119.0	122.0					9																	131765678		2203	4300	6503	SO:0001583	missense	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4379C>G	9.37:g.131765678C>G	ENSP00000361658:p.Ser1460Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.S1460C	ENST00000372577.2	37	c.4379	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503303	0.85176	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.37058	1.22	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.79784	0.894;0.993	T	0.57791	-0.7750	10	0.49607	T	0.09	-14.0018	19.0419	0.93004	0.0:1.0:0.0:0.0	.	793;1460	E9PET9;Q5SRE5	.;NU188_HUMAN	C	1349;1460	ENSP00000361658:S1460C	ENSP00000349125:S1349C	S	+	2	0	NUP188	130805499	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	7.487000	0.81328	2.758000	0.94735	0.561000	0.74099	TCT	NUP188	-	NULL		0.567	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131765678	+1	no_errors	ENST00000372577	ensembl	human	known	70_37	missense	SNP	1.000	G
NUP210L	91181	genome.wustl.edu	37	1	154098850	154098850	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154098850C>G	ENST00000368559.3	-	10	1346	c.1275G>C	c.(1273-1275)ctG>ctC	p.L425L	NUP210L_ENST00000271854.3_Silent_p.L425L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	425					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CACCATCTTTCAGGGCTTTTA	0.388																																																	0													189.0	168.0	174.0					1																	154098850		1873	4105	5978	SO:0001819	synonymous_variant	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1275G>C	1.37:g.154098850C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.L425	ENST00000368559.3	37	c.1275	CCDS41399.1	1																																																																																			NUP210L	-	NULL		0.388	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		154098850	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	silent	SNP	0.987	G
NUP214	8021	genome.wustl.edu	37	9	134050876	134050876	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:134050876C>T	ENST00000359428.5	+	23	3331	c.3187C>T	c.(3187-3189)Caa>Taa	p.Q1063*	NUP214_ENST00000411637.2_Nonsense_Mutation_p.Q1053*|NUP214_ENST00000451030.1_Nonsense_Mutation_p.Q1064*			P35658	NU214_HUMAN	nucleoporin 214kDa	1063	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AATTATTCCTCAAGGGGCCGA	0.478			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													52.0	53.0	53.0					9																	134050876		2203	4300	6503	SO:0001587	stop_gained	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.3187C>T	9.37:g.134050876C>T	ENSP00000352400:p.Gln1063*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Nonsense_Mutation	SNP	smart_WD40_repeat	p.Q1064*	ENST00000359428.5	37	c.3190	CCDS6940.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.679296	0.96774	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	.	.	.	5.92	5.92	0.95590	.	0.000000	0.41001	D	0.000972	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-3.3984	19.3088	0.94175	0.0:1.0:0.0:0.0	.	.	.	.	X	1063;1053;1064;1052;657;492	.	ENSP00000352400:Q1063X	Q	+	1	0	NUP214	133040697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.113000	0.41902	2.813000	0.96785	0.561000	0.74099	CAA	NUP214	-	NULL		0.478	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	C	NM_005085		134050876	+1	no_errors	ENST00000451030	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NUP43	348995	genome.wustl.edu	37	6	150067800	150067800	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:150067800G>A	ENST00000340413.2	-	0	0				PCMT1_ENST00000367378.1_5'Flank|NUP43_ENST00000460354.2_5'Flank|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000367403.3_Silent_p.L5L|NUP43_ENST00000367404.4_5'Flank|PCMT1_ENST00000464889.1_5'Flank|PCMT1_ENST00000367384.2_5'Flank	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa						carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		TACCTAGACTGAGAGGCCCAC	0.537																																																	0																																										SO:0001631	upstream_gene_variant	348995			AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795		6.37:g.150067800G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2F0|Q9H8S0	Silent	SNP	superfamily_WD40_repeat_dom	p.L5	ENST00000340413.2	37	c.15	CCDS5218.1	6																																																																																			NUP43	-	NULL		0.537	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP43	HGNC	protein_coding	OTTHUMT00000396947.1	G	NM_198887		150067800	-1	no_errors	ENST00000367403	ensembl	human	known	70_37	silent	SNP	0.000	A
NYNRIN	57523	genome.wustl.edu	37	14	24868463	24868463	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:24868463C>G	ENST00000382554.3	+	2	329	c.11C>G	c.(10-12)tCt>tGt	p.S4C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	4					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATGCTCCTGTCTGGGGGCGAT	0.682																																																	0													26.0	31.0	29.0					14																	24868463		1949	4137	6086	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.11C>G	14.37:g.24868463C>G	ENSP00000371994:p.Ser4Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core	p.S4C	ENST00000382554.3	37	c.11	CCDS45090.1	14	.	.	.	.	.	.	.	.	.	.	C	10.29	1.309038	0.23821	.	.	ENSG00000205978	ENST00000382554	T	0.12672	2.66	3.6	2.7	0.31948	.	0.604873	0.11297	U	0.578669	T	0.06554	0.0168	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.37780	0.258	T	0.21621	-1.0240	10	0.72032	D	0.01	.	6.6124	0.22759	0.2052:0.5956:0.1992:0.0	.	4	Q9P2P1	NYNRI_HUMAN	C	4	ENSP00000371994:S4C	ENSP00000371994:S4C	S	+	2	0	NYNRIN	23938303	0.000000	0.05858	0.712000	0.30502	0.397000	0.30659	-0.013000	0.12678	1.058000	0.40530	0.491000	0.48974	TCT	NYNRIN	-	NULL		0.682	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYNRIN	HGNC	protein_coding	OTTHUMT00000412939.1	C			24868463	+1	no_errors	ENST00000382554	ensembl	human	known	70_37	missense	SNP	0.315	G
OAZ1	4946	genome.wustl.edu	37	19	2271386	2271386	+	Missense_Mutation	SNP	C	C	G	rs28384673	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2271386C>G	ENST00000602676.2	+	2	228	c.149C>G	c.(148-150)tCc>tGc	p.S50C	OAZ1_ENST00000582888.4_Intron|OAZ1_ENST00000588673.2_Missense_Mutation_p.P79A|OAZ1_ENST00000583542.4_Missense_Mutation_p.S50C|JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000322297.4_Missense_Mutation_p.S50C			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	50			S -> F (in dbSNP:rs28384673). {ECO:0000269|Ref.5}.		cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		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)	L-Ornithine(DB00129)	ATCTTCAGTTCCAGGGTCTCC	0.687																																																	0													34.0	35.0	35.0					19																	2271386		1928	4136	6064	SO:0001583	missense	4946				CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.149C>G	19.37:g.2271386C>G	ENSP00000473381:p.Ser50Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.S50C	ENST00000602676.2	37	c.149	CCDS58639.1	19	.	.	.	.	.	.	.	.	.	.	C	10.05	1.243116	0.22796	.	.	ENSG00000104904	ENST00000322297	T	0.13420	2.59	4.51	4.51	0.55191	.	0.737794	0.13814	N	0.360931	T	0.24699	0.0599	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	P	0.55667	0.781	T	0.02132	-1.1208	10	0.59425	D	0.04	.	16.1986	0.82053	0.0:1.0:0.0:0.0	.	50	P54368	OAZ1_HUMAN	C	50	ENSP00000314813:S50C	ENSP00000314813:S50C	S	+	2	0	OAZ1	2222386	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	4.279000	0.58953	2.057000	0.61298	0.462000	0.41574	TCC	OAZ1	-	pfam_ODC_AZ		0.687	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ1	HGNC	protein_coding	OTTHUMT00000467467.2	C	NM_004152		2271386	+1	no_errors	ENST00000322297	ensembl	human	known	70_37	missense	SNP	1.000	G
OFD1	8481	genome.wustl.edu	37	X	13779289	13779289	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:13779289C>T	ENST00000340096.6	+	17	2673	c.2346C>T	c.(2344-2346)ctC>ctT	p.L782L	OFD1_ENST00000380550.3_Silent_p.L742L|OFD1_ENST00000380567.1_Silent_p.L642L|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	782	Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGCACAGCCTCTCCATCCCTC	0.517																																																	0													129.0	94.0	106.0					X																	13779289		2203	4300	6503	SO:0001819	synonymous_variant	8481			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.2346C>T	X.37:g.13779289C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVU5|O75666|Q4VAK4	Silent	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L782	ENST00000340096.6	37	c.2346	CCDS14157.1	X																																																																																			OFD1	-	NULL		0.517	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	C	NM_003611		13779289	+1	no_errors	ENST00000340096	ensembl	human	known	70_37	silent	SNP	0.002	T
OIT3	170392	genome.wustl.edu	37	10	74673095	74673095	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:74673095G>C	ENST00000334011.5	+	6	1038	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	274	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AAATGCCATTGAAGTGAACAT	0.517																																					Colon(7;19 345 13446 17537)												0													192.0	187.0	189.0					10																	74673095		2203	4300	6503	SO:0001583	missense	170392				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.820G>C	10.37:g.74673095G>C	ENSP00000333900:p.Glu274Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVP3|Q8N1M8	Missense_Mutation	SNP	pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.E274Q	ENST00000334011.5	37	c.820	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584199	0.65992	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.82984	-1.67	5.95	5.05	0.67936	Zona pellucida sperm-binding protein (3);	0.000000	0.64402	D	0.000015	D	0.86360	0.5914	L	0.54323	1.7	0.50467	D	0.999875	D	0.53312	0.959	P	0.58130	0.833	D	0.84122	0.0407	10	0.24483	T	0.36	-11.8004	15.3601	0.74464	0.0668:0.0:0.9332:0.0	.	274	Q8WWZ8	OIT3_HUMAN	Q	274	ENSP00000333900:E274Q	ENSP00000333900:E274Q	E	+	1	0	OIT3	74343101	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	7.312000	0.78968	1.526000	0.49068	0.655000	0.94253	GAA	OIT3	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom		0.517	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	HGNC	protein_coding	OTTHUMT00000048596.1	G	NM_152635		74673095	+1	no_errors	ENST00000334011	ensembl	human	known	70_37	missense	SNP	0.998	C
OLFM3	118427	genome.wustl.edu	37	1	102290715	102290715	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:102290715G>C	ENST00000338858.5	-	4	518	c.519C>G	c.(517-519)ttC>ttG	p.F173L	OLFM3_ENST00000536598.1_Missense_Mutation_p.F78L|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.F173L|OLFM3_ENST00000370103.4_Missense_Mutation_p.F153L			Q96PB7	NOE3_HUMAN	olfactomedin 3	173					eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TTTCCTCCTTGAACTGGGTGA	0.468																																																	0													134.0	122.0	126.0					1																	102290715		2203	4300	6503	SO:0001583	missense	118427			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.519C>G	1.37:g.102290715G>C	ENSP00000345192:p.Phe173Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Missense_Mutation	SNP	pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like	p.F173L	ENST00000338858.5	37	c.519		1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774484	0.49786	.	.	ENSG00000118733	ENST00000424771;ENST00000370103;ENST00000338858;ENST00000536598;ENST00000359814	D;D;T;T	0.85773	-1.99;-2.03;-0.5;0.61	5.91	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	L	0.39898	1.24	0.41089	D	0.985587	B;P	0.52842	0.011;0.956	B;P	0.62184	0.013;0.899	T	0.77289	-0.2643	10	0.02654	T	1	.	10.1708	0.42908	0.2034:0.0:0.7966:0.0	.	153;173	Q5T3V6;Q96PB7	.;NOE3_HUMAN	L	24;153;173;78;173	ENSP00000359121:F153L;ENSP00000345192:F173L;ENSP00000443471:F78L;ENSP00000352867:F173L	ENSP00000345192:F173L	F	-	3	2	OLFM3	102063303	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.991000	0.40727	0.856000	0.35383	-0.137000	0.14449	TTC	OLFM3	-	superfamily_Quino_amine_DH_bsu		0.468	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	G			102290715	-1	no_errors	ENST00000338858	ensembl	human	known	70_37	missense	SNP	1.000	C
OLIG2	10215	genome.wustl.edu	37	21	34399424	34399424	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:34399424C>G	ENST00000333337.3	+	1	1182	c.254C>G	c.(253-255)tCt>tGt	p.S85C	OLIG2_ENST00000382357.3_Missense_Mutation_p.S85C|AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	85	Poly-Ser.				myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						ACCTCGTCGTCTACGTCGTCG	0.642			T	TRA@	T-ALL																																			Dom	yes		21	21q22.11	10215	oligodendrocyte lineage transcription factor 2 (BHLHB1)		L	0													23.0	27.0	25.0					21																	34399424		2201	4299	6500	SO:0001583	missense	10215			U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"""Basic helix-loop-helix proteins"""	9398	protein-coding gene	gene with protein product	"""oligodendrocyte-specific bHLH transcription factor 2"", ""protein kinase C binding protein 2"", ""human protein kinase C-binding protein RACK17"", ""basic domain, helix-loop-helix protein, class B, 1"""	606386	"""protein kinase C binding protein 2"""	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.254C>G	21.37:g.34399424C>G	ENSP00000331040:p.Ser85Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S85C	ENST00000333337.3	37	c.254	CCDS13620.1	21	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284147	0.59867	.	.	ENSG00000205927	ENST00000382357;ENST00000333337	T;T	0.81330	-1.48;-1.48	3.25	3.25	0.37280	.	.	.	.	.	T	0.74160	0.3680	N	0.19112	0.55	0.28872	N	0.894884	D	0.56521	0.976	P	0.49752	0.621	T	0.69060	-0.5245	9	0.59425	D	0.04	-6.1465	11.4781	0.50310	0.0:1.0:0.0:0.0	.	85	Q13516	OLIG2_HUMAN	C	85	ENSP00000371794:S85C;ENSP00000331040:S85C	ENSP00000331040:S85C	S	+	2	0	OLIG2	33321294	1.000000	0.71417	0.971000	0.41717	0.780000	0.44128	4.615000	0.61190	1.627000	0.50400	0.462000	0.41574	TCT	OLIG2	-	NULL		0.642	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OLIG2	HGNC	protein_coding	OTTHUMT00000139663.1	C	NM_005806		34399424	+1	no_errors	ENST00000333337	ensembl	human	known	70_37	missense	SNP	1.000	G
ONECUT2	9480	genome.wustl.edu	37	18	55143683	55143683	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:55143683G>C	ENST00000491143.2	+	2	1275	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	415					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CAAACGCAAAGAGCAAGAACC	0.483																																																	0													38.0	42.0	40.0					18																	55143683		2040	4198	6238	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1243G>C	18.37:g.55143683G>C	ENSP00000419185:p.Glu415Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.E415Q	ENST00000491143.2	37	c.1243	CCDS42440.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.684339|4.684339	0.88639|0.88639	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000491143;ENST00000262095|ENST00000481727	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	Homeodomain-related (1);Lambda repressor-like, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83852|0.83852	0.5344|0.5344	M|M	0.86268|0.86268	2.805|2.805	0.80722|0.80722	D|D	1|1	D|.	0.61697|.	0.99|.	D|.	0.71414|.	0.973|.	D|D	0.84007|0.84007	0.0346|0.0346	9|5	0.51188|.	T|.	0.08|.	-15.2113|-15.2113	20.1323|20.1323	0.98003|0.98003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	415|.	O95948|.	ONEC2_HUMAN|.	Q|T	396;415|43	.|.	ENSP00000262095:E415Q|.	E|R	+|+	1|2	0|0	ONECUT2|ONECUT2	53294681|53294681	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAG|AGA	ONECUT2	-	superfamily_Lambda_DNA-bd_dom		0.483	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	G			55143683	+1	no_errors	ENST00000262095	ensembl	human	known	70_37	missense	SNP	1.000	C
OR10A5	144124	genome.wustl.edu	37	11	6867247	6867247	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:6867247G>C	ENST00000299454.4	+	1	365	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	OR10A5_ENST00000379831.2_Missense_Mutation_p.E116Q			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGGGTAGCTGAATGCTTCCT	0.527																																					Pancreas(44;21 1072 25662 28041 45559)												0													122.0	120.0	120.0					11																	6867247		2201	4296	6497	SO:0001583	missense	144124			AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.334G>C	11.37:g.6867247G>C	ENSP00000299454:p.Glu112Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O95223|Q52M66|Q96R21|Q96R22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E116Q	ENST00000299454.4	37	c.346	CCDS7773.1	11	.	.	.	.	.	.	.	.	.	.	.	15.53	2.859725	0.51376	.	.	ENSG00000166363	ENST00000299454;ENST00000379831	T;T	0.02177	4.41;4.41	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.097595	0.44688	D	0.000432	T	0.13670	0.0331	M	0.88512	2.96	0.28455	N	0.91616	D	0.76494	0.999	D	0.68353	0.957	T	0.00950	-1.1503	10	0.66056	D	0.02	.	13.4894	0.61386	0.0:0.0:1.0:0.0	.	112	Q9H207	O10A5_HUMAN	Q	112;116	ENSP00000299454:E112Q;ENSP00000369159:E116Q	ENSP00000299454:E112Q	E	+	1	0	OR10A5	6823823	0.999000	0.42202	0.983000	0.44433	0.937000	0.57800	3.035000	0.49759	2.265000	0.75225	0.585000	0.79938	GAA	OR10A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A5	HGNC	protein_coding	OTTHUMT00000385983.1	G	NM_178168		6867247	+1	no_errors	ENST00000379831	ensembl	human	known	70_37	missense	SNP	0.772	C
OR1E1	8387	genome.wustl.edu	37	17	3301186	3301186	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:3301186C>G	ENST00000322608.2	-	1	518	c.519G>C	c.(517-519)gtG>gtC	p.V173V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	173					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						AGTGGGGGATCACATTGTCTG	0.498																																																	0													57.0	49.0	52.0					17																	3301186		2202	4298	6500	SO:0001819	synonymous_variant	8387			U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.519G>C	17.37:g.3301186C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V173	ENST00000322608.2	37	c.519	CCDS11024.1	17																																																																																			OR1E1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1E1	HGNC	protein_coding	OTTHUMT00000207303.1	C	NM_003553		3301186	-1	no_errors	ENST00000322608	ensembl	human	known	70_37	silent	SNP	0.071	G
OR1J4	26219	genome.wustl.edu	37	9	125281687	125281687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:125281687C>T	ENST00000340750.1	+	1	268	c.268C>T	c.(268-270)Caa>Taa	p.Q90*		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						AACTCAGGATCAATCCATTCT	0.413																																																	0													239.0	219.0	226.0					9																	125281687		2203	4300	6503	SO:0001587	stop_gained	26219			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.268C>T	9.37:g.125281687C>T	ENSP00000343521:p.Gln90*	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFM0|Q6IEZ3|Q96R89	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q90*	ENST00000340750.1	37	c.268	CCDS35122.1	9	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267579	0.23136	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	.	.	.	5.54	3.69	0.42338	.	0.981915	0.08225	U	0.978467	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3218	0.15885	0.24:0.6034:0.0:0.1566	.	.	.	.	X	256;90	.	ENSP00000407987:Q256X	Q	+	1	0	OR1J2;OR1J4	124321508	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	1.179000	0.31993	0.891000	0.36235	0.650000	0.86243	CAA	OR1J4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.413	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J4	HGNC	protein_coding	OTTHUMT00000053936.1	C			125281687	+1	no_errors	ENST00000340750	ensembl	human	known	70_37	nonsense	SNP	0.000	T
OR1S2	219958	genome.wustl.edu	37	11	57971060	57971060	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:57971060G>A	ENST00000302592.6	-	1	593	c.594C>T	c.(592-594)ctC>ctT	p.L198L		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGGACAGTTTGAGCAGAGGGG	0.418																																																	0													219.0	202.0	208.0					11																	57971060		2201	4296	6497	SO:0001819	synonymous_variant	219958			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.594C>T	11.37:g.57971060G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFG5|Q96R85	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L198	ENST00000302592.6	37	c.594	CCDS31545.1	11																																																																																			OR1S2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.418	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S2	HGNC	protein_coding	OTTHUMT00000394703.2	G	NM_001004459		57971060	-1	no_errors	ENST00000302592	ensembl	human	known	70_37	silent	SNP	0.073	A
OR2T6	254879	genome.wustl.edu	37	1	248551419	248551419	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:248551419C>G	ENST00000355728.2	+	1	510	c.510C>G	c.(508-510)gcC>gcG	p.A170A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGTTCTGTGCCTCTCACCAAA	0.547																																																	0													116.0	105.0	109.0					1																	248551419		2203	4300	6503	SO:0001819	synonymous_variant	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.510C>G	1.37:g.248551419C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE36	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A170	ENST00000355728.2	37	c.510	CCDS31114.1	1																																																																																			OR2T6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	C	NM_001005471		248551419	+1	no_errors	ENST00000355728	ensembl	human	known	70_37	silent	SNP	0.000	G
OR4C3	256144	genome.wustl.edu	37	11	48346648	48346648	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:48346648C>T	ENST00000319856.4	+	1	177	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGAGAGTTCTCTTTGTGGTCT	0.468																																																	0													147.0	131.0	136.0					11																	48346648		2201	4298	6499	SO:0001819	synonymous_variant	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.156C>T	11.37:g.48346648C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNF2|Q6IFB3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L52	ENST00000319856.4	37	c.156	CCDS31489.1	11																																																																																			OR4C3	-	prints_GPCR_Rhodpsn		0.468	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	C	NM_001004702		48346648	+1	no_errors	ENST00000319856	ensembl	human	known	70_37	silent	SNP	0.001	T
OR4D2	124538	genome.wustl.edu	37	17	56247563	56247563	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:56247563C>G	ENST00000545221.1	+	1	547	c.547C>G	c.(547-549)Caa>Gaa	p.Q183E		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGATGTTCCCCAAGTACTGAG	0.532																																																	0													171.0	149.0	156.0					17																	56247563		2203	4300	6503	SO:0001583	missense	124538				CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.547C>G	17.37:g.56247563C>G	ENSP00000441354:p.Gln183Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFN8|Q96R75	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q183E	ENST00000545221.1	37	c.547	CCDS32688.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099869	0.56183	.	.	ENSG00000255713	ENST00000545221	T	0.00152	8.66	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000074	T	0.00468	0.0015	M	0.72118	2.19	0.31187	N	0.701367	D	0.71674	0.998	D	0.85130	0.997	T	0.63919	-0.6528	10	0.54805	T	0.06	-8.5017	17.7075	0.88312	0.0:1.0:0.0:0.0	.	183	P58180	OR4D2_HUMAN	E	183	ENSP00000441354:Q183E	ENSP00000441354:Q183E	Q	+	1	0	OR4D2	53602562	0.003000	0.15002	0.988000	0.46212	0.806000	0.45545	1.723000	0.38053	2.860000	0.98153	0.609000	0.83330	CAA	OR4D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.532	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D2	HGNC	protein_coding	OTTHUMT00000443366.1	C			56247563	+1	no_errors	ENST00000545221	ensembl	human	known	70_37	missense	SNP	0.957	G
OR52A1	23538	genome.wustl.edu	37	11	5172670	5172670	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:5172670G>C	ENST00000380367.1	-	2	1347	c.930C>G	c.(928-930)ttC>ttG	p.F310L	OR52A1_ENST00000328942.1_Missense_Mutation_p.F310L			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	310					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.F310L(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTATGAACAGAACATTTTTA	0.348																																																	1	Substitution - Missense(1)	breast(1)											116.0	126.0	122.0					11																	5172670		2201	4297	6498	SO:0001583	missense	23538			AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.930C>G	11.37:g.5172670G>C	ENSP00000369725:p.Phe310Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF31	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F310L	ENST00000380367.1	37	c.930	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369086	0.24771	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.31769	1.48;1.48	5.14	-7.02	0.01589	.	0.586420	0.15266	N	0.271536	T	0.09468	0.0233	N	0.13272	0.32	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.28554	-1.0040	10	0.14656	T	0.56	.	0.0271	0.00004	0.2841:0.2082:0.1904:0.3173	.	310	Q9UKL2	O52A1_HUMAN	L	310	ENSP00000369725:F310L;ENSP00000333684:F310L	ENSP00000333684:F310L	F	-	3	2	OR52A1	5129246	0.000000	0.05858	0.000000	0.03702	0.210000	0.24377	-0.154000	0.10130	-1.220000	0.02594	0.650000	0.86243	TTC	OR52A1	-	NULL		0.348	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	HGNC	protein_coding	OTTHUMT00000142810.2	G	NM_012375		5172670	-1	no_errors	ENST00000328942	ensembl	human	known	70_37	missense	SNP	0.000	C
OR5L2	26338	genome.wustl.edu	37	11	55595169	55595169	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55595169C>T	ENST00000378397.1	+	1	475	c.475C>T	c.(475-477)Cac>Tac	p.H159Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCTCTGATTCACTCGTCCTT	0.483										HNSCC(27;0.073)																																							0													217.0	189.0	198.0					11																	55595169		2200	4296	6496	SO:0001583	missense	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.475C>T	11.37:g.55595169C>T	ENSP00000367650:p.His159Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF66|Q96RB2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H159Y	ENST00000378397.1	37	c.475	CCDS31511.1	11	.	.	.	.	.	.	.	.	.	.	.	10.25	1.299675	0.23650	.	.	ENSG00000205030	ENST00000378397	T	0.00267	8.38	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00496	0.0016	M	0.71920	2.185	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54207	-0.8328	10	0.62326	D	0.03	-34.9027	12.8637	0.57928	0.163:0.837:0.0:0.0	.	159	Q8NGL0	OR5L2_HUMAN	Y	159	ENSP00000367650:H159Y	ENSP00000367650:H159Y	H	+	1	0	OR5L2	55351745	0.000000	0.05858	0.124000	0.21820	0.008000	0.06430	0.901000	0.28445	2.613000	0.88420	0.626000	0.83405	CAC	OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	C	NM_001004739		55595169	+1	no_errors	ENST00000378397	ensembl	human	known	70_37	missense	SNP	0.039	T
OR5W2	390148	genome.wustl.edu	37	11	55681195	55681195	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55681195C>G	ENST00000344514.1	-	1	863	c.864G>C	c.(862-864)ctG>ctC	p.L288L		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGCTATAAATCAGGGGGTTCA	0.348																																					Melanoma(48;171 1190 15239 43886 49348)												0													40.0	44.0	43.0					11																	55681195		2201	4296	6497	SO:0001819	synonymous_variant	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.864G>C	11.37:g.55681195C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L288	ENST00000344514.1	37	c.864	CCDS31513.1	11																																																																																			OR5W2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.348	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	HGNC	protein_coding	OTTHUMT00000391523.1	C	NM_001001960		55681195	-1	no_errors	ENST00000344514	ensembl	human	known	70_37	silent	SNP	0.816	G
OR5M1	390168	genome.wustl.edu	37	11	56380779	56380779	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:56380779G>T	ENST00000526538.1	-	1	199	c.200C>A	c.(199-201)tCc>tAc	p.S67Y		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTCTACAAAGGAGAGGTGGCC	0.463																																																	0													174.0	169.0	170.0					11																	56380779		1952	4155	6107	SO:0001583	missense	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.200C>A	11.37:g.56380779G>T	ENSP00000435416:p.Ser67Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF60|Q96RB6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S67Y	ENST00000526538.1	37	c.200	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125529	0.56721	.	.	ENSG00000255012	ENST00000526538	T	0.02085	4.46	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39475	N	0.001354	T	0.22781	0.0550	H	0.98936	4.375	0.27501	N	0.951999	D	0.89917	1.0	D	0.67231	0.95	T	0.47724	-0.9095	10	0.87932	D	0	-52.5691	14.3562	0.66740	0.0:0.0:1.0:0.0	.	67	Q8NGP8	OR5M1_HUMAN	Y	67	ENSP00000435416:S67Y	ENSP00000435416:S67Y	S	-	2	0	OR5M1	56137355	0.895000	0.30542	1.000000	0.80357	0.879000	0.50718	3.368000	0.52357	1.949000	0.56562	0.280000	0.19369	TCC	OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56380779	-1	no_errors	ENST00000526538	ensembl	human	known	70_37	missense	SNP	0.620	T
OR6C74	254783	genome.wustl.edu	37	12	55641088	55641088	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:55641088C>T	ENST00000343870.4	+	1	107	c.17C>T	c.(16-18)aCa>aTa	p.T6I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AACCATACAACAGTAGCAAAC	0.328																																																	0													132.0	128.0	129.0					12																	55641088		2202	4300	6502	SO:0001583	missense	254783				CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.17C>T	12.37:g.55641088C>T	ENSP00000342836:p.Thr6Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T6I	ENST00000343870.4	37	c.17	CCDS31816.1	12	.	.	.	.	.	.	.	.	.	.	c	9.667	1.145694	0.21288	.	.	ENSG00000197706	ENST00000343870	T	0.19394	2.15	4.83	-2.25	0.06888	.	0.581915	0.15362	N	0.266345	T	0.10551	0.0258	L	0.28608	0.87	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.18524	-1.0334	10	0.36615	T	0.2	.	2.2804	0.04112	0.2209:0.3064:0.3264:0.1463	.	6	A6NCV1	O6C74_HUMAN	I	6	ENSP00000342836:T6I	ENSP00000342836:T6I	T	+	2	0	OR6C74	53927355	0.000000	0.05858	0.000000	0.03702	0.325000	0.28411	-1.515000	0.02252	-0.195000	0.10382	0.551000	0.68910	ACA	OR6C74	-	NULL		0.328	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C74	HGNC	protein_coding	OTTHUMT00000382312.1	C			55641088	+1	no_errors	ENST00000343870	ensembl	human	known	70_37	missense	SNP	0.000	T
OR6J1	79549	genome.wustl.edu	37	14	23102873	23102873	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23102873G>T	ENST00000540461.1	-	1	843	c.844C>A	c.(844-846)Cca>Aca	p.P282T				Q8NGC5	OR6J1_HUMAN	olfactory receptor, family 6, subfamily J, member 1 (gene/pseudogene)	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TTGAGGAATGGAGTCACCACA	0.463																																																	0																																										SO:0001583	missense	79549			AC023226		14q11.2	2012-08-09	2012-04-20	2004-03-10	ENSG00000255804	ENSG00000255804		"""GPCR / Class A : Olfactory receptors"""	14707	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily J, member 1"""	OR6J2, OR6J1P			Standard	NG_002274		Approved			Q8NGC5	OTTHUMG00000168897	ENST00000540461.1:c.844C>A	14.37:g.23102873G>T	ENSP00000437629:p.Pro282Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282T	ENST00000540461.1	37	c.844		14	.	.	.	.	.	.	.	.	.	.	G	14.54	2.565366	0.45694	.	.	ENSG00000255804	ENST00000540461	T	0.00344	8.02	4.4	4.4	0.53042	.	.	.	.	.	T	0.00468	0.0015	.	.	.	0.31775	N	0.631649	.	.	.	.	.	.	T	0.57717	-0.7763	6	0.87932	D	0	.	14.4633	0.67467	0.0:0.0:1.0:0.0	.	.	.	.	T	282	ENSP00000437629:P282T	ENSP00000437629:P282T	P	-	1	0	OR6J1	22172713	1.000000	0.71417	0.987000	0.45799	0.579000	0.36224	5.934000	0.70138	1.990000	0.58119	0.555000	0.69702	CCA	OR6J1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.463	OR6J1-001	KNOWN	basic|appris_principal	protein_coding	OR6J1	HGNC	protein_coding	OTTHUMT00000401548.1	G			23102873	-1	no_errors	ENST00000540461	ensembl	human	known	70_37	missense	SNP	0.998	T
OR6N1	128372	genome.wustl.edu	37	1	158736195	158736195	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:158736195G>A	ENST00000335094.2	-	1	297	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCCAGAGAATGAAATGGTCTT	0.473																																																	0													79.0	75.0	76.0					1																	158736195		2203	4300	6503	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.278C>T	1.37:g.158736195G>A	ENSP00000335535:p.Ser93Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUU8|Q96R35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S93L	ENST00000335094.2	37	c.278	CCDS30905.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007184	0.75046	.	.	ENSG00000197403	ENST00000335094	T	0.00737	5.76	5.1	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000552	T	0.02807	0.0084	M	0.89904	3.07	0.38868	D	0.956636	D	0.76494	0.999	D	0.81914	0.995	T	0.18461	-1.0336	10	0.59425	D	0.04	-16.2817	12.7385	0.57238	0.0809:0.0:0.9191:0.0	.	93	Q8NGY5	OR6N1_HUMAN	L	93	ENSP00000335535:S93L	ENSP00000335535:S93L	S	-	2	0	OR6N1	157002819	1.000000	0.71417	0.969000	0.41365	0.944000	0.59088	6.005000	0.70716	1.356000	0.45884	0.655000	0.94253	TCA	OR6N1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.473	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6N1	HGNC	protein_coding	OTTHUMT00000059067.1	G	NM_001005185		158736195	-1	no_errors	ENST00000335094	ensembl	human	known	70_37	missense	SNP	0.999	A
OR8I2	120586	genome.wustl.edu	37	11	55861448	55861448	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55861448C>G	ENST00000302124.2	+	1	696	c.665C>G	c.(664-666)tCa>tGa	p.S222*		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCATCATCTCAGCCATCCTG	0.473																																																	0													138.0	121.0	126.0					11																	55861448		2201	4296	6497	SO:0001587	stop_gained	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.665C>G	11.37:g.55861448C>G	ENSP00000303864:p.Ser222*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNN4|Q6IFC0|Q96RC5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S222*	ENST00000302124.2	37	c.665	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	14.11	2.438947	0.43326	.	.	ENSG00000172154	ENST00000302124	.	.	.	4.33	2.39	0.29439	.	0.242092	0.21353	U	0.075939	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-1.3245	6.7426	0.23445	0.0:0.5937:0.0:0.4063	.	.	.	.	X	222	.	ENSP00000303864:S222X	S	+	2	0	OR8I2	55618024	0.000000	0.05858	0.967000	0.41034	0.700000	0.40528	-1.200000	0.03029	0.368000	0.24481	0.440000	0.28878	TCA	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		C	NM_001003750		55861448	+1	no_errors	ENST00000302124	ensembl	human	known	70_37	nonsense	SNP	0.205	G
OR8S1	341568	genome.wustl.edu	37	12	48919717	48919717	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:48919717C>T	ENST00000310194.1	+	1	303	c.303C>T	c.(301-303)gtC>gtT	p.V101V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TGGCTCAGGTCTTCTTTGTGT	0.522																																																	0													99.0	95.0	96.0					12																	48919717		2203	4300	6503	SO:0001819	synonymous_variant	341568				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.303C>T	12.37:g.48919717C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V101	ENST00000310194.1	37	c.303	CCDS31789.1	12																																																																																			OR8S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.522	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8S1	HGNC	protein_coding	OTTHUMT00000406881.1	C			48919717	+1	no_errors	ENST00000310194	ensembl	human	known	70_37	silent	SNP	0.836	T
OTOA	146183	genome.wustl.edu	37	16	21690505	21690505	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:21690505C>G	ENST00000286149.4	+	4	153	c.152C>G	c.(151-153)gCa>gGa	p.A51G	OTOA_ENST00000388958.3_Splice_Site_p.A51G			Q7RTW8	OTOAN_HUMAN	otoancorin	51					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CCCATTGTAGCACTGCTGGAT	0.358																																																	0													112.0	114.0	113.0					16																	21690505		2199	4300	6499	SO:0001630	splice_region_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.152-1C>G	16.37:g.21690505C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.A51G	ENST00000286149.4	37	c.152		16	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771702	0.49680	.	.	ENSG00000155719	ENST00000388958;ENST00000286149	T;T	0.70045	-0.45;-0.44	6.02	6.02	0.97574	.	0.172011	0.40469	N	0.001094	T	0.58764	0.2145	L	0.43923	1.385	0.80722	D	1	B	0.32693	0.38	B	0.30316	0.114	T	0.54866	-0.8229	9	.	.	.	.	16.0472	0.80727	0.0:1.0:0.0:0.0	.	51	E9PF51	.	G	51	ENSP00000373610:A51G;ENSP00000286149:A51G	.	A	+	2	0	OTOA	21598006	0.997000	0.39634	0.971000	0.41717	0.995000	0.86356	4.613000	0.61176	2.850000	0.98022	0.650000	0.86243	GCA	OTOA	-	NULL		0.358	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	C		Missense_Mutation	21690505	+1	no_errors	ENST00000286149	ensembl	human	known	70_37	missense	SNP	0.988	G
OTOF	9381	genome.wustl.edu	37	2	26691336	26691336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:26691336G>A	ENST00000272371.2	-	33	4156	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	OTOF_ENST00000339598.3_Nonsense_Mutation_p.R577*|OTOF_ENST00000403946.3_Nonsense_Mutation_p.R1344*|OTOF_ENST00000402415.3_Nonsense_Mutation_p.R654*|OTOF_ENST00000338581.6_Nonsense_Mutation_p.R577*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1344					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTGTTGTCGAAGTTGCTGC	0.542																																					GBM(102;732 1451 20652 24062 31372)												0													146.0	133.0	137.0					2																	26691336		2203	4300	6503	SO:0001587	stop_gained	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4030C>T	2.37:g.26691336G>A	ENSP00000272371:p.Arg1344*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R1344*	ENST00000272371.2	37	c.4030	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	G	44	10.851228	0.99477	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	.	.	.	5.62	4.66	0.58398	.	0.305652	0.18313	U	0.145027	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4064	16.0572	0.80814	0.0:0.0:0.857:0.143	.	.	.	.	X	577;577;654;1344;1344	.	ENSP00000272371:R1344X	R	-	1	2	OTOF	26544840	1.000000	0.71417	0.988000	0.46212	0.991000	0.79684	2.112000	0.41892	2.644000	0.89710	0.561000	0.74099	CGA	OTOF	-	NULL		0.542	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	G			26691336	-1	no_errors	ENST00000272371	ensembl	human	known	70_37	nonsense	SNP	0.656	A
OTX2	5015	genome.wustl.edu	37	14	57269054	57269054	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:57269054C>G	ENST00000555006.1	-	4	677	c.269G>C	c.(268-270)aGa>aCa	p.R90T	OTX2_ENST00000408990.3_Missense_Mutation_p.R90T|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000339475.5_Missense_Mutation_p.R98T|OTX2_ENST00000554788.1_3'UTR|RP11-1085N6.6_ENST00000602485.1_lincRNA			P32243	OTX2_HUMAN	orthodenticle homeobox 2	90			R -> S (in MCOPS5; does not affect the expression or nuclear localization of the protein but inhibits its DNA-binding activity as well as its transactivation capability; the protein is non- functional). {ECO:0000269|PubMed:20396904}.		axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GCACTTAGCTCTTCGATTCTT	0.418																																																	0													109.0	115.0	113.0					14																	57269054		2203	4300	6503	SO:0001583	missense	5015			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.269G>C	14.37:g.57269054C>G	ENSP00000452336:p.Arg90Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Otx2_TF,prints_Otx_TF	p.R98T	ENST00000555006.1	37	c.293	CCDS41960.1	14	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268493	0.59540	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5;-5.5	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.49916	D	0.000129	D	0.99802	0.9915	H	0.99994	5.4	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.987	D	0.96336	0.9247	10	0.87932	D	0	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	98;90	F1T0D1;P32243	.;OTX2_HUMAN	T	98;90;90;98;90	ENSP00000343819:R98T;ENSP00000386185:R90T;ENSP00000452336:R90T;ENSP00000451357:R98T;ENSP00000451272:R90T	ENSP00000343819:R98T	R	-	2	0	OTX2	56338807	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.798000	0.85924	2.809000	0.96659	0.557000	0.71058	AGA	OTX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.418	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1	C	NM_021728.		57269054	-1	no_errors	ENST00000339475	ensembl	human	known	70_37	missense	SNP	1.000	G
PA2G4	5036	genome.wustl.edu	37	12	56503680	56503680	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56503680G>C	ENST00000303305.6	+	7	1009	c.590G>C	c.(589-591)gGa>gCa	p.G197A	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.G197A	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	197					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GTCATCGATGGAGAAAAAACC	0.428																																																	0													118.0	109.0	112.0					12																	56503680		2203	4300	6503	SO:0001583	missense	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.590G>C	12.37:g.56503680G>C	ENSP00000302886:p.Gly197Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O43846|Q9UM59	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.G197A	ENST00000303305.6	37	c.590	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.161650	0.94727	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T	0.77098	-1.07;-1.07	5.55	5.55	0.83447	Peptidase M24, structural domain (3);	0.044774	0.85682	N	0.000000	D	0.83403	0.5247	L	0.47078	1.49	0.80722	D	1	B;P;P	0.42692	0.232;0.747;0.787	B;P;P	0.58013	0.047;0.62;0.831	T	0.79678	-0.1703	10	0.31617	T	0.26	.	18.6313	0.91360	0.0:0.0:1.0:0.0	.	197;197;197	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	A	197;197;226;197;197;186	ENSP00000302886:G197A;ENSP00000448557:G197A	ENSP00000302886:G197A	G	+	2	0	PA2G4	54789947	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.709000	0.98729	2.773000	0.95371	0.650000	0.86243	GGA	PA2G4	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.428	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	G	NM_006191		56503680	+1	no_errors	ENST00000303305	ensembl	human	known	70_37	missense	SNP	1.000	C
PA2G4	5036	genome.wustl.edu	37	12	56504386	56504386	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56504386C>T	ENST00000303305.6	+	9	1171	c.752C>T	c.(751-753)cCc>cTc	p.P251L	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.P251L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	251					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AAACGAGACCCCTCTAAACAG	0.433																																																	0													93.0	81.0	85.0					12																	56504386		2203	4300	6503	SO:0001583	missense	5036			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.752C>T	12.37:g.56504386C>T	ENSP00000302886:p.Pro251Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43846|Q9UM59	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.P251L	ENST00000303305.6	37	c.752	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443431	0.63067	.	.	ENSG00000170515	ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711	.	.	.	5.11	5.11	0.69529	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.37785	0.1016	L	0.35414	1.06	0.80722	D	1	P;B;B	0.43885	0.82;0.001;0.001	B;B;B	0.33339	0.162;0.002;0.006	T	0.25433	-1.0132	9	0.15066	T	0.55	.	17.668	0.88208	0.0:1.0:0.0:0.0	.	251;251;251	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	L	251;251;280;251;251	.	ENSP00000302886:P251L	P	+	2	0	PA2G4	54790653	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.650000	0.83521	2.552000	0.86080	0.655000	0.94253	CCC	PA2G4	-	superfamily_Pept_M24_structural-domain,tigrfam_Pap_1		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	C	NM_006191		56504386	+1	no_errors	ENST00000303305	ensembl	human	known	70_37	missense	SNP	1.000	T
PAAF1	80227	genome.wustl.edu	37	11	73611423	73611423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:73611423G>T	ENST00000310571.3	+	6	543	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	PAAF1_ENST00000544552.1_Nonsense_Mutation_p.E147*|PAAF1_ENST00000376384.5_Nonsense_Mutation_p.E147*|PAAF1_ENST00000541951.1_Nonsense_Mutation_p.E49*|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000535604.1_Nonsense_Mutation_p.E49*|PAAF1_ENST00000536003.1_Nonsense_Mutation_p.E147*|PAAF1_ENST00000544909.1_Nonsense_Mutation_p.E165*	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	164					viral process (GO:0016032)	proteasome complex (GO:0000502)				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ATGGTCAGCTGAAGATGCTAG	0.478																																																	0													136.0	135.0	135.0					11																	73611423		2200	4293	6493	SO:0001587	stop_gained	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.490G>T	11.37:g.73611423G>T	ENSP00000311665:p.Glu164*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E164*	ENST00000310571.3	37	c.490	CCDS8226.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.266931|7.266931	0.98175|0.98175	.|.	.|.	ENSG00000175575|ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000504441;ENST00000543814;ENST00000535604;ENST00000542293;ENST00000536003;ENST00000544552;ENST00000546039;ENST00000376384;ENST00000536582;ENST00000544909|ENST00000540659	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.149295|.	0.46145|.	D|.	0.000314|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.21014|.	T|.	0.42|.	-10.4796|-10.4796	18.4967|18.4967	0.90867|0.90867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	49;164;147;147;49;49;147;147;28;147;142;165|4	.|.	ENSP00000311665:E164X|.	E|X	+|+	1|2	0|2	PAAF1|PAAF1	73289071|73289071	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.281000|3.281000	0.51685|0.51685	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GAA|TGA	PAAF1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.478	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAAF1	HGNC	protein_coding	OTTHUMT00000397885.1	G	NM_025155		73611423	+1	no_errors	ENST00000310571	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PABPC5	140886	genome.wustl.edu	37	X	90690684	90690684	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:90690684G>A	ENST00000312600.3	+	2	322	c.108G>A	c.(106-108)aaG>aaA	p.K36K	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGCTCTATAAGAAGTTCAGGC	0.572																																																	0													57.0	45.0	49.0					X																	90690684		2203	4300	6503	SO:0001819	synonymous_variant	140886			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.108G>A	X.37:g.90690684G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K240|Q5JQF4|Q6P529|Q9UFE5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.K36	ENST00000312600.3	37	c.108	CCDS14460.1	X																																																																																			PABPC5	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234		0.572	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	HGNC	protein_coding	OTTHUMT00000057429.1	G	NM_080832		90690684	+1	no_errors	ENST00000312600	ensembl	human	known	70_37	silent	SNP	1.000	A
PABPN1	8106	genome.wustl.edu	37	14	23793450	23793450	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:23793450C>G	ENST00000216727.4	+	6	1014	c.833C>G	c.(832-834)tCt>tGt	p.S278C	BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.S305C|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.S305C|PABPN1_ENST00000556821.1_Missense_Mutation_p.S150C|AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000397276.2_Missense_Mutation_p.S278C|PABPN1_ENST00000557702.1_Missense_Mutation_p.S150C	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	278	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGCTCCCGCTCTCGATTCTAC	0.602																																																	0													83.0	84.0	83.0					14																	23793450		2203	4300	6503	SO:0001583	missense	8106			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.833C>G	14.37:g.23793450C>G	ENSP00000216727:p.Ser278Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS49|O43484	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S278C	ENST00000216727.4	37	c.833	CCDS9592.1	14	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974399	0.34848	.	.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	T;T;T;T;T;T	0.58652	2.83;2.83;0.32;0.77;2.15;2.15	5.47	5.47	0.80525	.	0.254028	0.39341	N	0.001387	T	0.65428	0.2690	L	0.29908	0.895	0.41231	D	0.986578	B;D;B	0.76494	0.176;0.999;0.164	B;D;B	0.66847	0.017;0.947;0.092	T	0.63817	-0.6551	10	0.36615	T	0.2	-22.1732	18.1036	0.89513	0.0:1.0:0.0:0.0	.	278;278;305	Q86U42;Q86U42-2;G3V5R7	PABP2_HUMAN;.;.	C	305;305;278;278;150;150	ENSP00000451320:S305C;ENSP00000452479:S305C;ENSP00000216727:S278C;ENSP00000380446:S278C;ENSP00000451970:S150C;ENSP00000450724:S150C	ENSP00000216727:S278C	S	+	2	0	PABPN1;RP11-124D2.2	22863290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.313000	0.59160	2.581000	0.87130	0.655000	0.94253	TCT	PABPN1	-	NULL		0.602	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PABPN1	HGNC	protein_coding	OTTHUMT00000071767.4	C	NM_004643		23793450	+1	no_errors	ENST00000216727	ensembl	human	known	70_37	missense	SNP	1.000	G
MED29	55588	genome.wustl.edu	37	19	39880311	39880311	+	5'Flank	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:39880311G>C	ENST00000599213.2	+	0	0				PAF1_ENST00000221265.3_Missense_Mutation_p.I87M|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221266.7_Missense_Mutation_p.I77M|MED29_ENST00000594368.1_5'Flank|PAF1_ENST00000595564.1_Missense_Mutation_p.I77M			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TGTCAGGATTGATGAGATCGA	0.582																																																	0													157.0	129.0	139.0					19																	39880311		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880311G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	pfam_RNA_pol_II-assoc_Paf1	p.I87M	ENST00000599213.2	37	c.261		19	.	.	.	.	.	.	.	.	.	.	g	18.21	3.574553	0.65878	.	.	ENSG00000006712	ENST00000221265;ENST00000221266	.	.	.	5.29	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.75715	0.3887	M	0.76727	2.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.76634	-0.2887	9	0.62326	D	0.03	-23.6064	10.0809	0.42388	0.093:0.0:0.907:0.0	.	77;87	F8W9Q2;Q8N7H5	.;PAF1_HUMAN	M	87;77	.	ENSP00000221265:I87M	I	-	3	3	PAF1	44572151	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.496000	0.60360	2.752000	0.94435	0.558000	0.71614	ATC	PAF1	-	pfam_RNA_pol_II-assoc_Paf1		0.582	MED29-011	KNOWN	basic|appris_candidate	protein_coding	PAF1	HGNC	protein_coding	OTTHUMT00000470870.1	G	XM_290829		39880311	-1	no_errors	ENST00000221265	ensembl	human	known	70_37	missense	SNP	1.000	C
PAFAH1B2	5049	genome.wustl.edu	37	11	117038362	117038362	+	Missense_Mutation	SNP	A	A	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:117038362A>T	ENST00000527958.1	+	6	796	c.637A>T	c.(637-639)Atc>Ttc	p.I213F	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Intron|PAFAH1B2_ENST00000529887.2_Intron|PAFAH1B2_ENST00000530272.1_Intron	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	213					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		GCATGAACTGATCATGCAGTT	0.488			T	IGH@	MLCLS																																			Dom	yes		11	11q23	5049	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""		L	0													81.0	67.0	72.0					11																	117038362		2201	4296	6497	SO:0001583	missense	5049			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.637A>T	11.37:g.117038362A>T	ENSP00000435289:p.Ile213Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.I213F	ENST00000527958.1	37	c.637	CCDS8380.1	11	.	.	.	.	.	.	.	.	.	.	A	20.9	4.065264	0.76187	.	.	ENSG00000168092	ENST00000527958;ENST00000304808	T;T	0.56941	0.62;0.43	5.49	5.49	0.81192	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.053461	0.85682	D	0.000000	T	0.53981	0.1830	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	P	0.45406	0.479	T	0.61187	-0.7113	10	0.87932	D	0	-9.1136	15.5836	0.76465	1.0:0.0:0.0:0.0	.	213	P68402	PA1B2_HUMAN	F	213;159	ENSP00000435289:I213F;ENSP00000304006:I159F	ENSP00000304006:I159F	I	+	1	0	PAFAH1B2	116543572	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.227000	0.65305	2.096000	0.63516	0.460000	0.39030	ATC	PAFAH1B2	-	superfamily_Esterase_SGNH_hydro-type		0.488	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B2	HGNC	protein_coding	OTTHUMT00000392826.1	A	NM_002572		117038362	+1	no_errors	ENST00000527958	ensembl	human	known	70_37	missense	SNP	1.000	T
PAK7	57144	genome.wustl.edu	37	20	9543638	9543638	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:9543638C>A	ENST00000378429.3	-	7	2062	c.1516G>T	c.(1516-1518)Gtg>Ttg	p.V506L	PAK7_ENST00000353224.5_Missense_Mutation_p.V506L|PAK7_ENST00000378423.1_Missense_Mutation_p.V506L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	506	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATGTCAACCACATTGTCATGG	0.483																																																	0													195.0	174.0	181.0					20																	9543638		2203	4300	6503	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1516G>T	20.37:g.9543638C>A	ENSP00000367686:p.Val506Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.V506L	ENST00000378429.3	37	c.1516	CCDS13107.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.268986	0.95429	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.67345	-0.26;-0.26;-0.26	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	N	0.21240	0.645	0.80722	D	1	D;D	0.53312	0.959;0.959	P;P	0.59424	0.857;0.857	T	0.65631	-0.6121	9	.	.	.	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	506;506	B0AZM9;Q9P286	.;PAK7_HUMAN	L	506;506;506;454	ENSP00000367686:V506L;ENSP00000322957:V506L;ENSP00000367679:V506L	.	V	-	1	0	PAK7	9491638	1.000000	0.71417	0.998000	0.56505	0.732000	0.41865	7.747000	0.85070	2.941000	0.99782	0.655000	0.94253	GTG	PAK7	-	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		0.483	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PAK7	HGNC	protein_coding	OTTHUMT00000077962.1	C			9543638	-1	no_errors	ENST00000353224	ensembl	human	known	70_37	missense	SNP	1.000	A
PALB2	79728	genome.wustl.edu	37	16	23641068	23641068	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:23641068C>T	ENST00000261584.4	-	5	2559	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	803	Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GGGACAGAGTCACAGTCACAG	0.488			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	partner and localizer of BRCA2		"""L, O, E"""	0													144.0	113.0	123.0					16																	23641068		2197	4300	6497	SO:0001583	missense	79728				CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.2407G>A	16.37:g.23641068C>T	ENSP00000261584:p.Asp803Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.D803N	ENST00000261584.4	37	c.2407	CCDS32406.1	16	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386193	0.25031	.	.	ENSG00000083093	ENST00000261584	T	0.18657	2.2	5.63	4.67	0.58626	.	0.389316	0.27371	N	0.019666	T	0.30572	0.0769	M	0.67953	2.075	0.09310	N	1	D	0.55800	0.973	P	0.50659	0.647	T	0.16928	-1.0386	10	0.17832	T	0.49	-2.7919	12.7456	0.57280	0.0:0.8358:0.1642:0.0	.	803	Q86YC2	PALB2_HUMAN	N	803	ENSP00000261584:D803N	ENSP00000261584:D803N	D	-	1	0	PALB2	23548569	0.032000	0.19561	0.007000	0.13788	0.097000	0.18754	2.108000	0.41854	1.351000	0.45789	0.655000	0.94253	GAC	PALB2	-	NULL		0.488	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALB2	HGNC	protein_coding	OTTHUMT00000435287.2	C	NM_024675		23641068	-1	no_errors	ENST00000261584	ensembl	human	known	70_37	missense	SNP	0.042	T
PAPD7	11044	genome.wustl.edu	37	5	6749688	6749688	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:6749688C>G	ENST00000230859.6	+	9	984	c.855C>G	c.(853-855)atC>atG	p.I285M		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	515					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGAATCATCAAAGTAACTC	0.483																																					NSCLC(7;212 333 5667 23379 46547)												0													158.0	164.0	162.0					5																	6749688		2203	4300	6503	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.855C>G	5.37:g.6749688C>G	ENSP00000230859:p.Ile285Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Nucleotidyltransferase	p.I285M	ENST00000230859.6	37	c.855	CCDS3871.1	5	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930428	0.34096	.	.	ENSG00000112941	ENST00000230859	T	0.40225	1.04	5.61	5.61	0.85477	.	0.152155	0.64402	D	0.000017	T	0.47432	0.1445	M	0.80616	2.505	0.53005	D	0.99996	B;B	0.23058	0.079;0.079	B;B	0.29267	0.1;0.1	T	0.50717	-0.8795	10	0.62326	D	0.03	-7.6396	10.1639	0.42868	0.0:0.8511:0.0:0.1489	.	285;285	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	M	285	ENSP00000230859:I285M	ENSP00000230859:I285M	I	+	3	3	PAPD7	6802688	0.989000	0.36119	1.000000	0.80357	0.827000	0.46813	0.217000	0.17603	2.793000	0.96121	0.655000	0.94253	ATC	PAPD7	-	NULL		0.483	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPD7	HGNC	protein_coding	OTTHUMT00000206904.1	C	NM_006999		6749688	+1	no_errors	ENST00000230859	ensembl	human	known	70_37	missense	SNP	1.000	G
PAPOLG	64895	genome.wustl.edu	37	2	61018955	61018955	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:61018955C>G	ENST00000238714.3	+	16	1705	c.1456C>G	c.(1456-1458)Cat>Gat	p.H486D		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	486					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TGAAGCAACTCATGTAAAGAA	0.323																																					GBM(183;1497 2932 21839 46797)												0													104.0	103.0	103.0					2																	61018955		2203	4300	6503	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1456C>G	2.37:g.61018955C>G	ENSP00000238714:p.His486Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.H486D	ENST00000238714.3	37	c.1456	CCDS1863.1	2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437115	0.83885	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	6.02	6.02	0.97574	Poly(A) polymerase, RNA-binding domain (2);Nucleotidyltransferase, class I, C-terminal-like (1);	0.091863	0.85682	D	0.000000	T	0.80939	0.4720	M	0.84948	2.725	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.926	D;D;P	0.79784	0.993;0.973;0.847	T	0.83041	-0.0157	9	0.87932	D	0	-12.0585	14.6632	0.68888	0.0:0.9293:0.0:0.0707	.	175;20;486	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	D	486;175;154	.	ENSP00000238714:H486D	H	+	1	0	PAPOLG	60872459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.761000	0.62243	2.865000	0.98341	0.655000	0.94253	CAT	PAPOLG	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase		0.323	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3	C	NM_022894		61018955	+1	no_errors	ENST00000238714	ensembl	human	known	70_37	missense	SNP	1.000	G
PAPSS1	9061	genome.wustl.edu	37	4	108641220	108641220	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:108641220G>C	ENST00000265174.4	-	1	333				PAPSS1_ENST00000511304.1_Intron	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1						3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GCTCCGGAACGAGCTGCTCCC	0.682																																																	0													35.0	34.0	34.0					4																	108641220		692	1591	2283	SO:0001627	intron_variant	9061			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.60+55C>G	4.37:g.108641220G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	RNA	SNP	-	NULL	ENST00000265174.4	37	NULL	CCDS3676.1	4																																																																																			PAPSS1	-	-		0.682	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS1	HGNC	protein_coding	OTTHUMT00000253946.2	G			108641220	-1	no_errors	ENST00000504987	ensembl	human	known	70_37	rna	SNP	0.000	C
PARP10	84875	genome.wustl.edu	37	8	145051698	145051698	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145051698G>A	ENST00000313028.7	-	11	3126	c.3032C>T	c.(3031-3033)tCc>tTc	p.S1011F	PARP10_ENST00000525773.1_Missense_Mutation_p.S1023F|PLEC_ENST00000436759.2_5'Flank|PLEC_ENST00000527096.1_5'Flank|PARP10_ENST00000524918.1_Missense_Mutation_p.S1002F	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	1011	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGTCGGGGGAAGCGCGGGG	0.692											OREG0019051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													22.0	20.0	20.0					8																	145051698		2145	4241	6386	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.3032C>T	8.37:g.145051698G>A	ENSP00000325618:p.Ser1011Phe	Somatic	1691	WXS	Illumina HiSeq	Phase_IV	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.S1011F	ENST00000313028.7	37	c.3032	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	g	19.32	3.805829	0.70682	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.10960	2.82;2.82;2.82	4.66	3.78	0.43462	Poly(ADP-ribose) polymerase, catalytic domain (1);	1.578340	0.03807	N	0.265371	T	0.16171	0.0389	L	0.53249	1.67	0.09310	N	0.999998	P;P	0.40476	0.718;0.718	B;B	0.40009	0.316;0.316	T	0.28933	-1.0028	10	0.54805	T	0.06	.	9.1747	0.37105	0.1041:0.0:0.8959:0.0	.	1023;1011	E9PNI7;Q53GL7	.;PAR10_HUMAN	F	1002;717;1011;1023	ENSP00000431620:S1002F;ENSP00000325618:S1011F;ENSP00000434776:S1023F	ENSP00000325618:S1011F	S	-	2	0	PARP10	145123686	0.003000	0.15002	0.102000	0.21198	0.253000	0.25986	-0.232000	0.09055	1.086000	0.41228	0.558000	0.71614	TCC	PARP10	-	pfscan_Poly(ADP-ribose)pol_cat_dom		0.692	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	HGNC	protein_coding	OTTHUMT00000383866.1	G	NM_032789		145051698	-1	no_errors	ENST00000313028	ensembl	human	known	70_37	missense	SNP	0.295	A
PBLD	64081	genome.wustl.edu	37	10	70048324	70048324	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:70048324C>T	ENST00000358769.2	-	8	809	c.607G>A	c.(607-609)Gag>Aag	p.E203K	PBLD_ENST00000309049.4_Missense_Mutation_p.E203K|PBLD_ENST00000336578.1_Missense_Mutation_p.E170K|PBLD_ENST00000432941.1_Missense_Mutation_p.E203K|PBLD_ENST00000495025.2_Missense_Mutation_p.E203K	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	203					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCACCAGGCTCTCCTTTAAGG	0.463																																																	0													98.0	92.0	94.0					10																	70048324		2203	4300	6503	SO:0001583	missense	64081			AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.607G>A	10.37:g.70048324C>T	ENSP00000351619:p.Glu203Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF	p.E203K	ENST00000358769.2	37	c.607	CCDS7277.2	10	.	.	.	.	.	.	.	.	.	.	C	1.227	-0.625318	0.03610	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.01	-3.66	0.04489	.	0.801078	0.11670	N	0.540927	T	0.16811	0.0404	L	0.35414	1.06	0.19775	N	0.999957	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.004	T	0.36407	-0.9749	10	0.12766	T	0.61	-3.248	7.2206	0.25985	0.0:0.279:0.4403:0.2807	.	203;203	C9JIM0;P30039	.;PBLD_HUMAN	K	170;203;203;203	ENSP00000338041:E170K;ENSP00000351619:E203K;ENSP00000308466:E203K;ENSP00000395534:E203K	ENSP00000308466:E203K	E	-	1	0	PBLD	69718330	0.879000	0.30193	0.395000	0.26283	0.473000	0.32948	-0.085000	0.11250	-0.552000	0.06167	-0.300000	0.09419	GAG	PBLD	-	pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF		0.463	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PBLD	HGNC	protein_coding	OTTHUMT00000048314.1	C	NM_022129		70048324	-1	no_errors	ENST00000309049	ensembl	human	known	70_37	missense	SNP	0.090	T
PBX2P1	5088	genome.wustl.edu	37	3	142896395	142896395	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:142896395G>A	ENST00000560287.1	+	0	1269									pre-B-cell leukemia homeobox 2 pseudogene 1																		AAGAGGCTGTGACCCCCTCTT	0.617																																																	0																																												5088					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142896395G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-		0.617	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	G	NG_002434		142896395	+1	no_errors	ENST00000560287	ensembl	human	known	70_37	rna	SNP	0.996	A
PCDH11X	27328	genome.wustl.edu	37	X	91133194	91133194	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:91133194C>T	ENST00000373094.1	+	2	2800	c.1955C>T	c.(1954-1956)tCa>tTa	p.S652L	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S652L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S652L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S652L|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S652L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S652L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S652L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.S652L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S652L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	652	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GGTAGAGTATCACGTTCTTCA	0.373																																					NSCLC(38;925 1092 2571 38200 45895)												0													59.0	52.0	55.0					X																	91133194		2202	4281	6483	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1955C>T	X.37:g.91133194C>T	ENSP00000362186:p.Ser652Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S652L	ENST00000373094.1	37	c.1955	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474409	0.43942	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.35	4.43	0.53597	Cadherin (4);Cadherin-like (1);	0.276324	0.36167	N	0.002746	T	0.48484	0.1502	L	0.42581	1.335	0.29349	N	0.865492	P;B;P;P;P;P;P;P	0.42161	0.486;0.431;0.73;0.73;0.73;0.772;0.486;0.486	B;B;P;P;P;P;B;B	0.49192	0.268;0.352;0.467;0.467;0.467;0.602;0.268;0.268	T	0.51872	-0.8650	10	0.87932	D	0	.	10.1408	0.42734	0.3843:0.6157:0.0:0.0	.	652;652;652;652;652;652;652;652	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	L	652	ENSP00000378746:S652L;ENSP00000362186:S652L;ENSP00000362189:S652L;ENSP00000355040:S652L;ENSP00000362180:S652L;ENSP00000423762:S652L;ENSP00000355105:S652L;ENSP00000384758:S652L;ENSP00000298274:S652L	ENSP00000298274:S652L	S	+	2	0	PCDH11X	91019850	0.991000	0.36638	0.971000	0.41717	0.981000	0.71138	2.888000	0.48594	2.212000	0.71576	0.415000	0.27848	TCA	PCDH11X	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91133194	+1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	0.951	T
PCDH20	64881	genome.wustl.edu	37	13	61987593	61987593	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:61987593C>A	ENST00000409186.1	-	5	2744	c.639G>T	c.(637-639)caG>caT	p.Q213H	PCDH20_ENST00000409204.4_Missense_Mutation_p.Q213H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACACCGAGATCTGGGAAACAG	0.527																																																	0													110.0	99.0	103.0					13																	61987593		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.639G>T	13.37:g.61987593C>A	ENSP00000386653:p.Gln213His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q213H	ENST00000409186.1	37	c.639	CCDS9442.2	13	.	.	.	.	.	.	.	.	.	.	c	13.61	2.288641	0.40494	.	.	ENSG00000197991	ENST00000409204;ENST00000409186	T;T	0.67865	-0.29;-0.29	5.76	-4.44	0.03557	.	0.303615	0.28549	N	0.014942	T	0.41743	0.1172	N	0.10916	0.065	0.27608	N	0.94876	B	0.02656	0.0	B	0.04013	0.001	T	0.09271	-1.0682	10	0.54805	T	0.06	.	12.5375	0.56150	0.0:0.7324:0.0778:0.1897	.	213	A8K1K9	.	H	213	ENSP00000387250:Q213H;ENSP00000386653:Q213H	ENSP00000386653:Q213H	Q	-	3	2	PCDH20	60885594	0.174000	0.23070	0.275000	0.24674	0.932000	0.56968	-0.391000	0.07323	-1.268000	0.02439	-0.810000	0.03169	CAG	PCDH20	-	superfamily_Cadherin-like,pfscan_Cadherin		0.527	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	C	NM_022843		61987593	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	missense	SNP	0.975	A
PCDHA10	56139	genome.wustl.edu	37	5	140237263	140237263	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140237263C>T	ENST00000307360.5	+	1	1630	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	544	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCCGCCTCTGGGCAGCAA	0.697																																																	0													51.0	55.0	54.0					5																	140237263		2196	4268	6464	SO:0001819	synonymous_variant	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1630C>T	5.37:g.140237263C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L544	ENST00000307360.5	37	c.1630	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	C	NM_018901		140237263	+1	no_errors	ENST00000307360	ensembl	human	known	70_37	silent	SNP	0.990	T
PCDHB3	56132	genome.wustl.edu	37	5	140480724	140480724	+	Missense_Mutation	SNP	G	G	C	rs371396257		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140480724G>C	ENST00000231130.2	+	1	491	c.491G>C	c.(490-492)aGa>aCa	p.R164T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	164	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGTGGGAAGAAACAGCCTC	0.463																																																	0													93.0	95.0	94.0					5																	140480724		2203	4300	6503	SO:0001583	missense	56132			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.491G>C	5.37:g.140480724G>C	ENSP00000231130:p.Arg164Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8P2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R164T	ENST00000231130.2	37	c.491	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	G	3.137	-0.177146	0.06380	.	.	ENSG00000113205	ENST00000231130	T	0.50277	0.75	5.08	0.149	0.14863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.17874	0.0429	N	0.02865	-0.47	0.09310	N	1	B	0.25667	0.131	B	0.32393	0.145	T	0.25467	-1.0131	9	0.12766	T	0.61	.	0.2185	0.00165	0.3243:0.1409:0.2476:0.2872	.	164	Q9Y5E6	PCDB3_HUMAN	T	164	ENSP00000231130:R164T	ENSP00000231130:R164T	R	+	2	0	PCDHB3	140460908	0.000000	0.05858	0.189000	0.23252	0.997000	0.91878	-3.708000	0.00387	0.011000	0.14865	0.655000	0.94253	AGA	PCDHB3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.463	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	HGNC	protein_coding	OTTHUMT00000251817.2	G	NM_018937		140480724	+1	no_errors	ENST00000231130	ensembl	human	known	70_37	missense	SNP	0.000	C
PCDHGB1	56104	genome.wustl.edu	37	5	140731835	140731835	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140731835G>C	ENST00000523390.1	+	1	2008	c.2008G>C	c.(2008-2010)Gac>Cac	p.D670H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	670	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTATTGCCAGACCTCAGCGA	0.622																																																	0													104.0	119.0	114.0					5																	140731835		2161	4266	6427	SO:0001583	missense	56104			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2008G>C	5.37:g.140731835G>C	ENSP00000429273:p.Asp670His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY75|Q9Y5C8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D670H	ENST00000523390.1	37	c.2008	CCDS54923.1	5	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456015	0.63401	.	.	ENSG00000254221	ENST00000523390	T	0.52057	0.68	5.22	4.35	0.52113	Cadherin (1);	.	.	.	.	T	0.58293	0.2112	L	0.45352	1.415	0.31717	N	0.638751	D;P	0.76494	0.999;0.901	D;B	0.72982	0.979;0.387	T	0.64054	-0.6497	9	0.87932	D	0	.	10.1149	0.42585	0.1563:0.0:0.8437:0.0	.	670;670	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	H	670	ENSP00000429273:D670H	ENSP00000429273:D670H	D	+	1	0	PCDHGB1	140712019	1.000000	0.71417	0.115000	0.21578	0.021000	0.10359	6.188000	0.72045	1.349000	0.45751	-0.258000	0.10820	GAC	PCDHGB1	-	pfscan_Cadherin		0.622	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	G	NM_018922		140731835	+1	no_errors	ENST00000523390	ensembl	human	known	70_37	missense	SNP	0.941	C
PCDHGA5	56110	genome.wustl.edu	37	5	140746301	140746301	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140746301G>C	ENST00000518069.1	+	1	2404	c.2404G>C	c.(2404-2406)Gaa>Caa	p.E802Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	802					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAACAAAGAAGAACGGCG	0.428																																																	0													111.0	122.0	118.0					5																	140746301		2149	4267	6416	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.2404G>C	5.37:g.140746301G>C	ENSP00000429834:p.Glu802Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E802Q	ENST00000518069.1	37	c.2404	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	1.454	-0.564115	0.03939	.	.	ENSG00000253485	ENST00000518069	D	0.94897	-3.55	5.05	1.1	0.20463	.	.	.	.	.	D	0.93419	0.7901	M	0.69248	2.105	0.09310	N	1	P;B	0.47034	0.889;0.054	P;B	0.48454	0.578;0.025	D	0.85142	0.0981	9	0.30854	T	0.27	.	8.1587	0.31185	0.4526:0.0:0.5474:0.0	.	802;802	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Q	802	ENSP00000429834:E802Q	ENSP00000429834:E802Q	E	+	1	0	PCDHGA5	140726485	0.984000	0.35163	0.025000	0.17156	0.278000	0.26855	1.827000	0.39102	0.234000	0.21139	-0.156000	0.13503	GAA	PCDHGA5	-	NULL		0.428	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140746301	+1	no_errors	ENST00000518069	ensembl	human	known	70_37	missense	SNP	0.089	C
PCDHGB3	56102	genome.wustl.edu	37	5	140806773	140806773	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140806773G>A	ENST00000576222.1	+	1	2546				PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB8P_ENST00000502926.1_RNA	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAGACTTCGAATTTCGTAG	0.368																																																	0																																										SO:0001627	intron_variant	56120			AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+54397G>A	5.37:g.140806773G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E229|Q9Y5C7	RNA	SNP	-	NULL	ENST00000576222.1	37	NULL	CCDS58980.1	5																																																																																			PCDHGB8P	-	-		0.368	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB8P	HGNC	protein_coding	OTTHUMT00000437094.1	G	NM_018924		140806773	+1	no_errors	ENST00000502926	ensembl	human	known	70_37	rna	SNP	1.000	A
PCLO	27445	genome.wustl.edu	37	7	82580629	82580629	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:82580629G>A	ENST00000333891.9	-	6	9612	c.9275C>T	c.(9274-9276)tCa>tTa	p.S3092L	PCLO_ENST00000423517.2_Missense_Mutation_p.S3092L|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTGCTACTGAAGAATAGAC	0.473																																																	0													109.0	107.0	107.0					7																	82580629		1993	4168	6161	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9275C>T	7.37:g.82580629G>A	ENSP00000334319:p.Ser3092Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.S3092L	ENST00000333891.9	37	c.9275	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000157	0.35320	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21031	2.03;2.03	5.37	5.37	0.77165	.	.	.	.	.	T	0.46112	0.1376	M	0.63843	1.955	0.80722	D	1	P;D;D	0.76494	0.941;0.999;0.999	P;D;D	0.74023	0.683;0.982;0.982	T	0.41627	-0.9498	9	0.87932	D	0	.	18.705	0.91633	0.0:0.0:1.0:0.0	.	3023;3092;3092	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3023;3092;3092	ENSP00000334319:S3092L;ENSP00000388393:S3092L	ENSP00000334319:S3092L	S	-	2	0	PCLO	82418565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.789000	0.99068	2.524000	0.85096	0.563000	0.77884	TCA	PCLO	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	G	NM_014510		82580629	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	1.000	A
PCNXL4	64430	genome.wustl.edu	37	14	60591245	60591245	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:60591245G>A	ENST00000406854.1	+	9	2910	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	PCNXL4_ENST00000317623.4_Missense_Mutation_p.E552K|PCNXL4_ENST00000404681.2_Missense_Mutation_p.E786K|PCNXL4_ENST00000406949.1_Missense_Mutation_p.E552K|PCNXL4_ENST00000535349.1_5'UTR			Q63HM2	PCX4_HUMAN	pecanex-like 4 (Drosophila)	786						integral component of membrane (GO:0016021)											TCACAACACTGAAAATAAAGG	0.378																																																	0													108.0	117.0	114.0					14																	60591245		2203	4299	6502	SO:0001583	missense	64430			AK022861		14q23.1	2012-07-18	2012-07-18	2012-07-18	ENSG00000126773	ENSG00000126773			20349	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 135"""	C14orf135			Standard	NM_022495		Approved		uc001xer.4	Q63HM2	OTTHUMG00000150361	ENST00000406854.1:c.2356G>A	14.37:g.60591245G>A	ENSP00000384801:p.Glu786Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXM2|Q9BQG8|Q9H9F2	Missense_Mutation	SNP	pfam_Pecanex	p.E786K	ENST00000406854.1	37	c.2356		14	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988834	0.35131	.	.	ENSG00000126773	ENST00000317623;ENST00000406854;ENST00000406949;ENST00000404681	T;T;T;T	0.23348	1.92;1.92;1.91;1.92	5.39	5.39	0.77823	.	0.590551	0.19209	N	0.119966	T	0.24928	0.0605	L	0.60455	1.87	0.38165	D	0.939145	B;B	0.13145	0.007;0.006	B;B	0.12156	0.004;0.007	T	0.07139	-1.0788	10	0.20046	T	0.44	.	11.0554	0.47915	0.0719:0.1303:0.7977:0.0	.	786;552	Q63HM2;B5MC47	CN135_HUMAN;.	K	552;786;552;786	ENSP00000317396:E552K;ENSP00000384801:E786K;ENSP00000385201:E552K;ENSP00000385713:E786K	ENSP00000317396:E552K	E	+	1	0	C14orf135	59660998	0.015000	0.18098	0.079000	0.20413	0.802000	0.45316	1.318000	0.33643	2.672000	0.90937	0.650000	0.86243	GAA	PCNXL4	-	NULL		0.378	PCNXL4-005	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PCNXL4	HGNC	protein_coding	OTTHUMT00000317847.1	G	NM_022495		60591245	+1	no_errors	ENST00000404681	ensembl	human	known	70_37	missense	SNP	0.041	A
PCNX	22990	genome.wustl.edu	37	14	71513704	71513704	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:71513704G>C	ENST00000304743.2	+	21	4488	c.4042G>C	c.(4042-4044)Gag>Cag	p.E1348Q	PCNX_ENST00000439984.3_Missense_Mutation_p.E1237Q|PCNX_ENST00000238570.5_Missense_Mutation_p.E1348Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1348						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GATGTGGTTTGAGAAACTTCA	0.358																																																	0													112.0	102.0	105.0					14																	71513704		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.4042G>C	14.37:g.71513704G>C	ENSP00000304192:p.Glu1348Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.E1348Q	ENST00000304743.2	37	c.4042	CCDS9806.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.1|20.1	3.933171|3.933171	0.73442|0.73442	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.21734|.	2.28;2.29;1.99|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83188|0.83188	0.5200|0.5200	M|M	0.87269|0.87269	2.87|2.87	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.996;1.0;0.999|.	D;D;D|.	0.91635|.	0.991;0.999;0.994|.	D|D	0.85990|0.85990	0.1488|0.1488	10|5	0.87932|.	D|.	0|.	.|.	18.2092|18.2092	0.89865|0.89865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1348;1237;1348|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	Q|F	1348;1348;1237|406	ENSP00000304192:E1348Q;ENSP00000238570:E1348Q;ENSP00000396617:E1237Q|.	ENSP00000238570:E1348Q|.	E|L	+|+	1|3	0|2	PCNX|PCNX	70583457|70583457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.813000|9.813000	0.99286|0.99286	2.363000|2.363000	0.80096|0.80096	0.455000|0.455000	0.32223|0.32223	GAG|TTG	PCNX	-	NULL		0.358	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	G	NM_014982		71513704	+1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	1.000	C
PCSK5	5125	genome.wustl.edu	37	9	78911633	78911633	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:78911633G>T	ENST00000545128.1	+	27	3913	c.3375G>T	c.(3373-3375)atG>atT	p.M1125I		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1125	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ACCAAGAAATGGGAGAATGTG	0.532																																																	0													76.0	68.0	70.0					9																	78911633		876	1991	2867	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3375G>T	9.37:g.78911633G>T	ENSP00000446280:p.Met1125Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.M1125I	ENST00000545128.1	37	c.3375	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347558	0.24426	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.28666	1.63;1.6	5.78	1.62	0.23740	.	1.219030	0.05231	N	0.510327	T	0.10294	0.0252	N	0.02539	-0.55	0.19575	N	0.999967	.	.	.	.	.	.	T	0.30268	-0.9984	8	0.18710	T	0.47	-0.1142	1.1003	0.01682	0.2351:0.1627:0.4336:0.1686	.	.	.	.	I	1125;828;798	ENSP00000446280:M1125I;ENSP00000411654:M798I	ENSP00000365945:M828I	M	+	3	0	PCSK5	78101453	0.158000	0.22850	0.873000	0.34254	0.992000	0.81027	0.293000	0.19029	1.450000	0.47717	0.655000	0.94253	ATG	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.532	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78911633	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.274	T
PCSK5	5125	genome.wustl.edu	37	9	78943113	78943113	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:78943113G>A	ENST00000545128.1	+	32	4985	c.4447G>A	c.(4447-4449)Gag>Aag	p.E1483K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1483	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGGCCGGCGGAGGACCAGTG	0.562																																																	0													186.0	168.0	173.0					9																	78943113		876	1991	2867	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4447G>A	9.37:g.78943113G>A	ENSP00000446280:p.Glu1483Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.E1483K	ENST00000545128.1	37	c.4447	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	5.213	0.224766	0.09916	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.62788	-0.0;-0.0	5.5	1.24	0.21308	.	0.360551	0.28790	N	0.014139	T	0.54415	0.1857	L	0.57130	1.785	0.18873	N	0.999984	.	.	.	.	.	.	T	0.43196	-0.9406	8	0.12430	T	0.62	-4.3562	7.8735	0.29580	0.145:0.2409:0.6141:0.0	.	.	.	.	K	1483;1213;1183	ENSP00000446280:E1483K;ENSP00000411654:E1183K	ENSP00000365945:E1213K	E	+	1	0	PCSK5	78132933	0.796000	0.28864	0.029000	0.17559	0.014000	0.08584	0.984000	0.29565	0.026000	0.15269	-1.058000	0.02302	GAG	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom		0.562	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78943113	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.035	A
PCSK5	5125	genome.wustl.edu	37	9	78968979	78968979	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:78968979G>C	ENST00000545128.1	+	36	5555	c.5017G>C	c.(5017-5019)Gag>Cag	p.E1673Q		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1673	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAAATGCCACGAGAGCTGCAT	0.517																																																	0													30.0	26.0	27.0					9																	78968979		876	1991	2867	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5017G>C	9.37:g.78968979G>C	ENSP00000446280:p.Glu1673Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.E1673Q	ENST00000545128.1	37	c.5017	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258885	0.59321	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.62788	0.0;0.0	5.92	5.92	0.95590	.	0.384340	0.29126	N	0.013065	T	0.61874	0.2382	L	0.43701	1.375	0.37452	D	0.914855	.	.	.	.	.	.	T	0.58803	-0.7572	8	0.15499	T	0.54	-19.5576	14.4839	0.67603	0.0718:0.0:0.9282:0.0	.	.	.	.	Q	1673;1403;1373	ENSP00000446280:E1673Q;ENSP00000411654:E1373Q	ENSP00000365945:E1403Q	E	+	1	0	PCSK5	78158799	0.003000	0.15002	0.986000	0.45419	0.869000	0.49853	0.911000	0.28584	2.813000	0.96785	0.561000	0.74099	GAG	PCSK5	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat		0.517	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78968979	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.986	C
PCSK6	5046	genome.wustl.edu	37	15	101865104	101865104	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:101865104C>T	ENST00000348070.1	-	18	2324	c.2325G>A	c.(2323-2325)gaG>gaA	p.E775E	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.E762E	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	776	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTGTTCATCTCCTGGTGGT	0.562																																																	0													56.0	60.0	59.0					15																	101865104		2011	4160	6171	SO:0001819	synonymous_variant	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2325G>A	15.37:g.101865104C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.E775	ENST00000348070.1	37	c.2325		15																																																																																			PCSK6	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom		0.562	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		C	NM_002570		101865104	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	silent	SNP	0.014	T
PDCD6IP	10015	genome.wustl.edu	37	3	33896794	33896794	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:33896794C>G	ENST00000307296.3	+	15	2497				PDCD6IP_ENST00000457054.2_Intron			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						AAAGAATTTTCTTTTAAAAAA	0.318																																																	0													29.0	28.0	28.0					3																	33896794		2201	4293	6494	SO:0001627	intron_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2120+42C>G	3.37:g.33896794C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	RNA	SNP	-	NULL	ENST00000307296.3	37	NULL	CCDS2660.1	3																																																																																			PDCD6IP	-	-		0.318	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	C			33896794	+1	no_errors	ENST00000495235	ensembl	human	known	70_37	rna	SNP	0.002	G
PDCD6IP	10015	genome.wustl.edu	37	3	33896806	33896806	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:33896806C>T	ENST00000307296.3	+	15	2497				PDCD6IP_ENST00000457054.2_Intron			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTTAAAAAATCATGTAGAGAC	0.313																																																	0													36.0	26.0	29.0					3																	33896806		692	1583	2275	SO:0001627	intron_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.2120+54C>T	3.37:g.33896806C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	RNA	SNP	-	NULL	ENST00000307296.3	37	NULL	CCDS2660.1	3																																																																																			PDCD6IP	-	-		0.313	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDCD6IP	HGNC	protein_coding	OTTHUMT00000253251.2	C			33896806	+1	no_errors	ENST00000495235	ensembl	human	known	70_37	rna	SNP	0.000	T
PDE10A	10846	genome.wustl.edu	37	6	165756914	165756914	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:165756914G>A	ENST00000366882.1	-	20	2187	c.2033C>T	c.(2032-2034)aCg>aTg	p.T678M	PDE10A_ENST00000539869.2_Missense_Mutation_p.T688M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T678M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	678					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ATCATTTGCCGTCAATTTTGT	0.378																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													125.0	120.0	122.0					6																	165756914		2203	4300	6503	SO:0001583	missense	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2033C>T	6.37:g.165756914G>A	ENSP00000355847:p.Thr678Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.T688M	ENST00000366882.1	37	c.2063		6	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512963	0.85389	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76316	-1.01;-1.01	5.67	5.67	0.87782	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.044218	0.85682	D	0.000000	T	0.78755	0.4333	L	0.46885	1.475	0.58432	D	0.999999	D;D	0.71674	0.998;0.973	D;P	0.63793	0.918;0.554	T	0.80344	-0.1422	10	0.56958	D	0.05	.	12.6876	0.56956	0.0759:0.0:0.9241:0.0	.	688;678	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	678;706;688;678;677	ENSP00000355847:T678M;ENSP00000346435:T678M	ENSP00000341187:T688M	T	-	2	0	PDE10A	165676904	1.000000	0.71417	0.959000	0.39883	0.986000	0.74619	7.211000	0.77933	2.671000	0.90904	0.585000	0.79938	ACG	PDE10A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.378	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	G			165756914	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	missense	SNP	1.000	A
PDE1A	5136	genome.wustl.edu	37	2	183099171	183099171	+	Silent	SNP	G	G	A	rs375942859		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:183099171G>A	ENST00000410103.1	-	5	536	c.453C>T	c.(451-453)atC>atT	p.I151I	PDE1A_ENST00000351439.5_Silent_p.I135I|PDE1A_ENST00000409365.1_Silent_p.I135I|PDE1A_ENST00000536095.1_Silent_p.I47I|PDE1A_ENST00000456212.1_Silent_p.I151I|PDE1A_ENST00000331935.6_Silent_p.I151I|PDE1A_ENST00000435564.1_Silent_p.I151I|PDE1A_ENST00000358139.2_Silent_p.I151I|PDE1A_ENST00000346717.4_Silent_p.I117I|PDE1A_ENST00000482538.1_5'UTR	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	151					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TTAATGTTACGATGACAGCTG	0.269																																																	0													78.0	77.0	77.0					2																	183099171		2203	4295	6498	SO:0001819	synonymous_variant	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.453C>T	2.37:g.183099171G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.I151	ENST00000410103.1	37	c.453	CCDS33344.1	2																																																																																			PDE1A	-	NULL		0.269	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	G			183099171	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	silent	SNP	0.510	A
PDE4DIP	9659	genome.wustl.edu	37	1	144859829	144859829	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:144859829G>A	ENST00000369354.3	-	38	6444	c.6255C>T	c.(6253-6255)ctC>ctT	p.L2085L	PDE4DIP_ENST00000313382.9_Silent_p.L1979L|PDE4DIP_ENST00000369359.4_Silent_p.L2221L|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.L2170L|PDE4DIP_ENST00000369356.4_Silent_p.L2085L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2085					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGAGGGGCTGAGGCTGGCTT	0.572			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													63.0	61.0	62.0					1																	144859829		2203	4300	6503	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6255C>T	1.37:g.144859829G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L2085	ENST00000369354.3	37	c.6255	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL		0.572	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144859829	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	silent	SNP	0.000	A
PDE4DIP	9659	genome.wustl.edu	37	1	144915534	144915534	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:144915534G>T	ENST00000369354.3	-	14	2080	c.1891C>A	c.(1891-1893)Cta>Ata	p.L631I	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L794I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L697I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L768I|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L418I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L631I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.L794I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L631I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L768I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L631I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	631					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGATCACTTAGAAGGTCCTGC	0.493			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													286.0	257.0	267.0					1																	144915534		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.1891C>A	1.37:g.144915534G>T	ENSP00000358360:p.Leu631Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L631I	ENST00000369354.3	37	c.1891	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.620904	0.87460	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.71698	4.16;4.22;4.23;4.27;4.25;3.16;3.17;2.06;2.07;-0.59	5.2	5.2	0.72013	.	.	.	.	.	T	0.79452	0.4448	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.998;0.998;0.999;0.999;0.998	D;D;D;D;D;D	0.83275	0.946;0.981;0.996;0.987;0.994;0.996	T	0.78617	-0.2134	9	0.45353	T	0.12	.	16.6602	0.85238	0.0:0.0:1.0:0.0	.	794;418;631;794;697;631	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	I	697;631;631;794;768;768;631;631;794;794;418	ENSP00000327209:L697I;ENSP00000358360:L631I;ENSP00000358363:L631I;ENSP00000435654:L768I;ENSP00000358366:L768I;ENSP00000358357:L631I;ENSP00000358355:L631I;ENSP00000316434:L794I;ENSP00000433392:L794I;ENSP00000436791:L418I	ENSP00000327209:L697I	L	-	1	2	PDE4DIP	143626891	1.000000	0.71417	0.849000	0.33467	0.992000	0.81027	5.205000	0.65186	2.611000	0.88343	0.650000	0.86243	CTA	PDE4DIP	-	superfamily_ARM-type_fold		0.493	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144915534	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	0.992	T
PDHA1	5160	genome.wustl.edu	37	X	19372691	19372691	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:19372691C>A	ENST00000422285.2	+	6	698	c.593C>A	c.(592-594)gCt>gAt	p.A198D	PDHA1_ENST00000379804.1_5'Flank|PDHA1_ENST00000379806.5_Missense_Mutation_p.A236D|PDHA1_ENST00000540249.1_Intron|PDHA1_ENST00000545074.1_Missense_Mutation_p.A205D			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	198					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GGCGATGGTGCTGCTAACCAG	0.393																																																	0													217.0	189.0	199.0					X																	19372691		2203	4300	6503	SO:0001583	missense	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.593C>A	X.37:g.19372691C>A	ENSP00000394382:p.Ala198Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y	p.A236D	ENST00000422285.2	37	c.707	CCDS14192.1	X	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984695	0.93044	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000422285	D;D;D	0.98012	-4.66;-4.66;-4.66	5.28	5.28	0.74379	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.99456	0.9807	H	0.99820	4.81	0.80722	D	1	D;D;D;D	0.71674	0.987;0.976;0.998;0.976	D;P;D;P	0.77557	0.935;0.896;0.99;0.896	D	0.97814	1.0252	10	0.87932	D	0	-6.6959	18.3112	0.90200	0.0:1.0:0.0:0.0	.	205;198;236;198	B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;ODPA_HUMAN	D	236;205;198	ENSP00000369134:A236D;ENSP00000438550:A205D;ENSP00000394382:A198D	ENSP00000369134:A236D	A	+	2	0	PDHA1	19282612	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.382000	0.79729	2.351000	0.79841	0.594000	0.82650	GCT	PDHA1	-	pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y		0.393	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDHA1	HGNC	protein_coding	OTTHUMT00000055977.1	C			19372691	+1	no_errors	ENST00000379806	ensembl	human	known	70_37	missense	SNP	1.000	A
PDIA3	2923	genome.wustl.edu	37	15	44038783	44038783	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:44038783C>G	ENST00000300289.5	+	1	194	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	PDIA3_ENST00000469684.1_3'UTR|CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'UTR	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	16					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGCGCTGCTTCTTGCCGCGGC	0.716																																																	0													14.0	14.0	14.0					15																	44038783		2019	4025	6044	SO:0001583	missense	2923				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.46C>G	15.37:g.44038783C>G	ENSP00000300289:p.Leu16Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13453|Q14255|Q8IYF8|Q9UMU7	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase	p.L16V	ENST00000300289.5	37	c.46	CCDS10101.1	15	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707243	0.48412	.	.	ENSG00000167004	ENST00000300289;ENST00000538826	T	0.04406	3.63	4.94	2.08	0.27032	Thioredoxin-like fold (1);	0.752361	0.12257	N	0.485089	T	0.02727	0.0082	N	0.17278	0.47	0.80722	D	1	P	0.46987	0.888	B	0.35727	0.209	T	0.60576	-0.7236	10	0.30078	T	0.28	.	7.9625	0.30079	0.0:0.7458:0.0:0.2542	.	16	P30101	PDIA3_HUMAN	V	16	ENSP00000300289:L16V	ENSP00000300289:L16V	L	+	1	0	PDIA3	41826075	0.728000	0.28080	0.013000	0.15412	0.033000	0.12548	1.411000	0.34702	0.295000	0.22570	0.313000	0.20887	CTT	PDIA3	-	superfamily_Thioredoxin-like_fold		0.716	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA3	HGNC	protein_coding	OTTHUMT00000103532.3	C	NM_005313		44038783	+1	no_errors	ENST00000300289	ensembl	human	known	70_37	missense	SNP	0.535	G
PDK1	5163	genome.wustl.edu	37	2	173451105	173451105	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:173451105G>A	ENST00000282077.3	+	9	1227	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	PDK1_ENST00000410055.1_Missense_Mutation_p.A349T|PDK1_ENST00000543905.1_Missense_Mutation_p.A273T|PDK1_ENST00000392571.2_Missense_Mutation_p.A369T|PDK1_ENST00000544863.1_Missense_Mutation_p.A194T			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	349	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GACCTCCCGCGCAGTGCCTCT	0.448									Autosomal Dominant Polycystic Kidney Disease																																								0													94.0	79.0	84.0					2																	173451105		2203	4300	6503	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1045G>A	2.37:g.173451105G>A	ENSP00000282077:p.Ala349Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core	p.A349T	ENST00000282077.3	37	c.1045	CCDS2250.1	2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779041	0.31502	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.3	5.3	0.74995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.049525	0.85682	D	0.000000	T	0.31389	0.0795	N	0.04335	-0.225	0.80722	D	1	B;B	0.30021	0.028;0.265	B;B	0.29785	0.007;0.107	T	0.21621	-1.0240	10	0.08837	T	0.75	-7.5807	18.9633	0.92685	0.0:0.0:1.0:0.0	.	349;369	Q15118;E9PD65	PDK1_HUMAN;.	T	273;194;349;369;349	ENSP00000438567:A273T;ENSP00000437502:A194T;ENSP00000282077:A349T;ENSP00000376352:A369T;ENSP00000386985:A349T	ENSP00000282077:A349T	A	+	1	0	PDK1	173159351	1.000000	0.71417	0.564000	0.28396	0.217000	0.24651	7.822000	0.86651	2.485000	0.83878	0.557000	0.71058	GCA	PDK1	-	pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core		0.448	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK1	HGNC	protein_coding	OTTHUMT00000255380.3	G	NM_002610		173451105	+1	no_errors	ENST00000282077	ensembl	human	known	70_37	missense	SNP	1.000	A
PDS5B	23047	genome.wustl.edu	37	13	33261335	33261335	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:33261335C>T	ENST00000315596.10	+	12	1454	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	423					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTTTACAGTCAGCAGCTGGA	0.323																																																	0													105.0	108.0	107.0					13																	33261335		1831	4080	5911	SO:0001583	missense	23047			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1268C>T	13.37:g.33261335C>T	ENSP00000313851:p.Ser423Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S423L	ENST00000315596.10	37	c.1268	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995368	0.54147	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.65	5.65	0.86999	Armadillo-like helical (1);Armadillo-type fold (1);	0.189457	0.44688	D	0.000430	T	0.50326	0.1609	L	0.34521	1.04	0.48040	D	0.999579	B;B	0.22851	0.071;0.076	B;B	0.23574	0.046;0.047	T	0.42120	-0.9470	9	0.11485	T	0.65	-0.8595	15.5658	0.76290	0.0:0.8628:0.1372:0.0	.	423;423	Q9NTI5;Q9NTI5-3	PDS5B_HUMAN;.	L	423	.	ENSP00000313851:S423L	S	+	2	0	PDS5B	32159335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.022000	0.49659	2.824000	0.97209	0.655000	0.94253	TCA	PDS5B	-	superfamily_ARM-type_fold		0.323	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	C	NM_015032		33261335	+1	no_errors	ENST00000315596	ensembl	human	known	70_37	missense	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32089706	32089706	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:32089706G>C	ENST00000438447.1	+	20	6540	c.6152G>C	c.(6151-6153)aGa>aCa	p.R2051T	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2051T			O15018	PDZD2_HUMAN	PDZ domain containing 2	2051					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCAGGGAACAGACAGAGTGAG	0.637																																																	0													70.0	77.0	75.0					5																	32089706		2203	4299	6502	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6152G>C	5.37:g.32089706G>C	ENSP00000402033:p.Arg2051Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R2051T	ENST00000438447.1	37	c.6152	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338835	0.41398	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07114	3.22;3.22	4.74	3.86	0.44501	.	0.822761	0.10815	N	0.631125	T	0.09024	0.0223	L	0.43152	1.355	0.09310	N	1	B	0.22346	0.068	B	0.18561	0.022	T	0.25984	-1.0116	10	0.48119	T	0.1	.	8.819	0.35014	0.1052:0.0:0.8948:0.0	.	2051	O15018	PDZD2_HUMAN	T	2051;1852;2051	ENSP00000402033:R2051T;ENSP00000282493:R2051T	ENSP00000282493:R2051T	R	+	2	0	PDZD2	32125463	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	0.411000	0.21115	0.975000	0.38392	0.655000	0.94253	AGA	PDZD2	-	NULL		0.637	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32089706	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	0.009	C
PDZD4	57595	genome.wustl.edu	37	X	153069804	153069804	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:153069804C>G	ENST00000164640.4	-	8	1505	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	PDZD4_ENST00000393758.2_Missense_Mutation_p.E363D|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Missense_Mutation_p.E329D	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	438						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTAGAGGCTCTCCTCCTCCA	0.622																																																	0													37.0	34.0	35.0					X																	153069804		2201	4294	6495	SO:0001583	missense	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1314G>C	X.37:g.153069804C>G	ENSP00000164640:p.Glu438Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E438D	ENST00000164640.4	37	c.1314	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	C	4.348	0.064032	0.08388	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.04862	3.54;3.54;3.75	4.97	4.09	0.47781	.	0.226724	0.44688	D	0.000429	T	0.08670	0.0215	L	0.48642	1.525	0.30454	N	0.775007	B;P;P;D;B	0.54207	0.093;0.761;0.932;0.965;0.048	B;B;B;P;B	0.47573	0.028;0.366;0.396;0.55;0.025	T	0.07790	-1.0754	10	0.29301	T	0.29	-23.436	9.1542	0.36983	0.0:0.8146:0.0:0.1854	.	329;444;438;363;342	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	D	438;363;342;329	ENSP00000164640:E438D;ENSP00000377355:E363D;ENSP00000442033:E329D	ENSP00000164640:E438D	E	-	3	2	PDZD4	152722998	0.986000	0.35501	0.959000	0.39883	0.959000	0.62525	0.523000	0.22925	0.864000	0.35578	0.436000	0.28706	GAG	PDZD4	-	NULL		0.622	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	C	NM_032512		153069804	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	missense	SNP	0.783	G
PDZD7	79955	genome.wustl.edu	37	10	102778905	102778905	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:102778905G>A	ENST00000370215.3	-	8	1223	c.998C>T	c.(997-999)tCc>tTc	p.S333F		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	333	Ser-rich.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGGGGCGCTGGAGGCGCACGA	0.716											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													5.0	5.0	5.0					10																	102778905		2024	4068	6092	SO:0001583	missense	79955			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.998C>T	10.37:g.102778905G>A	ENSP00000359234:p.Ser333Phe	Somatic	1369	WXS	Illumina HiSeq	Phase_IV	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S333F	ENST00000370215.3	37	c.998	CCDS31269.1	10	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317986	0.81469	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.15017	2.46	5.21	5.21	0.72293	.	0.624103	0.16158	N	0.226930	T	0.43831	0.1265	M	0.65498	2.005	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.27905	-1.0060	10	0.59425	D	0.04	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	333;333	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	F	333	ENSP00000359234:S333F	ENSP00000359234:S333F	S	-	2	0	PDZD7	102768895	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	8.315000	0.89983	2.433000	0.82419	0.561000	0.74099	TCC	PDZD7	-	NULL		0.716	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	G	NM_024895		102778905	-1	no_errors	ENST00000370215	ensembl	human	known	70_37	missense	SNP	1.000	A
PFN4	375189	genome.wustl.edu	37	2	24345292	24345292	+	Silent	SNP	G	G	A	rs142319508		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:24345292G>A	ENST00000313213.4	-	2	485	c.114C>T	c.(112-114)ttC>ttT	p.F38F	FAM228B_ENST00000420135.2_5'Flank|PFN4_ENST00000465360.1_Intron|RP11-507M3.1_ENST00000584973.1_5'Flank|FAM228B_ENST00000407625.1_5'Flank	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	38					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTACATTGAAACCTGGTG	0.383																																																	0													119.0	121.0	120.0					2																	24345292		2203	4300	6503	SO:0001819	synonymous_variant	375189			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.114C>T	2.37:g.24345292G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL9	Silent	SNP	pfam_Profilin,superfamily_Profilin,smart_Profilin,prints_Profilin	p.F38	ENST00000313213.4	37	c.114	CCDS1709.1	2																																																																																			PFN4	-	pfam_Profilin,superfamily_Profilin,smart_Profilin		0.383	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFN4	HGNC	protein_coding	OTTHUMT00000207617.2	G	NM_199346		24345292	-1	no_errors	ENST00000313213	ensembl	human	known	70_37	silent	SNP	0.861	A
PGAP1	80055	genome.wustl.edu	37	2	197750186	197750186	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:197750186C>T	ENST00000354764.4	-	12	1348	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	PGAP1_ENST00000409475.1_Missense_Mutation_p.D412N|PGAP1_ENST00000409188.1_3'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	412					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CATGATAAATCAACCCCTTGC	0.279																																																	0													56.0	64.0	61.0					2																	197750186		2195	4290	6485	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1234G>A	2.37:g.197750186C>T	ENSP00000346809:p.Asp412Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.D412N	ENST00000354764.4	37	c.1234	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028619	0.75390	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.81914	0.995;0.984	T	0.66544	-0.5897	9	0.66056	D	0.02	-18.9763	14.225	0.65853	0.0:1.0:0.0:0.0	.	412;412	Q75T13-3;Q75T13	.;PGAP1_HUMAN	N	192;412;412	.	ENSP00000346809:D412N	D	-	1	0	PGAP1	197458431	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.205000	0.58466	2.732000	0.93576	0.591000	0.81541	GAT	PGAP1	-	NULL		0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	C	NM_024989		197750186	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	1.000	T
PGGT1B	5229	genome.wustl.edu	37	5	114598462	114598462	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:114598462G>A	ENST00000419445.1	-	1	107	c.87C>T	c.(85-87)ttC>ttT	p.F29F	CTC-428G20.6_ENST00000606615.1_RNA|PGGT1B_ENST00000379615.3_Silent_p.F29F	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	29					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		GGCAGCGCTGGAAAAATCGCA	0.617																																																	0													36.0	34.0	35.0					5																	114598462		2202	4300	6502	SO:0001819	synonymous_variant	5229				CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.87C>T	5.37:g.114598462G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5MJP9	Silent	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	p.F29	ENST00000419445.1	37	c.87	CCDS4116.1	5																																																																																			PGGT1B	-	superfamily_Terpenoid_cyclase/PrenylTrfase		0.617	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGGT1B	HGNC	protein_coding	OTTHUMT00000250855.2	G	NM_005023		114598462	-1	no_errors	ENST00000419445	ensembl	human	known	70_37	silent	SNP	1.000	A
PHACTR4	65979	genome.wustl.edu	37	1	28793215	28793215	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:28793215C>T	ENST00000373839.3	+	6	1020	c.759C>T	c.(757-759)gtC>gtT	p.V253V	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Silent_p.V263V	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	253	Pro-rich.				actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CTCATATGGTCCCTGCCAAGC	0.532																																																	0													76.0	80.0	79.0					1																	28793215		1994	4173	6167	SO:0001819	synonymous_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.759C>T	1.37:g.28793215C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Silent	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.V263	ENST00000373839.3	37	c.789	CCDS41293.1	1																																																																																			PHACTR4	-	NULL		0.532	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	C	NM_023923		28793215	+1	no_errors	ENST00000373836	ensembl	human	known	70_37	silent	SNP	0.761	T
PHB	5245	genome.wustl.edu	37	17	47486448	47486448	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:47486448C>T	ENST00000300408.3	-	5	538	c.466G>A	c.(466-468)Gag>Aag	p.E156K	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	156					cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GCGGCTCGCTCTGTAAGGTCG	0.582																																																	0													66.0	62.0	64.0					17																	47486448		2203	4300	6503	SO:0001583	missense	5245				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.466G>A	17.37:g.47486448C>T	ENSP00000300408:p.Glu156Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY47|Q4VBQ0	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.E156K	ENST00000300408.3	37	c.466	CCDS11548.1	17	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641101	0.47153	.	.	ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124;ENST00000512041;ENST00000446735	D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.93281	0.7859	L	0.56124	1.755	0.80722	D	1	P	0.35307	0.494	B	0.39935	0.314	D	0.91615	0.5306	10	0.20519	T	0.43	.	18.3101	0.90195	0.0:1.0:0.0:0.0	.	156	P35232	PHB_HUMAN	K	156	ENSP00000300408:E156K;ENSP00000393320:E156K;ENSP00000426433:E156K;ENSP00000422182:E156K;ENSP00000407828:E156K	ENSP00000300408:E156K	E	-	1	0	PHB	44841447	1.000000	0.71417	0.899000	0.35326	0.129000	0.20672	7.691000	0.84191	2.428000	0.82296	0.462000	0.41574	GAG	PHB	-	pfam_Band_7,smart_Band_7		0.582	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	HGNC	protein_coding	OTTHUMT00000258826.1	C	NM_002634		47486448	-1	no_errors	ENST00000300408	ensembl	human	known	70_37	missense	SNP	1.000	T
PHC2	1912	genome.wustl.edu	37	1	33789883	33789883	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:33789883C>G	ENST00000257118.5	-	0	3213				PHC2_ENST00000431992.1_3'UTR|PHC2_ENST00000373418.3_3'UTR|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373422.3_3'UTR|RP11-415J8.3_ENST00000588828.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)						multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTCACACAGTCATACACACAG	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.*583G>C	1.37:g.33789883C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	RNA	SNP	-	NULL	ENST00000257118.5	37	NULL	CCDS378.1	1																																																																																			PHC2	-	-		0.587	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	C	NM_198040		33789883	-1	no_errors	ENST00000485928	ensembl	human	known	70_37	rna	SNP	1.000	G
PHC2	1912	genome.wustl.edu	37	1	33789941	33789941	+	3'UTR	SNP	C	C	G	rs576456338		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:33789941C>G	ENST00000257118.5	-	0	3155				PHC2_ENST00000431992.1_3'UTR|PHC2_ENST00000373418.3_3'UTR|RP11-415J8.3_ENST00000587696.1_RNA|PHC2_ENST00000485928.1_5'UTR|RP11-415J8.3_ENST00000457957.2_RNA|PHC2_ENST00000373422.3_3'UTR|RP11-415J8.3_ENST00000588828.1_RNA	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)						multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCCCAGCTTCTCTCTCTCCA	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.*525G>C	1.37:g.33789941C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	RNA	SNP	-	NULL	ENST00000257118.5	37	NULL	CCDS378.1	1																																																																																			PHC2	-	-		0.602	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	HGNC	protein_coding	OTTHUMT00000011895.1	C	NM_198040		33789941	-1	no_errors	ENST00000485928	ensembl	human	known	70_37	rna	SNP	1.000	G
PHF12	57649	genome.wustl.edu	37	17	27239783	27239783	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:27239783C>T	ENST00000332830.4	-	9	2616	c.1806G>A	c.(1804-1806)gtG>gtA	p.V602V	PHF12_ENST00000577226.1_Silent_p.V602V|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.V602V	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TCTCTGTCTTCACAATGATGC	0.642																																																	0													45.0	52.0	50.0					17																	27239783		2203	4299	6502	SO:0001819	synonymous_variant	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1806G>A	17.37:g.27239783C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.V602	ENST00000332830.4	37	c.1806	CCDS32598.1	17																																																																																			PHF12	-	NULL		0.642	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27239783	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	silent	SNP	1.000	T
PHF12	57649	genome.wustl.edu	37	17	27244306	27244306	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:27244306C>T	ENST00000332830.4	-	7	1941	c.1131G>A	c.(1129-1131)ttG>ttA	p.L377L	PHF12_ENST00000577226.1_Silent_p.L377L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.L377L	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GACTCACCTTCAAGCTTCTTC	0.517																																																	0													101.0	87.0	92.0					17																	27244306		2203	4300	6503	SO:0001819	synonymous_variant	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.1131G>A	17.37:g.27244306C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.L377	ENST00000332830.4	37	c.1131	CCDS32598.1	17																																																																																			PHF12	-	NULL		0.517	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27244306	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	silent	SNP	1.000	T
JADE2	23338	genome.wustl.edu	37	5	133914845	133914845	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:133914845G>C	ENST00000282605.4	+	12	2429	c.2343G>C	c.(2341-2343)gaG>gaC	p.E781D	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000395003.1_Missense_Mutation_p.E737D|PHF15_ENST00000361895.2_Missense_Mutation_p.E738D																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGGCTGAGAGGCCCAAGG	0.622																																																	0													68.0	68.0	68.0					5																	133914845		2203	4300	6503	SO:0001583	missense	23338																														ENST00000282605.4:c.2343G>C	5.37:g.133914845G>C	ENSP00000282605:p.Glu781Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E797D	ENST00000282605.4	37	c.2391		5	.	.	.	.	.	.	.	.	.	.	G	7.950	0.744750	0.15710	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.52754	0.7;0.66;0.65	5.16	2.21	0.28008	.	0.220001	0.30519	N	0.009448	T	0.31389	0.0795	L	0.36672	1.1	0.26417	N	0.976166	B;B;B	0.19200	0.0;0.0;0.034	B;B;B	0.20767	0.0;0.0;0.031	T	0.13522	-1.0506	10	0.25751	T	0.34	.	5.1126	0.14817	0.2509:0.2795:0.4696:0.0	.	737;738;797	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	D	740;797;781;738;738;737	ENSP00000282605:E781D;ENSP00000354425:E738D;ENSP00000378451:E737D	ENSP00000282605:E781D	E	+	3	2	PHF15	133942744	0.801000	0.28930	0.999000	0.59377	0.867000	0.49689	-0.182000	0.09726	0.508000	0.28173	0.313000	0.20887	GAG	PHF15	-	NULL		0.622	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000251170.1	G			133914845	+1	no_errors	ENST00000448712	ensembl	human	known	70_37	missense	SNP	0.996	C
PHF20	51230	genome.wustl.edu	37	20	34526643	34526643	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:34526643G>A	ENST00000374012.3	+	16	2454	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	775					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTGATCTGCCGCTGTGGTGCC	0.532																																																	0													117.0	122.0	120.0					20																	34526643		2203	4300	6503	SO:0001819	synonymous_variant	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2325G>A	20.37:g.34526643G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Silent	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.P775	ENST00000374012.3	37	c.2325	CCDS13268.1	20																																																																																			PHF20	-	NULL		0.532	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	G	NM_016436		34526643	+1	no_errors	ENST00000374012	ensembl	human	known	70_37	silent	SNP	1.000	A
PHLDA2	7262	genome.wustl.edu	37	11	2950567	2950567	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:2950567C>G	ENST00000314222.4	-	1	118	c.28G>C	c.(28-30)Gag>Cag	p.E10Q		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	10	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACTCGCCCTCGCGTAGCACC	0.697																																																	0													13.0	15.0	14.0					11																	2950567		2195	4288	6483	SO:0001583	missense	7262			AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.28G>C	11.37:g.2950567C>G	ENSP00000319231:p.Glu10Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00496	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology	p.E10Q	ENST00000314222.4	37	c.28	CCDS7741.1	11	.	.	.	.	.	.	.	.	.	.	C	30	5.056827	0.93793	.	.	ENSG00000181649	ENST00000314222	T	0.56103	0.48	3.51	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.066775	0.56097	U	0.000021	T	0.71995	0.3406	M	0.77103	2.36	0.49130	D	0.999755	D	0.89917	1.0	D	0.76071	0.987	T	0.77975	-0.2385	10	0.72032	D	0.01	-19.6391	15.3955	0.74790	0.0:1.0:0.0:0.0	.	10	Q53GA4	PHLA2_HUMAN	Q	10	ENSP00000319231:E10Q	ENSP00000319231:E10Q	E	-	1	0	PHLDA2	2907143	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.689000	0.74562	1.660000	0.50760	0.313000	0.20887	GAG	PHLDA2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.697	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDA2	HGNC	protein_coding	OTTHUMT00000030116.1	C	NM_003311		2950567	-1	no_errors	ENST00000314222	ensembl	human	known	70_37	missense	SNP	1.000	G
PHTF2	57157	genome.wustl.edu	37	7	77484121	77484121	+	Silent	SNP	C	C	G	rs376520158		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:77484121C>G	ENST00000248550.7	+	2	193	c.117C>G	c.(115-117)ctC>ctG	p.L39L	PHTF2_ENST00000424760.1_Intron|PHTF2_ENST00000307305.8_Intron|PHTF2_ENST00000450574.1_Intron|PHTF2_ENST00000422959.2_Intron|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000416283.2_Intron|PHTF2_ENST00000415251.2_Intron			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						agtgttcactcaaggaccaag	0.557																																																	0													77.0	78.0	78.0					7																	77484121		1925	4138	6063	SO:0001819	synonymous_variant	57157			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.117C>G	7.37:g.77484121C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Silent	SNP	pfam_TF_homeodomain_male	p.L39	ENST00000248550.7	37	c.117		7																																																																																			PHTF2	-	NULL		0.557	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	C	NM_020432		77484121	+1	no_errors	ENST00000248550	ensembl	human	known	70_37	silent	SNP	0.005	G
PIGO	84720	genome.wustl.edu	37	9	35091215	35091215	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:35091215G>A	ENST00000378617.3	-	7	3042				PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCTTTAAGTGAATCAGAGCT	0.502																																																	0													70.0	74.0	72.0					9																	35091215		2202	4300	6502	SO:0001627	intron_variant	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2647+21C>T	9.37:g.35091215G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	RNA	SNP	-	NULL	ENST00000378617.3	37	NULL	CCDS6575.1	9																																																																																			PIGO	-	-		0.502	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1	G	NM_032634		35091215	-1	no_errors	ENST00000474436	ensembl	human	known	70_37	rna	SNP	0.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178916836	178916836	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:178916836C>G	ENST00000263967.3	+	2	380	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	75	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q75E(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGTGTTACTCAAGAAGCAGA	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	central_nervous_system(1)											101.0	96.0	97.0					3																	178916836		1816	4084	5900	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.223C>G	3.37:g.178916836C>G	ENSP00000263967:p.Gln75Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q75E	ENST00000263967.3	37	c.223	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182300	0.78677	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.72942	-0.7;-0.7	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.62723	1.935	0.80722	D	1	P	0.49447	0.924	P	0.49252	0.604	T	0.75673	-0.3236	9	.	.	.	-0.0534	19.2635	0.93977	0.0:1.0:0.0:0.0	.	75	P42336	PK3CA_HUMAN	E	75	ENSP00000263967:Q75E;ENSP00000417479:Q75E	.	Q	+	1	0	PIK3CA	180399530	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.436000	0.80404	2.547000	0.85894	0.555000	0.69702	CAA	PIK3CA	-	pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	C			178916836	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G
PIM1	5292	genome.wustl.edu	37	6	37141960	37141960	+	3'UTR	SNP	C	C	T	rs528554956		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:37141960C>T	ENST00000373509.5	+	0	1408				PIM1_ENST00000468243.1_3'UTR	NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TGACACGTCTCGCCAAGCAGG	0.562			T	BCL6	NHL								C|||	1	0.000199681	0.0	0.0	5008	,	,		16707	0.001		0.0	False		,,,				2504	0.0							Dom	yes		6	6p21.2	5292	pim-1 oncogene		L	0																																										SO:0001624	3_prime_UTR_variant	5292				CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.*93C>T	6.37:g.37141960C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q38RT9|Q5T7H7|Q96RG3	RNA	SNP	-	NULL	ENST00000373509.5	37	NULL	CCDS4830.1	6																																																																																			PIM1	-	-		0.562	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM1	HGNC	protein_coding	OTTHUMT00000043903.1	C			37141960	+1	no_errors	ENST00000468243	ensembl	human	known	70_37	rna	SNP	0.000	T
LRRC7	57554	genome.wustl.edu	37	1	70385032	70385032	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:70385032G>A	ENST00000035383.5	+	6	563				LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Intron|PIN1P1_ENST00000412108.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						agAGCGTGAGGAGGAAAGATG	0.468																																																	0																																										SO:0001627	intron_variant	5301				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.534-12158G>A	1.37:g.70385032G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	RNA	SNP	-	NULL	ENST00000035383.5	37	NULL	CCDS645.1	1																																																																																			PIN1P1	-	-		0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1P1	HGNC	protein_coding	OTTHUMT00000131261.1	G	NM_020794		70385032	+1	no_errors	ENST00000412108	ensembl	human	known	70_37	rna	SNP	0.057	A
PITPNB	23760	genome.wustl.edu	37	22	28307052	28307052	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:28307052C>G	ENST00000335272.5	-	3	173	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PITPNB_ENST00000455418.3_Missense_Mutation_p.E35Q|PITPNB_ENST00000320996.10_Missense_Mutation_p.E33Q	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	33					glycerophospholipid biosynthetic process (GO:0046474)|in utero embryonic development (GO:0001701)|lipid metabolic process (GO:0006629)|phospholipid metabolic process (GO:0006644)|phospholipid transport (GO:0015914)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	lipid binding (GO:0008289)			large_intestine(4)|lung(3)|skin(1)	8						CCACCAGTCTCATTCTTACTA	0.378																																																	0													171.0	145.0	154.0					22																	28307052		2203	4300	6503	SO:0001583	missense	23760			D30037	CCDS13842.1, CCDS63433.1	22q12.1	2006-12-15			ENSG00000180957	ENSG00000180957			9002	protein-coding gene	gene with protein product		606876				10591208	Standard	NM_012399		Approved	VIB1B	uc003adk.3	P48739	OTTHUMG00000150976	ENST00000335272.5:c.97G>C	22.37:g.28307052C>G	ENSP00000334738:p.Glu33Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYB8|B7Z7Q0|Q8N5W1	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.E35Q	ENST00000335272.5	37	c.103	CCDS13842.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.418005	0.96092	.	.	ENSG00000180957	ENST00000335272;ENST00000320996;ENST00000455418;ENST00000436663	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.04	6.04	0.98038	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	L	0.58428	1.81	0.80722	D	1	D;P;D	0.76494	0.999;0.941;0.991	D;P;P	0.73708	0.981;0.731;0.837	T	0.71080	-0.4696	10	0.87932	D	0	-44.0594	19.583	0.95478	0.0:1.0:0.0:0.0	.	35;33;33	B7Z7Q0;P48739-2;P48739	.;.;PIPNB_HUMAN	Q	33;33;35;35	ENSP00000334738:E33Q;ENSP00000321266:E33Q;ENSP00000405179:E35Q;ENSP00000403675:E35Q	ENSP00000321266:E33Q	E	-	1	0	PITPNB	26637052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.041000	0.70988	2.873000	0.98535	0.563000	0.77884	GAG	PITPNB	-	pfam_PI_transfer,prints_PI_transfer		0.378	PITPNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITPNB	HGNC	protein_coding	OTTHUMT00000320740.1	C			28307052	-1	no_errors	ENST00000455418	ensembl	human	known	70_37	missense	SNP	1.000	G
PITPNC1	26207	genome.wustl.edu	37	17	65671646	65671646	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:65671646G>A	ENST00000581322.1	+	8	670	c.670G>A	c.(670-672)Gat>Aat	p.D224N	PITPNC1_ENST00000299954.9_Missense_Mutation_p.D224N|PITPNC1_ENST00000335257.6_Missense_Mutation_p.D224N|PITPNC1_ENST00000580974.1_Missense_Mutation_p.D224N			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	224					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TGCATGGGTTGATGAGTGGTA	0.398																																																	0													199.0	186.0	190.0					17																	65671646		1914	4121	6035	SO:0001583	missense	26207			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.670G>A	17.37:g.65671646G>A	ENSP00000464006:p.Asp224Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.D224N	ENST00000581322.1	37	c.670	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674851	0.67928	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.61627	0.09;0.09	5.77	5.77	0.91146	START-like domain (1);	0.041588	0.85682	D	0.000000	D	0.84370	0.5457	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88329	0.2967	10	0.87932	D	0	-3.6583	19.9933	0.97376	0.0:0.0:1.0:0.0	.	224;224	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	N	224	ENSP00000335618:D224N;ENSP00000299954:D224N	ENSP00000299954:D224N	D	+	1	0	PITPNC1	63102108	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.710000	0.98732	2.744000	0.94065	0.542000	0.68232	GAT	PITPNC1	-	pfam_PI_transfer,prints_PI_transfer		0.398	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1	G	NM_012417		65671646	+1	no_errors	ENST00000335257	ensembl	human	known	70_37	missense	SNP	1.000	A
PITPNM1	9600	genome.wustl.edu	37	11	67267839	67267839	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67267839C>G	ENST00000534749.1	-	5	882	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	PITPNM1_ENST00000436757.2_Missense_Mutation_p.E232Q|PITPNM1_ENST00000356404.3_Missense_Mutation_p.E232Q			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	232					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TCTGTCCACTCATCCTGCCAG	0.667																																					GBM(28;144 709 4607 5525)												0													78.0	81.0	80.0					11																	67267839		2200	4290	6490	SO:0001583	missense	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.694G>C	11.37:g.67267839C>G	ENSP00000437286:p.Glu232Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.E232Q	ENST00000534749.1	37	c.694	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404412	0.83230	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.53857	0.6;0.6;0.6	4.02	4.02	0.46733	START-like domain (1);	0.000000	0.53938	D	0.000048	T	0.73118	0.3546	M	0.81239	2.535	0.46542	D	0.999099	D;D	0.89917	0.996;1.0	D;D	0.97110	0.985;1.0	T	0.78518	-0.2173	10	0.87932	D	0	-25.5198	15.2857	0.73826	0.0:1.0:0.0:0.0	.	232;232	O00562-2;O00562	.;PITM1_HUMAN	Q	232	ENSP00000437286:E232Q;ENSP00000398787:E232Q;ENSP00000348772:E232Q	ENSP00000348772:E232Q	E	-	1	0	PITPNM1	67024415	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.170000	0.77587	2.256000	0.74724	0.555000	0.69702	GAG	PITPNM1	-	pfam_PI_transfer,prints_PI_transfer		0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	C	NM_004910		67267839	-1	no_errors	ENST00000356404	ensembl	human	known	70_37	missense	SNP	1.000	G
PKD1	5310	genome.wustl.edu	37	16	2158721	2158721	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2158721C>T	ENST00000262304.4	-	15	6655	c.6447G>A	c.(6445-6447)ccG>ccA	p.P2149P	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.P2149P	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2149	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACCTCCGGCTCCCGGC	0.672																																																	0													18.0	13.0	15.0					16																	2158721		2128	4231	6359	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6447G>A	16.37:g.2158721C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.P2149	ENST00000262304.4	37	c.6447	CCDS32369.1	16																																																																																			PKD1	-	superfamily_PKD_dom,pfscan_REJ-like,tigrfam_Polycystin_cat		0.672	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2158721	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.000	T
PKD1P5	348156	genome.wustl.edu	37	16	18478352	18478352	+	RNA	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:18478352G>T	ENST00000542593.1	-	0	617									polycystic kidney disease 1 (autosomal dominant) pseudogene 5																		CGGTGAGGCTGAAGGTGTACT	0.697																																																	0																																												348156					16p12.3	2014-03-20			ENSG00000254681	ENSG00000254681			30069	pseudogene	pseudogene						8004675, 10493829	Standard	NG_002798		Approved				OTTHUMG00000166287		16.37:g.18478352G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000542593.1	37	NULL		16																																																																																			PKD1P5	-	-		0.697	PKD1P5-003	KNOWN	basic	processed_transcript	PKD1P5	HGNC	pseudogene	OTTHUMT00000400307.1	G	NG_002798		18478352	-1	no_errors	ENST00000538166	ensembl	human	known	70_37	rna	SNP	1.000	T
PKD1P5	348156	genome.wustl.edu	37	16	18484682	18484682	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:18484682G>A	ENST00000542593.1	-	0	94									polycystic kidney disease 1 (autosomal dominant) pseudogene 5																		GCCGTCACCCGCAGGCTGAGG	0.677																																																	0																																												348156					16p12.3	2014-03-20			ENSG00000254681	ENSG00000254681			30069	pseudogene	pseudogene						8004675, 10493829	Standard	NG_002798		Approved				OTTHUMG00000166287		16.37:g.18484682G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000542593.1	37	NULL		16																																																																																			PKD1P5	-	-		0.677	PKD1P5-003	KNOWN	basic	processed_transcript	PKD1P5	HGNC	pseudogene	OTTHUMT00000400307.1	G	NG_002798		18484682	-1	no_errors	ENST00000542593	ensembl	human	known	70_37	rna	SNP	0.025	A
PKD1L2	114780	genome.wustl.edu	37	16	81248664	81248664	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:81248664G>A	ENST00000525539.1	-	0	598				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.S200L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTCCAGATCTGAAGGACGCCC	0.652											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											17.0	22.0	21.0					16																	81248664		2009	4167	6176			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81248664G>A		Somatic	1204	WXS	Illumina HiSeq	Phase_IV	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.S200L	ENST00000525539.1	37	c.599		16	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900649	0.17686	.	.	ENSG00000166473	ENST00000337114	T	0.18502	2.21	4.67	4.67	0.58626	D-galactoside/L-rhamnose binding SUEL lectin domain (2);	1.910350	0.03083	N	0.158819	T	0.14527	0.0351	.	.	.	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.12156	0.006;0.007	T	0.11036	-1.0604	9	0.45353	T	0.12	-0.1246	6.4261	0.21770	0.1299:0.0:0.7016:0.1685	.	200;200	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	L	200	ENSP00000337397:S200L	ENSP00000337397:S200L	S	-	2	0	PKD1L2	79806165	0.006000	0.16342	0.706000	0.30403	0.021000	0.10359	1.571000	0.36450	2.132000	0.65825	0.650000	0.86243	TCA	DKFZP686J19100	-	pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom		0.652	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	Uniprot_genename	polymorphic_pseudogene	OTTHUMT00000387972.2	G			81248664	-1	no_errors	ENST00000337114	ensembl	human	known	70_37	missense	SNP	0.020	A
PKDREJ	10343	genome.wustl.edu	37	22	46656322	46656322	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:46656322G>C	ENST00000253255.5	-	1	2897	c.2898C>G	c.(2896-2898)ctC>ctG	p.L966L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	966					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.L966L(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCCCACTGTGAGATTAAAAG	0.493																																																	1	Substitution - coding silent(1)	cervix(1)											138.0	141.0	140.0					22																	46656322		2203	4300	6503	SO:0001819	synonymous_variant	10343			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2898C>G	22.37:g.46656322G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like	p.L966	ENST00000253255.5	37	c.2898	CCDS14073.1	22																																																																																			PKDREJ	-	NULL		0.493	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	G	NM_006071		46656322	-1	no_errors	ENST00000253255	ensembl	human	known	70_37	silent	SNP	0.859	C
PKP3	11187	genome.wustl.edu	37	11	400063	400063	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:400063C>T	ENST00000331563.2	+	6	1446	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	457					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCCCTGTCGGGGGCTGGG	0.662																																																	0													17.0	19.0	18.0					11																	400063		2166	4276	6442	SO:0001583	missense	11187			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1370C>T	11.37:g.400063C>T	ENSP00000331678:p.Ser457Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S457L	ENST00000331563.2	37	c.1370	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	c	19.52	3.842304	0.71488	.	.	ENSG00000184363	ENST00000331563	T	0.78246	-1.16	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.078495	0.53938	D	0.000058	D	0.88130	0.6354	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	D	0.90387	0.4392	10	0.66056	D	0.02	-7.8417	16.9419	0.86220	0.0:1.0:0.0:0.0	.	457	Q9Y446	PKP3_HUMAN	L	457	ENSP00000331678:S457L	ENSP00000331678:S457L	S	+	2	0	PKP3	390063	0.987000	0.35691	0.936000	0.37596	0.212000	0.24457	3.560000	0.53763	2.061000	0.61500	0.543000	0.68304	TCG	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo		0.662	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	C	NM_007183		400063	+1	no_errors	ENST00000331563	ensembl	human	known	70_37	missense	SNP	0.999	T
PLA2G12B	84647	genome.wustl.edu	37	10	74714349	74714349	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:74714349G>C	ENST00000373032.3	-	1	187	c.95C>G	c.(94-96)tCa>tGa	p.S32*		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	32					cholesterol homeostasis (GO:0042632)|lipid catabolic process (GO:0016042)|triglyceride homeostasis (GO:0070328)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GCCCCAGTCTGAATAGGACTC	0.572																																																	0													92.0	100.0	97.0					10																	74714349		2203	4300	6503	SO:0001587	stop_gained	84647			AF349540	CCDS7319.1	10q22.1	2008-09-19	2004-01-13	2004-01-14	ENSG00000138308	ENSG00000138308	3.1.1.4		18555	protein-coding gene	gene with protein product		611653	"""phospholipase A2, group XIII"""	PLA2G13			Standard	NM_032562		Approved		uc001jtf.1	Q9BX93	OTTHUMG00000018446	ENST00000373032.3:c.95C>G	10.37:g.74714349G>C	ENSP00000362123:p.Ser32*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL23|Q52LB2|Q96Q99	Nonsense_Mutation	SNP	pfam_PLipase_A2_secretory_G12,superfamily_PLipase_A2	p.S32*	ENST00000373032.3	37	c.95	CCDS7319.1	10	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594358	0.66219	.	.	ENSG00000138308	ENST00000373032	.	.	.	5.65	4.74	0.60224	.	0.710315	0.14133	N	0.339229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-2.6843	16.3502	0.83202	0.0:0.1323:0.8677:0.0	.	.	.	.	X	32	.	ENSP00000362123:S32X	S	-	2	0	PLA2G12B	74384355	0.987000	0.35691	0.233000	0.24025	0.261000	0.26267	7.632000	0.83247	1.383000	0.46405	-0.165000	0.13383	TCA	PLA2G12B	-	pfam_PLipase_A2_secretory_G12		0.572	PLA2G12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G12B	HGNC	protein_coding	OTTHUMT00000048598.1	G	NM_032562		74714349	-1	no_errors	ENST00000373032	ensembl	human	known	70_37	nonsense	SNP	0.056	C
PLD5	200150	genome.wustl.edu	37	1	242687403	242687403	+	Missense_Mutation	SNP	T	T	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:242687403T>G	ENST00000536534.2	-	1	417	c.176A>C	c.(175-177)gAc>gCc	p.D59A	PLD5_ENST00000442594.2_5'UTR			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	59						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CTCCAGCTTGTCTTTCCTCCG	0.692																																																	0																																										SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.176A>C	1.37:g.242687403T>G	ENSP00000440896:p.Asp59Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.D59A	ENST00000536534.2	37	c.176	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.782436	0.49891	.	.	ENSG00000180287	ENST00000536534	T	0.52057	0.68	3.7	3.7	0.42460	.	.	.	.	.	T	0.47838	0.1467	N	0.14661	0.345	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.51348	-0.8717	9	0.62326	D	0.03	.	9.8497	0.41048	0.0:0.0:0.0:1.0	.	59	Q8N7P1	PLD5_HUMAN	A	59	ENSP00000440896:D59A	ENSP00000355503:D59A	D	-	2	0	PLD5	240754026	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.130000	0.64745	1.538000	0.49270	0.379000	0.24179	GAC	PLD5	-	NULL		0.692	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	T	NM_152666		242687403	-1	no_errors	ENST00000536534	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	144992701	144992701	+	Missense_Mutation	SNP	G	G	A	rs377598440		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144992701G>A	ENST00000322810.4	-	32	11868	c.11699C>T	c.(11698-11700)tCg>tTg	p.S3900L	PLEC_ENST00000356346.3_Missense_Mutation_p.S3749L|PLEC_ENST00000436759.2_Missense_Mutation_p.S3790L|PLEC_ENST00000527096.1_Missense_Mutation_p.S3786L|PLEC_ENST00000398774.2_Missense_Mutation_p.S3731L|PLEC_ENST00000354958.2_Missense_Mutation_p.S3741L|PLEC_ENST00000345136.3_Missense_Mutation_p.S3763L|PLEC_ENST00000357649.2_Missense_Mutation_p.S3767L|PLEC_ENST00000354589.3_Missense_Mutation_p.S3763L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3900	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGCTCAGCCGAGAGCAGGCG	0.667																																																	0								G	LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,3900		0,0,1950	8.0	11.0	10.0		11369,11246,11222,11699,11192,11288,11300,11288	3.3	0.5	8		10	2,8114		0,2,4056	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	145,145,145,145,145,145,145,145	0,2,6006	AA,AG,GG		0.0246,0.0,0.0166	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	3790/4575,3749/4534,3741/4526,3900/4685,3731/4516,3763/4548,3767/4552,3763/4548	144992701	2,12014	1950	4058	6008	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11699C>T	8.37:g.144992701G>A	ENSP00000323856:p.Ser3900Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.S3900L	ENST00000322810.4	37	c.11699	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	6.910	0.537489	0.13188	0.0	2.46E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	4.22	3.31	0.37934	.	0.000000	0.56097	U	0.000034	T	0.67211	0.2869	M	0.66439	2.03	0.51233	D	0.999911	P;P;P;P;P;P;P;P	0.39071	0.606;0.606;0.606;0.658;0.606;0.606;0.606;0.606	B;B;B;B;B;B;B;B	0.31245	0.077;0.077;0.077;0.126;0.077;0.077;0.077;0.077	T	0.73056	-0.4103	10	0.54805	T	0.06	.	11.4828	0.50335	0.0942:0.0:0.9058:0.0	.	3790;3749;3741;3900;3731;3763;3767;3763	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	3763;3767;3763;3731;3900;3741;3749;3790;3786	ENSP00000344848:S3763L;ENSP00000350277:S3767L;ENSP00000346602:S3763L;ENSP00000381756:S3731L;ENSP00000323856:S3900L;ENSP00000347044:S3741L;ENSP00000348702:S3749L;ENSP00000388180:S3790L;ENSP00000434583:S3786L	ENSP00000323856:S3900L	S	-	2	0	PLEC	145064689	1.000000	0.71417	0.470000	0.27216	0.007000	0.05969	5.507000	0.66999	2.174000	0.68829	0.453000	0.30009	TCG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		144992701	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.878	A
PLEKHA5	54477	genome.wustl.edu	37	12	19459396	19459396	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:19459396C>G	ENST00000299275.6	+	13	1851				PLEKHA5_ENST00000355397.3_Intron|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000538714.1_Intron|PLEKHA5_ENST00000543806.1_Intron|PLEKHA5_ENST00000424268.1_Intron|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.L637V|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000429027.2_Intron|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000317589.4_Intron|RN7SL67P_ENST00000492147.2_RNA	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5						reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGATACCCACCTCCCACGAAC	0.617																																					Pancreas(196;329 2193 11246 14234 19524)												0																																										SO:0001627	intron_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.1846-14100C>G	12.37:g.19459396C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP	p.L637V	ENST00000299275.6	37	c.1909	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	7.544	0.661322	0.14645	.	.	ENSG00000052126	ENST00000309364	T	0.11277	2.79	0.555	0.555	0.17247	.	.	.	.	.	T	0.09512	0.0234	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37753	-0.9692	5	0.31617	T	0.26	.	.	.	.	.	.	.	.	V	637	ENSP00000311239:L637V	ENSP00000311239:L637V	L	+	1	0	PLEKHA5	19350663	0.018000	0.18449	0.095000	0.20976	0.042000	0.13812	0.655000	0.24933	0.564000	0.29238	0.313000	0.20887	CTC	PLEKHA5	-	NULL		0.617	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	C	NM_019012		19459396	+1	no_errors	ENST00000309364	ensembl	human	known	70_37	missense	SNP	0.092	G
PLEKHG3	26030	genome.wustl.edu	37	14	65194406	65194406	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:65194406G>C	ENST00000394691.1	+	2	204	c.57G>C	c.(55-57)ctG>ctC	p.L19L	PLEKHG3_ENST00000247226.7_Silent_p.L19L			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	19	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGTGAGCCTGACCTCTACCA	0.672																																																	0													15.0	15.0	15.0					14																	65194406		2189	4259	6448	SO:0001819	synonymous_variant	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.57G>C	14.37:g.65194406G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L19	ENST00000394691.1	37	c.57		14																																																																																			PLEKHG3	-	NULL		0.672	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	G	NM_015549		65194406	+1	no_errors	ENST00000394691	ensembl	human	known	70_37	silent	SNP	0.338	C
PLEKHG4B	153478	genome.wustl.edu	37	5	182327	182327	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:182327C>G	ENST00000283426.6	+	18	3755	c.3705C>G	c.(3703-3705)atC>atG	p.I1235M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1235							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CATCTGATATCAGAGCCTGCG	0.652																																																	0													39.0	42.0	41.0					5																	182327		2203	4300	6503	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3705C>G	5.37:g.182327C>G	ENSP00000283426:p.Ile1235Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.I1235M	ENST00000283426.6	37	c.3705	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	5.022	0.189832	0.09547	.	.	ENSG00000153404	ENST00000283426	T	0.34472	1.36	3.55	-0.34	0.12643	.	.	.	.	.	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.26744	0.158	B	0.17098	0.017	T	0.17930	-1.0353	9	0.36615	T	0.2	.	4.2372	0.10632	0.0:0.2913:0.5169:0.1918	.	1235	Q96PX9	PKH4B_HUMAN	M	1235	ENSP00000283426:I1235M	ENSP00000283426:I1235M	I	+	3	3	PLEKHG4B	235327	0.000000	0.05858	0.000000	0.03702	0.754000	0.42855	-0.591000	0.05753	0.020000	0.15106	0.467000	0.42956	ATC	PLEKHG4B	-	NULL		0.652	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	C	NM_052909		182327	+1	no_errors	ENST00000283426	ensembl	human	known	70_37	missense	SNP	0.004	G
PLEKHM1	9842	genome.wustl.edu	37	17	43552613	43552613	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:43552613G>A	ENST00000430334.3	-	4	909	c.776C>T	c.(775-777)tCa>tTa	p.S259L	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.S170L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	259					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CAGCTGGGATGAACTGGCCGT	0.547																																																	0													46.0	44.0	45.0					17																	43552613		2203	4300	6503	SO:0001583	missense	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.776C>T	17.37:g.43552613G>A	ENSP00000389913:p.Ser259Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S259L	ENST00000430334.3	37	c.776	CCDS32671.1	17	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790848	0.50102	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.74842	-0.84;-0.88	5.03	5.03	0.67393	.	0.071477	0.64402	D	0.000020	D	0.85487	0.5708	M	0.70275	2.135	0.58432	D	0.99999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.976;0.997	D	0.86654	0.1900	10	0.66056	D	0.02	.	17.1001	0.86647	0.0:0.0:1.0:0.0	.	170;259	F8W648;Q9Y4G2	.;PKHM1_HUMAN	L	259;208;170	ENSP00000389913:S259L;ENSP00000414352:S170L	ENSP00000414352:S170L	S	-	2	0	PLEKHM1	40908396	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.906000	0.63293	2.608000	0.88229	0.655000	0.94253	TCA	PLEKHM1	-	NULL		0.547	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	G	NM_014798		43552613	-1	no_errors	ENST00000430334	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEKHM2	23207	genome.wustl.edu	37	1	16060403	16060403	+	Nonsense_Mutation	SNP	C	C	T	rs373431155		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:16060403C>T	ENST00000375799.3	+	20	3261	c.3034C>T	c.(3034-3036)Cga>Tga	p.R1012*	PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.R992*|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_3'UTR|SLC25A34_ENST00000294454.5_5'Flank	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	1012					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCGCGGCCGAGCCTCCCG	0.652																																																	0								C	stop/ARG	0,4138		0,0,2069	25.0	31.0	29.0		3034	-1.9	1.0	1		29	1,8409		0,1,4204	no	stop-gained	PLEKHM2	NM_015164.2		0,1,6273	TT,TC,CC		0.0119,0.0,0.0080		1012/1020	16060403	1,12547	2069	4205	6274	SO:0001587	stop_gained	23207			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.3034C>T	1.37:g.16060403C>T	ENSP00000364956:p.Arg1012*	Somatic		WXS	Illumina HiSeq	Phase_IV	O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Nonsense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.R1012*	ENST00000375799.3	37	c.3034	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	C	41	8.740894	0.98935	0.0	1.19E-4	ENSG00000116786	ENST00000375799;ENST00000375793	.	.	.	5.39	-1.88	0.07713	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2635	19.9148	0.97053	0.1754:0.8246:0.0:0.0	.	.	.	.	X	1012;992	.	ENSP00000364950:R992X	R	+	1	2	PLEKHM2	15932990	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.397000	0.34543	-0.254000	0.09500	-0.397000	0.06425	CGA	PLEKHM2	-	NULL		0.652	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	C	NM_015164		16060403	+1	no_errors	ENST00000375799	ensembl	human	known	70_37	nonsense	SNP	0.997	T
PLK4	10733	genome.wustl.edu	37	4	128806882	128806882	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:128806882G>C	ENST00000270861.5	+	5	631	c.357G>C	c.(355-357)caG>caC	p.Q119H	PLK4_ENST00000507249.1_Missense_Mutation_p.Q119H|PLK4_ENST00000513090.1_Missense_Mutation_p.Q87H|PLK4_ENST00000515069.1_Missense_Mutation_p.Q119H|PLK4_ENST00000514379.1_Missense_Mutation_p.Q78H	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TCATGCACCAGATCATCACAG	0.358																																					Colon(135;508 1718 19061 31832 42879)												0													179.0	168.0	171.0					4																	128806882		2203	4300	6503	SO:0001583	missense	10733			Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.357G>C	4.37:g.128806882G>C	ENSP00000270861:p.Gln119His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.Q119H	ENST00000270861.5	37	c.357	CCDS3735.1	4	.	.	.	.	.	.	.	.	.	.	G	15.41	2.826831	0.50739	.	.	ENSG00000142731	ENST00000270861;ENST00000515069;ENST00000513090;ENST00000507249;ENST00000514379	T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35	5.92	4.22	0.49857	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	M	0.80028	2.48	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	T	0.61676	-0.7014	10	0.87932	D	0	-3.8304	9.7272	0.40339	0.2688:0.0:0.7312:0.0	.	87;119	O00444-2;O00444	.;PLK4_HUMAN	H	119;119;87;119;78	ENSP00000270861:Q119H;ENSP00000421774:Q119H;ENSP00000427554:Q87H;ENSP00000423412:Q119H;ENSP00000423582:Q78H	ENSP00000270861:Q119H	Q	+	3	2	PLK4	129026332	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.101000	0.41787	0.848000	0.35191	-0.145000	0.13849	CAG	PLK4	-	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		0.358	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK4	HGNC	protein_coding	OTTHUMT00000257095.3	G			128806882	+1	no_errors	ENST00000270861	ensembl	human	known	70_37	missense	SNP	1.000	C
PLXNA2	5362	genome.wustl.edu	37	1	208218010	208218010	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:208218010G>A	ENST00000367033.3	-	20	4474	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1239					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CGATGCTGACGATGGCTGGCA	0.572																																																	0													71.0	66.0	68.0					1																	208218010		2203	4300	6503	SO:0001819	synonymous_variant	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3717C>T	1.37:g.208218010G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.I1239	ENST00000367033.3	37	c.3717	CCDS31013.1	1																																																																																			PLXNA2	-	NULL		0.572	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	G	NM_025179		208218010	-1	no_errors	ENST00000367033	ensembl	human	known	70_37	silent	SNP	0.996	A
PLXNB1	5364	genome.wustl.edu	37	3	48465445	48465445	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48465445G>A	ENST00000358536.4	-	3	845	c.576C>T	c.(574-576)ccC>ccT	p.P192P	PLXNB1_ENST00000296440.6_Silent_p.P192P|PLXNB1_ENST00000358459.4_Silent_p.P192P|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Silent_p.P192P	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	192	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTGGGGGTCGGGCGGCCACA	0.662																																																	0													11.0	13.0	13.0					3																	48465445		2200	4296	6496	SO:0001819	synonymous_variant	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.576C>T	3.37:g.48465445G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.P192	ENST00000358536.4	37	c.576	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.662	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	G	NM_002673		48465445	-1	no_errors	ENST00000296440	ensembl	human	known	70_37	silent	SNP	0.018	A
PLXNC1	10154	genome.wustl.edu	37	12	94543591	94543591	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:94543591G>C	ENST00000258526.4	+	1	1093	c.844G>C	c.(844-846)Gac>Cac	p.D282H		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	282	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCATCCCTCGACTGCGGCCA	0.721																																																	0													15.0	17.0	16.0					12																	94543591		2131	4240	6371	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.844G>C	12.37:g.94543591G>C	ENSP00000258526:p.Asp282His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59H25	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D282H	ENST00000258526.4	37	c.844	CCDS9049.1	12	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647634	0.47258	.	.	ENSG00000136040	ENST00000258526	T	0.04706	3.57	4.98	3.01	0.34805	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.406089	0.25935	N	0.027347	T	0.06188	0.0160	L	0.40543	1.245	0.80722	D	1	P	0.36086	0.536	B	0.40982	0.345	T	0.37267	-0.9713	10	0.52906	T	0.07	.	9.7073	0.40222	0.0757:0.2466:0.6777:0.0	.	282	O60486	PLXC1_HUMAN	H	282	ENSP00000258526:D282H	ENSP00000258526:D282H	D	+	1	0	PLXNC1	93067722	0.996000	0.38824	0.996000	0.52242	0.911000	0.54048	1.230000	0.32612	1.229000	0.43630	0.561000	0.74099	GAC	PLXNC1	-	superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.721	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	G			94543591	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	missense	SNP	0.999	C
PNKD	25953	genome.wustl.edu	37	2	219209676	219209676	+	Missense_Mutation	SNP	G	G	A	rs148141539		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:219209676G>A	ENST00000273077.4	+	10	1181	c.1130G>A	c.(1129-1131)cGg>cAg	p.R377Q	PNKD_ENST00000436005.2_Missense_Mutation_p.R317Q|AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000258362.3_Missense_Mutation_p.R353Q	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	377	Substrate binding. {ECO:0000250}.			R -> L (in Ref. 7; CAB70870). {ECO:0000305}.	glutathione biosynthetic process (GO:0006750)|neuromuscular process controlling posture (GO:0050884)|regulation of dopamine metabolic process (GO:0042053)|regulation of synaptic transmission, dopaminergic (GO:0032225)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCTCCGCCGGCTGAAGGAT	0.677																																																	0								G	GLN/ARG,GLN/ARG	1,4401		0,1,2200	26.0	33.0	31.0		1130,1058	2.8	1.0	2	dbSNP_134	31	0,8596		0,0,4298	no	missense,missense	PNKD	NM_015488.4,NM_022572.4	43,43	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	377/386,353/362	219209676	1,12997	2201	4298	6499	SO:0001583	missense	25953				CCDS2411.1, CCDS2413.1, CCDS42816.1	2q35	2011-01-21	2007-07-12		ENSG00000127838	ENSG00000127838			9153	protein-coding gene	gene with protein product	"""myofibrillogenesis regulator 1"""	609023	"""paroxysmal nonkinesiogenic dyskinesia"""			8659518	Standard	NM_015488		Approved	DYT8, PDC, DKFZp564N1362, FPD1, MR-1, BRP17, FKSG19, TAHCCP2, KIAA1184, KIPP1184, MGC31943, PKND1	uc002vhn.3	Q8N490	OTTHUMG00000133110	ENST00000273077.4:c.1130G>A	2.37:g.219209676G>A	ENSP00000273077:p.Arg377Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1F2|Q96A48|Q9BU26|Q9NSX4|Q9ULN6|Q9Y4T1	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase	p.R377Q	ENST00000273077.4	37	c.1130	CCDS2411.1	2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393169	0.42410	2.27E-4	0.0	ENSG00000127838	ENST00000273077;ENST00000258362;ENST00000436005	D;D;D	0.96587	-4.06;-3.76;-3.75	4.68	2.83	0.33086	.	0.251890	0.37178	N	0.002216	D	0.89399	0.6704	N	0.20845	0.615	0.19575	N	0.999963	B;B	0.20261	0.043;0.0	B;B	0.10450	0.005;0.0	T	0.79019	-0.1974	10	0.35671	T	0.21	-8.5362	3.4977	0.07661	0.2963:0.0:0.5292:0.1745	.	353;377	Q8N490-3;Q8N490	.;PNKD_HUMAN	Q	377;353;317	ENSP00000273077:R377Q;ENSP00000258362:R353Q;ENSP00000414400:R317Q	ENSP00000258362:R353Q	R	+	2	0	PNKD	218917920	0.052000	0.20516	0.992000	0.48379	0.945000	0.59286	1.104000	0.31074	0.363000	0.24346	0.313000	0.20887	CGG	PNKD	-	tigrfam_Hydroxyacylglutathione_Hdrlase		0.677	PNKD-001	KNOWN	basic|CCDS	protein_coding	PNKD	HGNC	protein_coding	OTTHUMT00000256775.2	G			219209676	+1	no_errors	ENST00000273077	ensembl	human	known	70_37	missense	SNP	0.198	A
PNMA1	9240	genome.wustl.edu	37	14	74179653	74179653	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:74179653C>T	ENST00000316836.3	-	1	1475	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	230					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		caagcgccttcaggcattcgg	0.517																																																	0													69.0	78.0	75.0					14																	74179653		2203	4300	6503	SO:0001819	synonymous_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.690G>A	14.37:g.74179653C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4L5|O95144|Q8NG07	Silent	SNP	superfamily_Globin-like	p.L230	ENST00000316836.3	37	c.690	CCDS9818.1	14																																																																																			PNMA1	-	NULL		0.517	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	HGNC	protein_coding	OTTHUMT00000402774.1	C	NM_006029		74179653	-1	no_errors	ENST00000316836	ensembl	human	known	70_37	silent	SNP	1.000	T
PNPLA6	10908	genome.wustl.edu	37	19	7614939	7614939	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7614939C>T	ENST00000221249.6	+	17	2069	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Silent_p.F585F|PNPLA6_ENST00000450331.3_Silent_p.F546F|PNPLA6_ENST00000414982.3_Silent_p.F594F|PNPLA6_ENST00000545201.2_Silent_p.F520F	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	585					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCTCATCTTCACACTGCGAG	0.617																																																	0													120.0	108.0	112.0					19																	7614939		2203	4300	6503	SO:0001819	synonymous_variant	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1638C>T	19.37:g.7614939C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F594	ENST00000221249.6	37	c.1782	CCDS32891.1	19																																																																																			PNPLA6	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.617	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	C	NM_006702		7614939	+1	no_errors	ENST00000414982	ensembl	human	known	70_37	silent	SNP	1.000	T
POLA1	5422	genome.wustl.edu	37	X	24717569	24717569	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:24717569C>G	ENST00000379059.3	+	2	68	c.53C>G	c.(52-54)tCt>tGt	p.S18C	AC004655.1_ENST00000577230.1_RNA|POLA1_ENST00000379068.3_Missense_Mutation_p.S24C	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	18					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AGTTTTGTATCTTCTCGAGCC	0.383																																																	0													21.0	22.0	22.0					X																	24717569		2200	4294	6494	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.53C>G	X.37:g.24717569C>G	ENSP00000368349:p.Ser18Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UQ7	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.S24C	ENST00000379059.3	37	c.71	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365887	0.24684	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.19669	2.13;2.13	5.05	3.22	0.36961	.	0.468088	0.23141	N	0.051474	T	0.11580	0.0282	N	0.14661	0.345	0.09310	N	1	B;B	0.33448	0.412;0.138	B;B	0.30855	0.121;0.088	T	0.15838	-1.0423	10	0.66056	D	0.02	-2.0E-4	8.5464	0.33424	0.0:0.793:0.0:0.207	.	24;18	A6NMQ1;P09884	.;DPOLA_HUMAN	C	24;18	ENSP00000368358:S24C;ENSP00000368349:S18C	ENSP00000368349:S18C	S	+	2	0	POLA1	24627490	0.887000	0.30362	0.405000	0.26409	0.830000	0.47004	1.280000	0.33202	0.478000	0.27488	-0.322000	0.08575	TCT	POLA1	-	NULL		0.383	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	C	NM_016937		24717569	+1	no_errors	ENST00000379068	ensembl	human	known	70_37	missense	SNP	0.415	G
POLB	5423	genome.wustl.edu	37	8	42227439	42227439	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:42227439G>A	ENST00000265421.4	+	13	1016	c.846G>A	c.(844-846)atG>atA	p.M282I	POLB_ENST00000538005.1_Missense_Mutation_p.M128I|POLB_ENST00000521492.1_Start_Codon_SNP_p.M1I	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	282					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ATAAGAATATGAGGGCTCATG	0.398								DNA polymerases (catalytic subunits)																																									0													113.0	110.0	111.0					8																	42227439		2203	4300	6503	SO:0001583	missense	5423				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.846G>A	8.37:g.42227439G>A	ENSP00000265421:p.Met282Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.M282I	ENST00000265421.4	37	c.846	CCDS6129.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.608637|4.608637	0.87258|0.87258	.|.	.|.	ENSG00000070501|ENSG00000070501	ENST00000521290|ENST00000265421;ENST00000538005;ENST00000521492	.|T;T;T	.|0.50548	.|0.74;0.74;0.74	4.95|4.95	4.95|4.95	0.65309|0.65309	.|DNA-directed DNA polymerase X (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59224|0.59224	0.2178|0.2178	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	.|P;P	.|0.52061	.|0.913;0.95	.|P;P	.|0.54026	.|0.74;0.612	T|T	0.57551|0.57551	-0.7792|-0.7792	5|10	.|0.33141	.|T	.|0.24	-50.4895|-50.4895	16.0197|16.0197	0.80472|0.80472	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|282;282	.|Q53EV2;P06746	.|.;DPOLB_HUMAN	K|I	184|282;128;1	.|ENSP00000265421:M282I;ENSP00000440497:M128I;ENSP00000430831:M1I	.|ENSP00000265421:M282I	E|M	+|+	1|3	0|0	POLB|POLB	42346596|42346596	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	9.745000|9.745000	0.98856|0.98856	2.448000|2.448000	0.82819|0.82819	0.491000|0.491000	0.48974|0.48974	GAG|ATG	POLB	-	smart_DNA-dir_DNA_pol_X,prints_DNA_pol_X		0.398	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	HGNC	protein_coding	OTTHUMT00000377242.1	G	NM_002690		42227439	+1	no_errors	ENST00000265421	ensembl	human	known	70_37	missense	SNP	1.000	A
POLE4	56655	genome.wustl.edu	37	2	75196616	75196616	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:75196616C>T	ENST00000483063.1	+	0	609					NM_019896.2	NP_063949.2	Q9NR33	DPOE4_HUMAN	polymerase (DNA-directed), epsilon 4, accessory subunit						DNA-dependent DNA replication (GO:0006261)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|epsilon DNA polymerase complex (GO:0008622)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			lung(1)	1					Cladribine(DB00242)	GCACAGGCCTCAGCTTTGAAG	0.473																																																	0													87.0	73.0	77.0					2																	75196616		692	1591	2283	SO:0001624	3_prime_UTR_variant	56655			AF261688	CCDS1957.1	2p12	2012-05-18	2012-05-18		ENSG00000115350	ENSG00000115350		"""DNA polymerases"""	18755	protein-coding gene	gene with protein product		607269	"""polymerase (DNA-directed), epsilon 4 (p12 subunit)"""			10801849	Standard	NM_019896		Approved	p12	uc002snf.3	Q9NR33	OTTHUMG00000129971	ENST00000483063.1:c.*67C>T	2.37:g.75196616C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TR2	RNA	SNP	-	NULL	ENST00000483063.1	37	NULL	CCDS1957.1	2																																																																																			POLE4	-	-		0.473	POLE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE4	HGNC	protein_coding	OTTHUMT00000252237.2	C	NM_019896		75196616	+1	no_errors	ENST00000233699	ensembl	human	known	70_37	rna	SNP	0.976	T
POLR2A	5430	genome.wustl.edu	37	17	7400231	7400231	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7400231C>T	ENST00000322644.6	+	5	1085	c.686C>T	c.(685-687)tCa>tTa	p.S229L	POLR2A_ENST00000572844.1_Missense_Mutation_p.S229L	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	229					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				AAACGCATCTCAGATGAGGAG	0.552																																																	0													116.0	87.0	97.0					17																	7400231		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.686C>T	17.37:g.7400231C>T	ENSP00000314949:p.Ser229Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.S229L	ENST00000322644.6	37	c.686	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673498	0.88445	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.66815	-0.23	5.49	5.49	0.81192	RNA polymerase Rpb1, domain 1 (1);	0.148904	0.46145	D	0.000308	D	0.83982	0.5372	M	0.92833	3.35	0.45528	D	0.998488	P;P	0.49185	0.92;0.901	P;B	0.55923	0.787;0.446	D	0.87798	0.2623	10	0.87932	D	0	-7.711	18.1461	0.89655	0.0:1.0:0.0:0.0	.	229;229	P24928;Q6NX41	RPB1_HUMAN;.	L	185;229	ENSP00000314949:S229L	ENSP00000314949:S229L	S	+	2	0	SLC35G6	7340955	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	7.158000	0.77470	2.584000	0.87258	0.563000	0.77884	TCA	POLR2A	-	pfam_RNA_pol_Rpb1_1		0.552	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	C	NM_000937		7400231	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	T
POLG2	11232	genome.wustl.edu	37	17	62474003	62474003	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:62474003C>G	ENST00000539111.2	-	8	1462	c.1395G>C	c.(1393-1395)atG>atC	p.M465I	POLG2_ENST00000582501.1_5'Flank	NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	465					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)	extracellular vesicular exosome (GO:0070062)|mitochondrial chromosome (GO:0000262)|mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ATATATGCATCATTTCCTTCA	0.284																																					Colon(3;18 21 435 17652 48887)												0													96.0	87.0	90.0					17																	62474003		2202	4298	6500	SO:0001583	missense	11232			U94703	CCDS32706.1	17q23.3	2012-05-18			ENSG00000256525	ENSG00000256525		"""DNA polymerases"""	9180	protein-coding gene	gene with protein product		604983				9153213	Standard	NM_007215		Approved	MTPOLB, HP55	uc002jei.3	Q9UHN1		ENST00000539111.2:c.1395G>C	17.37:g.62474003C>G	ENSP00000442563:p.Met465Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O00419|Q0IJ81|Q96GW2|Q9UK35|Q9UK94	Missense_Mutation	SNP	pfam_Anticodon-bd,superfamily_Anticodon-bd	p.M465I	ENST00000539111.2	37	c.1395	CCDS32706.1	17	.	.	.	.	.	.	.	.	.	.	C	6.424	0.446350	0.12223	.	.	ENSG00000256525	ENST00000539111	D	0.82255	-1.59	5.76	4.78	0.61160	Anticodon-binding (3);	0.105286	0.64402	D	0.000006	T	0.78547	0.4300	L	0.51422	1.61	0.35137	D	0.768534	B	0.21520	0.057	B	0.24974	0.057	T	0.81185	-0.1048	10	0.87932	D	0	-18.9194	10.6338	0.45551	0.0:0.7993:0.1307:0.07	.	465	Q9UHN1	DPOG2_HUMAN	I	465	ENSP00000442563:M465I	ENSP00000442563:M465I	M	-	3	0	POLG2	59904465	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	1.386000	0.34419	2.741000	0.93983	0.454000	0.30748	ATG	POLG2	-	pfam_Anticodon-bd,superfamily_Anticodon-bd		0.284	POLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG2	HGNC	protein_coding	OTTHUMT00000443820.1	C	NM_007215		62474003	-1	no_errors	ENST00000539111	ensembl	human	known	70_37	missense	SNP	1.000	G
POLRMT	5442	genome.wustl.edu	37	19	622168	622168	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:622168G>T	ENST00000588649.2	-	9	1916	c.1832C>A	c.(1831-1833)tCc>tAc	p.S611Y	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	611					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTTGCGGAAGGAATACACGTG	0.662																																																	0													18.0	14.0	16.0					19																	622168		2187	4290	6477	SO:0001583	missense	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.1832C>A	19.37:g.622168G>T	ENSP00000465759:p.Ser611Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.S626Y	ENST00000588649.2	37	c.1877	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	.	15.97	2.988367	0.53934	.	.	ENSG00000099821	ENST00000215591	T	0.44482	0.92	4.01	4.01	0.46588	.	0.190865	0.44483	D	0.000454	T	0.54791	0.1880	M	0.62723	1.935	0.38945	D	0.958229	D	0.61697	0.99	P	0.59703	0.862	T	0.61008	-0.7149	10	0.62326	D	0.03	-45.785	11.6607	0.51345	0.0:0.1798:0.8202:0.0	.	611	O00411	RPOM_HUMAN	Y	611	ENSP00000215591:S611Y	ENSP00000215591:S611Y	S	-	2	0	POLRMT	573168	1.000000	0.71417	0.998000	0.56505	0.363000	0.29612	6.037000	0.70956	2.234000	0.73211	0.455000	0.32223	TCC	POLRMT	-	NULL		0.662	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	G	NM_005035		622168	-1	no_errors	ENST00000588649	ensembl	human	known	70_37	missense	SNP	1.000	T
POM121L4P	266697	genome.wustl.edu	37	22	21044423	21044423	+	RNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:21044423C>G	ENST00000412250.3	+	0	105									POM121 transmembrane nucleoporin-like 4 pseudogene											breast(2)	2						TGAGGGCCCTCAAGGAGAGCG	0.617																																																	0																																												266697					22q11.2	2012-03-13	2012-03-13		ENSG00000217261	ENSG00000217261			19326	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 4 pseudogene (rat)"", ""POM121 membrane glycoprotein-like 4 pseudogene"""				Standard	NR_024592		Approved		uc002zsw.2		OTTHUMG00000150756		22.37:g.21044423C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L35	ENST00000412250.3	37	c.105		22																																																																																			POM121L4P	-	NULL		0.617	POM121L4P-002	KNOWN	basic|exp_conf	processed_transcript	POM121L4P	HGNC	pseudogene	OTTHUMT00000468456.1	C			21044423	+1	no_errors	ENST00000412250	ensembl	human	known	70_37	silent	SNP	0.000	G
POMT1	10585	genome.wustl.edu	37	9	134386533	134386533	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:134386533G>C	ENST00000372228.3	+	10	1100				POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Intron|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000354713.4_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000423007.1_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1						carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ggcagcatttgatcagactta	0.448																																																	0																																										SO:0001627	intron_variant	10585			AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.922-191G>C	9.37:g.134386533G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	RNA	SNP	-	NULL	ENST00000372228.3	37	NULL	CCDS6943.1	9																																																																																			POMT1	-	-		0.448	POMT1-001	KNOWN	basic|CCDS	protein_coding	POMT1	HGNC	protein_coding	OTTHUMT00000054737.1	G	NM_007171		134386533	+1	no_errors	ENST00000485278	ensembl	human	known	70_37	rna	SNP	0.000	C
POTEJ	653781	genome.wustl.edu	37	2	131415303	131415303	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:131415303C>T	ENST00000409602.1	+	15	3022	c.2970C>T	c.(2968-2970)atC>atT	p.I990I		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	990	Actin-like.				retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						TGATGAAGATCAGGATCATTG	0.592																																																	0																																										SO:0001819	synonymous_variant	653781				CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.2970C>T	2.37:g.131415303C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.I990	ENST00000409602.1	37	c.2970	CCDS59432.1	2																																																																																			POTEJ	-	pfam_Actin-like,smart_Actin-like		0.592	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	C	XM_929706		131415303	+1	no_errors	ENST00000409602	ensembl	human	novel	70_37	silent	SNP	1.000	T
POTEM	641455	genome.wustl.edu	37	14	20002266	20002266	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:20002266C>T	ENST00000551509.1	-	7	1207	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	386										endometrium(4)|kidney(1)|lung(4)	9						CTTTGTGACTCTTCCTCTGAT	0.303																																																	0																																										SO:0001583	missense	641455				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.1156G>A	14.37:g.20002266C>T	ENSP00000452296:p.Glu386Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E386K	ENST00000551509.1	37	c.1156	CCDS45076.1	14	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830344	0.32329	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.28069	1.63	1.18	1.18	0.20946	.	.	.	.	.	T	0.17450	0.0419	L	0.32530	0.975	0.09310	N	1	B	0.32245	0.361	B	0.22880	0.042	T	0.14227	-1.0480	8	.	.	.	.	5.7807	0.18304	0.0:1.0:0.0:0.0	.	386	A6NI47	POTEM_HUMAN	K	386;471;386	ENSP00000452296:E386K	.	E	-	1	0	POTEM	19072266	0.199000	0.23386	0.104000	0.21259	0.594000	0.36715	0.685000	0.25378	0.955000	0.37878	0.184000	0.17185	GAG	POTEM	-	NULL		0.303	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	C	NM_001145442		20002266	-1	no_errors	ENST00000547848	ensembl	human	known	70_37	missense	SNP	0.152	T
POU2F1	5451	genome.wustl.edu	37	1	167190159	167190159	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:167190159C>G	ENST00000541643.3	+	0	17				POU2F1_ENST00000367866.2_Missense_Mutation_p.Q9E|POU2F1_ENST00000429375.2_Missense_Mutation_p.Q9E|POU2F1_ENST00000420254.3_5'UTR|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000452019.1_5'UTR|RP11-277B15.3_ENST00000606967.1_RNA			P14859	PO2F1_HUMAN	POU class 2 homeobox 1						gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCAGCGAGTCAAGATGAGAG	0.572																																																	0																																										SO:0001623	5_prime_UTR_variant	5451			BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.-146C>G	1.37:g.167190159C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.Q9E	ENST00000541643.3	37	c.25		1	.	.	.	.	.	.	.	.	.	.	c	17.71	3.457311	0.63401	.	.	ENSG00000143190	ENST00000367866;ENST00000429375	D;D	0.85339	-1.97;-1.97	4.16	4.16	0.48862	.	.	.	.	.	T	0.75459	0.3852	N	0.14661	0.345	0.80722	D	1	.	.	.	.	.	.	T	0.82341	-0.0505	7	0.87932	D	0	.	16.0697	0.80914	0.0:1.0:0.0:0.0	.	.	.	.	E	9	ENSP00000356840:Q9E;ENSP00000401217:Q9E	ENSP00000271411:Q9E	Q	+	1	0	POU2F1	165456783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.275000	0.72594	1.866000	0.54105	0.443000	0.29094	CAA	POU2F1	-	NULL		0.572	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	POU2F1	HGNC	protein_coding		C	NM_002697		167190159	+1	no_errors	ENST00000367866	ensembl	human	known	70_37	missense	SNP	1.000	G
POU5F2	134187	genome.wustl.edu	37	5	93077198	93077198	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:93077198C>T	ENST00000510627.4	-	1	145	c.72G>A	c.(70-72)ccG>ccA	p.P24P	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron|RP11-185E12.2_ENST00000606528.1_RNA|POU5F2_ENST00000606183.1_5'Flank|FAM172A_ENST00000395965.3_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	24					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GCAGGGGCATCGGCCCTCTGG	0.701																																																	0													15.0	19.0	18.0					5																	93077198		1913	4106	6019	SO:0001819	synonymous_variant	134187				CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.72G>A	5.37:g.93077198C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15169|Q6MZL7|Q8N748	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.P24	ENST00000510627.4	37	c.72	CCDS59489.1	5																																																																																			POU5F2	-	NULL		0.701	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F2	HGNC	protein_coding	OTTHUMT00000369873.5	C	NM_153216		93077198	-1	no_errors	ENST00000510627	ensembl	human	known	70_37	silent	SNP	0.000	T
PPIAL4A	164022	genome.wustl.edu	37	1	147955334	147955334	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:147955334G>A	ENST00000539781.1	-	1	85	c.11C>T	c.(10-12)tCc>tTc	p.S4F		NM_178230.1	NP_839944.1	Q9Y536	PAL4A_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4A	4					protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)	1						AAAGACGACGGAGTTGACCAT	0.463																																																	0																																										SO:0001583	missense	653505			AB084917		1q21.1	2012-10-03	2008-09-16	2008-09-16	ENSG00000255963				24369	protein-coding gene	gene with protein product			"""peptidylprolyl isomerase A (cyclophilin A)-like 4"""	PPIAL4		11948409	Standard			Approved	COAS2		Q9Y536	OTTHUMG00000013920	ENST00000539781.1:c.11C>T	1.37:g.147955334G>A	ENSP00000439146:p.Ser4Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.S4F	ENST00000539781.1	37	c.11	CCDS30835.1	1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259630	0.23051	.	.	ENSG00000255963	ENST00000539781	T	0.46451	0.87	0.109	0.109	0.14578	.	0.219744	0.38663	U	0.001606	T	0.22551	0.0544	.	.	.	0.26630	N	0.972485	.	.	.	.	.	.	T	0.14227	-1.0480	7	0.87932	D	0	.	5.9913	0.19465	6.0E-4:0.0:0.9994:0.0	.	.	.	.	F	4	ENSP00000439146:S4F	ENSP00000439146:S4F	S	-	2	0	PPIAL4A	146421958	0.969000	0.33509	0.001000	0.08648	0.001000	0.01503	1.707000	0.37888	0.181000	0.19994	0.184000	0.17185	TCC	PPIAL4A	-	superfamily_Cyclophilin-like_PPIase_dom		0.463	PPIAL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIAL4A	HGNC	protein_coding	OTTHUMT00000039085.2	G	NM_178230		147955334	-1	no_errors	ENST00000539781	ensembl	human	known	70_37	missense	SNP	0.996	A
PPP1CC	5501	genome.wustl.edu	37	12	111160271	111160271	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:111160271C>G	ENST00000335007.5	-	5	938				PPP1CC_ENST00000546933.1_Intron|PPP1CC_ENST00000550991.1_Intron|PPP1CC_ENST00000340766.5_Intron|PPP1CC_ENST00000551676.1_Missense_Mutation_p.L251F	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme						cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						AATTCAAAATCAATACCTGAT	0.368																																																	0													73.0	69.0	70.0					12																	111160271		2203	4300	6503	SO:0001627	intron_variant	5501				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.747+5G>C	12.37:g.111160271C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.L251F	ENST00000335007.5	37	c.753	CCDS9150.1	12	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434489	0.43224	.	.	ENSG00000186298	ENST00000551676	T	0.05580	3.42	5.59	4.69	0.59074	.	.	.	.	.	T	0.10852	0.0265	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11591	-1.0581	6	0.87932	D	0	.	8.7748	0.34756	0.0:0.7939:0.0:0.2061	.	.	.	.	F	251	ENSP00000448437:L251F	ENSP00000448437:L251F	L	-	3	2	PPP1CC	109644654	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.353000	0.20130	2.794000	0.96219	0.655000	0.94253	TTG	PPP1CC	-	smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase		0.368	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CC	HGNC	protein_coding	OTTHUMT00000404659.1	C			111160271	-1	no_errors	ENST00000551676	ensembl	human	putative	70_37	missense	SNP	1.000	G
PPP1R16A	84988	genome.wustl.edu	37	8	145727029	145727029	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:145727029C>G	ENST00000292539.4	+	11	2247	c.1330C>G	c.(1330-1332)Ccc>Gcc	p.P444A	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.P444A|GPT_ENST00000394955.2_5'Flank|CTD-2517M22.14_ENST00000532766.1_RNA|GPT_ENST00000528431.1_5'Flank|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	444						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGCACCACCCCCCACACCCT	0.667																																																	0													58.0	45.0	49.0					8																	145727029		2198	4297	6495	SO:0001583	missense	84988				CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1330C>G	8.37:g.145727029C>G	ENSP00000292539:p.Pro444Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWM5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P444A	ENST00000292539.4	37	c.1330	CCDS6429.1	8	.	.	.	.	.	.	.	.	.	.	C	3.106	-0.183606	0.06340	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.69685	-0.42;-0.42	4.34	3.45	0.39498	.	0.225716	0.36167	N	0.002744	T	0.52224	0.1721	L	0.34521	1.04	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.33033	-0.9884	10	0.21540	T	0.41	.	11.7291	0.51726	0.0:0.806:0.194:0.0	.	444	Q96I34	PP16A_HUMAN	A	444	ENSP00000292539:P444A;ENSP00000391126:P444A	ENSP00000292539:P444A	P	+	1	0	PPP1R16A	145697837	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.194000	0.17135	0.773000	0.33404	0.462000	0.41574	CCC	PPP1R16A	-	pirsf_Pase-1_reg_su_16AB_euk		0.667	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	HGNC	protein_coding	OTTHUMT00000382459.1	C	NM_032902		145727029	+1	no_errors	ENST00000292539	ensembl	human	known	70_37	missense	SNP	0.044	G
PPP1R37	284352	genome.wustl.edu	37	19	45648381	45648381	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:45648381G>A	ENST00000221462.4	+	10	1523	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	PPP1R37_ENST00000421905.1_Missense_Mutation_p.E383K	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	387					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GTTCATCGCTGAGAGCCCCCG	0.706																																																	0																																										SO:0001583	missense	284352			BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.1159G>A	19.37:g.45648381G>A	ENSP00000221462:p.Glu387Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDA4|Q8IWK3|Q8TF16	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E387K	ENST00000221462.4	37	c.1159	CCDS56096.1	19	.	.	.	.	.	.	.	.	.	.	G	17.13	3.311878	0.60414	.	.	ENSG00000104866	ENST00000421905;ENST00000221462	T;T	0.50548	0.74;0.74	5.45	5.45	0.79879	.	0.332935	0.34025	N	0.004324	T	0.39517	0.1081	N	0.21282	0.65	0.49915	D	0.999832	.	.	.	.	.	.	T	0.11275	-1.0594	8	0.07482	T	0.82	-20.9356	16.8289	0.85939	0.0:0.0:1.0:0.0	.	.	.	.	K	383;387	ENSP00000390861:E383K;ENSP00000221462:E387K	ENSP00000221462:E387K	E	+	1	0	LRRC68	50340221	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.489000	0.81451	2.578000	0.87016	0.456000	0.33151	GAG	PPP1R37	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.706	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	G	NM_173634		45648381	+1	no_errors	ENST00000221462	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R37	284352	genome.wustl.edu	37	19	45649049	45649049	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:45649049G>A	ENST00000221462.4	+	11	2099	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	PPP1R37_ENST00000421905.1_Missense_Mutation_p.E575K	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	579	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GAGCCCGCCCGAGAGGGCAGA	0.726																																																	0																																										SO:0001583	missense	284352			BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.1735G>A	19.37:g.45649049G>A	ENSP00000221462:p.Glu579Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDA4|Q8IWK3|Q8TF16	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E579K	ENST00000221462.4	37	c.1735	CCDS56096.1	19	.	.	.	.	.	.	.	.	.	.	g	11.92	1.783192	0.31593	.	.	ENSG00000104866	ENST00000421905;ENST00000221462	T;T	0.71103	-0.54;-0.26	4.14	3.1	0.35709	.	.	.	.	.	T	0.76716	0.4026	L	0.50333	1.59	0.41181	D	0.986231	D	0.89917	1.0	D	0.81914	0.995	T	0.73754	-0.3883	9	0.35671	T	0.21	-0.9733	9.8646	0.41136	0.0:0.2087:0.7912:0.0	.	579	B5MDA4	.	K	575;579	ENSP00000390861:E575K;ENSP00000221462:E579K	ENSP00000221462:E579K	E	+	1	0	LRRC68	50340889	1.000000	0.71417	0.928000	0.36995	0.528000	0.34623	6.592000	0.74095	0.966000	0.38159	-0.358000	0.07595	GAG	PPP1R37	-	NULL		0.726	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	G	NM_173634		45649049	+1	no_errors	ENST00000221462	ensembl	human	known	70_37	missense	SNP	0.989	A
PPP1R3A	5506	genome.wustl.edu	37	7	113518448	113518448	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:113518448G>A	ENST00000284601.3	-	4	2767	c.2699C>T	c.(2698-2700)tCt>tTt	p.S900F		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	900					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTAAAAGCAGAATGCACAAT	0.378																																																	0													88.0	85.0	86.0					7																	113518448		2203	4299	6502	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2699C>T	7.37:g.113518448G>A	ENSP00000284601:p.Ser900Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S900F	ENST00000284601.3	37	c.2699	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	9.959	1.222346	0.22457	.	.	ENSG00000154415	ENST00000284601	T	0.19938	2.11	5.81	4.85	0.62838	.	0.565635	0.17468	N	0.173197	T	0.37705	0.1013	M	0.69823	2.125	0.09310	N	1	D	0.64830	0.994	P	0.59221	0.854	T	0.16158	-1.0412	10	0.37606	T	0.19	-6.7808	10.032	0.42107	0.0:0.1134:0.6636:0.2229	.	900	Q16821	PPR3A_HUMAN	F	900	ENSP00000284601:S900F	ENSP00000284601:S900F	S	-	2	0	PPP1R3A	113305684	0.005000	0.15991	0.973000	0.42090	0.217000	0.24651	1.309000	0.33539	2.730000	0.93505	0.650000	0.86243	TCT	PPP1R3A	-	NULL		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113518448	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	missense	SNP	0.003	A
PPP1R9B	84687	genome.wustl.edu	37	17	48222543	48222543	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:48222543G>C	ENST00000316878.6	-	4	1435	c.1433C>G	c.(1432-1434)tCt>tGt	p.S478C	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	478	Interacts with RGS2. {ECO:0000250}.|Interacts with protein phosphatase 1. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						GTACTCAGCAGAGGCTGCCAT	0.607																																																	0													99.0	108.0	105.0					17																	48222543		2180	4286	6466	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1433C>G	17.37:g.48222543G>C	ENSP00000475417:p.Ser478Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-		0.607	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		G	NM_032595		48222543	-1	no_errors	ENST00000316878	ensembl	human	known	70_37	rna	SNP	1.000	C
PPP2R4	5524	genome.wustl.edu	37	9	131882887	131882887	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:131882887C>T	ENST00000337738.1	+	2	394	c.127C>T	c.(127-129)Cag>Tag	p.Q43*	PPP2R4_ENST00000355007.3_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000358994.4_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000452489.2_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000348141.5_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000393370.2_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000347048.4_Nonsense_Mutation_p.Q43*|PPP2R4_ENST00000357197.4_Nonsense_Mutation_p.Q43*	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	43					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GAAGCGTTCTCAGGTACCATT	0.493																																					Colon(158;2158 2504 4450 20433)												0													62.0	63.0	62.0					9																	131882887		2203	4300	6503	SO:0001587	stop_gained	5524			X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.127C>T	9.37:g.131882887C>T	ENSP00000337448:p.Gln43*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Nonsense_Mutation	SNP	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac	p.Q43*	ENST00000337738.1	37	c.127		9	.	.	.	.	.	.	.	.	.	.	C	38	6.880282	0.97904	.	.	ENSG00000119383	ENST00000358994;ENST00000455292;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000452489;ENST00000347048;ENST00000357197;ENST00000445241;ENST00000355007;ENST00000417728;ENST00000453358;ENST00000417504;ENST00000440346	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-28.791	16.631	0.85032	0.0:1.0:0.0:0.0	.	.	.	.	X	43;43;43;43;43;43;43;43;43;43;8;8;60;8	.	ENSP00000337448:Q43X	Q	+	1	0	PPP2R4	130922708	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.251000	0.78297	2.249000	0.74217	0.462000	0.41574	CAG	PPP2R4	-	pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac		0.493	PPP2R4-201	KNOWN	basic	protein_coding	PPP2R4	HGNC	protein_coding		C	NM_021131		131882887	+1	no_errors	ENST00000452489	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PPP2R5B	5526	genome.wustl.edu	37	11	64698937	64698937	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:64698937G>A	ENST00000164133.2	+	9	1543	c.921G>A	c.(919-921)gaG>gaA	p.E307E		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	307					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						AGTTCCTGGAGAAGGATGCCA	0.602																																																	0													80.0	64.0	69.0					11																	64698937		2201	4297	6498	SO:0001819	synonymous_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.921G>A	11.37:g.64698937G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13853	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E307	ENST00000164133.2	37	c.921	CCDS8085.1	11	.	.	.	.	.	.	.	.	.	.	G	6.688	0.495463	0.12762	.	.	ENSG00000068971	ENST00000359279	.	.	.	4.53	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62248	-0.6894	6	0.87932	D	0	-28.0072	5.7033	0.17895	0.3036:0.0:0.6964:0.0	.	.	.	.	K	333	.	ENSP00000352225:E333K	E	+	1	0	PPP2R5B	64455513	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.082000	0.57635	1.259000	0.44117	0.462000	0.41574	GAA	PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.602	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	G	NM_006244		64698937	+1	no_errors	ENST00000164133	ensembl	human	known	70_37	silent	SNP	1.000	A
PPP3CA	5530	genome.wustl.edu	37	4	102014971	102014971	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:102014971G>A	ENST00000394854.3	-	6	1427	c.744C>T	c.(742-744)ttC>ttT	p.F248F	PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Silent_p.F150F|PPP3CA_ENST00000394853.4_Silent_p.F248F|PPP3CA_ENST00000523694.2_Silent_p.F181F|PPP3CA_ENST00000323055.6_Silent_p.F248F|PPP3CA_ENST00000510292.1_5'Flank	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	248	Calcineurin B binding-site 1. {ECO:0000255}.|Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGTTGTGAGTGAAATGTTCCT	0.433																																																	0													157.0	149.0	152.0					4																	102014971		2203	4300	6503	SO:0001819	synonymous_variant	5530				CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.744C>T	4.37:g.102014971G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Silent	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.F248	ENST00000394854.3	37	c.744	CCDS34037.1	4																																																																																			PPP3CA	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase		0.433	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPP3CA	HGNC	protein_coding	OTTHUMT00000258379.2	G	NM_000944		102014971	-1	no_errors	ENST00000394854	ensembl	human	known	70_37	silent	SNP	1.000	A
PPP4R1	9989	genome.wustl.edu	37	18	9549288	9549288	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:9549288G>C	ENST00000400556.3	-	19	2669	c.2596C>G	c.(2596-2598)Ctc>Gtc	p.L866V	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L849V	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	866					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TGCGGCATGAGATGCACAGCA	0.468																																					Melanoma(188;1232 2082 5061 11948 35994)												0													148.0	143.0	144.0					18																	9549288		2006	4180	6186	SO:0001583	missense	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2596C>G	18.37:g.9549288G>C	ENSP00000383402:p.Leu866Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L866V	ENST00000400556.3	37	c.2596	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935427	0.52866	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.36157	1.27;1.27	5.51	3.67	0.42095	Armadillo-like helical (1);Armadillo-type fold (1);	0.208125	0.32901	N	0.005501	T	0.26448	0.0646	N	0.25890	0.77	0.45515	D	0.998476	B;B;B	0.27679	0.043;0.185;0.064	B;B;B	0.36808	0.066;0.071;0.233	T	0.06356	-1.0831	9	.	.	.	-15.572	7.8826	0.29631	0.1435:0.133:0.7235:0.0	.	849;866;849	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	V	866;849	ENSP00000383402:L866V;ENSP00000383401:L849V	.	L	-	1	0	PPP4R1	9539288	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.261000	0.65496	1.421000	0.47157	0.655000	0.94253	CTC	PPP4R1	-	superfamily_ARM-type_fold		0.468	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	G	NM_005134		9549288	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP4R1	9989	genome.wustl.edu	37	18	9562029	9562029	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:9562029C>G	ENST00000400556.3	-	13	1864	c.1791G>C	c.(1789-1791)ttG>ttC	p.L597F	PPP4R1_ENST00000400555.3_Missense_Mutation_p.L580F	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	597					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TATTGTTGCTCAAGTCTGAAT	0.373																																					Melanoma(188;1232 2082 5061 11948 35994)												0													169.0	158.0	161.0					18																	9562029		1882	4101	5983	SO:0001583	missense	9989			AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1791G>C	18.37:g.9562029C>G	ENSP00000383402:p.Leu597Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q99774|Q9UNQ7	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L597F	ENST00000400556.3	37	c.1791	CCDS42412.1	18	.	.	.	.	.	.	.	.	.	.	C	9.743	1.165480	0.21538	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.20463	2.08;2.07	5.5	4.62	0.57501	Armadillo-type fold (1);	0.335595	0.20502	N	0.091065	T	0.27063	0.0663	L	0.60455	1.87	0.37315	D	0.90929	B;P;B	0.34587	0.164;0.458;0.006	B;B;B	0.42188	0.071;0.379;0.029	T	0.13072	-1.0523	9	.	.	.	-2.4263	10.5933	0.45323	0.0:0.8443:0.0:0.1557	.	580;597;580	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	F	597;580	ENSP00000383402:L597F;ENSP00000383401:L580F	.	L	-	3	2	PPP4R1	9552029	1.000000	0.71417	0.998000	0.56505	0.474000	0.32979	1.354000	0.34056	1.310000	0.45006	0.655000	0.94253	TTG	PPP4R1	-	superfamily_ARM-type_fold		0.373	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP4R1	HGNC	protein_coding	OTTHUMT00000268571.1	C	NM_005134		9562029	-1	no_errors	ENST00000400556	ensembl	human	known	70_37	missense	SNP	1.000	G
PPP4R4	57718	genome.wustl.edu	37	14	94716590	94716590	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:94716590G>C	ENST00000304338.3	+	15	1847	c.1693G>C	c.(1693-1695)Gag>Cag	p.E565Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	565					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACAGAGACATGAGGTCATTCA	0.323																																																	0													118.0	106.0	110.0					14																	94716590		2202	4300	6502	SO:0001583	missense	57718			AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1693G>C	14.37:g.94716590G>C	ENSP00000305924:p.Glu565Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUF8|Q9HCF0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E565Q	ENST00000304338.3	37	c.1693	CCDS9921.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677888	0.88445	.	.	ENSG00000119698	ENST00000304338	T	0.33216	1.42	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.093233	0.64402	N	0.000001	T	0.58609	0.2134	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.59010	-0.7534	10	0.59425	D	0.04	-16.7164	19.8403	0.96679	0.0:0.0:1.0:0.0	.	565	Q6NUP7	PP4R4_HUMAN	Q	565	ENSP00000305924:E565Q	ENSP00000305924:E565Q	E	+	1	0	PPP4R4	93786343	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.429000	0.90280	2.692000	0.91855	0.455000	0.32223	GAG	PPP4R4	-	superfamily_ARM-type_fold		0.323	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP4R4	HGNC	protein_coding	OTTHUMT00000413056.1	G	NM_058237		94716590	+1	no_errors	ENST00000304338	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP6R3	55291	genome.wustl.edu	37	11	68369359	68369359	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:68369359C>T	ENST00000393800.2	+	21	2475	c.2221C>T	c.(2221-2223)Cca>Tca	p.P741S	PPP6R3_ENST00000524904.1_Missense_Mutation_p.P735S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.P661S|PPP6R3_ENST00000534534.1_Missense_Mutation_p.P509S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.P695S|PPP6R3_ENST00000393799.2_Missense_Mutation_p.P741S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.P706S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.P741S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.P712S|PPP6R3_ENST00000529710.1_Missense_Mutation_p.P661S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	741					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAGTAATTCTCCAGTGGAAAT	0.488																																																	0													103.0	113.0	110.0					11																	68369359		2200	4294	6494	SO:0001583	missense	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2221C>T	11.37:g.68369359C>T	ENSP00000377389:p.Pro741Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.P741S	ENST00000393800.2	37	c.2221	CCDS53672.1	11	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535439	0.85812	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000534190	T;T;T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.997;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;0.994;0.996;0.919;1.0;1.0;0.999;0.997	T	0.77528	-0.2554	10	0.44086	T	0.13	.	18.3211	0.90238	0.0:1.0:0.0:0.0	.	424;509;661;712;735;741;741;661	B4DYU6;E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;.;PP6R3_HUMAN;.;.	S	741;741;509;712;695;735;741;661;661;706;448	ENSP00000377388:P741S;ENSP00000377389:P741S;ENSP00000434429:P509S;ENSP00000431415:P712S;ENSP00000265637:P695S;ENSP00000433058:P735S;ENSP00000377390:P741S;ENSP00000265636:P661S;ENSP00000437329:P661S;ENSP00000433565:P706S;ENSP00000436209:P448S	ENSP00000265636:P661S	P	+	1	0	PPP6R3	68125935	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	6.823000	0.75282	2.558000	0.86282	0.591000	0.81541	CCA	PPP6R3	-	NULL		0.488	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP6R3	HGNC	protein_coding	OTTHUMT00000395275.1	C	NM_018312		68369359	+1	no_errors	ENST00000393799	ensembl	human	known	70_37	missense	SNP	1.000	T
PRDM16	63976	genome.wustl.edu	37	1	3319477	3319477	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:3319477G>A	ENST00000270722.5	+	6	848	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PRDM16_ENST00000442529.2_Missense_Mutation_p.E267K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E267K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E267K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E268K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E268K|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Missense_Mutation_p.E268K			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	267					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCTGGCTGAGGAGCTCAAGCC	0.642			T	EVI1	"""MDS, AML"""																																			Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													48.0	59.0	55.0					1																	3319477		2155	4262	6417	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.799G>A	1.37:g.3319477G>A	ENSP00000270722:p.Glu267Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E267K	ENST00000270722.5	37	c.799	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167931	0.38315	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05319	3.49;3.52;3.52;3.54;3.52;3.5;3.53;3.46;3.46	4.32	4.32	0.51571	.	0.355450	0.19000	U	0.125370	T	0.03220	0.0094	N	0.17082	0.46	0.34425	D	0.69791	B;P;B;B	0.35272	0.361;0.493;0.332;0.116	B;B;B;B	0.24394	0.024;0.053;0.047;0.024	T	0.34129	-0.9841	10	0.08381	T	0.77	.	11.4489	0.50140	0.0926:0.0:0.9074:0.0	.	267;267;267;267	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	K	268;268;267;267;267;268;267;83;83;76	ENSP00000426975:E268K;ENSP00000367651:E268K;ENSP00000407968:E267K;ENSP00000405253:E267K;ENSP00000367643:E267K;ENSP00000421400:E268K;ENSP00000270722:E267K;ENSP00000422504:E83K;ENSP00000425796:E76K	ENSP00000270722:E267K	E	+	1	0	PRDM16	3309337	1.000000	0.71417	0.121000	0.21740	0.905000	0.53344	6.118000	0.71583	1.949000	0.56562	0.561000	0.74099	GAG	PRDM16	-	NULL		0.642	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3319477	+1	no_errors	ENST00000270722	ensembl	human	known	70_37	missense	SNP	1.000	A
PRAMEF4	400735	genome.wustl.edu	37	1	12943014	12943014	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:12943014G>C	ENST00000235349.5	-	2	272	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	68					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGCCTCAGAGGGAGGCGG	0.597																																																	0													35.0	40.0	38.0					1																	12943014		2184	4268	6452	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.202C>G	1.37:g.12943014G>C	ENSP00000235349:p.Leu68Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5LJB5	Missense_Mutation	SNP	NULL	p.L68V	ENST00000235349.5	37	c.202	CCDS30592.1	1	.	.	.	.	.	.	.	.	.	.	g	10.55	1.380658	0.24944	.	.	ENSG00000243073	ENST00000235349	T	0.18174	2.23	1.48	0.471	0.16752	.	0.296062	0.28504	N	0.015119	T	0.23014	0.0556	L	0.41027	1.25	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.13176	-1.0519	10	0.21014	T	0.42	.	5.7377	0.18075	0.0:0.3378:0.6622:0.0	.	68	O60810	PRAM4_HUMAN	V	68	ENSP00000235349:L68V	ENSP00000235349:L68V	L	-	1	2	PRAMEF4	12865601	0.496000	0.26059	0.011000	0.14972	0.020000	0.10135	1.273000	0.33121	0.160000	0.19432	0.400000	0.26472	CTG	PRAMEF4	-	NULL		0.597	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	G	NM_001009611		12943014	-1	no_errors	ENST00000235349	ensembl	human	known	70_37	missense	SNP	0.014	C
PQLC2	54896	genome.wustl.edu	37	1	19651254	19651254	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:19651254C>A	ENST00000375153.3	+	3	932	c.292C>A	c.(292-294)Cag>Aag	p.Q98K	PQLC2_ENST00000375155.3_Missense_Mutation_p.Q98K|PQLC2_ENST00000400548.2_Missense_Mutation_p.Q33K	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	98	PQ-loop 1.				amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGCCCCTGCAGGTGGGCCG	0.652																																																	0													59.0	52.0	55.0					1																	19651254		2203	4300	6503	SO:0001583	missense	54896			BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.292C>A	1.37:g.19651254C>A	ENSP00000364295:p.Gln98Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,smart_CTNS	p.Q98K	ENST00000375153.3	37	c.292	CCDS195.2	1	.	.	.	.	.	.	.	.	.	.	C	33	5.229747	0.95173	.	.	ENSG00000040487	ENST00000375155;ENST00000375153;ENST00000400548;ENST00000432465	T;T	0.54866	0.55;0.55	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.79661	0.4484	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84520	0.0627	10	0.66056	D	0.02	-13.4965	17.6489	0.88157	0.0:1.0:0.0:0.0	.	98	Q6ZP29	PQLC2_HUMAN	K	98;98;33;3	ENSP00000364297:Q98K;ENSP00000364295:Q98K	ENSP00000364295:Q98K	Q	+	1	0	PQLC2	19523841	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.540000	0.82074	2.502000	0.84385	0.462000	0.41574	CAG	PQLC2	-	superfamily_MFS_dom_general_subst_transpt		0.652	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PQLC2	HGNC	protein_coding	OTTHUMT00000007255.1	C	NM_017765		19651254	+1	no_errors	ENST00000375153	ensembl	human	known	70_37	missense	SNP	1.000	A
PRDM4	11108	genome.wustl.edu	37	12	108150630	108150630	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:108150630G>C	ENST00000228437.5	-	3	583	c.124C>G	c.(124-126)Cac>Gac	p.H42D	PRDM4_ENST00000547268.1_5'UTR|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	42					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATGGCACTGTGAGTGGGTGAG	0.512																																																	0													76.0	61.0	66.0					12																	108150630		2203	4300	6503	SO:0001583	missense	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.124C>G	12.37:g.108150630G>C	ENSP00000228437:p.His42Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UFA6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM4,pfscan_SET_dom,pfscan_Znf_C2H2	p.H42D	ENST00000228437.5	37	c.124	CCDS9115.1	12	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827316	0.71143	.	.	ENSG00000110851	ENST00000228437;ENST00000547188	D	0.82803	-1.65	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	L	0.27053	0.805	0.80722	D	1	B	0.26635	0.155	B	0.28139	0.086	T	0.75007	-0.3469	10	0.87932	D	0	-10.1518	20.1346	0.98019	0.0:0.0:1.0:0.0	.	42	Q9UKN5	PRDM4_HUMAN	D	42	ENSP00000228437:H42D	ENSP00000228437:H42D	H	-	1	0	PRDM4	106674760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.765000	0.95021	0.655000	0.94253	CAC	PRDM4	-	pirsf_Znf_PRDM4		0.512	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM4	HGNC	protein_coding	OTTHUMT00000406546.1	G	NM_012406		108150630	-1	no_errors	ENST00000228437	ensembl	human	known	70_37	missense	SNP	1.000	C
PRDM9	56979	genome.wustl.edu	37	5	23510065	23510065	+	Missense_Mutation	SNP	G	G	A	rs375716818		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:23510065G>A	ENST00000296682.3	+	4	412	c.230G>A	c.(229-231)cGa>cAa	p.R77Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	77	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGTGTCACCGAAGGCAGGCC	0.468										HNSCC(3;0.000094)																																							0								G	GLN/ARG	2,3722		0,2,1860	79.0	75.0	76.0		230	0.5	0.5	5		76	0,8212		0,0,4106	no	missense	PRDM9	NM_020227.2	43	0,2,5966	AA,AG,GG		0.0,0.0537,0.0168	benign	77/895	23510065	2,11934	1862	4106	5968	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.230G>A	5.37:g.23510065G>A	ENSP00000296682:p.Arg77Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX22|Q27Q50	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R77Q	ENST00000296682.3	37	c.230	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	11.05	1.526064	0.27299	5.37E-4	0.0	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.00792	5.69;5.69	3.79	0.473	0.16763	Krueppel-associated box (2);Krueppel-associated box-related (1);	.	.	.	.	T	0.00580	0.0019	N	0.24115	0.695	0.09310	N	1	B	0.26845	0.161	B	0.12156	0.007	T	0.45160	-0.9280	9	0.14252	T	0.57	2.4103	5.9073	0.19008	0.4259:0.0:0.5741:0.0	.	77	Q9NQV7	PRDM9_HUMAN	Q	77	ENSP00000425471:R77Q;ENSP00000296682:R77Q	ENSP00000296682:R77Q	R	+	2	0	PRDM9	23545822	0.696000	0.27757	0.530000	0.27963	0.941000	0.58515	0.639000	0.24690	-0.005000	0.14395	0.609000	0.83330	CGA	PRDM9	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.468	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	HGNC	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23510065	+1	no_errors	ENST00000296682	ensembl	human	known	70_37	missense	SNP	0.293	A
PRDX1	5052	genome.wustl.edu	37	1	45977049	45977049	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:45977049G>C	ENST00000262746.1	-	6	891	c.552C>G	c.(550-552)atC>atG	p.I184M	PRDX1_ENST00000319248.8_Missense_Mutation_p.I184M|PRDX1_ENST00000372079.1_Missense_Mutation_p.I82M	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	184					cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					CATCAGGCTTGATGGTATCAC	0.488																																																	0													194.0	201.0	198.0					1																	45977049		2203	4300	6503	SO:0001583	missense	5052			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.552C>G	1.37:g.45977049G>C	ENSP00000262746:p.Ile184Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.I184M	ENST00000262746.1	37	c.552	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053157	0.75960	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079	T;T;T	0.45276	0.9;0.9;0.9	5.04	5.04	0.67666	Peroxiredoxin, C-terminal (1);Thioredoxin-like fold (1);	0.053538	0.64402	D	0.000001	T	0.44222	0.1283	L	0.31065	0.9	0.80722	D	1	B	0.29136	0.234	B	0.43052	0.406	T	0.32188	-0.9916	10	0.26408	T	0.33	-13.7884	18.4088	0.90543	0.0:0.0:1.0:0.0	.	184	Q06830	PRDX1_HUMAN	M	184;184;82	ENSP00000262746:I184M;ENSP00000361152:I184M;ENSP00000361150:I82M	ENSP00000262746:I184M	I	-	3	3	PRDX1	45749636	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.734000	0.84928	2.344000	0.79699	0.462000	0.41574	ATC	PRDX1	-	pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold		0.488	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	G	NM_181697		45977049	-1	no_errors	ENST00000262746	ensembl	human	known	70_37	missense	SNP	1.000	C
PRDX1	5052	genome.wustl.edu	37	1	45980297	45980297	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:45980297G>A	ENST00000262746.1	-	5	735	c.396C>T	c.(394-396)atC>atT	p.I132I	PRDX1_ENST00000483583.1_5'Flank|PRDX1_ENST00000319248.8_Silent_p.I132I|PRDX1_ENST00000372079.1_Silent_p.I30I	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	132	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					TATCATCAATGATAAAAAGGC	0.443																																																	0													97.0	97.0	97.0					1																	45980297		2203	4300	6503	SO:0001819	synonymous_variant	5052			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.396C>T	1.37:g.45980297G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Silent	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.I132	ENST00000262746.1	37	c.396	CCDS522.1	1																																																																																			PRDX1	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold		0.443	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	G	NM_181697		45980297	-1	no_errors	ENST00000262746	ensembl	human	known	70_37	silent	SNP	0.992	A
PREX1	57580	genome.wustl.edu	37	20	47256415	47256415	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:47256415C>T	ENST00000371941.3	-	30	3815	c.3793G>A	c.(3793-3795)Gag>Aag	p.E1265K	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.E1265K	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1265					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATTGTACACTCTTCTTTCTGT	0.552																																																	0													128.0	128.0	128.0					20																	47256415		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3793G>A	20.37:g.47256415C>T	ENSP00000361009:p.Glu1265Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E1265K	ENST00000371941.3	37	c.3793	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.643370	0.96704	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.37235	1.21;1.21	5.19	5.19	0.71726	.	0.116329	0.36200	U	0.002739	T	0.45597	0.1350	M	0.63843	1.955	0.49389	D	0.999785	P;P	0.41929	0.658;0.765	B;B	0.43783	0.358;0.431	T	0.50725	-0.8794	10	0.87932	D	0	.	19.1577	0.93518	0.0:1.0:0.0:0.0	.	1265;562	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	K	1265	ENSP00000361009:E1265K;ENSP00000379522:E1265K	ENSP00000361009:E1265K	E	-	1	0	PREX1	46689822	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.635000	0.67841	2.590000	0.87494	0.650000	0.86243	GAG	PREX1	-	NULL		0.552	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	C	NM_020820		47256415	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	T
PRICKLE3	4007	genome.wustl.edu	37	X	49034710	49034710	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:49034710C>G	ENST00000376317.3	-	6	773	c.679G>C	c.(679-681)Gac>Cac	p.D227H	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.D159H|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.D214H|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.D146H	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	227	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TAGATGAGGTCAACCAGCAGT	0.612																																																	0													71.0	47.0	55.0					X																	49034710		2201	4298	6499	SO:0001583	missense	4007			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.679G>C	X.37:g.49034710C>G	ENSP00000365494:p.Asp227His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D227H	ENST00000376317.3	37	c.679	CCDS14320.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.217272|4.217272	0.79352|0.79352	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000376317;ENST00000536904;ENST00000540849;ENST00000538114|ENST00000453382;ENST00000432913	D;D;D;D|.	0.87809|.	-2.3;-2.3;-2.3;-2.3|.	5.14|5.14	5.14|5.14	0.70334|0.70334	Zinc finger, LIM-type (4);|.	0.000000|.	0.40385|.	N|.	0.001114|.	T|.	0.76637|.	0.4015|.	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.999;0.993|.	T|.	0.78679|.	-0.2110|.	10|.	0.66056|.	D|.	0.02|.	0.053|0.053	14.9619|14.9619	0.71164|0.71164	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	227;189;146;227|.	B2RBS3;B7Z6S4;B7Z8F2;O43900|.	.;.;.;PRIC3_HUMAN|.	H|S	227;146;159;214|239;237	ENSP00000365494:D227H;ENSP00000441385:D146H;ENSP00000446051:D159H;ENSP00000441743:D214H|.	ENSP00000365494:D227H|.	D|X	-|-	1|2	0|2	PRICKLE3|PRICKLE3	48921654|48921654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	7.666000|7.666000	0.83877|0.83877	2.119000|2.119000	0.64992|0.64992	0.511000|0.511000	0.50034|0.50034	GAC|TGA	PRICKLE3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.612	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	C	NM_006150		49034710	-1	no_errors	ENST00000376317	ensembl	human	known	70_37	missense	SNP	1.000	G
PRIM1	5557	genome.wustl.edu	37	12	57127958	57127958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57127958G>A	ENST00000338193.6	-	12	1252	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	406					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TCTCCTTTTCGGGATTTATCC	0.308																																																	0													87.0	86.0	86.0					12																	57127958		1810	4070	5880	SO:0001587	stop_gained	5557			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.1216C>T	12.37:g.57127958G>A	ENSP00000350491:p.Arg406*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_DNA_primase_S,tigrfam_DNA_primase_ssu_euk/arc	p.R406*	ENST00000338193.6	37	c.1216	CCDS44926.1	12	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553122	0.45487	.	.	ENSG00000198056	ENST00000537418;ENST00000338193	.	.	.	5.4	3.39	0.38822	.	0.298810	0.31554	N	0.007453	.	.	.	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.7572	12.3965	0.55389	0.0:0.0:0.5857:0.4142	.	.	.	.	X	413;406	.	ENSP00000350491:R406X	R	-	1	2	PRIM1	55414225	0.585000	0.26774	0.926000	0.36857	0.223000	0.24884	0.790000	0.26900	1.359000	0.45940	0.585000	0.79938	CGA	PRIM1	-	NULL		0.308	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIM1	HGNC	protein_coding	OTTHUMT00000406956.1	G	NM_000946		57127958	-1	no_errors	ENST00000338193	ensembl	human	known	70_37	nonsense	SNP	0.494	A
PRKACG	5568	genome.wustl.edu	37	9	71628379	71628379	+	Silent	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:71628379G>T	ENST00000377276.2	-	1	660	c.630C>A	c.(628-630)atC>atA	p.I210I		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGCTCAGGATGATCTCGGGGG	0.632																																					Esophageal Squamous(110;2236 2623 32146)												0													59.0	58.0	58.0					9																	71628379		2203	4300	6503	SO:0001819	synonymous_variant	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.630C>A	9.37:g.71628379G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60850|Q5VZ02|Q86YI1	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,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I210	ENST00000377276.2	37	c.630	CCDS6625.1	9																																																																																			PRKACG	-	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		0.632	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	HGNC	protein_coding	OTTHUMT00000052559.1	G			71628379	-1	no_errors	ENST00000377276	ensembl	human	known	70_37	silent	SNP	1.000	T
PRKCDBP	112464	genome.wustl.edu	37	11	6340548	6340548	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:6340548G>C	ENST00000303927.3	-	2	801	c.631C>G	c.(631-633)Cgc>Ggc	p.R211G	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.R243G	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	211					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCCCAAGGCGAGGCGGCTTG	0.716																																																	0													26.0	34.0	31.0					11																	6340548		2191	4284	6475	SO:0001583	missense	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.631C>G	11.37:g.6340548G>C	ENSP00000307292:p.Arg211Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R211G	ENST00000303927.3	37	c.631	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314851	0.81358	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.67171	-0.25;-0.25	5.08	5.08	0.68730	.	0.092240	0.56097	D	0.000031	T	0.70237	0.3201	N	0.19112	0.55	0.37581	D	0.919812	D	0.89917	1.0	D	0.85130	0.997	T	0.77138	-0.2698	10	0.87932	D	0	-14.8175	13.9712	0.64242	0.0:0.0:1.0:0.0	.	211	Q969G5	PRDBP_HUMAN	G	211;243	ENSP00000307292:R211G;ENSP00000432047:R243G	ENSP00000307292:R211G	R	-	1	0	PRKCDBP	6297124	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.474000	0.60203	2.368000	0.80403	0.561000	0.74099	CGC	PRKCDBP	-	NULL		0.716	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	G	NM_145040		6340548	-1	no_errors	ENST00000303927	ensembl	human	known	70_37	missense	SNP	0.995	C
PRKG2	5593	genome.wustl.edu	37	4	82125986	82125986	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:82125986G>C	ENST00000395578.1	-	2	332	c.216C>G	c.(214-216)ctC>ctG	p.L72L	PRKG2_ENST00000418486.2_Silent_p.L72L|PRKG2_ENST00000264399.1_Silent_p.L72L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	72					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACTTGTTCTGGAGCTCCTCTG	0.562																																																	0													117.0	116.0	116.0					4																	82125986		2203	4300	6503	SO:0001819	synonymous_variant	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.216C>G	4.37:g.82125986G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMX3|E7EPE6|O00125|O60916	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.L72	ENST00000395578.1	37	c.216	CCDS3589.1	4																																																																																			PRKG2	-	pirsf_cGMP-dependent_protein_kinase		0.562	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	G	NM_006259		82125986	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	silent	SNP	0.506	C
PRKRIP1	79706	genome.wustl.edu	37	7	102066993	102066993	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:102066993G>C	ENST00000496391.1	+	0	3300				RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000397912.3_3'UTR|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						GCCCCTCTCTGAGCCCTGTAG	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	79706			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.*1435G>C	7.37:g.102066993G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-		0.463	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	G	NM_024653		102066993	+1	no_errors	ENST00000482465	ensembl	human	known	70_37	rna	SNP	0.920	C
PRNP	5621	genome.wustl.edu	37	20	4680258	4680258	+	Missense_Mutation	SNP	G	G	T	rs74315410		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:4680258G>T	ENST00000379440.4	+	2	679	c.392G>T	c.(391-393)gGa>gTa	p.G131V	PRNP_ENST00000430350.2_Missense_Mutation_p.G131V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TACATGCTGGGAAGTGCCATG	0.547																																																	0			GRCh37	CM014372	PRNP	M	rs74315410						78.0	60.0	66.0					20																	4680258		2203	4300	6503	SO:0001583	missense	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.392G>T	20.37:g.4680258G>T	ENSP00000368752:p.Gly131Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.G131V	ENST00000379440.4	37	c.392	CCDS13080.1	20	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804163	0.70682	.	.	ENSG00000171867	ENST00000379440;ENST00000430350;ENST00000424424;ENST00000444805;ENST00000457586	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-1.72	5.3	5.3	0.74995	Prion/Doppel protein, beta-ribbon domain (2);	0.000000	0.64402	D	0.000001	D	0.95943	0.8679	M	0.68952	2.095	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96671	0.9496	9	0.87932	D	0	-6.9584	14.4393	0.67303	0.0:0.0:1.0:0.0	.	131;131;163	B2NI04;P04156;O75942	.;PRIO_HUMAN;.	V	131;131;131;70;131	ENSP00000368752:G131V;ENSP00000399376:G131V;ENSP00000411599:G131V;ENSP00000415284:G131V	ENSP00000368752:G131V	G	+	2	0	PRNP	4628258	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.888000	0.69758	2.486000	0.83907	0.655000	0.94253	GGA	PRNP	-	superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion		0.547	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	G	NM_000311		4680258	+1	no_errors	ENST00000379440	ensembl	human	known	70_37	missense	SNP	1.000	T
PROS1	5627	genome.wustl.edu	37	3	93646133	93646133	+	Silent	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:93646133T>C	ENST00000394236.3	-	2	511	c.195A>G	c.(193-195)aaA>aaG	p.K65K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	65	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TGGCTTCTTCTTTATTGCACA	0.403																																																	0													116.0	112.0	114.0					3																	93646133		2203	4300	6503	SO:0001819	synonymous_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.195A>G	3.37:g.93646133T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.K65	ENST00000394236.3	37	c.195	CCDS2923.1	3																																																																																			PROS1	-	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain		0.403	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	T	NM_000313		93646133	-1	no_errors	ENST00000394236	ensembl	human	known	70_37	silent	SNP	1.000	C
PROX1	5629	genome.wustl.edu	37	1	214170276	214170276	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:214170276C>G	ENST00000366958.4	+	2	1006	c.398C>G	c.(397-399)tCa>tGa	p.S133*	PROX1_ENST00000261454.4_Nonsense_Mutation_p.S133*|PROX1_ENST00000498508.2_Nonsense_Mutation_p.S133*|PROX1_ENST00000435016.1_Nonsense_Mutation_p.S133*	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	133					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S133L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGCAACTCTTCAAGAGACAGC	0.507																																																	1	Substitution - Missense(1)	lung(1)											87.0	94.0	92.0					1																	214170276		2203	4300	6503	SO:0001587	stop_gained	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.398C>G	1.37:g.214170276C>G	ENSP00000355925:p.Ser133*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK29|A8K2B1|Q5SW76|Q8TB91	Nonsense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.S133*	ENST00000366958.4	37	c.398	CCDS31021.1	1	.	.	.	.	.	.	.	.	.	.	C	43	10.459572	0.99409	.	.	ENSG00000117707	ENST00000471129;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-2.0273	19.922	0.97089	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000261454:S133X	S	+	2	0	PROX1	212236899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.780000	0.95670	0.655000	0.94253	TCA	PROX1	-	pfam_Prox1		0.507	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PROX1	HGNC	protein_coding	OTTHUMT00000089727.6	C	NM_002763		214170276	+1	no_errors	ENST00000261454	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PRPH2	5961	genome.wustl.edu	37	6	42672348	42672348	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42672348G>C	ENST00000230381.5	-	2	822	c.583C>G	c.(583-585)Cga>Gga	p.R195G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	195			R -> L (in CACD2; dbSNP:rs121918567). {ECO:0000269|PubMed:16832026}.		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTCTTGATTCGACTTAAAGGG	0.567																																																	0													93.0	84.0	87.0					6																	42672348		2203	4300	6503	SO:0001630	splice_region_variant	5961				CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.582-1C>G	6.37:g.42672348G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.R195G	ENST00000230381.5	37	c.583	CCDS4871.1	6	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960095	0.92791	.	.	ENSG00000112619	ENST00000230381	T	0.03745	3.82	5.1	5.1	0.69264	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.01273	-1.1399	10	0.87932	D	0	.	18.5136	0.90926	0.0:0.0:1.0:0.0	.	195	P23942	PRPH2_HUMAN	G	195	ENSP00000230381:R195G	ENSP00000230381:R195G	R	-	1	2	PRPH2	42780326	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	9.799000	0.99117	2.383000	0.81215	0.655000	0.94253	CGA	PRPH2	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.567	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH2	HGNC	protein_coding	OTTHUMT00000040556.1	G	NM_000322	Missense_Mutation	42672348	-1	no_errors	ENST00000230381	ensembl	human	known	70_37	missense	SNP	1.000	C
PRR11	55771	genome.wustl.edu	37	17	57270858	57270858	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:57270858C>T	ENST00000262293.4	+	5	720	c.408C>T	c.(406-408)atC>atT	p.I136I		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	136						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCAGACCATCTCAGAAAGTT	0.408																																																	0													123.0	108.0	113.0					17																	57270858		2203	4300	6503	SO:0001819	synonymous_variant	55771				CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.408C>T	17.37:g.57270858C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NUZ7|Q9NXE9	Silent	SNP	NULL	p.I136	ENST00000262293.4	37	c.408	CCDS11614.1	17																																																																																			PRR11	-	NULL		0.408	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR11	HGNC	protein_coding	OTTHUMT00000445949.1	C	NM_018304		57270858	+1	no_errors	ENST00000262293	ensembl	human	known	70_37	silent	SNP	0.700	T
PRR19	284338	genome.wustl.edu	37	19	42814499	42814499	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:42814499G>C	ENST00000499536.2	+	2	1489	c.678G>C	c.(676-678)gaG>gaC	p.E226D	PRR19_ENST00000341747.3_Missense_Mutation_p.E226D|TMEM145_ENST00000301204.3_5'Flank|PRR19_ENST00000598490.1_3'UTR			A6NJB7	PRR19_HUMAN	proline rich 19	226										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CAGAGCAGGAGAGGCAAAGGA	0.567																																																	0													108.0	99.0	102.0					19																	42814499		2203	4300	6503	SO:0001583	missense	284338			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.678G>C	19.37:g.42814499G>C	ENSP00000445247:p.Glu226Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	NULL	p.E226D	ENST00000499536.2	37	c.678	CCDS33036.1	19	.	.	.	.	.	.	.	.	.	.	G	0.203	-1.043070	0.01997	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	3.62	2.57	0.30868	.	0.526148	0.14248	U	0.331616	T	0.17323	0.0416	N	0.14661	0.345	0.09310	N	0.999997	B	0.27732	0.187	B	0.24155	0.051	T	0.21484	-1.0244	9	0.12430	T	0.62	-0.0878	6.9566	0.24574	0.1259:0.0:0.8741:0.0	.	226	A6NJB7	PRR19_HUMAN	D	226	.	ENSP00000342709:E226D	E	+	3	2	PRR19	47506339	0.773000	0.28580	0.559000	0.28332	0.021000	0.10359	0.187000	0.16998	1.082000	0.41137	0.563000	0.77884	GAG	PRR19	-	NULL		0.567	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR19	HGNC	protein_coding	OTTHUMT00000463735.1	G	NM_199285		42814499	+1	no_errors	ENST00000341747	ensembl	human	known	70_37	missense	SNP	0.595	C
PRRC2C	23215	genome.wustl.edu	37	1	171509776	171509776	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:171509776G>C	ENST00000338920.4	+	16	3402	c.3165G>C	c.(3163-3165)aaG>aaC	p.K1055N	PRRC2C_ENST00000426496.2_Missense_Mutation_p.K1055N|PRRC2C_ENST00000367742.3_Missense_Mutation_p.K1057N|PRRC2C_ENST00000392078.3_Missense_Mutation_p.K1057N	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1055					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGACGGAAAAGAAGGATCTTC	0.473																																																	0													112.0	116.0	115.0					1																	171509776		2203	4300	6503	SO:0001583	missense	23215			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3165G>C	1.37:g.171509776G>C	ENSP00000343629:p.Lys1055Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.K1057N	ENST00000338920.4	37	c.3171	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	2.825	-0.243862	0.05906	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080	T;T;T;T	0.02498	4.27;4.27;4.27;4.27	5.9	3.04	0.35103	.	0.000000	0.49305	D	0.000156	T	0.02929	0.0087	L	0.32530	0.975	0.43287	D	0.995266	D	0.71674	0.998	D	0.66351	0.943	T	0.54576	-0.8273	10	0.46703	T	0.11	.	8.9534	0.35803	0.3466:0.0:0.6534:0.0	.	1055	Q9Y520-4	.	N	1057;1056;1055;1057;1055;812	ENSP00000375928:K1057N;ENSP00000410219:K1055N;ENSP00000356716:K1057N;ENSP00000343629:K1055N	ENSP00000343629:K1055N	K	+	3	2	PRRC2C	169776400	1.000000	0.71417	0.998000	0.56505	0.512000	0.34134	5.083000	0.64456	0.404000	0.25506	-0.157000	0.13467	AAG	PRRC2C	-	NULL		0.473	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	G	NM_015172		171509776	+1	no_errors	ENST00000392078	ensembl	human	known	70_37	missense	SNP	1.000	C
PRRT2	112476	genome.wustl.edu	37	16	29825094	29825094	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:29825094G>A	ENST00000358758.7	+	2	1002	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Missense_Mutation_p.R240Q|PAGR1_ENST00000320330.6_5'Flank|PRRT2_ENST00000300797.6_Missense_Mutation_p.R240Q|PRRT2_ENST00000567551.1_3'UTR|AC009133.20_ENST00000569039.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	240					neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GGATCTCCCCGAGGTAGCCTG	0.642																																																	0													29.0	30.0	30.0					16																	29825094		2197	4300	6497	SO:0001583	missense	112476			BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.719G>A	16.37:g.29825094G>A	ENSP00000351608:p.Arg240Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Missense_Mutation	SNP	pfam_Interferon-induced_TM_protein	p.R240Q	ENST00000358758.7	37	c.719	CCDS10654.1	16	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244874	0.59103	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70869	-0.52;0.2	3.9	3.9	0.45041	.	0.330305	0.28901	N	0.013777	T	0.72867	0.3514	N	0.24115	0.695	0.31379	N	0.679214	D;P;P	0.89917	1.0;0.901;0.94	D;B;P	0.78314	0.991;0.277;0.468	T	0.73681	-0.3906	10	0.41790	T	0.15	-5.5191	13.7948	0.63164	0.0:0.0:1.0:0.0	.	240;240;240	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	Q	240	ENSP00000351608:R240Q;ENSP00000300797:R240Q	ENSP00000300797:R240Q	R	+	2	0	PRRT2	29732595	0.987000	0.35691	1.000000	0.80357	0.989000	0.77384	0.678000	0.25277	2.190000	0.69967	0.563000	0.77884	CGA	PRRT2	-	NULL		0.642	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT2	HGNC	protein_coding	OTTHUMT00000255161.3	G	NM_145239		29825094	+1	no_errors	ENST00000567659	ensembl	human	known	70_37	missense	SNP	1.000	A
PRUNE	58497	genome.wustl.edu	37	1	151001297	151001297	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:151001297C>G	ENST00000271620.3	+	7	966	c.810C>G	c.(808-810)ctC>ctG	p.L270L	PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368936.1_Silent_p.L88L|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368934.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	270						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGCAGATCTCCATGCTTTCT	0.473																																																	0													174.0	149.0	157.0					1																	151001297		2203	4300	6503	SO:0001819	synonymous_variant	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.810C>G	1.37:g.151001297C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Silent	SNP	pfam_DHHA2,pfam_Pesterase_RecJ	p.L270	ENST00000271620.3	37	c.810	CCDS977.1	1																																																																																			PRUNE	-	pfam_DHHA2		0.473	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	HGNC	protein_coding	OTTHUMT00000084885.1	C	NM_021222		151001297	+1	no_errors	ENST00000271620	ensembl	human	known	70_37	silent	SNP	0.091	G
PSD	5662	genome.wustl.edu	37	10	104170845	104170845	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:104170845G>A	ENST00000020673.5	-	9	2497	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L	PSD_ENST00000406432.1_Silent_p.L657L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	657	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGAGCAGCATGAGCGCACAGG	0.647																																																	0													84.0	84.0	84.0					10																	104170845		2203	4300	6503	SO:0001819	synonymous_variant	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1971C>T	10.37:g.104170845G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.L657	ENST00000020673.5	37	c.1971	CCDS31272.1	10																																																																																			PSD	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.647	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104170845	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	silent	SNP	1.000	A
PSG8	440533	genome.wustl.edu	37	19	43348637	43348637	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:43348637G>C	ENST00000401467.2	-	1	136				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)		p.Q373*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TCTGATTGCTGAAACTTCCCA	0.443																																																	1	Substitution - Nonsense(1)	lung(1)																																								SO:0001627	intron_variant	653492			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.64+11070C>G	19.37:g.43348637G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	-	NULL	ENST00000401467.2	37	NULL		19																																																																																			PSG10P	-	-		0.443	PSG8-009	PUTATIVE	basic	protein_coding	PSG10P	HGNC	protein_coding	OTTHUMT00000464525.1	G			43348637	-1	no_errors	ENST00000597171	ensembl	human	known	70_37	rna	SNP	0.001	C
PSG7	5676	genome.wustl.edu	37	19	43440462	43440462	+	RNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:43440462C>T	ENST00000406070.2	-	0	161				PSG7_ENST00000471557.1_RNA|PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				caccccagtgcctggaacagG	0.512																																																	0																																												5676					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43440462C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15232	RNA	SNP	-	NULL	ENST00000406070.2	37	NULL		19																																																																																			PSG7	-	-		0.512	PSG7-001	KNOWN	basic	polymorphic_pseudogene	PSG7	HGNC	polymorphic_pseudogene	OTTHUMT00000321431.2	C	NM_001206650		43440462	-1	no_errors	ENST00000471557	ensembl	human	known	70_37	rna	SNP	0.014	T
PSMD5	5711	genome.wustl.edu	37	9	123605112	123605112	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:123605112G>A	ENST00000210313.3	-	1	150	c.76C>T	c.(76-78)Cac>Tac	p.H26Y	PSMD5-AS1_ENST00000447891.1_RNA|PSMD5-AS1_ENST00000586907.1_RNA|PSMD5_ENST00000373904.5_Missense_Mutation_p.H26Y|PSMD5-AS1_ENST00000589026.1_RNA|PSMD5-AS1_ENST00000609388.1_RNA|PSMD5-AS1_ENST00000588973.1_RNA|PSMD5-AS1_ENST00000432640.1_RNA|PSMD5-AS1_ENST00000442982.1_RNA|PSMD5-AS1_ENST00000608862.1_RNA	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	26					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein folding (GO:0006457)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						AGCACGGAGTGAAGCGCGCGT	0.677																																																	0													14.0	15.0	15.0					9																	123605112		2201	4294	6495	SO:0001583	missense	5711			AK001065	CCDS6824.1, CCDS59143.1	9q34.11	2008-02-05			ENSG00000095261	ENSG00000095261		"""Proteasome (prosome, macropain) subunits"""	9563	protein-coding gene	gene with protein product		604452				7559544	Standard	NM_005047		Approved	S5B, KIAA0072	uc004bko.4	Q16401	OTTHUMG00000020573	ENST00000210313.3:c.76C>T	9.37:g.123605112G>A	ENSP00000210313:p.His26Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZM8|Q15045|Q4VXG8	Missense_Mutation	SNP	pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold	p.H26Y	ENST00000210313.3	37	c.76	CCDS6824.1	9	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503111	0.44558	.	.	ENSG00000095261	ENST00000210313;ENST00000373904	T;T	0.32272	1.46;1.56	5.22	5.22	0.72569	.	0.467481	0.25081	N	0.033300	T	0.19287	0.0463	N	0.08118	0	0.09310	N	0.999997	B;B	0.22146	0.044;0.065	B;B	0.29663	0.096;0.105	T	0.21042	-1.0257	10	0.59425	D	0.04	.	12.5916	0.56445	0.0:0.0:0.8342:0.1658	.	26;26	B4DZM8;Q16401	.;PSMD5_HUMAN	Y	26	ENSP00000210313:H26Y;ENSP00000363011:H26Y	ENSP00000210313:H26Y	H	-	1	0	PSMD5	122644933	0.621000	0.27077	0.907000	0.35723	0.359000	0.29487	2.296000	0.43584	2.725000	0.93324	0.655000	0.94253	CAC	PSMD5	-	pfam_26S_Psome_nonATP_su5		0.677	PSMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD5	HGNC	protein_coding	OTTHUMT00000053825.2	G	NM_005047		123605112	-1	no_errors	ENST00000210313	ensembl	human	known	70_37	missense	SNP	0.575	A
PSMD9	5715	genome.wustl.edu	37	12	122340930	122340930	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:122340930G>A	ENST00000541212.1	+	4	598	c.472G>A	c.(472-474)Gag>Aag	p.E158K	PSMD9_ENST00000340175.5_Missense_Mutation_p.E158K|RP11-87C12.2_ENST00000546333.1_3'UTR|PSMD9_ENST00000542602.1_Missense_Mutation_p.E53K|PSMD9_ENST00000261817.2_Missense_Mutation_p.E158K			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	158	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion (GO:0046676)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome regulatory particle assembly (GO:0070682)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome regulatory particle (GO:0005838)	bHLH transcription factor binding (GO:0043425)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGTGGATGATGAGATTGTGGA	0.507																																																	0													160.0	125.0	137.0					12																	122340930		2203	4300	6503	SO:0001583	missense	5715			AB003177	CCDS9225.1, CCDS58284.1	12q24.31-q24.32	2008-05-22			ENSG00000110801	ENSG00000110801		"""Proteasome (prosome, macropain) subunits"""	9567	protein-coding gene	gene with protein product		603146				9653651	Standard	NM_002813		Approved	p27, Rpn4	uc001ubl.4	O00233	OTTHUMG00000168945	ENST00000541212.1:c.472G>A	12.37:g.122340930G>A	ENSP00000440485:p.Glu158Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD35|G3V1Q6|Q9BQ42	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ	p.E158K	ENST00000541212.1	37	c.472	CCDS9225.1	12	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809934	0.50421	.	.	ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000110801;ENSG00000256950	ENST00000541212;ENST00000340175;ENST00000261817;ENST00000544724;ENST00000542602	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.6	3.78	0.43462	PDZ/DHR/GLGF (2);	0.049615	0.85682	D	0.000000	T	0.17831	0.0428	L	0.37630	1.12	0.58432	D	0.999993	B;P	0.49635	0.39;0.926	B;P	0.47891	0.234;0.56	T	0.01930	-1.1245	10	0.24483	T	0.36	-27.3709	12.1377	0.53981	0.1384:0.0:0.8615:0.0	.	158;158	F8W7V8;O00233	.;PSMD9_HUMAN	K	158;158;158;69;53	ENSP00000440485:E158K;ENSP00000340847:E158K;ENSP00000261817:E158K;ENSP00000443929:E69K;ENSP00000443772:E53K	ENSP00000261817:E158K	E	+	1	0	RP11-87C12.2;PSMD9	120825313	1.000000	0.71417	0.631000	0.29282	0.937000	0.57800	5.124000	0.64709	0.734000	0.32515	0.655000	0.94253	GAG	PSMD9	-	pfam_PDZ,superfamily_PDZ,smart_PDZ		0.507	PSMD9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMD9	HGNC	protein_coding	OTTHUMT00000401686.1	G	NM_002813		122340930	+1	no_errors	ENST00000541212	ensembl	human	known	70_37	missense	SNP	1.000	A
PSPC1	55269	genome.wustl.edu	37	13	20356657	20356657	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:20356657G>A	ENST00000338910.4	-	1	400	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	81					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AGGCGGCAGCGCTGCGTGTAC	0.612																																																	0													62.0	67.0	66.0					13																	20356657		2004	4189	6193	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.241C>T	13.37:g.20356657G>A	ENSP00000343966:p.Arg81Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.R81C	ENST00000338910.4	37	c.241	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258999	0.59321	.	.	ENSG00000121390	ENST00000338910;ENST00000422828;ENST00000427943	T;T	0.06068	3.35;3.35	5.28	5.28	0.74379	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.08980	0.0222	L	0.49350	1.555	0.80722	D	1	P	0.41475	0.751	B	0.34722	0.188	T	0.04976	-1.0914	10	0.87932	D	0	-6.9822	19.1107	0.93315	0.0:0.0:1.0:0.0	.	81	Q8WXF1	PSPC1_HUMAN	C	81;21;81	ENSP00000343966:R81C;ENSP00000393069:R81C	ENSP00000343966:R81C	R	-	1	0	PSPC1	19254657	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	5.285000	0.65633	2.753000	0.94483	0.467000	0.42956	CGC	PSPC1	-	NULL		0.612	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	G			20356657	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	A
PTBP1	5725	genome.wustl.edu	37	19	810808	810808	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:810808C>G	ENST00000349038.4	+	14	1651	c.1578C>G	c.(1576-1578)ttC>ttG	p.F526L	PTBP1_ENST00000356948.6_Missense_Mutation_p.F552L|PTBP1_ENST00000350092.4_Missense_Mutation_p.F192L|PTBP1_ENST00000394601.4_Missense_Mutation_p.F545L|MIR3187_ENST00000583431.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	526	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGGTCTCCTTCTCCAAGTCCA	0.607																																																	0													56.0	63.0	61.0					19																	810808		2203	4300	6503	SO:0001583	missense	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1578C>G	19.37:g.810808C>G	ENSP00000014112:p.Phe526Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.F552L	ENST00000349038.4	37	c.1656	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704869	0.88924	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.74421	-0.84;-0.84;-0.41;0.04	5.38	3.24	0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	D	0.86732	0.6003	M	0.91249	3.19	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.992;1.0	D;D;D;D	0.97110	0.999;0.997;0.971;1.0	D	0.86073	0.1539	10	0.87932	D	0	-40.6151	8.0659	0.30661	0.0:0.749:0.0:0.251	.	192;526;545;552	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	L	552;545;526;192	ENSP00000349428:F552L;ENSP00000408096:F545L;ENSP00000014112:F526L;ENSP00000342332:F192L	ENSP00000014112:F526L	F	+	3	2	PTBP1	761808	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	3.168000	0.50801	0.616000	0.30141	0.655000	0.94253	TTC	PTBP1	-	pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.607	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	C			810808	+1	no_errors	ENST00000356948	ensembl	human	known	70_37	missense	SNP	1.000	G
PTGDR	5729	genome.wustl.edu	37	14	52734613	52734613	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:52734613C>T	ENST00000306051.2	+	1	183	c.81C>T	c.(79-81)ttC>ttT	p.F27F	PTGDR_ENST00000553372.1_Silent_p.F27F	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	27					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGGTGCTCTTCAGCACCGGCC	0.701																																																	0													22.0	23.0	23.0					14																	52734613		2203	4299	6502	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.81C>T	14.37:g.52734613C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.F27	ENST00000306051.2	37	c.81	CCDS9707.1	14																																																																																			PTGDR	-	NULL		0.701	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	C	NM_000953		52734613	+1	no_errors	ENST00000306051	ensembl	human	known	70_37	silent	SNP	1.000	T
PTGER2	5732	genome.wustl.edu	37	14	52781855	52781855	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:52781855C>T	ENST00000245457.5	+	1	743	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	197					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GACCGCTTACCTGCAGCTGTA	0.627																																																	0													65.0	55.0	58.0					14																	52781855		2203	4300	6503	SO:0001819	synonymous_variant	5732				CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.589C>T	14.37:g.52781855C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSC0|Q52LG8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn	p.L197	ENST00000245457.5	37	c.589	CCDS9708.1	14																																																																																			PTGER2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.627	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER2	HGNC	protein_coding	OTTHUMT00000276890.1	C			52781855	+1	no_errors	ENST00000245457	ensembl	human	known	70_37	silent	SNP	0.984	T
PTGER4	5734	genome.wustl.edu	37	5	40681722	40681722	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:40681722G>A	ENST00000302472.3	+	2	1651	c.627G>A	c.(625-627)gcG>gcA	p.A209A	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	209					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TGTGCGGCGCGCTGCTCCGCA	0.706																																																	0													21.0	18.0	19.0					5																	40681722		2200	4294	6494	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.627G>A	5.37:g.40681722G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.A209	ENST00000302472.3	37	c.627	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt		0.706	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	G	NM_000958		40681722	+1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	0.995	A
PTGER4	5734	genome.wustl.edu	37	5	40681917	40681917	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:40681917C>T	ENST00000302472.3	+	2	1846	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	274					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	TCATCTTACTCATTGCCACCT	0.677																																																	0													32.0	35.0	34.0					5																	40681917		2125	4060	6185	SO:0001819	synonymous_variant	5734			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.822C>T	5.37:g.40681917C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ87	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.L274	ENST00000302472.3	37	c.822	CCDS3930.1	5																																																																																			PTGER4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt		0.677	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	C	NM_000958		40681917	+1	no_errors	ENST00000302472	ensembl	human	known	70_37	silent	SNP	1.000	T
PTGES3	10728	genome.wustl.edu	37	12	57057307	57057307	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:57057307C>T	ENST00000262033.6	-	0	1739				PTGES3_ENST00000537473.1_5'UTR	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)						arachidonic acid metabolic process (GO:0019369)|cell proliferation (GO:0008283)|chaperone cofactor-dependent protein refolding (GO:0070389)|cyclooxygenase pathway (GO:0019371)|glucocorticoid receptor signaling pathway (GO:0042921)|glycogen biosynthetic process (GO:0005978)|lung saccule development (GO:0060430)|prostaglandin biosynthetic process (GO:0001516)|RNA-dependent DNA replication (GO:0006278)|signal transduction (GO:0007165)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	prostaglandin-E synthase activity (GO:0050220)|telomerase activity (GO:0003720)|unfolded protein binding (GO:0051082)			large_intestine(1)|lung(1)	2						AATTCTTCCTCAAATAAACTC	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	10728			BC003005	CCDS31836.1, CCDS61158.1, CCDS61159.1, CCDS61160.1, CCDS73485.1	12q13.13	2012-03-14			ENSG00000110958	ENSG00000110958			16049	protein-coding gene	gene with protein product		607061				8114727, 12077419	Standard	XR_245889		Approved	p23, TEBP, cPGES	uc001slu.4	Q15185	OTTHUMG00000170217	ENST00000262033.6:c.*956G>A	12.37:g.57057307C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7D0|B4DHP2|B4DP11|B4DP21|Q8WU70	RNA	SNP	-	NULL	ENST00000262033.6	37	NULL	CCDS31836.1	12																																																																																			PTGES3	-	-		0.338	PTGES3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES3	HGNC	protein_coding	OTTHUMT00000408054.1	C	NM_006601		57057307	-1	no_errors	ENST00000537473	ensembl	human	known	70_37	rna	SNP	1.000	T
PTH1R	5745	genome.wustl.edu	37	3	46940273	46940273	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:46940273G>C	ENST00000313049.5	+	7	963	c.760G>C	c.(760-762)Gag>Cag	p.E254Q	PTH1R_ENST00000430002.2_Missense_Mutation_p.E254Q|PTH1R_ENST00000449590.1_Missense_Mutation_p.E254Q|PTH1R_ENST00000418619.1_Missense_Mutation_p.E254Q			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	254					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|bone mineralization (GO:0030282)|bone resorption (GO:0045453)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|osteoblast development (GO:0002076)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|skeletal system development (GO:0001501)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	parathyroid hormone receptor activity (GO:0004991)|peptide hormone binding (GO:0017046)|protein self-association (GO:0043621)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19					Preotact(DB05829)|Teriparatide(DB06285)	TGATGAGGCTGAGCGCCTCAC	0.682																																																	0													33.0	27.0	29.0					3																	46940273		2203	4300	6503	SO:0001583	missense	5745				CCDS2747.1	3p22-p21.1	2012-08-10	2008-11-18	2008-11-18	ENSG00000160801	ENSG00000160801		"""GPCR / Class B : Parathyroid hormone receptors"""	9608	protein-coding gene	gene with protein product		168468	"""parathyroid hormone receptor 1"""	PTHR, PTHR1		8020952	Standard	NM_001184744		Approved		uc021wxg.1	Q03431	OTTHUMG00000133515	ENST00000313049.5:c.760G>C	3.37:g.46940273G>C	ENSP00000321999:p.Glu254Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1U3	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt	p.E254Q	ENST00000313049.5	37	c.760	CCDS2747.1	3	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225833	0.58668	.	.	ENSG00000160801	ENST00000449590;ENST00000418619;ENST00000427125;ENST00000430002;ENST00000313049;ENST00000313063	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.71	4.71	0.59529	GPCR, family 2-like (1);	.	.	.	.	T	0.36358	0.0964	L	0.31845	0.965	0.58432	D	0.999998	B	0.19817	0.039	B	0.29267	0.1	T	0.12604	-1.0541	9	0.23302	T	0.38	.	16.6272	0.84974	0.0:0.0:1.0:0.0	.	254	Q03431	PTH1R_HUMAN	Q	254;254;254;254;254;452	ENSP00000402723:E254Q;ENSP00000411424:E254Q;ENSP00000400977:E254Q;ENSP00000413774:E254Q;ENSP00000321999:E254Q	ENSP00000321999:E254Q	E	+	1	0	PTH1R	46915277	1.000000	0.71417	0.961000	0.40146	0.959000	0.62525	7.726000	0.84824	2.151000	0.67156	0.561000	0.74099	GAG	PTH1R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_parathyroid_rcpt		0.682	PTH1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH1R	HGNC	protein_coding	OTTHUMT00000257481.1	G	NM_000316		46940273	+1	no_errors	ENST00000313049	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPN12	5782	genome.wustl.edu	37	7	77256266	77256266	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:77256266G>A	ENST00000248594.6	+	13	1542	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	PTPN12_ENST00000415482.2_Missense_Mutation_p.E305K|PTPN12_ENST00000435495.2_Missense_Mutation_p.E294K	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	424	Interaction with TGFB1I1. {ECO:0000250}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCAACAATTGAACAGATAGA	0.358																																																	0													40.0	43.0	42.0					7																	77256266		2203	4300	6503	SO:0001583	missense	5782				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1270G>A	7.37:g.77256266G>A	ENSP00000248594:p.Glu424Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E424K	ENST00000248594.6	37	c.1270	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456497	0.84317	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.08634	3.67;3.07;3.07	6.17	6.17	0.99709	.	0.224065	0.46442	D	0.000288	T	0.16727	0.0402	M	0.69823	2.125	0.50039	D	0.999845	B	0.30634	0.288	B	0.34489	0.184	T	0.00548	-1.1677	10	0.51188	T	0.08	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	424	Q05209	PTN12_HUMAN	K	424;305;305;294	ENSP00000248594:E424K;ENSP00000392429:E305K;ENSP00000397991:E294K	ENSP00000248594:E424K	E	+	1	0	PTPN12	77094202	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	6.717000	0.74707	2.941000	0.99782	0.655000	0.94253	GAA	PTPN12	-	pirsf_Tyr_Pase_non-rcpt_typ-12		0.358	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	G			77256266	+1	no_errors	ENST00000248594	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPN23	25930	genome.wustl.edu	37	3	47451199	47451199	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:47451199G>A	ENST00000265562.4	+	19	2081	c.2004G>A	c.(2002-2004)ctG>ctA	p.L668L	PTPN23_ENST00000431726.1_Silent_p.L542L	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	668					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGAGGACCTGATGAAGAAGT	0.637																																																	0													40.0	42.0	41.0					3																	47451199		2203	4300	6503	SO:0001819	synonymous_variant	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2004G>A	3.37:g.47451199G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.L668	ENST00000265562.4	37	c.2004	CCDS2754.1	3																																																																																			PTPN23	-	NULL		0.637	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	G	NM_015466		47451199	+1	no_errors	ENST00000265562	ensembl	human	known	70_37	silent	SNP	1.000	A
PTPRK	5796	genome.wustl.edu	37	6	128840283	128840283	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:128840283G>C	ENST00000368215.3	-	1	100				PTPRK_ENST00000368207.3_Intron|PTPRK_ENST00000368210.3_Intron|PTPRK_ENST00000368226.4_Intron|PTPRK_ENST00000525459.1_Intron|PTPRK_ENST00000368227.3_Intron|PTPRK_ENST00000368213.5_Intron|PTPRK_ENST00000524481.1_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)		CCAGCCAAGCGAAGCTGGGTA	0.622											OREG0017654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16.0	15.0	15.0					6																	128840283		876	1991	2867	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.100+1120C>G	6.37:g.128840283G>C		Somatic	1567	WXS	Illumina HiSeq	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	RNA	SNP	-	NULL	ENST00000368215.3	37	NULL		6																																																																																			PTPRK	-	-		0.622	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	G			128840283	-1	no_errors	ENST00000368202	ensembl	human	known	70_37	rna	SNP	0.000	C
PTPRM	5797	genome.wustl.edu	37	18	8370921	8370921	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:8370921G>C	ENST00000332175.8	+	22	4086	c.3049G>C	c.(3049-3051)Gag>Cag	p.E1017Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.E1030Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.E955Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E804Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1031Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1017	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGATGACACAGAGATATATAA	0.348																																																	0													91.0	93.0	92.0					18																	8370921		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3049G>C	18.37:g.8370921G>C	ENSP00000331418:p.Glu1017Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E1031Q	ENST00000332175.8	37	c.3091	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021172	0.93462	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.66	5.66	0.87406	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.33753	1.03	0.80722	D	1	D;D;D	0.76494	0.999;0.977;0.976	D;P;D	0.76071	0.987;0.631;0.954	T	0.42515	-0.9447	10	0.66056	D	0.02	.	20.1076	0.97898	0.0:0.0:1.0:0.0	.	804;1030;1017	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	1017;1031;955;804	ENSP00000331418:E1017Q;ENSP00000382933:E1031Q;ENSP00000382927:E955Q;ENSP00000387608:E804Q	ENSP00000331418:E1017Q	E	+	1	0	PTPRM	8360921	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.779000	0.99018	2.823000	0.97156	0.650000	0.86243	GAG	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.348	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8370921	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPRM	5797	genome.wustl.edu	37	18	8379198	8379198	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:8379198G>C	ENST00000332175.8	+	26	4644	c.3607G>C	c.(3607-3609)Gag>Cag	p.E1203Q	PTPRM_ENST00000580170.1_Missense_Mutation_p.E1216Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1141Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E990Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1217Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1203	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTGCGAGTAGAGGACTGCAG	0.562																																																	0													114.0	92.0	99.0					18																	8379198		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3607G>C	18.37:g.8379198G>C	ENSP00000331418:p.Glu1203Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.E1217Q	ENST00000332175.8	37	c.3649	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	35	5.491663	0.96339	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.000000	0.85682	D	0.000000	T	0.35537	0.0935	L	0.52206	1.635	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.76071	0.987;0.986;0.986	T	0.00149	-1.1987	10	0.49607	T	0.09	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	990;1216;1203	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Q	1203;1217;1141;990	ENSP00000331418:E1203Q;ENSP00000382933:E1217Q;ENSP00000382927:E1141Q;ENSP00000387608:E990Q	ENSP00000331418:E1203Q	E	+	1	0	PTPRM	8369198	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GAG	PTPRM	-	smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.562	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8379198	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	C
PVRL3	25945	genome.wustl.edu	37	3	110912071	110912071	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:110912071G>A	ENST00000493615.1	+	9	1561	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_001243288.1	NP_001230217.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	0					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CAGGAGTTTTGACTATGAAGA	0.413																																																	0																																										SO:0001583	missense	25945			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000493615.1:c.1309G>A	3.37:g.110912071G>A	ENSP00000420579:p.Asp437Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.D437N	ENST00000493615.1	37	c.1309	CCDS58843.1	3	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589752	0.66105	.	.	ENSG00000177707	ENST00000493615	T	0.16743	2.32	5.53	5.53	0.82687	.	.	.	.	.	T	0.10594	0.0259	.	.	.	0.27480	N	0.952593	B	0.23058	0.079	B	0.26614	0.071	T	0.14309	-1.0477	8	0.07813	T	0.8	.	14.8344	0.70172	0.0:0.0:1.0:0.0	.	437	E9PFR0	.	N	437	ENSP00000420579:D437N	ENSP00000420579:D437N	D	+	1	0	PVRL3	112394761	0.989000	0.36119	0.969000	0.41365	0.989000	0.77384	2.593000	0.46180	2.882000	0.98803	0.655000	0.94253	GAC	PVRL3	-	NULL		0.413	PVRL3-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354046.1	G	NM_015480		110912071	+1	no_errors	ENST00000493615	ensembl	human	putative	70_37	missense	SNP	0.985	A
PXDNL	137902	genome.wustl.edu	37	8	52325734	52325734	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:52325734G>C	ENST00000356297.4	-	15	1980	c.1880C>G	c.(1879-1881)tCc>tGc	p.S627C	PXDNL_ENST00000543296.1_Missense_Mutation_p.S627C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	627					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.S627C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTTCGTGTGGAGTTAATTGC	0.348																																																	1	Substitution - Missense(1)	lung(1)											136.0	135.0	135.0					8																	52325734		1869	4121	5990	SO:0001583	missense	137902				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1880C>G	8.37:g.52325734G>C	ENSP00000348645:p.Ser627Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like,prints_Haem_peroxidase_animal_subgr	p.S627C	ENST00000356297.4	37	c.1880	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241125	0.58995	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.66638	-0.21;-0.22	4.94	3.12	0.35913	.	.	.	.	.	T	0.77294	0.4109	M	0.70595	2.14	0.29788	N	0.833457	D	0.76494	0.999	D	0.71184	0.972	T	0.70868	-0.4755	9	0.72032	D	0.01	.	7.6404	0.28290	0.0881:0.0:0.7484:0.1635	.	627	A1KZ92	PXDNL_HUMAN	C	627	ENSP00000348645:S627C;ENSP00000444865:S627C	ENSP00000348645:S627C	S	-	2	0	PXDNL	52488287	1.000000	0.71417	0.946000	0.38457	0.887000	0.51463	2.188000	0.42612	0.477000	0.27464	0.655000	0.94253	TCC	PXDNL	-	NULL		0.348	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	HGNC	protein_coding	OTTHUMT00000377905.1	G	NM_144651		52325734	-1	no_errors	ENST00000356297	ensembl	human	known	70_37	missense	SNP	1.000	C
PYY	5697	genome.wustl.edu	37	17	42030544	42030544	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:42030544C>G	ENST00000360085.2	-	6	742	c.202G>C	c.(202-204)Gac>Cac	p.D68H	PYY_ENST00000592796.1_Missense_Mutation_p.D68H	NM_004160.4	NP_004151	P10082	PYY_HUMAN	peptide YY	68					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|digestion (GO:0007586)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCCGGGCCGTCTCTTTTCCCA	0.667																																																	0													41.0	46.0	44.0					17																	42030544		2196	4296	6492	SO:0001583	missense	5697				CCDS32662.1	17q21.1	2013-02-28				ENSG00000131096		"""Endogenous ligands"""	9748	protein-coding gene	gene with protein product	"""prepro-PYY"""	600781				7782089	Standard	NM_004160		Approved	PYY1	uc002ieq.3	P10082		ENST00000360085.2:c.202G>C	17.37:g.42030544C>G	ENSP00000353198:p.Asp68His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5Q6|Q6FGH8	Missense_Mutation	SNP	pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like	p.D68H	ENST00000360085.2	37	c.202	CCDS32662.1	17	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202141	0.58234	.	.	ENSG00000131096	ENST00000360085	T	0.15834	2.39	3.91	2.93	0.34026	.	.	.	.	.	T	0.18467	0.0443	.	.	.	0.09310	N	1	D	0.56746	0.977	P	0.46510	0.519	T	0.09378	-1.0677	8	0.59425	D	0.04	4.3625	7.2828	0.26320	0.0:0.8769:0.0:0.1231	.	68	P10082	PYY_HUMAN	H	68	ENSP00000353198:D68H	ENSP00000353198:D68H	D	-	1	0	PYY	39386070	0.001000	0.12720	0.007000	0.13788	0.221000	0.24807	0.411000	0.21115	0.841000	0.35020	0.561000	0.74099	GAC	PYY	-	NULL		0.667	PYY-001	KNOWN	basic|CCDS	protein_coding	PYY	HGNC	protein_coding	OTTHUMT00000457658.1	C	NM_004160		42030544	-1	no_errors	ENST00000360085	ensembl	human	known	70_37	missense	SNP	0.009	G
QKI	9444	genome.wustl.edu	37	6	163984548	163984548	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:163984548C>T	ENST00000361752.3	+	6	1282	c.731C>T	c.(730-732)cCt>cTt	p.P244L	QKI_ENST00000424802.3_Missense_Mutation_p.P236L|QKI_ENST00000275262.7_Missense_Mutation_p.P244L|QKI_ENST00000392127.2_Missense_Mutation_p.P244L|QKI_ENST00000453779.2_Missense_Mutation_p.P244L|QKI_ENST00000361195.2_Missense_Mutation_p.P236L	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	244					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CTGCGTACTCCTACGCCAGCT	0.562																																																	0													67.0	62.0	64.0					6																	163984548		2203	4300	6503	SO:0001583	missense	9444			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.731C>T	6.37:g.163984548C>T	ENSP00000355094:p.Pro244Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.P244L	ENST00000361752.3	37	c.731	CCDS5285.1	6	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739368	0.89573	.	.	ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.981;0.985;1.0;1.0;0.99;1.0	P;P;D;D;P;D	0.91635	0.858;0.786;0.999;0.999;0.859;0.999	T	0.76222	-0.3038	9	0.72032	D	0.01	-1.6653	20.5407	0.99260	0.0:1.0:0.0:0.0	.	236;244;236;244;244;244	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8	.;QKI_HUMAN;.;.;.;.	L	244;244;244;244;236;236	.	ENSP00000275262:P244L	P	+	2	0	QKI	163904538	1.000000	0.71417	0.475000	0.27278	0.987000	0.75469	5.773000	0.68898	2.865000	0.98341	0.655000	0.94253	CCT	QKI	-	NULL		0.562	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	HGNC	protein_coding	OTTHUMT00000043016.2	C	NM_006775		163984548	+1	no_errors	ENST00000361752	ensembl	human	known	70_37	missense	SNP	0.963	T
QKI	9444	genome.wustl.edu	37	6	163984559	163984559	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:163984559G>T	ENST00000361752.3	+	6	1293	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	QKI_ENST00000424802.3_Missense_Mutation_p.G240C|QKI_ENST00000275262.7_Missense_Mutation_p.G248C|QKI_ENST00000392127.2_Missense_Mutation_p.G248C|QKI_ENST00000453779.2_Missense_Mutation_p.G248C|QKI_ENST00000361195.2_Missense_Mutation_p.G240C	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	248					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TACGCCAGCTGGCCCTACCAT	0.572																																																	0													73.0	67.0	69.0					6																	163984559		2203	4300	6503	SO:0001583	missense	9444			AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.742G>T	6.37:g.163984559G>T	ENSP00000355094:p.Gly248Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom	p.G248C	ENST00000361752.3	37	c.742	CCDS5285.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.324564|4.324564	0.81580|0.81580	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802|ENST00000537883;ENST00000544361	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.044831|.	0.85682|.	D|.	0.000000|.	T|T	0.67906|0.67906	0.2943|0.2943	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;D;P;D;P|.	0.55385|.	0.938;0.832;0.971;0.82;0.963;0.911|.	P;P;P;P;P;P|.	0.53035|.	0.716;0.524;0.599;0.518;0.518;0.518|.	T|T	0.61959|0.61959	-0.6955|-0.6955	9|5	0.51188|.	T|.	0.08|.	-1.5905|-1.5905	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	240;248;240;248;248;248|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	C|L	248;248;248;248;240;240|144;81	.|.	ENSP00000275262:G248C|.	G|W	+|+	1|2	0|0	QKI|QKI	163904549|163904549	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.465000|9.465000	0.97660|0.97660	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGC|TGG	QKI	-	NULL		0.572	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QKI	HGNC	protein_coding	OTTHUMT00000043016.2	G	NM_006775		163984559	+1	no_errors	ENST00000361752	ensembl	human	known	70_37	missense	SNP	1.000	T
R3HCC1L	27291	genome.wustl.edu	37	10	99969375	99969375	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:99969375G>A	ENST00000298999.3	+	5	1807	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.D502N	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	502							nucleotide binding (GO:0000166)										AGTTCTTTCAGACAGTGCCGT	0.403																																																	0													84.0	78.0	80.0					10																	99969375		2203	4300	6503	SO:0001583	missense	27291			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1504G>A	10.37:g.99969375G>A	ENSP00000298999:p.Asp502Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.D502N	ENST00000298999.3	37	c.1504	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	9.993	1.231240	0.22626	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.06768	3.26;3.26	4.76	3.77	0.43336	.	0.376049	0.23159	N	0.051265	T	0.08268	0.0206	L	0.53249	1.67	0.80722	D	1	B;B	0.20052	0.041;0.041	B;B	0.16722	0.016;0.011	T	0.13335	-1.0513	9	.	.	.	-3.4081	7.076	0.25205	0.1245:0.0:0.8755:0.0	.	502;502	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	N	502	ENSP00000359616:D502N;ENSP00000298999:D502N	.	D	+	1	0	C10orf28	99959365	0.733000	0.28132	0.965000	0.40720	0.757000	0.42996	1.790000	0.38734	2.482000	0.83794	0.591000	0.81541	GAC	R3HCC1L	-	NULL		0.403	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	R3HCC1L	HGNC	protein_coding	OTTHUMT00000049764.1	G	NM_014472		99969375	+1	no_errors	ENST00000298999	ensembl	human	known	70_37	missense	SNP	0.865	A
RAB20	55647	genome.wustl.edu	37	13	111176517	111176517	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:111176517G>A	ENST00000267328.3	-	2	413	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	67					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			GCAGTACATGGAGCCCAGGCC	0.612																																																	0													31.0	34.0	33.0					13																	111176517		2203	4298	6501	SO:0001583	missense	55647			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.200C>T	13.37:g.111176517G>A	ENSP00000267328:p.Ser67Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9X5|Q9NX49	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S67F	ENST00000267328.3	37	c.200	CCDS9512.1	13	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577862	0.86645	.	.	ENSG00000139832	ENST00000267328	T	0.78246	-1.16	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88451	0.6440	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89968	0.4091	10	0.87932	D	0	-14.7547	18.4999	0.90877	0.0:0.0:1.0:0.0	.	67	Q9NX57	RAB20_HUMAN	F	67	ENSP00000267328:S67F	ENSP00000267328:S67F	S	-	2	0	RAB20	109974518	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.239000	0.95389	2.364000	0.80123	0.561000	0.74099	TCC	RAB20	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.612	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB20	HGNC	protein_coding	OTTHUMT00000045760.2	G	NM_017817		111176517	-1	no_errors	ENST00000267328	ensembl	human	known	70_37	missense	SNP	1.000	A
RAB28	9364	genome.wustl.edu	37	4	13462410	13462410	+	Missense_Mutation	SNP	C	C	G	rs554015222	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:13462410C>G	ENST00000330852.5	-	4	518	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	RAB28_ENST00000338176.4_Missense_Mutation_p.E102Q|RAB28_ENST00000288723.4_Missense_Mutation_p.E102Q	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	102					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TCTAAATTCTCAAAGCTTTGA	0.338																																																	0													87.0	87.0	87.0					4																	13462410		2203	4300	6503	SO:0001583	missense	9364			X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.304G>C	4.37:g.13462410C>G	ENSP00000328551:p.Glu102Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E102Q	ENST00000330852.5	37	c.304	CCDS33961.1	4	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.40|18.40|18.40	3.615640|3.615640|3.615640	0.66672|0.66672|0.66672	.|.|.	.|.|.	ENSG00000157869|ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000510528|ENST00000511649	T;T;T|.|.	0.78003|.|.	-1.14;-1.14;-1.14|.|.	6.01|6.01|6.01	6.01|6.01|6.01	0.97437|0.97437|0.97437	Small GTP-binding protein domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.60534|0.60534|.	0.2276|0.2276|.	L|L|L	0.31526|0.31526|0.31526	0.94|0.94|0.94	0.80722|0.80722|0.80722	D|D|D	1|1|1	B;B|.|.	0.33198|.|.	0.156;0.401|.|.	B;B|.|.	0.26310|.|.	0.06;0.068|.|.	T|T|.	0.51639|0.51639|.	-0.8680|-0.8680|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	.|.|.	20.5211|20.5211|20.5211	0.99222|0.99222|0.99222	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	102;102|.|.	P51157;P51157-2|.|.	RAB28_HUMAN;.|.|.	Q|F|S	102|16|24	ENSP00000328551:E102Q;ENSP00000288723:E102Q;ENSP00000340079:E102Q|.|.	ENSP00000288723:E102Q|.|.	E|L|X	-|-|-	1|3|2	0|2|2	RAB28|RAB28|RAB28	13071508|13071508|13071508	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.346000|7.346000|7.346000	0.79347|0.79347|0.79347	2.861000|2.861000|2.861000	0.98227|0.98227|0.98227	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAG|TTG|TGA	RAB28	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.338	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB28	HGNC	protein_coding	OTTHUMT00000207068.2	C	NM_001017979		13462410	-1	no_errors	ENST00000330852	ensembl	human	known	70_37	missense	SNP	1.000	G
RAB7A	7879	genome.wustl.edu	37	3	128516831	128516831	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:128516831C>G	ENST00000265062.3	+	3	345	c.99C>G	c.(97-99)ttC>ttG	p.F33L	RAB7A_ENST00000485280.1_Missense_Mutation_p.F33L|RAB7A_ENST00000482525.1_Missense_Mutation_p.F33L	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		ATAAGAAATTCAGCAATCAGT	0.428																																																	0													152.0	134.0	140.0					3																	128516831		2203	4300	6503	SO:0001583	missense	7879			X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.99C>G	3.37:g.128516831C>G	ENSP00000265062:p.Phe33Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F33L	ENST00000265062.3	37	c.99	CCDS3052.1	3	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615026	0.87359	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000493186;ENST00000483906;ENST00000485280	D;D;D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15;-2.15	5.69	3.92	0.45320	Small GTP-binding protein domain (1);	.	.	.	.	D	0.93684	0.7982	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.985	D	0.93777	0.7080	9	0.87932	D	0	-8.1104	12.0659	0.53588	0.0:0.8241:0.0:0.1759	.	33;33	C9J8S3;P51149	.;RAB7A_HUMAN	L	33	ENSP00000265062:F33L;ENSP00000417668:F33L;ENSP00000417978:F33L;ENSP00000418955:F33L;ENSP00000417189:F33L;ENSP00000417155:F33L;ENSP00000418283:F33L	ENSP00000265062:F33L	F	+	3	2	RAB7A	129999521	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	1.749000	0.38319	0.783000	0.33636	0.655000	0.94253	TTC	RAB7A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.428	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB7A	HGNC	protein_coding	OTTHUMT00000357479.1	C			128516831	+1	no_errors	ENST00000265062	ensembl	human	known	70_37	missense	SNP	1.000	G
RALBP1	10928	genome.wustl.edu	37	18	9535792	9535792	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:9535792G>A	ENST00000019317.4	+	10	2048	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	RALBP1_ENST00000383432.3_Missense_Mutation_p.E609K			Q15311	RBP1_HUMAN	ralA binding protein 1	609					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	GCAGGAGGACGAGGAGCCTGA	0.667																																																	0																																										SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1825G>A	18.37:g.9535792G>A	ENSP00000019317:p.Glu609Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E609K	ENST00000019317.4	37	c.1825	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	G	6.353	0.433271	0.12045	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.10005	2.92;2.92	4.83	2.08	0.27032	.	0.587244	0.16761	N	0.200640	T	0.10551	0.0258	L	0.50333	1.59	0.31184	N	0.701681	B	0.28258	0.205	B	0.19666	0.026	T	0.05517	-1.0880	10	0.41790	T	0.15	-6.8233	10.9037	0.47067	0.1322:0.1116:0.7562:0.0	.	609	Q15311	RBP1_HUMAN	K	609	ENSP00000019317:E609K;ENSP00000372924:E609K	ENSP00000019317:E609K	E	+	1	0	RALBP1	9525792	0.974000	0.33945	0.002000	0.10522	0.003000	0.03518	4.231000	0.58639	-0.025000	0.13918	-2.057000	0.00402	GAG	RALBP1	-	NULL		0.667	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	G	NM_006788		9535792	+1	no_errors	ENST00000019317	ensembl	human	known	70_37	missense	SNP	0.835	A
RALGDS	5900	genome.wustl.edu	37	9	135979179	135979179	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:135979179G>A	ENST00000372050.3	-	11	1734	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Silent_p.L570L|RALGDS_ENST00000372062.3_Silent_p.L542L|RALGDS_ENST00000372047.3_Silent_p.L559L|RALGDS_ENST00000393160.3_Silent_p.L516L|RALGDS_ENST00000542690.1_Silent_p.L642L	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	571	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CCAGGTCGGTGAGGAACGTGC	0.622			T	CIITA	"""PMBL, Hodgkin Lymphona, """						OREG0019581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0													127.0	101.0	110.0					9																	135979179		2203	4300	6503	SO:0001819	synonymous_variant	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1713C>T	9.37:g.135979179G>A		Somatic	1622	WXS	Illumina HiSeq	Phase_IV	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L642	ENST00000372050.3	37	c.1926	CCDS6959.1	9																																																																																			RALGDS	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.622	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALGDS	HGNC	protein_coding	OTTHUMT00000054837.1	G	NM_006266		135979179	-1	no_errors	ENST00000542690	ensembl	human	known	70_37	silent	SNP	1.000	A
RANBP3L	202151	genome.wustl.edu	37	5	36265092	36265092	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:36265092G>C	ENST00000296604.3	-	6	934	c.449C>G	c.(448-450)tCt>tGt	p.S150C	RANBP3L_ENST00000515759.1_Missense_Mutation_p.S150C|RANBP3L_ENST00000502994.1_Missense_Mutation_p.S175C	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	150					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGTCTTGCAAGATTCCAGTGC	0.393																																																	0													174.0	181.0	179.0					5																	36265092		2203	4300	6503	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.449C>G	5.37:g.36265092G>C	ENSP00000296604:p.Ser150Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.S150C	ENST00000296604.3	37	c.449	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258955	0.23051	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.26518	1.78;1.73;1.79	5.53	2.13	0.27403	.	1.370420	0.04443	N	0.371150	T	0.29914	0.0748	L	0.56769	1.78	0.09310	N	1	P;D	0.54047	0.939;0.964	P;B	0.46479	0.518;0.436	T	0.20140	-1.0284	10	0.72032	D	0.01	4.387	2.0	0.03465	0.124:0.1824:0.4653:0.2283	.	175;150	E9PGP9;Q86VV4	.;RNB3L_HUMAN	C	150;175;150	ENSP00000296604:S150C;ENSP00000421853:S175C;ENSP00000421149:S150C	ENSP00000296604:S150C	S	-	2	0	RANBP3L	36300849	0.376000	0.25098	0.561000	0.28357	0.054000	0.15201	0.544000	0.23253	0.730000	0.32425	0.650000	0.86243	TCT	RANBP3L	-	NULL		0.393	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	G	NM_145000		36265092	-1	no_errors	ENST00000296604	ensembl	human	known	70_37	missense	SNP	0.203	C
RANBP6	26953	genome.wustl.edu	37	9	6012370	6012370	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:6012370C>T	ENST00000259569.5	-	1	3248	c.3238G>A	c.(3238-3240)Gaa>Aaa	p.E1080K	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1080					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATAAATCTTCAGAAGTCTGT	0.373																																																	0													78.0	73.0	75.0					9																	6012370		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.3238G>A	9.37:g.6012370C>T	ENSP00000259569:p.Glu1080Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.E1080K	ENST00000259569.5	37	c.3238	CCDS6467.1	9	.	.	.	.	.	.	.	.	.	.	C	9.197	1.027620	0.19512	.	.	ENSG00000137040	ENST00000259569	T	0.09630	2.96	4.52	4.52	0.55395	Armadillo-like helical (1);Armadillo-type fold (1);	0.176489	0.48286	D	0.000188	T	0.06600	0.0169	N	0.17082	0.46	0.42787	D	0.993888	B;B;B	0.20887	0.049;0.016;0.029	B;B;B	0.14023	0.01;0.007;0.01	T	0.15435	-1.0437	10	0.06757	T	0.87	-6.676	15.5697	0.76323	0.0:1.0:0.0:0.0	.	247;668;1080	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	K	1080	ENSP00000259569:E1080K	ENSP00000259569:E1080K	E	-	1	0	RANBP6	6002370	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.157000	0.42320	2.813000	0.96785	0.655000	0.94253	GAA	RANBP6	-	superfamily_ARM-type_fold		0.373	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP6	HGNC	protein_coding	OTTHUMT00000051650.1	C	NM_012416		6012370	-1	no_errors	ENST00000259569	ensembl	human	known	70_37	missense	SNP	1.000	T
RAP1B	5908	genome.wustl.edu	37	12	69044238	69044238	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:69044238C>G	ENST00000250559.9	+	3	347	c.116C>G	c.(115-117)tCt>tGt	p.S39C	RAP1B_ENST00000541216.1_Missense_Mutation_p.S39C|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000450214.2_Intron|RAP1B_ENST00000540209.1_Missense_Mutation_p.S39C|RAP1B_ENST00000543697.1_Missense_Mutation_p.S39C|RAP1B_ENST00000341355.5_Missense_Mutation_p.S39C|RAP1B_ENST00000542145.1_Missense_Mutation_p.S39C|RAP1B_ENST00000393436.5_Missense_Mutation_p.S39C|RAP1B_ENST00000539091.1_Intron|RAP1B_ENST00000537460.1_Missense_Mutation_p.S39C	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	39	Interaction with KRIT1.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		ATAGAAGATTCTTATAGAAAG	0.239																																																	0													25.0	28.0	27.0					12																	69044238		2176	4268	6444	SO:0001583	missense	5908				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.116C>G	12.37:g.69044238C>G	ENSP00000250559:p.Ser39Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S39C	ENST00000250559.9	37	c.116	CCDS8984.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570869	0.86542	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-0.52;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.35	5.35	0.76521	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.86585	0.5968	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.983;0.987	D	0.84509	0.0621	9	.	.	.	.	19.9476	0.97189	0.0:1.0:0.0:0.0	.	39;39;39	B4DW94;B4DQI8;P61224	.;.;RAP1B_HUMAN	C	39	ENSP00000250559:S39C;ENSP00000377085:S39C;ENSP00000401095:S39C;ENSP00000445138:S39C;ENSP00000444786:S39C;ENSP00000441275:S39C;ENSP00000439966:S39C;ENSP00000437415:S39C;ENSP00000438088:S39C;ENSP00000441952:S39C;ENSP00000444060:S39C;ENSP00000446318:S39C;ENSP00000440466:S39C;ENSP00000440014:S39C;ENSP00000444924:S39C;ENSP00000440635:S39C;ENSP00000440708:S39C;ENSP00000438311:S39C;ENSP00000443851:S39C	.	S	+	2	0	RAP1B	67330505	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.775000	0.68915	2.890000	0.99128	0.585000	0.79938	TCT	RAP1B	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.239	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1B	HGNC	protein_coding	OTTHUMT00000257821.3	C	NM_001010942		69044238	+1	no_errors	ENST00000250559	ensembl	human	known	70_37	missense	SNP	1.000	G
RAP2C	57826	genome.wustl.edu	37	X	131351213	131351213	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:131351213G>A	ENST00000342983.2	-	2	830	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RAP2C-AS1_ENST00000441399.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Silent_p.F28F|RAP2C-AS1_ENST00000421483.2_RNA	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	28					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ATTTCTCAATGAAAGTCCCAG	0.498																																																	0													160.0	163.0	162.0					X																	131351213		2203	4300	6503	SO:0001819	synonymous_variant	57826			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.84C>T	X.37:g.131351213G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F28	ENST00000342983.2	37	c.84	CCDS14632.1	X																																																																																			RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.498	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	G	NM_021183		131351213	-1	no_errors	ENST00000342983	ensembl	human	known	70_37	silent	SNP	1.000	A
RAPGEF6	51735	genome.wustl.edu	37	5	130883862	130883862	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:130883862C>T	ENST00000509018.1	-	6	578	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RAPGEF6_ENST00000503398.2_5'UTR|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E175K|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E125K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E125K|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E125K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E125K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E125K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	125					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATACTATCTTCATTATCTTTG	0.343																																					Melanoma(168;435 1955 13113 13877 23213)												0													118.0	111.0	113.0					5																	130883862		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.373G>A	5.37:g.130883862C>T	ENSP00000421684:p.Glu125Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E125K	ENST00000509018.1	37	c.373	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224337	0.58668	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.26373	1.92;1.84;1.84;1.92;1.74;2.27;2.01	5.74	5.74	0.90152	.	0.132612	0.50627	D	0.000103	T	0.23133	0.0559	L	0.51422	1.61	0.80722	D	1	P;P;P;P;P;P	0.44627	0.839;0.745;0.622;0.745;0.835;0.745	B;B;B;B;B;B	0.36567	0.114;0.114;0.164;0.114;0.228;0.114	T	0.01909	-1.1249	10	0.42905	T	0.14	.	13.1654	0.59569	0.0:0.9272:0.0:0.0728	.	125;125;125;175;125;125	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	K	125;125;125;125;125;125;125;175	ENSP00000421684:E125K;ENSP00000309298:E125K;ENSP00000426081:E125K;ENSP00000296859:E125K;ENSP00000311419:E125K;ENSP00000425389:E125K;ENSP00000426948:E175K	ENSP00000426948:E175K	E	-	1	0	RAPGEF6;FNIP1	130911761	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.086000	0.57664	2.712000	0.92718	0.650000	0.86243	GAA	RAPGEF6	-	NULL		0.343	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	C	NM_016340		130883862	-1	no_errors	ENST00000509018	ensembl	human	known	70_37	missense	SNP	1.000	T
RARB	5915	genome.wustl.edu	37	3	25636104	25636104	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:25636104delG	ENST00000404969.1	+	7	1106	c.1106delG	c.(1105-1107)agcfs	p.S369fs	RARB_ENST00000462272.1_3'UTR|RARB_ENST00000330688.4_Frame_Shift_Del_p.S362fs|RARB_ENST00000458646.1_Frame_Shift_Del_p.S250fs|RARB_ENST00000437042.2_Frame_Shift_Del_p.S250fs			P10826	RARB_HUMAN	retinoic acid receptor, beta	369	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGACGACCCAGCAAGCCTCAC	0.423																																																	0													108.0	104.0	105.0					3																	25636104		2203	4300	6503	SO:0001589	frameshift_variant	5915			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1106delG	3.37:g.25636104delG	ENSP00000385865:p.Ser369fs	Somatic		WXS	Illumina HiSeq	Phase_IV	P12891|Q00989|Q15298|Q9UN48	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.S369fs	ENST00000404969.1	37	c.1106		3																																																																																			RARB	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.423	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		G	NM_000965, NM_016152		25636104	+1	no_errors	ENST00000404969	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
RASGRP1	10125	genome.wustl.edu	37	15	38786816	38786816	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:38786816C>T	ENST00000310803.5	-	16	2203	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	RASGRP1_ENST00000450598.2_Missense_Mutation_p.E641K|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Missense_Mutation_p.E628K|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000561180.1_Missense_Mutation_p.E727K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	676					activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		GGCTGTGATTCAGTCTGGGTG	0.542																																																	0													29.0	31.0	30.0					15																	38786816		1928	4115	6043	SO:0001583	missense	10125			AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.2026G>A	15.37:g.38786816C>T	ENSP00000310244:p.Glu676Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.E676K	ENST00000310803.5	37	c.2026	CCDS45222.1	15	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507090	0.85282	.	.	ENSG00000172575	ENST00000310803;ENST00000450598;ENST00000539159	T;D;T	0.82984	-1.38;-1.67;-1.44	5.22	5.22	0.72569	.	0.409080	0.27495	N	0.019107	D	0.83857	0.5345	L	0.27053	0.805	0.58432	D	0.999996	P;B	0.51351	0.944;0.336	P;B	0.55011	0.766;0.268	D	0.85784	0.1363	10	0.72032	D	0.01	-23.8292	18.9728	0.92722	0.0:1.0:0.0:0.0	.	676;641	O95267;O95267-2	GRP1_HUMAN;.	K	676;641;628	ENSP00000310244:E676K;ENSP00000388540:E641K;ENSP00000444762:E628K	ENSP00000310244:E676K	E	-	1	0	RASGRP1	36574108	1.000000	0.71417	0.094000	0.20943	0.740000	0.42216	6.833000	0.75334	2.732000	0.93576	0.650000	0.86243	GAA	RASGRP1	-	NULL		0.542	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRP1	HGNC	protein_coding	OTTHUMT00000418223.1	C	NM_005739		38786816	-1	no_errors	ENST00000310803	ensembl	human	known	70_37	missense	SNP	0.986	T
RASL12	51285	genome.wustl.edu	37	15	65350926	65350926	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:65350926C>T	ENST00000220062.4	-	4	540	c.264G>A	c.(262-264)ctG>ctA	p.L88L	RASL12_ENST00000434605.2_Silent_p.L77L|RASL12_ENST00000421977.3_Silent_p.L69L	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	88					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGGCCCAGTTCAGGTAGCGCT	0.647																																																	0													49.0	46.0	47.0					15																	65350926		2202	4299	6501	SO:0001819	synonymous_variant	51285			AF233588	CCDS10200.1	15q11.2-q22.33	2014-05-09			ENSG00000103710	ENSG00000103710			30289	protein-coding gene	gene with protein product	"""Ras family member Ris"""					12107412	Standard	NM_016563		Approved	RIS	uc002aoi.1	Q9NYN1	OTTHUMG00000133115	ENST00000220062.4:c.264G>A	15.37:g.65350926C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC29|B4DJW2|B4DU82	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L88	ENST00000220062.4	37	c.264	CCDS10200.1	15																																																																																			RASL12	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.647	RASL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL12	HGNC	protein_coding	OTTHUMT00000256782.2	C	NM_016563		65350926	-1	no_errors	ENST00000220062	ensembl	human	known	70_37	silent	SNP	0.985	T
TUSC2	11334	genome.wustl.edu	37	3	50368087	50368087	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:50368087G>A	ENST00000232496.4	-	0	0				RASSF1_ENST00000395126.3_Silent_p.L165L|RASSF1_ENST00000327761.3_Silent_p.L246L|RASSF1_ENST00000359365.4_Silent_p.L316L|TUSC2_ENST00000462137.1_5'Flank|RASSF1_ENST00000357043.2_Silent_p.L320L	NM_007275.1	NP_009206.1	O75896	TUSC2_HUMAN	tumor suppressor candidate 2						cell cycle (GO:0007049)|cell maturation (GO:0048469)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|chemokine (C-C motif) ligand 5 production (GO:0071609)|inflammatory response (GO:0006954)|interleukin-15 production (GO:0032618)|natural killer cell differentiation (GO:0001779)|negative regulation of interleukin-17 production (GO:0032700)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)|phagocytosis (GO:0006909)|positive regulation of interleukin-10 production (GO:0032733)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to defense-related host reactive oxygen species production (GO:0052567)	mitochondrion (GO:0005739)				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCTGGCGGAGGTGCTCCT	0.597																																																	0													107.0	98.0	101.0					3																	50368087		2203	4300	6503	SO:0001631	upstream_gene_variant	11186			AF055479	CCDS2819.1	3p21.3	2010-09-21	2004-01-20	2004-01-21	ENSG00000114383	ENSG00000114383			17034	protein-coding gene	gene with protein product		607052	"""PDGFA associated protein 2"""	PDAP2		8780057, 11593436	Standard	NM_007275		Approved	FUS1, PAP, C3orf11	uc003czy.1	O75896	OTTHUMG00000156877		3.37:g.50368087G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4Y9	Silent	SNP	pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.L320	ENST00000232496.4	37	c.960	CCDS2819.1	3																																																																																			RASSF1	-	pfscan_SARAH		0.597	TUSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF1	HGNC	protein_coding	OTTHUMT00000346399.1	G	NM_007275		50368087	-1	no_errors	ENST00000357043	ensembl	human	known	70_37	silent	SNP	0.995	A
RASSF2	9770	genome.wustl.edu	37	20	4776485	4776485	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:4776485G>C	ENST00000379400.3	-	5	458	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RASSF2_ENST00000478553.1_5'Flank|RASSF2_ENST00000379376.2_Missense_Mutation_p.S88C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	88					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GTTACAGCCAGAGTGCCAGGA	0.592																																					Melanoma(158;1891 3343 50738)												0													125.0	120.0	121.0					20																	4776485		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.263C>G	20.37:g.4776485G>C	ENSP00000368710:p.Ser88Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.S88C	ENST00000379400.3	37	c.263	CCDS13083.1	20	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572164	0.86542	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.11495	2.77;2.77	5.13	5.13	0.70059	.	0.054606	0.85682	D	0.000000	T	0.36413	0.0966	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.09357	-1.0678	10	0.56958	D	0.05	.	17.3318	0.87267	0.0:0.0:1.0:0.0	.	88	P50749	RASF2_HUMAN	C	88	ENSP00000368710:S88C;ENSP00000368684:S88C	ENSP00000368684:S88C	S	-	2	0	RASSF2	4724485	1.000000	0.71417	0.959000	0.39883	0.957000	0.61999	8.915000	0.92740	2.665000	0.90641	0.563000	0.77884	TCT	RASSF2	-	NULL		0.592	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	G	NM_014737		4776485	-1	no_errors	ENST00000379376	ensembl	human	known	70_37	missense	SNP	1.000	C
RBM12B	389677	genome.wustl.edu	37	8	94746938	94746938	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:94746938G>A	ENST00000399300.2	-	3	1914	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Silent_p.F567F|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	567							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCGGGGGGAACCTAAAGT	0.597																																																	0													69.0	70.0	70.0					8																	94746938		1852	4093	5945	SO:0001819	synonymous_variant	389677				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1701C>T	8.37:g.94746938G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYB5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F567	ENST00000399300.2	37	c.1701	CCDS43755.1	8																																																																																			RBM12B	-	NULL		0.597	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1	G	NM_203390		94746938	-1	no_errors	ENST00000399300	ensembl	human	known	70_37	silent	SNP	0.003	A
RBM14	10432	genome.wustl.edu	37	11	66384308	66384308	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66384308C>T	ENST00000310137.4	+	1	256	c.117C>T	c.(115-117)ttC>ttT	p.F39F	RBM14-RBM4_ENST00000412278.2_Silent_p.F39F|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000393979.3_Silent_p.F39F|RBM14_ENST00000409738.4_Silent_p.F39F|RBM4_ENST00000503028.2_5'UTR|RBM4_ENST00000514361.3_Silent_p.F39F|RBM14_ENST00000443702.1_Silent_p.F39F|RNU4-39P_ENST00000362455.1_RNA|RBM14-RBM4_ENST00000500635.2_Silent_p.F39F|RBM14_ENST00000409372.1_Silent_p.F39F	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	39	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTTCGCCTTCGTGCACATGC	0.701																																																	0													30.0	32.0	31.0					11																	66384308		2200	4293	6493	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.117C>T	11.37:g.66384308C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.F39	ENST00000310137.4	37	c.117	CCDS8147.1	11																																																																																			RBM14	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.701	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66384308	+1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	1.000	T
RBM14	10432	genome.wustl.edu	37	11	66393087	66393087	+	Silent	SNP	C	C	T	rs371074542		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66393087C>T	ENST00000310137.4	+	2	1879	c.1740C>T	c.(1738-1740)cgC>cgT	p.R580R	RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14_ENST00000393979.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	580					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGCGTACCCGCCTCTCCCCAC	0.667																																																	0								C	,,,,	1,4353		0,1,2176	27.0	28.0	28.0		,,,,1740	-1.0	1.0	11		28	0,8522		0,0,4261	no	intron,intron,intron,intron,coding-synonymous	RBM14,RBM14-RBM4	NM_001198836.1,NM_001198837.1,NM_001198845.1,NM_001198846.1,NM_006328.3	,,,,	0,1,6437	TT,TC,CC		0.0,0.023,0.0078	,,,,	,,,,580/670	66393087	1,12875	2177	4261	6438	SO:0001819	synonymous_variant	10432			AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1740C>T	11.37:g.66393087C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R580	ENST00000310137.4	37	c.1740	CCDS8147.1	11																																																																																			RBM14	-	NULL		0.667	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	HGNC	protein_coding	OTTHUMT00000277128.1	C	NM_006328		66393087	+1	no_errors	ENST00000310137	ensembl	human	known	70_37	silent	SNP	0.990	T
RBM26	64062	genome.wustl.edu	37	13	79927342	79927342	+	Silent	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:79927342A>G	ENST00000438737.2	-	14	2444	c.2004T>C	c.(2002-2004)tcT>tcC	p.S668S	RBM26_ENST00000267229.7_Intron|RBM26_ENST00000438724.1_Intron			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	668					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TGTCCTTCACAGATAACTTAG	0.333																																																	0													16.0	16.0	16.0					13																	79927342		871	1987	2858	SO:0001819	synonymous_variant	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2004T>C	13.37:g.79927342A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.S668	ENST00000438737.2	37	c.2004		13																																																																																			RBM26	-	NULL		0.333	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4	A	NM_022118		79927342	-1	no_errors	ENST00000327303	ensembl	human	known	70_37	silent	SNP	1.000	G
RBMX2	51634	genome.wustl.edu	37	X	129535995	129535995	+	5'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:129535995G>C	ENST00000305536.6	+	0	53				RBMX2_ENST00000469953.1_3'UTR|RBMX2_ENST00000370947.1_5'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TGCTGAGCGCGAACCCGAGGA	0.667																																																	0													12.0	13.0	12.0					X																	129535995		1946	4109	6055	SO:0001623	5_prime_UTR_variant	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.-12G>C	X.37:g.129535995G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Z0|Q5JY82|Q9Y3I8	RNA	SNP	-	NULL	ENST00000305536.6	37	NULL	CCDS43993.1	X																																																																																			RBMX2	-	-		0.667	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	G	NM_016024		129535995	+1	no_errors	ENST00000469953	ensembl	human	known	70_37	rna	SNP	0.000	C
RBMX2	51634	genome.wustl.edu	37	X	129536100	129536100	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:129536100G>A	ENST00000305536.6	+	1	69				RBMX2_ENST00000469953.1_3'UTR|RBMX2_ENST00000370947.1_Intron	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2								nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						CTGCGGGGCCGAGGGGCGGGA	0.632																																																	0													7.0	7.0	7.0					X																	129536100		688	1574	2262	SO:0001627	intron_variant	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.5+89G>A	X.37:g.129536100G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Z0|Q5JY82|Q9Y3I8	RNA	SNP	-	NULL	ENST00000305536.6	37	NULL	CCDS43993.1	X																																																																																			RBMX2	-	-		0.632	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	G	NM_016024		129536100	+1	no_errors	ENST00000469953	ensembl	human	known	70_37	rna	SNP	0.000	A
RC3H2	54542	genome.wustl.edu	37	9	125613673	125613673	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:125613673C>G	ENST00000373670.1	-	18	3760	c.3160G>C	c.(3160-3162)Gat>Cat	p.D1054H	RC3H2_ENST00000357244.2_Missense_Mutation_p.D1054H			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1054					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ATATCCCTATCAGGTTTAGTA	0.413																																																	0													115.0	115.0	115.0					9																	125613673		1897	4109	6006	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3160G>C	9.37:g.125613673C>G	ENSP00000362774:p.Asp1054His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.D1054H	ENST00000373670.1	37	c.3160	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373391	0.82573	.	.	ENSG00000056586	ENST00000373670;ENST00000357244	T;T	0.52754	0.65;0.65	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.60591	-0.7233	10	0.72032	D	0.01	-12.5492	17.3358	0.87280	0.0:1.0:0.0:0.0	.	1054	Q9HBD1	RC3H2_HUMAN	H	1054	ENSP00000362774:D1054H;ENSP00000349783:D1054H	ENSP00000349783:D1054H	D	-	1	0	RC3H2	124653494	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.316000	0.59178	2.840000	0.97914	0.655000	0.94253	GAT	RC3H2	-	NULL		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125613673	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	G
RC3H2	54542	genome.wustl.edu	37	9	125645647	125645647	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:125645647C>G	ENST00000373670.1	-	4	1195	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	RC3H2_ENST00000423239.2_Missense_Mutation_p.E199Q|RC3H2_ENST00000357244.2_Missense_Mutation_p.E199Q|RC3H2_ENST00000335387.5_Missense_Mutation_p.E199Q|RC3H2_ENST00000373665.2_Missense_Mutation_p.E199Q			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	199	ROQ.				B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCAAGGCCTCTTCTTGCATA	0.403																																																	0													104.0	95.0	98.0					9																	125645647		1881	4111	5992	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.595G>C	9.37:g.125645647C>G	ENSP00000362774:p.Glu199Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.E199Q	ENST00000373670.1	37	c.595	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.263089	0.95399	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239;ENST00000373665;ENST00000335387	D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56	5.83	5.83	0.93111	.	0.049149	0.85682	D	0.000000	D	0.95978	0.8690	L	0.58810	1.83	0.80722	D	1	D;D;D	0.67145	0.996;0.982;0.99	P;P;P	0.57468	0.821;0.628;0.794	D	0.96062	0.9039	10	0.87932	D	0	-31.1697	19.112	0.93319	0.0:1.0:0.0:0.0	.	199;199;199	A6NHN2;Q9HBD1;Q9HBD1-4	.;RC3H2_HUMAN;.	Q	199;199;70;199;199;199	ENSP00000362774:E199Q;ENSP00000349783:E199Q;ENSP00000411767:E199Q;ENSP00000362769:E199Q;ENSP00000335150:E199Q	ENSP00000335150:E199Q	E	-	1	0	RC3H2	124685468	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.756000	0.94617	0.585000	0.79938	GAG	RC3H2	-	NULL		0.403	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	HGNC	protein_coding	OTTHUMT00000053966.1	C	NM_018835		125645647	-1	no_errors	ENST00000357244	ensembl	human	known	70_37	missense	SNP	1.000	G
RCBTB2	1102	genome.wustl.edu	37	13	49075957	49075957	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:49075957C>G	ENST00000344532.3	-	12	1588	c.1165G>C	c.(1165-1167)Gac>Cac	p.D389H	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D115H|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D394H	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	389					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TCCGGGTTGTCAAATTCCCTC	0.413																																																	0													102.0	89.0	94.0					13																	49075957		2203	4300	6503	SO:0001583	missense	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1165G>C	13.37:g.49075957C>G	ENSP00000345144:p.Asp389His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDW8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.D394H	ENST00000344532.3	37	c.1180	CCDS9411.1	13	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450935	0.63290	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.68765	-0.35;-0.35;-0.35	5.3	5.3	0.74995	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83013	0.5162	M	0.77820	2.39	0.80722	D	1	B;B;D;B	0.89917	0.376;0.137;1.0;0.148	B;B;D;B	0.91635	0.33;0.169;0.999;0.333	D	0.84857	0.0817	10	0.87932	D	0	.	19.3241	0.94254	0.0:1.0:0.0:0.0	.	115;394;341;389	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	H	389;341;394;394;115	ENSP00000345144:D389H;ENSP00000389910:D394H;ENSP00000443862:D115H	ENSP00000345144:D389H	D	-	1	0	RCBTB2	47973958	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.439000	0.80444	2.629000	0.89072	0.563000	0.77884	GAC	RCBTB2	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold		0.413	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	C	NM_001268		49075957	-1	no_errors	ENST00000430805	ensembl	human	known	70_37	missense	SNP	1.000	G
RCBTB2	1102	genome.wustl.edu	37	13	49075967	49075967	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:49075967C>T	ENST00000344532.3	-	12	1578	c.1155G>A	c.(1153-1155)aaG>aaA	p.K385K	RCBTB2_ENST00000544492.1_Silent_p.K111K|RCBTB2_ENST00000430805.2_Silent_p.K390K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	385					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CAAATTCCCTCTTCAGTGACT	0.433																																																	0													94.0	82.0	86.0					13																	49075967		2203	4300	6503	SO:0001819	synonymous_variant	1102			AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1155G>A	13.37:g.49075967C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDW8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.K390	ENST00000344532.3	37	c.1170	CCDS9411.1	13																																																																																			RCBTB2	-	superfamily_BTB/POZ_fold		0.433	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	HGNC	protein_coding	OTTHUMT00000044888.2	C	NM_001268		49075967	-1	no_errors	ENST00000430805	ensembl	human	known	70_37	silent	SNP	1.000	T
RDX	5962	genome.wustl.edu	37	11	110135560	110135560	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:110135560C>T	ENST00000343115.4	-	4	455	c.136G>A	c.(136-138)Ggg>Agg	p.G46R	RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000544551.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.G46R|RDX_ENST00000528498.1_Missense_Mutation_p.G46R	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	46	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TACTGCAGCCCAAAAAACCAG	0.323																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												0													113.0	108.0	110.0					11																	110135560		2201	4298	6499	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.136G>A	11.37:g.110135560C>T	ENSP00000342830:p.Gly46Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.G46R	ENST00000343115.4	37	c.136	CCDS8343.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.129476	0.94473	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000532118;ENST00000533991	D;D;D;D;D	0.98207	-3.37;-3.37;-3.37;-4.79;-4.79	5.65	5.65	0.86999	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.996	D	0.98152	1.0442	10	0.87932	D	0	.	14.2932	0.66295	0.0:0.9288:0.0:0.0712	.	46;46	A7YIJ8;P35241	.;RADI_HUMAN	R	46;46;46;46;35;35	ENSP00000432112:G46R;ENSP00000384136:G46R;ENSP00000342830:G46R;ENSP00000437140:G35R;ENSP00000432572:G35R	ENSP00000342830:G46R	G	-	1	0	RDX	109640770	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.041000	0.57339	2.822000	0.97130	0.650000	0.86243	GGG	RDX	-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain		0.323	RDX-001	KNOWN	basic|CCDS	protein_coding	RDX	HGNC	protein_coding	OTTHUMT00000390535.2	C	NM_002906		110135560	-1	no_errors	ENST00000530749	ensembl	human	known	70_37	missense	SNP	1.000	T
RECK	8434	genome.wustl.edu	37	9	36063807	36063807	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:36063807C>G	ENST00000377966.3	+	5	853	c.287C>G	c.(286-288)tCt>tGt	p.S96C	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	96	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTAAGAAGTCTGATGGCTGG	0.418																																																	0													121.0	107.0	112.0					9																	36063807		2203	4300	6503	SO:0001583	missense	8434			E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.287C>G	9.37:g.36063807C>G	ENSP00000367202:p.Ser96Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Prot_inh_PMP,smart_Prot_inh_Kazal	p.S96C	ENST00000377966.3	37	c.287	CCDS6597.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098216	0.76870	.	.	ENSG00000122707	ENST00000377966	T	0.47177	0.85	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	N	0.14661	0.345	0.45648	D	0.998576	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.79108	0.99;0.945;0.992	T	0.57254	-0.7843	10	0.49607	T	0.09	-20.588	17.4988	0.87726	0.0:1.0:0.0:0.0	.	96;96;96	B2RCE6;O95980;Q6P9E2	.;RECK_HUMAN;.	C	96	ENSP00000367202:S96C	ENSP00000367202:S96C	S	+	2	0	RECK	36053807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.808000	0.69165	2.726000	0.93360	0.563000	0.77884	TCT	RECK	-	NULL		0.418	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECK	HGNC	protein_coding	OTTHUMT00000052409.1	C			36063807	+1	no_errors	ENST00000377966	ensembl	human	known	70_37	missense	SNP	1.000	G
REG1A	5967	genome.wustl.edu	37	2	79348786	79348786	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:79348786G>A	ENST00000233735.1	+	3	266	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	55	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGAAGACCGTGAGACCTGGGT	0.572																																																	0													157.0	149.0	151.0					2																	79348786		2203	4300	6503	SO:0001583	missense	5967				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.163G>A	2.37:g.79348786G>A	ENSP00000233735:p.Glu55Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P11379|Q4ZG28	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E55K	ENST00000233735.1	37	c.163	CCDS1964.1	2	.	.	.	.	.	.	.	.	.	.	g	10.85	1.465570	0.26335	.	.	ENSG00000115386	ENST00000233735	T	0.64085	-0.08	2.97	0.305	0.15801	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.711339	0.11447	N	0.563131	T	0.23727	0.0574	N	0.01015	-1.05	0.09310	N	1	P;P	0.49559	0.827;0.925	P;B	0.44359	0.447;0.362	T	0.26608	-1.0098	10	0.02654	T	1	.	2.0022	0.03470	0.2636:0.0:0.3068:0.4296	.	55;55	A8K7G6;P05451	.;REG1A_HUMAN	K	55	ENSP00000233735:E55K	ENSP00000233735:E55K	E	+	1	0	REG1A	79202294	0.000000	0.05858	0.001000	0.08648	0.931000	0.56810	-1.230000	0.02942	0.042000	0.15717	0.563000	0.77884	GAG	REG1A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.572	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	HGNC	protein_coding	OTTHUMT00000252289.1	G	NM_002909		79348786	+1	no_errors	ENST00000233735	ensembl	human	known	70_37	missense	SNP	0.001	A
REEP1	65055	genome.wustl.edu	37	2	86444209	86444209	+	3'UTR	SNP	G	G	C	rs375445585		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:86444209G>C	ENST00000165698.5	-	0	763				REEP1_ENST00000538924.1_3'UTR|REEP1_ENST00000540790.1_3'UTR|REEP1_ENST00000535845.1_3'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.R129G	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1						cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCTGAAGCGAGATCGAAGG	0.498																																																	0			GRCh37	CR082030	REEP1	R							142.0	133.0	136.0					2																	86444209		2203	4300	6503	SO:0001624	3_prime_UTR_variant	65055			AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.*14C>G	2.37:g.86444209G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	pfam_TB2_DP1_HVA22	p.R129G	ENST00000165698.5	37	c.385	CCDS1989.1	2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015734	0.75161	.	.	ENSG00000068615	ENST00000541910	D	0.94862	-3.54	5.93	5.93	0.95920	.	.	.	.	.	D	0.93180	0.7828	.	.	.	0.80722	D	1	P	0.44090	0.826	B	0.43155	0.41	D	0.91736	0.5400	8	0.30078	T	0.28	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	129	B7Z4D7	.	G	129	ENSP00000442681:R129G	ENSP00000442681:R129G	R	-	1	0	REEP1	86297720	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.780000	0.75063	2.826000	0.97356	0.655000	0.94253	CGC	REEP1	-	NULL		0.498	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REEP1	HGNC	protein_coding	OTTHUMT00000252523.2	G	NM_022912		86444209	-1	no_errors	ENST00000541910	ensembl	human	known	70_37	missense	SNP	1.000	C
RERE	473	genome.wustl.edu	37	1	8418579	8418579	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:8418579G>A	ENST00000337907.3	-	21	4650	c.4016C>T	c.(4015-4017)cCa>cTa	p.P1339L	RERE_ENST00000377464.1_Missense_Mutation_p.P1071L|RERE_ENST00000400908.2_Missense_Mutation_p.P1339L|RERE_ENST00000476556.1_Missense_Mutation_p.P785L|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1339					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGGCGGCTGGGTGCAGGGG	0.692																																																	0													13.0	19.0	17.0					1																	8418579		2191	4292	6483	SO:0001583	missense	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.4016C>T	1.37:g.8418579G>A	ENSP00000338629:p.Pro1339Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.P1339L	ENST00000337907.3	37	c.4016	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810167	0.90707	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908	T;T;T	0.47528	0.84;0.85;0.84	5.61	5.61	0.85477	.	.	.	.	.	T	0.67795	0.2931	M	0.70275	2.135	0.80722	D	1	D	0.67145	0.996	D	0.68483	0.958	T	0.63598	-0.6601	9	0.34782	T	0.22	-17.5744	18.9896	0.92786	0.0:0.0:1.0:0.0	.	1339	Q9P2R6	RERE_HUMAN	L	1339;1071;785;1339	ENSP00000338629:P1339L;ENSP00000366684:P1071L;ENSP00000383700:P1339L	ENSP00000338629:P1339L	P	-	2	0	RERE	8341166	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	7.917000	0.87498	2.793000	0.96121	0.655000	0.94253	CCA	RERE	-	pfam_Atrophin-like		0.692	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	G			8418579	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	missense	SNP	1.000	A
RFX5	5993	genome.wustl.edu	37	1	151317606	151317606	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:151317606G>A	ENST00000290524.4	-	5	387	c.209C>T	c.(208-210)tCa>tTa	p.S70L	RFX5_ENST00000452671.2_Missense_Mutation_p.S70L|RFX5_ENST00000368870.2_Missense_Mutation_p.S70L|RP11-126K1.6_ENST00000455503.1_RNA|RFX5_ENST00000452513.2_Missense_Mutation_p.S70L|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	70	N-terminal domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTGGGTCCTGAGGGGAGCTG	0.453																																																	0													89.0	87.0	87.0					1																	151317606		2203	4300	6503	SO:0001583	missense	5993				CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.209C>T	1.37:g.151317606G>A	ENSP00000290524:p.Ser70Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S70L	ENST00000290524.4	37	c.209	CCDS994.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576177	0.86645	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746;ENST00000422595;ENST00000450506;ENST00000458484;ENST00000430227;ENST00000412774;ENST00000437327;ENST00000436271	T;T;T;T;T;T;D;D	0.83755	0.09;0.09;0.09;0.11;0.09;-0.77;-1.76;-1.76	5.23	5.23	0.72850	.	0.148106	0.47852	D	0.000218	D	0.83478	0.5263	L	0.61218	1.895	0.51233	D	0.999916	P;P	0.51147	0.942;0.819	P;B	0.52159	0.691;0.322	D	0.85249	0.1043	10	0.66056	D	0.02	-3.5179	15.6438	0.77033	0.0:0.0:1.0:0.0	.	70;70	B7Z848;P48382	.;RFX5_HUMAN	L	70	ENSP00000290524:S70L;ENSP00000357864:S70L;ENSP00000389130:S70L;ENSP00000398388:S70L;ENSP00000376502:S70L;ENSP00000399095:S70L;ENSP00000398666:S70L;ENSP00000409187:S70L	ENSP00000290524:S70L	S	-	2	0	RFX5	149584230	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	8.682000	0.91232	2.720000	0.93068	0.591000	0.81541	TCA	RFX5	-	NULL		0.453	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX5	HGNC	protein_coding	OTTHUMT00000034892.6	G	NM_000449		151317606	-1	no_errors	ENST00000290524	ensembl	human	known	70_37	missense	SNP	1.000	A
RHBDD2	57414	genome.wustl.edu	37	7	75517728	75517728	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:75517728G>C	ENST00000006777.6	+	0	1291				RHBDD2_ENST00000428119.1_3'UTR|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000318622.4_3'UTR	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2							Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						AGAGTCTCCTGACAaaagtta	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	57414			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.*61G>C	7.37:g.75517728G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	RNA	SNP	-	NULL	ENST00000006777.6	37	NULL	CCDS43602.1	7																																																																																			RHBDD2	-	-		0.512	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD2	HGNC	protein_coding	OTTHUMT00000344176.1	G	NM_020684		75517728	+1	no_errors	ENST00000468304	ensembl	human	putative	70_37	rna	SNP	0.001	C
RHBDF2	79651	genome.wustl.edu	37	17	74467961	74467961	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:74467961G>A	ENST00000313080.4	-	19	2598	c.2325C>T	c.(2323-2325)ttC>ttT	p.F775F	RHBDF2_ENST00000389760.4_Silent_p.F746F|RHBDF2_ENST00000591885.1_Silent_p.F746F	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	775					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGAGGAAGCCGAAGATGTGGG	0.612																																																	0													133.0	88.0	103.0					17																	74467961		2197	4295	6492	SO:0001819	synonymous_variant	79651			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2325C>T	17.37:g.74467961G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.F775	ENST00000313080.4	37	c.2325	CCDS32743.1	17																																																																																			RHBDF2	-	pfam_Peptidase_S54_rhomboid_dom		0.612	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	G	NM_024599		74467961	-1	no_errors	ENST00000313080	ensembl	human	known	70_37	silent	SNP	1.000	A
RHOBTB3	22836	genome.wustl.edu	37	5	95128826	95128826	+	Missense_Mutation	SNP	C	C	T	rs148767115		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:95128826C>T	ENST00000379982.3	+	12	2292	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	RHOBTB3_ENST00000504179.1_Missense_Mutation_p.A226V|GLRX_ENST00000507605.1_Intron|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	595	Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGCAGCTTGCGGAATACAGG	0.363																																																	0								C	VAL/ALA	0,4406		0,0,2203	120.0	117.0	118.0		1784	6.2	1.0	5	dbSNP_134	118	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHOBTB3	NM_014899.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	595/612	95128826	1,13005	2203	4300	6503	SO:0001583	missense	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1784C>T	5.37:g.95128826C>T	ENSP00000369318:p.Ala595Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A595V	ENST00000379982.3	37	c.1784	CCDS4077.1	5	.	.	.	.	.	.	.	.	.	.	C	21.9	4.220119	0.79464	0.0	1.16E-4	ENSG00000164292	ENST00000379982;ENST00000504179	T;T	0.74632	-0.11;-0.86	6.17	6.17	0.99709	.	0.207799	0.51477	D	0.000092	T	0.73450	0.3588	L	0.44542	1.39	0.80722	D	1	D	0.58268	0.982	P	0.44772	0.46	T	0.74711	-0.3573	10	0.54805	T	0.06	-17.23	20.4745	0.99168	0.0:1.0:0.0:0.0	.	595	O94955	RHBT3_HUMAN	V	595;226	ENSP00000369318:A595V;ENSP00000422360:A226V	ENSP00000369318:A595V	A	+	2	0	RHOBTB3	95154582	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	4.662000	0.61525	2.941000	0.99782	0.655000	0.94253	GCG	RHOBTB3	-	NULL		0.363	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95128826	+1	no_errors	ENST00000379982	ensembl	human	known	70_37	missense	SNP	0.998	T
RHPN2	85415	genome.wustl.edu	37	19	33493247	33493247	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:33493247G>A	ENST00000254260.3	-	9	1046	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	RHPN2_ENST00000400226.4_Silent_p.I186I	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	337	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					AGGAGTAGGGGATGTTCTCTT	0.617																																																	0													65.0	65.0	65.0					19																	33493247		2203	4300	6503	SO:0001819	synonymous_variant	85415			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1011C>T	19.37:g.33493247G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.I337	ENST00000254260.3	37	c.1011	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.617	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	G	NM_033103		33493247	-1	no_errors	ENST00000254260	ensembl	human	known	70_37	silent	SNP	0.999	A
RIMS1	22999	genome.wustl.edu	37	6	72678707	72678707	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:72678707G>A	ENST00000521978.1	+	2	186	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RIMS1_ENST00000522291.1_Silent_p.A62A|RIMS1_ENST00000520567.1_Silent_p.A62A|RIMS1_ENST00000491071.2_Silent_p.A62A|RIMS1_ENST00000264839.7_Silent_p.A62A|RIMS1_ENST00000517960.1_Silent_p.A62A|RIMS1_ENST00000518273.1_Silent_p.A62A|RIMS1_ENST00000348717.5_Silent_p.A62A	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	62	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GGGACATGGCGAAGCCTGCTG	0.453																																																	0													128.0	132.0	130.0					6																	72678707		1932	4130	6062	SO:0001819	synonymous_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.186G>A	6.37:g.72678707G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Silent	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.A62	ENST00000521978.1	37	c.186	CCDS47449.1	6																																																																																			RIMS1	-	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain		0.453	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	G			72678707	+1	no_errors	ENST00000521978	ensembl	human	known	70_37	silent	SNP	1.000	A
RIN1	9610	genome.wustl.edu	37	11	66102954	66102954	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:66102954G>A	ENST00000311320.4	-	5	597	c.471C>T	c.(469-471)ctC>ctT	p.L157L	RIN1_ENST00000424433.2_Silent_p.L52L|RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.L52L	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	157	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCTGCAGCGGGAGGAGAAGGA	0.642																																																	0													67.0	58.0	61.0					11																	66102954		2200	4295	6495	SO:0001819	synonymous_variant	9610			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.471C>T	11.37:g.66102954G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O15010|Q00427|Q96CC8	Silent	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.L157	ENST00000311320.4	37	c.471	CCDS31614.1	11																																																																																			RIN1	-	pfscan_SH2		0.642	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	G	NM_004292		66102954	-1	no_errors	ENST00000311320	ensembl	human	known	70_37	silent	SNP	0.987	A
RIOK2	55781	genome.wustl.edu	37	5	96506914	96506914	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:96506914C>G	ENST00000283109.3	-	6	843	c.775G>C	c.(775-777)Gag>Cag	p.E259Q	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.E259Q	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	259							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		ACGTACCACTCAGCATTGGGA	0.358																																																	0													65.0	61.0	63.0					5																	96506914		2203	4300	6503	SO:0001583	missense	55781			AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.775G>C	5.37:g.96506914C>G	ENSP00000283109:p.Glu259Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D6RDI3|Q9NUT0	Missense_Mutation	SNP	pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase	p.E259Q	ENST00000283109.3	37	c.775	CCDS4089.1	5	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779431	0.70107	.	.	ENSG00000058729	ENST00000283109;ENST00000508447	T;T	0.07114	3.22;3.22	5.17	4.29	0.51040	Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.16342	0.0393	L	0.45470	1.425	0.80722	D	1	P;P	0.49696	0.927;0.877	P;P	0.54706	0.759;0.74	T	0.00466	-1.1722	10	0.46703	T	0.11	.	13.7336	0.62804	0.0:0.9231:0.0:0.0769	.	259;259	D6RDI3;Q9BVS4	.;RIOK2_HUMAN	Q	259	ENSP00000283109:E259Q;ENSP00000420932:E259Q	ENSP00000283109:E259Q	E	-	1	0	RIOK2	96532670	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.403000	0.59729	2.417000	0.82017	0.591000	0.81541	GAG	RIOK2	-	pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase		0.358	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK2	HGNC	protein_coding	OTTHUMT00000250628.1	C	NM_018343		96506914	-1	no_errors	ENST00000283109	ensembl	human	known	70_37	missense	SNP	1.000	G
RLN2	6019	genome.wustl.edu	37	9	5300256	5300256	+	Missense_Mutation	SNP	G	G	A	rs372954927		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:5300256G>A	ENST00000381627.3	-	2	788	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	RLN2_ENST00000308420.3_3'UTR	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	134					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGTCTATTGCGAATAAGTTTC	0.388																																																	0								G	CYS/ARG,	0,4406		0,0,2203	115.0	115.0	115.0		400,	0.4	0.0	9		115	1,8599	1.2+/-3.3	0,1,4299	no	missense,utr-3	RLN2	NM_134441.1,NM_005059.2	180,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	134/186,	5300256	1,13005	2203	4300	6503	SO:0001583	missense	6019				CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.400C>T	9.37:g.5300256G>A	ENSP00000371040:p.Arg134Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family	p.R134C	ENST00000381627.3	37	c.400	CCDS6460.1	9	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174366	0.38413	0.0	1.16E-4	ENSG00000107014	ENST00000381627	T	0.54675	0.56	3.48	0.411	0.16392	Insulin-like (3);	2.655290	0.01325	N	0.011073	T	0.59649	0.2209	L	0.51422	1.61	0.09310	N	1	D	0.76494	0.999	P	0.57244	0.816	T	0.36792	-0.9733	10	0.48119	T	0.1	.	3.656	0.08221	0.2522:0.2728:0.475:0.0	.	134	P04090	REL2_HUMAN	C	134	ENSP00000371040:R134C	ENSP00000371040:R134C	R	-	1	0	RLN2	5290256	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.012000	0.13287	0.081000	0.16988	0.650000	0.86243	CGC	RLN2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like		0.388	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN2	HGNC	protein_coding	OTTHUMT00000051619.1	G	NM_134441		5300256	-1	no_errors	ENST00000381627	ensembl	human	known	70_37	missense	SNP	0.000	A
RMND5B	64777	genome.wustl.edu	37	5	177570673	177570673	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:177570673G>C	ENST00000515098.1	+	7	823	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	RMND5B_ENST00000542098.1_Missense_Mutation_p.E145Q|RMND5B_ENST00000313386.4_Missense_Mutation_p.E158Q			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	158	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCTTTCCTAGAGTTGAATCG	0.522																																																	0													116.0	113.0	114.0					5																	177570673		2203	4300	6503	SO:0001583	missense	64777			BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.472G>C	5.37:g.177570673G>C	ENSP00000420875:p.Glu158Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.E158Q	ENST00000515098.1	37	c.472	CCDS4431.1	5	.	.	.	.	.	.	.	.	.	.	G	22.4	4.287525	0.80803	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.15	4.15	0.48705	CTLH, C-terminal LisH motif (2);	0.057784	0.64402	D	0.000002	T	0.74612	0.3739	M	0.73319	2.225	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.77004	0.989;0.982;0.979	T	0.72861	-0.4164	9	0.30854	T	0.27	-26.3928	11.8189	0.52226	0.0:0.0:1.0:0.0	.	145;145;158	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	Q	158;158;145	.	ENSP00000320623:E158Q	E	+	1	0	RMND5B	177503279	1.000000	0.71417	0.999000	0.59377	0.781000	0.44180	8.586000	0.90806	2.153000	0.67306	0.462000	0.41574	GAG	RMND5B	-	smart_CTLH_C,pfscan_CTLH_C		0.522	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RMND5B	HGNC	protein_coding	OTTHUMT00000373542.1	G	NM_022762		177570673	+1	no_errors	ENST00000313386	ensembl	human	known	70_37	missense	SNP	1.000	C
RNASE1	6035	genome.wustl.edu	37	14	21269764	21269764	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21269764G>C	ENST00000397967.4	-	2	970	c.464C>G	c.(463-465)tCt>tGt	p.S155C	RNASE1_ENST00000412779.2_Missense_Mutation_p.S155C|RNASE1_ENST00000340900.3_Missense_Mutation_p.S155C|RNASE1_ENST00000397970.4_Missense_Mutation_p.S155C|RNASE1_ENST00000555698.1_Missense_Mutation_p.S115C	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	155					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	ACCTTAGGTAGAGTCCTCCAC	0.537																																																	0													109.0	95.0	100.0					14																	21269764		2203	4300	6503	SO:0001583	missense	6035			BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"""Ribonucleases, RNase A"""	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.464C>G	14.37:g.21269764G>C	ENSP00000381057:p.Ser155Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.S155C	ENST00000397967.4	37	c.464	CCDS9559.1	14	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077588	0.36662	.	.	ENSG00000129538	ENST00000397967;ENST00000340900;ENST00000412779;ENST00000555698;ENST00000397970	T;T;T;T;T	0.80653	-1.4;-1.4;-1.4;-0.96;-1.4	4.79	1.63	0.23807	.	1.532230	0.03871	N	0.275602	T	0.75561	0.3866	L	0.57536	1.79	0.09310	N	1	P	0.38129	0.619	B	0.35899	0.213	T	0.63314	-0.6665	10	0.87932	D	0	-4.1628	2.7799	0.05358	0.1037:0.1951:0.5249:0.1763	.	155	P07998	RNAS1_HUMAN	C	155;155;155;115;155	ENSP00000381057:S155C;ENSP00000344193:S155C;ENSP00000399493:S155C;ENSP00000451058:S115C;ENSP00000381060:S155C	ENSP00000344193:S155C	S	-	2	0	RNASE1	20339604	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-0.077000	0.11394	0.551000	0.29008	0.650000	0.86243	TCT	RNASE1	-	NULL		0.537	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE1	HGNC	protein_coding	OTTHUMT00000073791.3	G			21269764	-1	no_errors	ENST00000340900	ensembl	human	known	70_37	missense	SNP	0.000	C
RNF111	54778	genome.wustl.edu	37	15	59387098	59387098	+	Nonstop_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59387098G>C	ENST00000557998.1	+	14	3271	c.2984G>C	c.(2983-2985)tGa>tCa	p.*995S	RNF111_ENST00000561186.1_Nonstop_Mutation_p.*1004S|RNF111_ENST00000560080.1_3'UTR|RNF111_ENST00000348370.4_Nonstop_Mutation_p.*987S|RNF111_ENST00000434298.1_Nonstop_Mutation_p.*1004S|RNF111_ENST00000559209.1_Nonstop_Mutation_p.*996S	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	0					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AGTGAAAGTTGACACCATGTT	0.488																																					NSCLC(72;983 1365 10746 34387 47081)												0													225.0	200.0	208.0					15																	59387098		2191	4291	6482	SO:0001578	stop_lost	54778			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.2984G>C	15.37:g.59387098G>C	ENSP00000452732:p.*995Serext*57	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonstop_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.*1004S	ENST00000557998.1	37	c.3011	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177684	0.38413	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	.	.	.	S	987;1004	.	.	X	+	2	2	RNF111	57174390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.062000	0.89475	2.666000	0.90696	0.563000	0.77884	TGA	RNF111	-	NULL		0.488	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	HGNC	protein_coding	OTTHUMT00000416012.1	G	NM_017610		59387098	+1	no_errors	ENST00000434298	ensembl	human	known	70_37	nonstop	SNP	1.000	C
RNF112	7732	genome.wustl.edu	37	17	19318606	19318606	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:19318606C>G	ENST00000461366.1	+	12	1519	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	435						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)	p.S436*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CAGAACCTCTCAGGATGGATG	0.627																																																	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											21.0	24.0	23.0					17																	19318606		1924	4115	6039	SO:0001587	stop_gained	7732			AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.1304C>G	17.37:g.19318606C>G	ENSP00000454919:p.Ser435*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60633|Q7Z5V9	Nonsense_Mutation	SNP	pfam_Guanylate-bd_N,smart_Znf_RING,pfscan_Znf_RING	p.S435*	ENST00000461366.1	37	c.1304	CCDS58529.1	17																																																																																			RNF112	-	NULL		0.627	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	HGNC	protein_coding	OTTHUMT00000132549.4	C	NM_007148		19318606	+1	no_errors	ENST00000461366	ensembl	human	novel	70_37	nonsense	SNP	0.634	G
RNF126P1	376412	genome.wustl.edu	37	17	55123846	55123846	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:55123846G>C	ENST00000567452.1	+	0	1008					NR_002818.2				ring finger protein 126 pseudogene 1																		CGCTGCGCCTGAGGCTGCGGG	0.692																																																	0																																												376412			BC033555		17q23.2	2004-04-22				ENSG00000261192		"""RING-type (C3HC4) zinc fingers"""	30340	pseudogene	pseudogene						12477932	Standard	NR_002818		Approved		uc002iuw.3				17.37:g.55123846G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567452.1	37	NULL		17																																																																																			RNF126P1	-	-		0.692	RNF126P1-002	KNOWN	basic	processed_transcript	RNF126P1	HGNC	pseudogene	OTTHUMT00000431453.1	G			55123846	+1	no_errors	ENST00000567452	ensembl	human	known	70_37	rna	SNP	0.091	C
RNF14	9604	genome.wustl.edu	37	5	141363115	141363115	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:141363115G>C	ENST00000394520.2	+	7	1543	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	RNF14_ENST00000356143.1_Missense_Mutation_p.E412Q|RNF14_ENST00000394519.1_Missense_Mutation_p.E412Q|RNF14_ENST00000394514.2_Missense_Mutation_p.E286Q|RNF14_ENST00000347642.3_Missense_Mutation_p.E412Q|RNF14_ENST00000540015.1_Missense_Mutation_p.E109Q|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Missense_Mutation_p.E236Q	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	412	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AACTCCCATAGAGGTAAATGT	0.418																																																	0													57.0	60.0	59.0					5																	141363115		2203	4300	6503	SO:0001583	missense	9604			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1234G>C	5.37:g.141363115G>C	ENSP00000378028:p.Glu412Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.E412Q	ENST00000394520.2	37	c.1234	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845222	0.32606	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	6.01	4.2	0.49525	Zinc finger, C6HC-type (2);	0.100187	0.64402	N	0.000001	T	0.56396	0.1982	N	0.26092	0.79	0.45139	D	0.998159	P;B;B	0.43231	0.801;0.232;0.013	P;B;B	0.46585	0.521;0.206;0.122	T	0.49826	-0.8898	10	0.22109	T	0.4	.	17.0363	0.86477	0.0:0.298:0.702:0.0	.	109;236;412	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	Q	412;412;412;109;286;109;236;412	ENSP00000348462:E412Q;ENSP00000378028:E412Q;ENSP00000324956:E412Q;ENSP00000442490:E109Q;ENSP00000378022:E286Q;ENSP00000426832:E109Q;ENSP00000378023:E236Q;ENSP00000378027:E412Q	ENSP00000324956:E412Q	E	+	1	0	RNF14	141343299	1.000000	0.71417	0.989000	0.46669	0.971000	0.66376	3.829000	0.55760	0.834000	0.34852	0.650000	0.86243	GAG	RNF14	-	pfam_Znf_C6HC,smart_Znf_C6HC		0.418	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	G	NM_004290		141363115	+1	no_errors	ENST00000347642	ensembl	human	known	70_37	missense	SNP	0.999	C
RNF40	9810	genome.wustl.edu	37	16	30779554	30779554	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30779554G>C	ENST00000324685.6	+	13	2117	c.1682G>C	c.(1681-1683)aGa>aCa	p.R561T	RNF40_ENST00000402121.3_Missense_Mutation_p.R253T|RNF40_ENST00000357890.5_Missense_Mutation_p.R461T|RNF40_ENST00000563683.1_Missense_Mutation_p.R521T	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	561					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCCGACAACAGAAAGGAGATG	0.612																																																	0													41.0	45.0	44.0					16																	30779554		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1682G>C	16.37:g.30779554G>C	ENSP00000325677:p.Arg561Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R561T	ENST00000324685.6	37	c.1682	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	G	0.373	-0.932820	0.02359	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.29142	1.58;1.59;1.58	5.23	3.14	0.36123	.	0.376502	0.28257	N	0.016013	T	0.11580	0.0282	N	0.03608	-0.345	0.19300	N	0.999977	B;B;B;B	0.13145	0.002;0.007;0.004;0.004	B;B;B;B	0.15484	0.004;0.013;0.006;0.006	T	0.25676	-1.0125	10	0.17369	T	0.5	-15.8012	7.399	0.26952	0.271:0.0:0.729:0.0	.	253;461;561;561	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	T	561;461;253	ENSP00000325677:R561T;ENSP00000350563:R461T;ENSP00000384942:R253T	ENSP00000325677:R561T	R	+	2	0	RNF40	30687055	0.357000	0.24938	0.952000	0.39060	0.123000	0.20343	1.542000	0.36137	1.418000	0.47098	0.655000	0.94253	AGA	RNF40	-	NULL		0.612	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	G	NM_014771		30779554	+1	no_errors	ENST00000324685	ensembl	human	known	70_37	missense	SNP	0.534	C
RNF41	10193	genome.wustl.edu	37	12	56600311	56600311	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56600311C>T	ENST00000345093.4	-	7	1243	c.874G>A	c.(874-876)Gag>Aag	p.E292K	RNF41_ENST00000552656.1_Missense_Mutation_p.E292K|RNF41_ENST00000394013.2_Missense_Mutation_p.E221K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	292					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TGCTGGTTCTCACAGGCCATC	0.527											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													209.0	173.0	185.0					12																	56600311		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.874G>A	12.37:g.56600311C>T	ENSP00000342755:p.Glu292Lys	Somatic	1016	WXS	Illumina HiSeq	Phase_IV	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E292K	ENST00000345093.4	37	c.874	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.599477	0.96614	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656	T;T	0.10573	2.86;2.86	5.21	5.21	0.72293	USP8 interacting (1);	0.173195	0.53938	D	0.000057	T	0.26011	0.0634	L	0.47716	1.5	0.80722	D	1	D;D	0.63880	0.993;0.983	P;P	0.61874	0.891;0.895	T	0.00324	-1.1817	10	0.87932	D	0	-14.8601	17.9232	0.88973	0.0:1.0:0.0:0.0	.	279;292	B4E353;Q9H4P4	.;RNF41_HUMAN	K	292;221;279;292	ENSP00000342755:E292K;ENSP00000447303:E292K	ENSP00000342755:E292K	E	-	1	0	RNF41	54886578	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.759000	0.85235	2.606000	0.88127	0.655000	0.94253	GAG	RNF41	-	pfam_USP8_interacting		0.527	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56600311	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	T
RNPEP	6051	genome.wustl.edu	37	1	201970888	201970888	+	Silent	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:201970888C>A	ENST00000295640.4	+	8	1462	c.1419C>A	c.(1417-1419)atC>atA	p.I473I	RNPEP_ENST00000367286.3_Silent_p.I434I|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	473					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAGTGGATATCATTCCAGGTA	0.423																																					GBM(19;39 479 7473 13131 19462)												0													89.0	92.0	91.0					1																	201970888		2203	4300	6503	SO:0001819	synonymous_variant	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1419C>A	1.37:g.201970888C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BVM9|Q9H1D4|Q9NPT7	Silent	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.I473	ENST00000295640.4	37	c.1419	CCDS1418.1	1																																																																																			RNPEP	-	NULL		0.423	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNPEP	HGNC	protein_coding	OTTHUMT00000087345.1	C	NM_020216		201970888	+1	no_errors	ENST00000295640	ensembl	human	known	70_37	silent	SNP	0.994	A
ROCK2	9475	genome.wustl.edu	37	2	11356289	11356289	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:11356289C>G	ENST00000315872.6	-	13	1904	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.E243Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	486	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTACCTCCTCTTCTAGCTCC	0.323																																																	0													91.0	87.0	88.0					2																	11356289		1799	4066	5865	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1456G>C	2.37:g.11356289C>G	ENSP00000317985:p.Glu486Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E486Q	ENST00000315872.6	37	c.1456	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559922	0.65538	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	D;D	0.83914	-1.78;-1.78	5.67	5.67	0.87782	.	0.048392	0.85682	D	0.000000	D	0.84538	0.5494	M	0.65498	2.005	0.50632	D	0.999881	B	0.28605	0.217	B	0.36186	0.219	T	0.80228	-0.1469	10	0.25751	T	0.34	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	486	O75116	ROCK2_HUMAN	Q	486;243	ENSP00000317985:E486Q;ENSP00000385509:E243Q	ENSP00000317985:E486Q	E	-	1	0	ROCK2	11273740	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	2.953000	0.49105	2.679000	0.91253	0.591000	0.81541	GAG	ROCK2	-	pirsf_Rho-assoc_coiled-coil_kin		0.323	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	C			11356289	-1	no_errors	ENST00000315872	ensembl	human	known	70_37	missense	SNP	1.000	G
ROPN1B	152015	genome.wustl.edu	37	3	125702118	125702118	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:125702118C>G	ENST00000514116.1	+	7	909	c.594C>G	c.(592-594)atC>atG	p.I198M	ROPN1B_ENST00000251776.4_Missense_Mutation_p.I198M|ROPN1B_ENST00000511082.1_Missense_Mutation_p.I106M|ROPN1B_ENST00000505382.1_Missense_Mutation_p.I106M			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	198					acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		ATGGTTTAATCACGGTGAATG	0.368																																																	0													135.0	124.0	128.0					3																	125702118		2203	4300	6503	SO:0001583	missense	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.594C>G	3.37:g.125702118C>G	ENSP00000426271:p.Ile198Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNA6|Q96BM7	Missense_Mutation	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	p.I198M	ENST00000514116.1	37	c.594	CCDS33841.1	3	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649782	0.29336	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000505382;ENST00000511082	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	2.16	2.16	0.27623	.	0.175092	0.41712	D	0.000832	T	0.35508	0.0934	L	0.57536	1.79	0.28053	N	0.933285	D	0.60575	0.988	D	0.69654	0.965	T	0.03503	-1.1030	10	0.87932	D	0	-12.1279	7.9327	0.29912	0.0:1.0:0.0:0.0	.	198	Q9BZX4	ROP1B_HUMAN	M	198;198;106;106	ENSP00000426271:I198M;ENSP00000251776:I198M;ENSP00000421662:I106M;ENSP00000424447:I106M	ENSP00000251776:I198M	I	+	3	3	ROPN1B	127184808	1.000000	0.71417	0.999000	0.59377	0.476000	0.33039	2.465000	0.45075	1.514000	0.48869	0.454000	0.30748	ATC	ROPN1B	-	NULL		0.368	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ROPN1B	HGNC	protein_coding	OTTHUMT00000369931.1	C	NM_001012337		125702118	+1	no_errors	ENST00000251776	ensembl	human	known	70_37	missense	SNP	1.000	G
RPA1	6117	genome.wustl.edu	37	17	1798302	1798302	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:1798302G>A	ENST00000254719.5	+	16	1769		c.e16-1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGTTTTTGCAGAATGAACAGG	0.393								Nucleotide excision repair (NER)																																									0													176.0	185.0	182.0					17																	1798302		2203	4300	6503	SO:0001630	splice_region_variant	6117			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1660-1G>A	17.37:g.1798302G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Y9|Q59ES9	Splice_Site	SNP	-	e16-1	ENST00000254719.5	37	c.1660-1	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300170	0.81136	.	.	ENSG00000132383	ENST00000254719	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.739	0.91767	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RPA1	1745052	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.431000	0.97494	2.664000	0.90586	0.650000	0.86243	.	RPA1	-	-		0.393	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	G	NM_002945	Intron	1798302	+1	no_errors	ENST00000254719	ensembl	human	known	70_37	splice_site	SNP	1.000	A
RPAP2	79871	genome.wustl.edu	37	1	92789379	92789379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:92789379C>A	ENST00000610020.1	+	8	1011	c.902C>A	c.(901-903)tCa>tAa	p.S301*	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	301					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGAGTTCTTCAAATAGCACT	0.363																																																	0													74.0	81.0	78.0					1																	92789379		2203	4299	6502	SO:0001587	stop_gained	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.902C>A	1.37:g.92789379C>A	ENSP00000476948:p.Ser301*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JKB5|Q49AS7|Q9H8Y2	Nonsense_Mutation	SNP	pfam_DUF408	p.S301*	ENST00000610020.1	37	c.902	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353074	0.24512	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	6.07	3.2	0.36748	.	0.785613	0.12496	N	0.463772	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5981	9.5299	0.39187	0.0:0.727:0.0:0.273	.	.	.	.	X	301	.	ENSP00000359368:S301X	S	+	2	0	RPAP2	92561967	0.210000	0.23517	0.955000	0.39395	0.041000	0.13682	0.859000	0.27858	0.907000	0.36646	-0.140000	0.14226	TCA	RPAP2	-	NULL		0.363	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	C	NM_024813		92789379	+1	no_errors	ENST00000370343	ensembl	human	known	70_37	nonsense	SNP	0.035	A
RPGR	6103	genome.wustl.edu	37	X	38146058	38146058	+	Intron	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:38146058C>A	ENST00000339363.3	-	14	2688				RPGR_ENST00000378505.2_Nonsense_Mutation_p.E732*|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000309513.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tgctcctcctcccctccctcc	0.532																																																	0													170.0	101.0	124.0					X																	38146058		2131	4209	6340	SO:0001627	intron_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+288G>T	X.37:g.38146058C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E732*	ENST00000339363.3	37	c.2194		X	.	.	.	.	.	.	.	.	.	.	c	36	5.692335	0.96793	.	.	ENSG00000156313	ENST00000378505	.	.	.	2.37	1.46	0.22682	.	0.876252	0.08709	U	0.905204	.	.	.	.	.	.	0.21290	N	0.999739	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	8.2261	0.31570	0.0:0.8622:0.0:0.1378	.	.	.	.	X	732	.	ENSP00000367766:E732X	E	-	1	0	RPGR	38031002	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.806000	0.01735	0.238000	0.21222	0.353000	0.21931	GAG	RPGR	-	NULL		0.532	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38146058	-1	no_errors	ENST00000378505	ensembl	human	known	70_37	nonsense	SNP	0.002	A
RPGRIP1	57096	genome.wustl.edu	37	14	21771580	21771580	+	Missense_Mutation	SNP	C	C	G	rs368948798		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21771580C>G	ENST00000400017.2	+	5	678	c.678C>G	c.(676-678)atC>atG	p.I226M	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.I199M|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.I199M|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.I226M	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	226					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GTGCCCACATCATGGCCAGCA	0.423																																																	0													68.0	65.0	66.0					14																	21771580		1933	4151	6084	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.678C>G	14.37:g.21771580C>G	ENSP00000382895:p.Ile226Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.I226M	ENST00000400017.2	37	c.678	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	C	6.165	0.398599	0.11696	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.92	1.05	0.20165	.	1.052910	0.07376	N	0.886615	T	0.23611	0.0571	L	0.43152	1.355	0.09310	N	1	P	0.45902	0.868	B	0.39805	0.31	T	0.18935	-1.0321	10	0.59425	D	0.04	-0.024	3.1102	0.06356	0.1763:0.203:0.0:0.6207	.	226	Q96KN7	RPGR1_HUMAN	M	199;199;226;226	ENSP00000450445:I199M;ENSP00000451219:I199M;ENSP00000382895:I226M;ENSP00000206660:I226M	ENSP00000206660:I226M	I	+	3	3	RPGRIP1	20841420	0.090000	0.21635	0.000000	0.03702	0.151000	0.21798	0.136000	0.15974	0.020000	0.15106	-0.302000	0.09304	ATC	RPGRIP1	-	NULL		0.423	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	C	NM_020366		21771580	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	0.004	G
RPGRIP1	57096	genome.wustl.edu	37	14	21789513	21789513	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21789513G>C	ENST00000400017.2	+	12	1563	c.1563G>C	c.(1561-1563)aaG>aaC	p.K521N	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.K494N|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.K494N|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.K521N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.K163N	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	521					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AACTAGAAAAGACCAGGGACA	0.458																																																	0													132.0	121.0	124.0					14																	21789513		1936	4152	6088	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1563G>C	14.37:g.21789513G>C	ENSP00000382895:p.Lys521Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.K521N	ENST00000400017.2	37	c.1563	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502851	0.64298	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933	D;D;D;D;D	0.90620	-2.49;-2.22;-2.15;-2.15;-2.7	5.12	3.26	0.37387	.	0.000000	0.85682	D	0.000000	D	0.93913	0.8052	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.92352	0.5890	10	0.56958	D	0.05	-31.5447	6.6707	0.23066	0.2909:0.0:0.7091:0.0	.	163;137;521	Q96KN7-4;Q96KN7-5;Q96KN7	.;.;RPGR1_HUMAN	N	494;494;521;521;163	ENSP00000450445:K494N;ENSP00000451219:K494N;ENSP00000382895:K521N;ENSP00000206660:K521N;ENSP00000372391:K163N	ENSP00000206660:K521N	K	+	3	2	RPGRIP1	20859353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.783000	0.55409	0.828000	0.34709	0.650000	0.86243	AAG	RPGRIP1	-	NULL		0.458	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	G	NM_020366		21789513	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	1.000	C
RPL13AP3	645683	genome.wustl.edu	37	14	56233559	56233559	+	lincRNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:56233559C>G	ENST00000554458.1	+	0	75				RPL13AP3_ENST00000494676.1_RNA																							TGCCCTTCCTCCGTCGTCGCC	0.567																																																	0																																												645683																															14.37:g.56233559C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000554458.1	37	NULL		14																																																																																			RPL13AP3	-	-		0.567	RP11-813I20.2-001	KNOWN	basic	lincRNA	RPL13AP3	HGNC	lincRNA	OTTHUMT00000411474.1	C			56233559	+1	no_errors	ENST00000494676	ensembl	human	known	70_37	rna	SNP	0.121	G
RPL35	11224	genome.wustl.edu	37	9	127622541	127622541	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:127622541C>T	ENST00000348462.3	-	3	191	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	ARPC5L_ENST00000353214.2_5'Flank|RPL35_ENST00000373570.4_Missense_Mutation_p.R48Q	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	48					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		CCGGACGACTCGGCTACAAAA	0.488																																																	0													79.0	78.0	79.0					9																	127622541		2203	4300	6503	SO:0001583	missense	11224			U12465	CCDS6858.1	9q34.1	2011-04-06			ENSG00000136942	ENSG00000136942		"""L ribosomal proteins"""	10344	protein-coding gene	gene with protein product	"""60S ribosomal protein L35"""					11401437	Standard	NM_007209		Approved	L35	uc004boy.1	P42766	OTTHUMG00000020659	ENST00000348462.3:c.143G>A	9.37:g.127622541C>T	ENSP00000259469:p.Arg48Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4V7|Q4VBY5|Q5JTN5|Q6IBC7|Q96QJ7|Q9BYF4	Missense_Mutation	SNP	pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29	p.R48Q	ENST00000348462.3	37	c.143	CCDS6858.1	9	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019405	0.54576	.	.	ENSG00000136942	ENST00000348462	.	.	.	5.29	4.38	0.52667	Ribosomal protein L29, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.85197	2.74	0.80722	D	1	B	0.25105	0.118	B	0.28991	0.097	T	0.73030	-0.4111	9	0.54805	T	0.06	.	14.9498	0.71064	0.0:0.8561:0.1439:0.0	.	48	P42766	RL35_HUMAN	Q	48	.	ENSP00000259469:R48Q	R	-	2	0	RPL35	126662362	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.333000	0.79214	1.331000	0.45412	0.561000	0.74099	CGA	RPL35	-	pfam_Ribosomal_L29,superfamily_Ribosomal_L29,tigrfam_Ribosomal_L29		0.488	RPL35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL35	HGNC	protein_coding	OTTHUMT00000054035.1	C	NM_007209		127622541	-1	no_errors	ENST00000348462	ensembl	human	known	70_37	missense	SNP	1.000	T
RPL4	6124	genome.wustl.edu	37	15	66792466	66792466	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:66792466C>G	ENST00000307961.6	-	9	1058	c.966G>C	c.(964-966)ttG>ttC	p.L322F	SNORD16_ENST00000362803.1_RNA|SNAPC5_ENST00000307979.7_5'Flank|SNAPC5_ENST00000566658.1_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.L228F|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000316634.5_5'Flank|SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	322					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						ACATGATTCTCAAGTTTTTCA	0.393																																																	0													104.0	94.0	97.0					15																	66792466		2201	4299	6500	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.966G>C	15.37:g.66792466C>G	ENSP00000311430:p.Leu322Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom	p.L322F	ENST00000307961.6	37	c.966	CCDS10218.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232952|2.232952	0.39498|0.39498	.|.	.|.	ENSG00000174444|ENSG00000174444	ENST00000449253|ENST00000307961;ENST00000432669	.|.	.|.	.|.	5.27|5.27	3.35|3.35	0.38373|0.38373	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.54854|0.54854	0.1884|0.1884	M|M	0.62016|0.62016	1.91|1.91	0.54753|0.54753	D|D	0.999989|0.999989	.|B	.|0.17038	.|0.02	.|B	.|0.17979	.|0.02	T|T	0.45396|0.45396	-0.9264|-0.9264	6|9	0.49607|0.15066	T|T	0.09|0.55	-5.4162|-5.4162	10.8529|10.8529	0.46780|0.46780	0.0:0.7983:0.1307:0.071|0.0:0.7983:0.1307:0.071	.|.	.|322	.|P36578	.|RL4_HUMAN	Q|F	122|322	.|.	ENSP00000403183:E122Q|ENSP00000311430:L322F	E|L	-|-	1|3	0|2	RPL4|RPL4	64579520|64579520	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.865000|1.865000	0.39479|0.39479	0.580000|0.580000	0.29522|0.29522	0.655000|0.655000	0.94253|0.94253	GAG|TTG	RPL4	-	NULL		0.393	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	HGNC	protein_coding	OTTHUMT00000256903.2	C	NM_000968		66792466	-1	no_errors	ENST00000307961	ensembl	human	known	70_37	missense	SNP	1.000	G
RPL7A	6130	genome.wustl.edu	37	9	136215803	136215803	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:136215803G>C	ENST00000323345.6	+	2	60	c.30G>C	c.(28-30)aaG>aaC	p.K10N	MED22_ENST00000371999.1_5'Flank|SNORD36A_ENST00000362874.1_RNA|MED22_ENST00000344469.5_5'Flank|RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_5'UTR|MED22_ENST00000491289.1_5'Flank|MED22_ENST00000343730.5_5'Flank|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000471524.1_5'Flank|SURF1_ENST00000495952.1_5'Flank|SNORD36B_ENST00000363961.1_RNA|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000476080.1_5'Flank	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CCAAGGGAAAGAAGGTGGCTC	0.547																																																	0													45.0	50.0	48.0					9																	136215803		2203	4300	6503	SO:0001583	missense	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.30G>C	9.37:g.136215803G>C	ENSP00000361076:p.Lys10Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P11518|Q5T8U4	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.K10N	ENST00000323345.6	37	c.30	CCDS6965.1	9	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157860	0.57368	.	.	ENSG00000148303	ENST00000323345;ENST00000426651	T;T	0.60920	0.15;0.47	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.79011	2.435	0.80722	D	1	P	0.51653	0.947	D	0.67231	0.95	T	0.79674	-0.1705	10	0.66056	D	0.02	.	15.9344	0.79691	0.0:0.0:1.0:0.0	.	10	P62424	RL7A_HUMAN	N	10;37	ENSP00000361076:K10N;ENSP00000416638:K37N	ENSP00000361076:K10N	K	+	3	2	RPL7A	135205624	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	9.036000	0.93758	2.009000	0.58944	0.313000	0.20887	AAG	RPL7A	-	NULL		0.547	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	G	NM_000972		136215803	+1	no_errors	ENST00000323345	ensembl	human	known	70_37	missense	SNP	1.000	C
RPS6KA2	6196	genome.wustl.edu	37	6	166827357	166827357	+	Silent	SNP	G	G	A	rs200027480		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:166827357G>A	ENST00000265678.4	-	20	2224	c.2001C>T	c.(1999-2001)ctC>ctT	p.L667L	RPS6KA2_ENST00000481261.2_Silent_p.L578L|RPS6KA2_ENST00000405189.3_Silent_p.L578L|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.L675L|RPS6KA2_ENST00000510118.1_Silent_p.L692L	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	667	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACGGGTGTTTGAGCACTTGCA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18501	0.0		0.001	False		,,,				2504	0.0																0													102.0	82.0	89.0					6																	166827357		2203	4300	6503	SO:0001819	synonymous_variant	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2001C>T	6.37:g.166827357G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L692	ENST00000265678.4	37	c.2076	CCDS5294.1	6																																																																																			RPS6KA2	-	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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.612	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166827357	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	silent	SNP	0.933	A
RPTOR	57521	genome.wustl.edu	37	17	78796982	78796982	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:78796982C>T	ENST00000306801.3	+	9	1457	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000570891.1_Silent_p.V365V|RPTOR_ENST00000537330.1_Silent_p.V180V|RPTOR_ENST00000544334.2_Silent_p.V365V	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	365					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCACTCCCGTCAGCAGCCCGC	0.552																																																	0													95.0	98.0	97.0					17																	78796982		2203	4300	6503	SO:0001819	synonymous_variant	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.1095C>T	17.37:g.78796982C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.V365	ENST00000306801.3	37	c.1095	CCDS11773.1	17																																																																																			RPTOR	-	NULL		0.552	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	C	NM_020761		78796982	+1	no_errors	ENST00000306801	ensembl	human	known	70_37	silent	SNP	1.000	T
RQCD1	9125	genome.wustl.edu	37	2	219445325	219445325	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:219445325C>G	ENST00000273064.6	+	2	441	c.66C>G	c.(64-66)atC>atG	p.I22M	RQCD1_ENST00000542068.1_Missense_Mutation_p.I22M|RQCD1_ENST00000295701.5_Missense_Mutation_p.I22M|RQCD1_ENST00000509807.2_Missense_Mutation_p.I22M	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	22					cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGAAAAGATCTATCAGTGGA	0.438																																																	0													126.0	112.0	117.0					2																	219445325		2203	4300	6503	SO:0001583	missense	9125			D87957	CCDS33379.1, CCDS63123.1	2q35	2010-04-23	2001-11-28		ENSG00000144580	ENSG00000144580			10445	protein-coding gene	gene with protein product	"""cancer/testis antigen 129"""	612054	"""rcd1 (required for cell differentiation, S.pombe) homolog 1"""			9447985	Standard	NM_001271634		Approved	RCD1, RCD1+, CNOT9, CT129	uc010zki.3	Q92600	OTTHUMG00000154750	ENST00000273064.6:c.66C>G	2.37:g.219445325C>G	ENSP00000273064:p.Ile22Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPI0|B5MDQ4|B7Z1E5|Q96IX4	Missense_Mutation	SNP	pfam_Cell_differentiation_Rcd1,superfamily_ARM-type_fold	p.I22M	ENST00000273064.6	37	c.66	CCDS33379.1	2	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039790	0.35989	.	.	ENSG00000144580	ENST00000273064;ENST00000509807;ENST00000542068;ENST00000295701	T;T;T;T	0.51325	0.71;1.33;0.71;0.75	5.75	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.35682	0.0940	L	0.39147	1.195	0.80722	D	1	B;B;B	0.29552	0.248;0.029;0.029	B;B;B	0.25140	0.058;0.03;0.03	T	0.11421	-1.0588	10	0.40728	T	0.16	-2.4346	9.2454	0.37523	0.2625:0.6702:0.0:0.0674	.	22;22;22	B7Z1E5;Q92600;B5MDQ4	.;RCD1_HUMAN;.	M	22	ENSP00000273064:I22M;ENSP00000441357:I22M;ENSP00000443687:I22M;ENSP00000295701:I22M	ENSP00000273064:I22M	I	+	3	3	RQCD1	219153569	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.293000	0.51779	0.737000	0.32582	0.655000	0.94253	ATC	RQCD1	-	NULL		0.438	RQCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RQCD1	HGNC	protein_coding	OTTHUMT00000336920.1	C	NM_005444		219445325	+1	no_errors	ENST00000509807	ensembl	human	known	70_37	missense	SNP	1.000	G
RRAD	6236	genome.wustl.edu	37	16	66957536	66957536	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:66957536C>G	ENST00000299759.6	-	4	782	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	RRAD_ENST00000420652.1_Missense_Mutation_p.E178Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	178					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GAGGCCTTCTCGAAGCTGCCC	0.622																																																	0													124.0	107.0	113.0					16																	66957536		2200	4300	6500	SO:0001583	missense	6236			L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.532G>C	16.37:g.66957536C>G	ENSP00000299759:p.Glu178Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96F39	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E178Q	ENST00000299759.6	37	c.532	CCDS10824.1	16	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914378	0.92178	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	T;T	0.78003	-1.14;-1.14	4.81	4.81	0.61882	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82727	-0.0314	10	0.30078	T	0.28	.	18.2596	0.90030	0.0:1.0:0.0:0.0	.	178	P55042	RAD_HUMAN	Q	178	ENSP00000388744:E178Q;ENSP00000299759:E178Q	ENSP00000299759:E178Q	E	-	1	0	RRAD	65515037	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.818000	0.86416	2.375000	0.81037	0.561000	0.74099	GAG	RRAD	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom		0.622	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAD	HGNC	protein_coding	OTTHUMT00000268830.1	C	NM_004165		66957536	-1	no_errors	ENST00000299759	ensembl	human	known	70_37	missense	SNP	1.000	G
RRP1B	23076	genome.wustl.edu	37	21	45103223	45103223	+	Missense_Mutation	SNP	G	G	T	rs140107577		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:45103223G>T	ENST00000340648.4	+	9	977	c.860G>T	c.(859-861)gGa>gTa	p.G287V		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	287					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GATGACTGTGGAACCTTTGAG	0.428																																																	0													95.0	88.0	91.0					21																	45103223		2203	4300	6503	SO:0001583	missense	23076			AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.860G>T	21.37:g.45103223G>T	ENSP00000339145:p.Gly287Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBZ4	Missense_Mutation	SNP	pfam_Nop52	p.G287V	ENST00000340648.4	37	c.860	CCDS33577.1	21	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797990	0.31777	.	.	ENSG00000160208	ENST00000340648	T	0.35048	1.33	5.02	1.72	0.24424	.	1.880440	0.02257	N	0.067234	T	0.32645	0.0836	L	0.48642	1.525	0.09310	N	1	P	0.46706	0.883	B	0.37650	0.255	T	0.32693	-0.9897	10	0.87932	D	0	-1.9988	6.4771	0.22043	0.0:0.257:0.4167:0.3264	.	287	Q14684	RRP1B_HUMAN	V	287	ENSP00000339145:G287V	ENSP00000339145:G287V	G	+	2	0	RRP1B	43927651	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	0.862000	0.27899	0.384000	0.24942	0.644000	0.83932	GGA	RRP1B	-	NULL		0.428	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP1B	HGNC	protein_coding	OTTHUMT00000195651.1	G	NM_015056		45103223	+1	no_errors	ENST00000340648	ensembl	human	known	70_37	missense	SNP	0.001	T
RTN4	57142	genome.wustl.edu	37	2	55253525	55253525	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:55253525C>G	ENST00000337526.6	-	3	1953	c.1710G>C	c.(1708-1710)aaG>aaC	p.K570N	RTN4_ENST00000405240.1_Missense_Mutation_p.K364N|RTN4_ENST00000404909.1_Missense_Mutation_p.K364N|RTN4_ENST00000354474.6_Missense_Mutation_p.K338N|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.K364N|RTN4_ENST00000394611.2_Missense_Mutation_p.K364N|RTN4_ENST00000357732.4_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	570					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATAAGCAATCTTTGTACCAG	0.423																																																	0													105.0	94.0	98.0					2																	55253525		2203	4300	6503	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1710G>C	2.37:g.55253525C>G	ENSP00000337838:p.Lys570Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.K570N	ENST00000337526.6	37	c.1710	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441102	0.43326	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;1.12	5.85	0.287	0.15714	.	0.000000	0.64402	D	0.000001	T	0.58821	0.2149	M	0.71581	2.175	0.32313	N	0.563467	D	0.76494	0.999	D	0.80764	0.994	T	0.67719	-0.5598	10	0.87932	D	0	-16.2158	11.7665	0.51933	0.0:0.563:0.0:0.437	.	570	Q9NQC3	RTN4_HUMAN	N	364;364;570;364;364;338	ENSP00000384471:K364N;ENSP00000349944:K364N;ENSP00000337838:K570N;ENSP00000378109:K364N;ENSP00000385650:K364N;ENSP00000346465:K338N	ENSP00000337838:K570N	K	-	3	2	RTN4	55107029	0.028000	0.19301	0.310000	0.25168	0.994000	0.84299	-0.464000	0.06688	0.097000	0.17492	0.585000	0.79938	AAG	RTN4	-	NULL		0.423	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	C			55253525	-1	no_errors	ENST00000337526	ensembl	human	known	70_37	missense	SNP	0.505	G
RTTN	25914	genome.wustl.edu	37	18	67781755	67781755	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:67781755G>A	ENST00000255674.6	-	27	3895	c.3609C>T	c.(3607-3609)gtC>gtT	p.V1203V	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.V1203V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1203					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GTTGTTGCCTGACAGCAGTCC	0.398																																																	0													128.0	120.0	123.0					18																	67781755		1873	4122	5995	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3609C>T	18.37:g.67781755G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.V1203	ENST00000255674.6	37	c.3609	CCDS42443.1	18																																																																																			RTTN	-	NULL		0.398	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67781755	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	silent	SNP	1.000	A
RUSC2	9853	genome.wustl.edu	37	9	35560361	35560361	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:35560361G>C	ENST00000455600.1	+	10	4293	c.3724G>C	c.(3724-3726)Gag>Cag	p.E1242Q	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1242	Poly-Glu.					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)			agaagaggaagaggaagaaga	0.697																																																	0													21.0	26.0	24.0					9																	35560361		2200	4287	6487	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.3724G>C	9.37:g.35560361G>C	ENSP00000393922:p.Glu1242Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E1242Q	ENST00000455600.1	37	c.3724	CCDS35008.1	9	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491444	0.44249	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.24538	1.85;1.85	5.41	5.41	0.78517	.	0.305491	0.37393	N	0.002103	T	0.32010	0.0815	L	0.27053	0.805	0.33139	D	0.544093	D	0.63880	0.993	P	0.55508	0.777	T	0.18999	-1.0319	10	0.25106	T	0.35	.	18.177	0.89764	0.0:0.0:1.0:0.0	.	1242	Q8N2Y8	RUSC2_HUMAN	Q	1242	ENSP00000355177:E1242Q;ENSP00000393922:E1242Q	ENSP00000355177:E1242Q	E	+	1	0	RUSC2	35550361	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.872000	0.56085	2.534000	0.85438	0.561000	0.74099	GAG	RUSC2	-	NULL		0.697	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RUSC2	HGNC	protein_coding	OTTHUMT00000052309.1	G	XM_048462		35560361	+1	no_errors	ENST00000361226	ensembl	human	known	70_37	missense	SNP	0.995	C
RYR1	6261	genome.wustl.edu	37	19	38949865	38949865	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38949865C>T	ENST00000359596.3	+	19	2247	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	RYR1_ENST00000355481.4_Silent_p.L749L|RYR1_ENST00000360985.3_Silent_p.L749L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	749	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCTGGACCTCAGCGTGCCGT	0.612																																																	0													117.0	93.0	101.0					19																	38949865		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2247C>T	19.37:g.38949865C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L749	ENST00000359596.3	37	c.2247	CCDS33011.1	19																																																																																			RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	C			38949865	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	0.885	T
SAGE1	55511	genome.wustl.edu	37	X	134989560	134989560	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:134989560G>A	ENST00000370709.3	+	8	966	c.966G>A	c.(964-966)gtG>gtA	p.V322V	SAGE1_ENST00000324447.3_Silent_p.V322V|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Silent_p.V322V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	322						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTCAACCAGTGATTATTTATT	0.393																																																	0													177.0	149.0	158.0					X																	134989560		2203	4300	6503	SO:0001819	synonymous_variant	55511			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.966G>A	X.37:g.134989560G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JNW0	Silent	SNP	NULL	p.V322	ENST00000370709.3	37	c.966	CCDS14652.1	X																																																																																			SAGE1	-	NULL		0.393	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	HGNC	protein_coding	OTTHUMT00000058448.1	G	NM_018666		134989560	+1	no_errors	ENST00000324447	ensembl	human	known	70_37	silent	SNP	0.000	A
SAMD12	401474	genome.wustl.edu	37	8	119391916	119391916	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:119391916C>T	ENST00000314727.4	-	4	482	c.346G>A	c.(346-348)Gac>Aac	p.D116N	AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Missense_Mutation_p.D116N|SAMD12_ENST00000527515.1_5'Flank	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	116	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			AGCTTTTTGTCAGTAAGTCTC	0.468																																																	0													104.0	96.0	99.0					8																	119391916		2203	4300	6503	SO:0001583	missense	401474			AK096777	CCDS6325.1, CCDS47913.1	8q24.12	2013-01-10			ENSG00000177570	ENSG00000177570		"""Sterile alpha motif (SAM) domain containing"""	31750	protein-coding gene	gene with protein product							Standard	NM_207506		Approved	FLJ39458	uc003yom.2	Q8N8I0	OTTHUMG00000059817	ENST00000314727.4:c.346G>A	8.37:g.119391916C>T	ENSP00000314173:p.Asp116Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P502	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D116N	ENST00000314727.4	37	c.346	CCDS6325.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.009670	0.97200	.	.	ENSG00000177570	ENST00000409003;ENST00000524796;ENST00000314727;ENST00000526328	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	6.17	6.17	0.99709	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.051027	0.85682	D	0.000000	D	0.90297	0.6965	L	0.49513	1.565	0.80722	D	1	D;D	0.65815	0.995;0.987	D;P	0.64595	0.927;0.831	D	0.87660	0.2534	9	.	.	.	-16.5841	20.8794	0.99867	0.0:1.0:0.0:0.0	.	116;116	B8ZZB7;Q8N8I0	.;SAM12_HUMAN	N	116;108;116;116	ENSP00000387133:D116N;ENSP00000435927:D108N;ENSP00000314173:D116N;ENSP00000431360:D116N	.	D	-	1	0	SAMD12	119461097	1.000000	0.71417	0.992000	0.48379	0.964000	0.63967	5.745000	0.68672	2.941000	0.99782	0.655000	0.94253	GAC	SAMD12	-	pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.468	SAMD12-001	KNOWN	basic|CCDS	protein_coding	SAMD12	HGNC	protein_coding	OTTHUMT00000132989.3	C	NM_207506		119391916	-1	no_errors	ENST00000314727	ensembl	human	known	70_37	missense	SNP	1.000	T
SAMD13	148418	genome.wustl.edu	37	1	84768891	84768891	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:84768891G>A	ENST00000370671.3	+	2	93	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	SAMD13_ENST00000370669.1_5'UTR|SAMD13_ENST00000394834.3_5'UTR|SAMD13_ENST00000370673.3_Missense_Mutation_p.E6K|SAMD13_ENST00000370670.2_5'UTR|SAMD13_ENST00000370668.3_5'UTR			Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	12										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		ATTAGTTGCTGAAGTAAAGGA	0.388																																																	0													79.0	74.0	76.0					1																	84768891		2203	4300	6503	SO:0001583	missense	148418				CCDS30760.1, CCDS44166.1	1p31.1	2013-01-10			ENSG00000203943	ENSG00000203943		"""Sterile alpha motif (SAM) domain containing"""	24582	protein-coding gene	gene with protein product							Standard	NM_001010971		Approved		uc001djr.3	Q5VXD3	OTTHUMG00000009859	ENST00000370671.3:c.34G>A	1.37:g.84768891G>A	ENSP00000359705:p.Glu12Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Pointed_dom,superfamily_SAM/pointed,pfscan_SAM	p.E12K	ENST00000370671.3	37	c.34		1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255675	0.39896	.	.	ENSG00000203943	ENST00000370673;ENST00000370671	.	.	.	5.34	5.34	0.76211	.	0.626869	0.15305	N	0.269421	T	0.18383	0.0441	N	0.14661	0.345	0.80722	D	1	P	0.36535	0.557	B	0.27796	0.083	T	0.07558	-1.0766	9	0.16420	T	0.52	-15.205	16.3398	0.83078	0.0:0.0:1.0:0.0	.	6	Q5VXD3-2	.	K	6;12	.	ENSP00000359705:E12K	E	+	1	0	SAMD13	84541479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.108000	0.71522	2.657000	0.90304	0.655000	0.94253	GAA	SAMD13	-	NULL		0.388	SAMD13-003	KNOWN	basic	protein_coding	SAMD13	HGNC	protein_coding	OTTHUMT00000027243.1	G	NM_001010971		84768891	+1	no_errors	ENST00000370671	ensembl	human	known	70_37	missense	SNP	1.000	A
SBSN	374897	genome.wustl.edu	37	19	36017549	36017549	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:36017549C>T	ENST00000452271.2	-	1	1663	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	SBSN_ENST00000518157.1_Silent_p.L202L	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	545						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACCTACATTCAGCAGCTGGT	0.627																																																	0													107.0	96.0	100.0					19																	36017549		2203	4300	6503	SO:0001819	synonymous_variant	374897			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1635G>A	19.37:g.36017549C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5J0|E9PBV3	Silent	SNP	NULL	p.L202	ENST00000452271.2	37	c.606	CCDS54253.1	19																																																																																			SBSN	-	NULL		0.627	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3	C	NM_198538		36017549	-1	no_errors	ENST00000518157	ensembl	human	known	70_37	silent	SNP	1.000	T
SCAPER	49855	genome.wustl.edu	37	15	76998282	76998282	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:76998282C>T	ENST00000563290.1	-	18	2304	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	SCAPER_ENST00000538941.2_Missense_Mutation_p.E491K|SCAPER_ENST00000324767.7_Missense_Mutation_p.E737K			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	737	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TCCATAGCTTCTTGTTGAGCA	0.338																																																	0													42.0	38.0	39.0					15																	76998282		1789	4059	5848	SO:0001583	missense	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2209G>A	15.37:g.76998282C>T	ENSP00000454973:p.Glu737Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.E737K	ENST00000563290.1	37	c.2209	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.325274	0.95708	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.25912	1.8;1.77	5.72	5.72	0.89469	.	0.042275	0.85682	D	0.000000	T	0.40862	0.1134	L	0.31926	0.97	0.58432	D	0.999999	D;D;D	0.76494	0.99;0.999;0.983	P;D;P	0.68483	0.852;0.958;0.893	T	0.03278	-1.1053	10	0.25751	T	0.34	.	19.879	0.96888	0.0:1.0:0.0:0.0	.	736;758;491	Q9BY12;Q9BY12-2;F5H7X8	SCAPE_HUMAN;.;.	K	737;491;759	ENSP00000326924:E737K;ENSP00000442190:E491K	ENSP00000303560:E759K	E	-	1	0	SCAPER	74785337	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.050000	0.76620	2.695000	0.91970	0.655000	0.94253	GAA	SCAPER	-	NULL		0.338	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	C	NM_020843		76998282	-1	no_errors	ENST00000324767	ensembl	human	known	70_37	missense	SNP	1.000	T
SCARB1	949	genome.wustl.edu	37	12	125296452	125296452	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:125296452C>T	ENST00000415380.2	-	5	815	c.690G>A	c.(688-690)agG>agA	p.R230R	SCARB1_ENST00000261693.6_Silent_p.R230R|SCARB1_ENST00000376788.1_Silent_p.R130R|SCARB1_ENST00000546215.1_Silent_p.R230R|SCARB1_ENST00000339570.5_Silent_p.R230R|SCARB1_ENST00000541205.1_Silent_p.R189R|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Silent_p.R176R|SCARB1_ENST00000540495.1_Silent_p.R193R			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	230					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGAGGTGGATCCTGCTGATGT	0.632																																																	0													109.0	77.0	88.0					12																	125296452		2203	4300	6503	SO:0001819	synonymous_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.690G>A	12.37:g.125296452C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Silent	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.R230	ENST00000415380.2	37	c.690		12																																																																																			SCARB1	-	pfam_CD36		0.632	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	C	NM_005505		125296452	-1	no_errors	ENST00000415380	ensembl	human	known	70_37	silent	SNP	0.929	T
SCARF2	91179	genome.wustl.edu	37	22	20781775	20781775	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:20781775C>G	ENST00000266214.5	-	10	1722	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	SCARF2_ENST00000405555.3_Missense_Mutation_p.E535Q	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	540					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGGCTGCTCCAGCCCTGAG	0.602																																																	0													116.0	104.0	108.0					22																	20781775		2203	4300	6503	SO:0001583	missense	91179			AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1618G>C	22.37:g.20781775C>G	ENSP00000266214:p.Glu540Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.E535Q	ENST00000266214.5	37	c.1603	CCDS13779.1	22	.	.	.	.	.	.	.	.	.	.	C	18.82	3.706035	0.68615	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.26518	1.85;1.73	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000002	T	0.36580	0.0972	L	0.57536	1.79	0.39887	D	0.97371	P;D	0.56746	0.747;0.977	B;P	0.50352	0.399;0.638	T	0.35599	-0.9782	10	0.66056	D	0.02	-15.5231	15.335	0.74244	0.0:1.0:0.0:0.0	.	535;535	E5RFB8;Q96GP6	.;SREC2_HUMAN	Q	535;535;540	ENSP00000385589:E535Q;ENSP00000266214:E540Q	ENSP00000266214:E540Q	E	-	1	0	SCARF2	19111775	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.439000	0.80444	2.307000	0.77673	0.462000	0.41574	GAG	SCARF2	-	NULL		0.602	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	HGNC	protein_coding	OTTHUMT00000320047.1	C			20781775	-1	no_errors	ENST00000405555	ensembl	human	known	70_37	missense	SNP	1.000	G
SCN3A	6328	genome.wustl.edu	37	2	165984182	165984182	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:165984182C>T	ENST00000360093.3	-	18	3843	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	SCN3A_ENST00000409101.3_Missense_Mutation_p.E1069K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1118K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1118					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGAACTCTTCAGTATTTAAG	0.358																																																	0													83.0	80.0	81.0					2																	165984182		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3352G>A	2.37:g.165984182C>T	ENSP00000353206:p.Glu1118Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E1118K	ENST00000360093.3	37	c.3352		2	.	.	.	.	.	.	.	.	.	.	C	32	5.193037	0.94960	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.93	5.93	0.95920	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000006	D	0.92698	0.7679	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.997;0.998;0.998;1.0	D;D;D;D;D	0.91635	0.993;0.992;0.991;0.991;0.999	D	0.92591	0.6083	10	0.87932	D	0	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	1118;1069;1069;1069;1118	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	1118;1118;1069;1069	ENSP00000353206:E1118K;ENSP00000283254:E1118K;ENSP00000386726:E1069K;ENSP00000403348:E1069K	ENSP00000283254:E1118K	E	-	1	0	SCN3A	165692428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.772000	0.85439	2.815000	0.96918	0.561000	0.74099	GAA	SCN3A	-	pfam_Na_trans_assoc		0.358	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		C	NM_006922		165984182	-1	no_errors	ENST00000283254	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN4B	6330	genome.wustl.edu	37	11	118006542	118006542	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:118006542C>G	ENST00000324727.4	-	0	2033				SCN4B_ENST00000423160.2_5'UTR	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit						AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAACCAGCTCTGGGAGAAGC	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	6330			AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.*1200G>C	11.37:g.118006542C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PPT5|Q6PIG5	RNA	SNP	-	NULL	ENST00000324727.4	37	NULL	CCDS8389.1	11																																																																																			SCN4B	-	-		0.582	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN4B	HGNC	protein_coding	OTTHUMT00000392326.1	C			118006542	-1	no_errors	ENST00000423160	ensembl	human	known	70_37	rna	SNP	0.113	G
SCN7A	6332	genome.wustl.edu	37	2	167319025	167319025	+	Silent	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:167319025T>A	ENST00000409855.1	-	9	1083	c.957A>T	c.(955-957)ggA>ggT	p.G319G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	319					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CACACACATATCCTTCAGGAC	0.383																																																	0													68.0	61.0	63.0					2																	167319025		1855	4098	5953	SO:0001819	synonymous_variant	6332			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.957A>T	2.37:g.167319025T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.G319	ENST00000409855.1	37	c.957	CCDS46442.1	2																																																																																			SCN7A	-	pfam_Ion_trans_dom		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	T			167319025	-1	no_errors	ENST00000409855	ensembl	human	known	70_37	silent	SNP	0.242	A
SCRIB	23513	genome.wustl.edu	37	8	144876128	144876128	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144876128G>A	ENST00000320476.3	-	28	3857	c.3851C>T	c.(3850-3852)cCg>cTg	p.P1284L	SCRIB_ENST00000356994.2_Missense_Mutation_p.P1284L|SCRIB_ENST00000546337.1_5'UTR|SCRIB_ENST00000377533.3_Missense_Mutation_p.P1203L	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1284					activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGCTCCAGACGGTACCTGGAG	0.647																																					Pancreas(51;966 1133 10533 14576 29674)												0													76.0	61.0	66.0					8																	144876128		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3851C>T	8.37:g.144876128G>A	ENSP00000322938:p.Pro1284Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.P1284L	ENST00000320476.3	37	c.3851	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558697	0.27827	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.36340	1.48;1.45;1.26	3.83	1.01	0.19927	.	.	.	.	.	T	0.29684	0.0741	L	0.53249	1.67	0.09310	N	0.999998	B;B	0.13145	0.004;0.007	B;B	0.12156	0.003;0.007	T	0.25537	-1.0129	9	0.28530	T	0.3	.	6.8379	0.23947	0.3289:0.0:0.6711:0.0	.	1284;1284	Q14160;Q14160-3	SCRIB_HUMAN;.	L	1284;1284;1203;653	ENSP00000349486:P1284L;ENSP00000322938:P1284L;ENSP00000366756:P1203L	ENSP00000322938:P1284L	P	-	2	0	SCRIB	144948116	0.000000	0.05858	0.001000	0.08648	0.432000	0.31715	-0.107000	0.10873	0.006000	0.14734	0.305000	0.20034	CCG	SCRIB	-	NULL		0.647	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144876128	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	0.003	A
SCUBE3	222663	genome.wustl.edu	37	6	35210024	35210024	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:35210024C>G	ENST00000274938.7	+	13	1461	c.1461C>G	c.(1459-1461)atC>atG	p.I487M	SCUBE3_ENST00000394681.1_Missense_Mutation_p.I503M	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCTTCAAGATCAAGGATGCCA	0.547																																																	0													132.0	129.0	130.0					6																	35210024		2203	4300	6503	SO:0001583	missense	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1461C>G	6.37:g.35210024C>G	ENSP00000274938:p.Ile487Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin	p.I503M	ENST00000274938.7	37	c.1509	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466880	0.43839	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.83914	-1.33;-1.78	4.77	3.88	0.44766	.	0.050366	0.85682	D	0.000000	D	0.83613	0.5292	M	0.66939	2.045	0.48571	D	0.999672	D;D	0.63880	0.993;0.988	P;P	0.62298	0.9;0.691	T	0.82910	-0.0223	10	0.41790	T	0.15	.	8.8796	0.35367	0.1491:0.771:0.0:0.0799	.	503;487	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	M	503;487	ENSP00000378174:I503M;ENSP00000274938:I487M	ENSP00000274938:I487M	I	+	3	3	SCUBE3	35318002	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.675000	0.37555	2.359000	0.80004	0.650000	0.86243	ATC	SCUBE3	-	NULL		0.547	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	C	NM_152753		35210024	+1	no_errors	ENST00000394681	ensembl	human	known	70_37	missense	SNP	1.000	G
SDC1	6382	genome.wustl.edu	37	2	20402528	20402528	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20402528C>T	ENST00000254351.4	-	5	1176	c.932G>A	c.(931-933)tGa>tAa	p.*311*	SDC1_ENST00000381150.1_Silent_p.*311*|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Intron	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	0					canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTCCCGCGTCAGGCATAGAA	0.627																																																	0													97.0	101.0	100.0					2																	20402528		2203	4300	6503	SO:0001819	synonymous_variant	6382			AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.932G>A	2.37:g.20402528C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W523|Q53QV0|Q546D3|Q96HB7	Silent	SNP	pfam_Syndecan,smart_Neurexin-like	p.*311	ENST00000254351.4	37	c.932	CCDS1697.1	2																																																																																			SDC1	-	NULL		0.627	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	HGNC	protein_coding	OTTHUMT00000207495.1	C	NM_001006946		20402528	-1	no_errors	ENST00000254351	ensembl	human	known	70_37	silent	SNP	1.000	T
SDK1	221935	genome.wustl.edu	37	7	4050690	4050690	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:4050690C>T	ENST00000404826.2	+	15	2363	c.2224C>T	c.(2224-2226)Cgg>Tgg	p.R742W	SDK1_ENST00000389531.3_Missense_Mutation_p.R742W	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	742	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTATCAATTCCGGGTGTGCGC	0.617																																																	0													50.0	46.0	47.0					7																	4050690		2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2224C>T	7.37:g.4050690C>T	ENSP00000385899:p.Arg742Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R742W	ENST00000404826.2	37	c.2224	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771920	0.49680	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.60920	0.15;0.15	5.55	-6.11	0.02131	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84696	0.5529	H	0.99011	4.4	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87367	0.2348	10	0.87932	D	0	.	23.6547	0.99985	0.1906:0.8094:0.0:0.0	.	742;742	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	W	742	ENSP00000385899:R742W;ENSP00000374182:R742W	ENSP00000374182:R742W	R	+	1	2	SDK1	4017216	0.854000	0.29725	0.415000	0.26534	0.141000	0.21300	0.014000	0.13333	-1.418000	0.02014	-0.262000	0.10625	CGG	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	C	NM_152744		4050690	+1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.659	T
SEC31A	22872	genome.wustl.edu	37	4	83774807	83774807	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:83774807G>A	ENST00000395310.2	-	18	2252	c.2070C>T	c.(2068-2070)ctC>ctT	p.L690L	SEC31A_ENST00000264405.5_Silent_p.L423L|SEC31A_ENST00000355196.2_Silent_p.L690L|SEC31A_ENST00000505472.1_Silent_p.L690L|SEC31A_ENST00000508479.1_Silent_p.L690L|SEC31A_ENST00000432794.1_Silent_p.L690L|SEC31A_ENST00000500777.2_Silent_p.L651L|SEC31A_ENST00000448323.1_Silent_p.L690L|SEC31A_ENST00000311785.7_Silent_p.L690L|SEC31A_ENST00000508502.1_Silent_p.L690L|SEC31A_ENST00000505984.1_Silent_p.L651L|SEC31A_ENST00000513858.1_Silent_p.L651L|SEC31A_ENST00000326950.5_Silent_p.L651L|SEC31A_ENST00000348405.4_Silent_p.L651L|SEC31A_ENST00000509142.1_Silent_p.L690L|SEC31A_ENST00000443462.2_Silent_p.L685L	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	690					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAATATAGCAGAGACATGCTT	0.398																																																	0													113.0	110.0	111.0					4																	83774807		2203	4300	6503	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2070C>T	4.37:g.83774807G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L690	ENST00000395310.2	37	c.2070	CCDS3596.1	4																																																																																			SEC31A	-	NULL		0.398	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	HGNC	protein_coding	OTTHUMT00000252640.1	G	NM_016211		83774807	-1	no_errors	ENST00000432794	ensembl	human	known	70_37	silent	SNP	1.000	A
SEMA4B	10509	genome.wustl.edu	37	15	90768586	90768586	+	Nonsense_Mutation	SNP	C	C	G	rs367772033		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:90768586C>G	ENST00000411539.2	+	11	1738	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	SEMA4B_ENST00000379122.3_Nonsense_Mutation_p.S488*|SEMA4B_ENST00000332496.6_Nonsense_Mutation_p.S493*	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	488	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CAGATCTTCTCATCGGGACAG	0.637																																																	0													38.0	45.0	42.0					15																	90768586		2027	4163	6190	SO:0001587	stop_gained	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.1478C>G	15.37:g.90768586C>G	ENSP00000394720:p.Ser493*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Nonsense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.S493*	ENST00000411539.2	37	c.1478	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529916	0.45073	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	.	.	.	5.37	3.44	0.39384	.	0.929598	0.09071	N	0.852906	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.1424	0.25564	0.3283:0.5926:0.0:0.0791	.	.	.	.	X	493;488;493	.	ENSP00000332204:S493X	S	+	2	0	SEMA4B	88569590	0.000000	0.05858	0.021000	0.16686	0.127000	0.20565	0.895000	0.28363	0.600000	0.29862	0.561000	0.74099	TCA	SEMA4B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.637	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	HGNC	protein_coding	OTTHUMT00000416810.1	C	NM_198925		90768586	+1	no_errors	ENST00000332496	ensembl	human	known	70_37	nonsense	SNP	0.587	G
SEPT3	55964	genome.wustl.edu	37	22	42387592	42387592	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:42387592G>C	ENST00000396426.3	+	7	940	c.685G>C	c.(685-687)Gaa>Caa	p.E229Q	SEPT3_ENST00000291236.11_Missense_Mutation_p.E165Q|SEPT3_ENST00000396425.3_Missense_Mutation_p.E229Q|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.E165Q	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	229	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CAAGGAGCTTGAAGTAAATGG	0.502																																																	0													115.0	109.0	111.0					22																	42387592		2203	4300	6503	SO:0001583	missense	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.685G>C	22.37:g.42387592G>C	ENSP00000379704:p.Glu229Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.E229Q	ENST00000396426.3	37	c.685	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033147	0.54896	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	L	0.28014	0.82	0.80722	D	1	P;B;B;P;P	0.42078	0.458;0.026;0.261;0.728;0.77	B;B;B;B;P	0.46144	0.099;0.065;0.159;0.282;0.505	T	0.02743	-1.1116	10	0.16896	T	0.51	.	19.1296	0.93400	0.0:0.0:1.0:0.0	.	165;216;165;229;229	B7Z686;A8K1X2;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;.;SEPT3_HUMAN	Q	229;165;229;165	ENSP00000379704:E229Q;ENSP00000383956:E165Q;ENSP00000379703:E229Q;ENSP00000291236:E165Q	ENSP00000291236:E165Q	E	+	1	0	SEPT3	40717538	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.569000	0.67391	2.592000	0.87571	0.655000	0.94253	GAA	SEPT3	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.502	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	G	NM_145734		42387592	+1	no_errors	ENST00000396426	ensembl	human	known	70_37	missense	SNP	1.000	C
SEPT9	10801	genome.wustl.edu	37	17	75478551	75478551	+	Intron	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:75478551G>T	ENST00000427177.1	+	4	1039				SEPT9_ENST00000592420.1_Missense_Mutation_p.L158F|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000427180.1_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000590294.1_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AGGACGGATTGCCAGTGACAT	0.637																																																	0																																										SO:0001627	intron_variant	10801			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.913+134G>T	17.37:g.75478551G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	NULL	p.L158F	ENST00000427177.1	37	c.474	CCDS45790.1	17																																																																																			SEPT9	-	NULL		0.637	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	G	NM_006640		75478551	+1	no_errors	ENST00000592420	ensembl	human	putative	70_37	missense	SNP	0.000	T
SERINC5	256987	genome.wustl.edu	37	5	79465309	79465309	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:79465309G>A	ENST00000507668.2	-	6	762	c.612C>T	c.(610-612)atC>atT	p.I204I	SERINC5_ENST00000512972.2_Silent_p.I204I|SERINC5_ENST00000509193.1_Silent_p.I204I|SERINC5_ENST00000512721.1_Silent_p.I204I	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	204					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TGGAATACATGATGAGCGTCA	0.507																																																	0													70.0	71.0	70.0					5																	79465309		2015	4174	6189	SO:0001819	synonymous_variant	256987			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.612C>T	5.37:g.79465309G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMH7|Q495A4|Q495A6	Silent	SNP	pfam_TMS_TDE	p.I204	ENST00000507668.2	37	c.612	CCDS54873.1	5																																																																																			SERINC5	-	pfam_TMS_TDE		0.507	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		G	NM_178276		79465309	-1	no_errors	ENST00000509193	ensembl	human	known	70_37	silent	SNP	1.000	A
SERINC5	256987	genome.wustl.edu	37	5	79465312	79465312	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:79465312G>A	ENST00000507668.2	-	6	759	c.609C>T	c.(607-609)ctC>ctT	p.L203L	SERINC5_ENST00000512972.2_Silent_p.L203L|SERINC5_ENST00000509193.1_Silent_p.L203L|SERINC5_ENST00000512721.1_Silent_p.L203L	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	203					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		AATACATGATGAGCGTCACCA	0.502																																																	0													68.0	70.0	69.0					5																	79465312		2025	4179	6204	SO:0001819	synonymous_variant	256987			AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.609C>T	5.37:g.79465312G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMH7|Q495A4|Q495A6	Silent	SNP	pfam_TMS_TDE	p.L203	ENST00000507668.2	37	c.609	CCDS54873.1	5																																																																																			SERINC5	-	pfam_TMS_TDE		0.502	SERINC5-201	KNOWN	basic|CCDS	protein_coding	SERINC5	HGNC	protein_coding		G	NM_178276		79465312	-1	no_errors	ENST00000509193	ensembl	human	known	70_37	silent	SNP	0.405	A
SESN2	83667	genome.wustl.edu	37	1	28598238	28598238	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:28598238G>A	ENST00000253063.3	+	3	531	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	70					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGCACTGATGTCCTCTG	0.632																																																	0													84.0	77.0	79.0					1																	28598238		2203	4300	6503	SO:0001819	synonymous_variant	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.210G>A	1.37:g.28598238G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7D0|Q96SI5	Silent	SNP	pfam_PA26	p.L70	ENST00000253063.3	37	c.210	CCDS321.1	1																																																																																			SESN2	-	pfam_PA26		0.632	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	G			28598238	+1	no_errors	ENST00000253063	ensembl	human	known	70_37	silent	SNP	0.781	A
SEZ6	124925	genome.wustl.edu	37	17	27283392	27283392	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:27283392C>G	ENST00000317338.12	-	15	3253	c.2825G>C	c.(2824-2826)gGa>gCa	p.G942A	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.G929A|SEZ6_ENST00000360295.9_Missense_Mutation_p.G942A|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	942					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTATACACCTCCTACCAACAA	0.547																																																	0													35.0	36.0	35.0					17																	27283392		2145	4260	6405	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.2825G>C	17.37:g.27283392C>G	ENSP00000312942:p.Gly942Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G942A	ENST00000317338.12	37	c.2825	CCDS45639.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.627687|1.627687	0.28978|0.28978	.|.	.|.	ENSG00000063015|ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000540632|ENST00000538978;ENST00000535262;ENST00000535762	T|.	0.27104|.	1.69|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.320832|.	0.29424|.	N|.	0.012187|.	T|T	0.71753|0.71753	0.3377|0.3377	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;P;P|.	0.46784|.	0.884;0.537;0.539|.	P;B;B|.	0.45610|.	0.487;0.32;0.085|.	T|T	0.70757|0.70757	-0.4785|-0.4785	10|5	0.35671|.	T|.	0.21|.	.|.	13.9199|13.9199	0.63926|0.63926	0.0:0.8475:0.1525:0.0|0.0:0.8475:0.1525:0.0	.|.	942;817;942|.	Q53EL9-3;Q53EL9-2;Q53EL9|.	.;.;SEZ6_HUMAN|.	A|S	942;942;817;59|135;22;65	ENSP00000353440:G942A|.	ENSP00000312942:G817A|.	G|R	-|-	2|3	0|2	SEZ6|SEZ6	24307518|24307518	0.968000|0.968000	0.33430|0.33430	1.000000|1.000000	0.80357|0.80357	0.908000|0.908000	0.53690|0.53690	4.489000|4.489000	0.60309|0.60309	2.650000|2.650000	0.89964|0.89964	0.491000|0.491000	0.48974|0.48974	GGA|AGG	SEZ6	-	NULL		0.547	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	C			27283392	-1	no_errors	ENST00000317338	ensembl	human	known	70_37	missense	SNP	1.000	G
SFR1	119392	genome.wustl.edu	37	10	105885337	105885337	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:105885337G>A	ENST00000369727.3	+	4	632	c.613G>A	c.(613-615)Gag>Aag	p.E205K	SFR1_ENST00000369729.3_Missense_Mutation_p.E192K|SFR1_ENST00000336358.5_Missense_Mutation_p.E267K	NM_001002759.1	NP_001002759.1	Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	205					double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)											CTTGCTTTATGAGTTGCAGTC	0.358																																																	0													90.0	91.0	90.0					10																	105885337		2203	4300	6503	SO:0001583	missense	119392			BC020892	CCDS31279.1, CCDS31280.1	10q25.1	2013-10-11	2011-08-01	2011-08-01	ENSG00000156384	ENSG00000156384			29574	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 78"", ""MEI5 recombination repair protein homolog (S. cerevisiae)"""	C10orf78, MEIR5		21252223, 21779174, 20976249	Standard	NM_145247		Approved	MEI5, bA373N18.1, FLJ41960	uc001kxu.3	Q86XK3	OTTHUMG00000019000	ENST00000369727.3:c.613G>A	10.37:g.105885337G>A	ENSP00000358742:p.Glu205Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K569|B2RTV8|Q5JT39|Q5JT40|Q8WW47	Missense_Mutation	SNP	pfam_Ds-recomb_repair_prot_Mei5	p.E267K	ENST00000369727.3	37	c.799	CCDS31279.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.321074	0.95682	.	.	ENSG00000156384	ENST00000369729;ENST00000369727;ENST00000336358	T;T;T	0.55760	0.58;0.52;0.5	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.71929	0.3398	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73023	-0.4113	10	0.72032	D	0.01	-25.9038	19.7967	0.96487	0.0:0.0:1.0:0.0	.	267;205	Q86XK3-2;Q86XK3	.;SFR1_HUMAN	K	192;205;267	ENSP00000358744:E192K;ENSP00000358742:E205K;ENSP00000338089:E267K	ENSP00000338089:E267K	E	+	1	0	SFR1	105875327	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	5.789000	0.69029	2.857000	0.98124	0.644000	0.83932	GAG	SFR1	-	pfam_Ds-recomb_repair_prot_Mei5		0.358	SFR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SFR1	HGNC	protein_coding	OTTHUMT00000050191.1	G	NM_145247		105885337	+1	no_errors	ENST00000336358	ensembl	human	known	70_37	missense	SNP	1.000	A
SGIP1	84251	genome.wustl.edu	37	1	67154849	67154849	+	Missense_Mutation	SNP	G	G	C	rs542858072	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:67154849G>C	ENST00000371037.4	+	16	1411	c.1334G>C	c.(1333-1335)cGa>cCa	p.R445P	SGIP1_ENST00000237247.6_Missense_Mutation_p.R476P|SGIP1_ENST00000371039.1_Missense_Mutation_p.R246P|SGIP1_ENST00000371036.3_Missense_Mutation_p.R245P|SGIP1_ENST00000371035.3_Missense_Mutation_p.R235P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	445	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCCCCTGCTCGACCAGCCACT	0.542													G|||	98	0.0195687	0.0129	0.0389	5008	,	,		16946	0.0218		0.0318	False		,,,				2504	0.0																0													212.0	215.0	214.0					1																	67154849		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1334G>C	1.37:g.67154849G>C	ENSP00000360076:p.Arg445Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.R476P	ENST00000371037.4	37	c.1427	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138696	0.77775	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05	6.17	6.17	0.99709	.	0.125931	0.56097	D	0.000029	T	0.13157	0.0319	M	0.70275	2.135	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.996;0.996;0.999	D;D;D;D	0.81914	0.995;0.979;0.979;0.995	T	0.00292	-1.1842	10	0.54805	T	0.06	-10.234	19.6509	0.95805	0.0:0.0:1.0:0.0	.	475;45;235;445	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	P	476;246;235;475;448;245;445	ENSP00000237247:R476P;ENSP00000360078:R246P;ENSP00000360074:R235P;ENSP00000360075:R245P;ENSP00000360076:R445P	ENSP00000237247:R476P	R	+	2	0	SGIP1	66927437	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	8.648000	0.91062	2.941000	0.99782	0.655000	0.94253	CGA	SGIP1	-	NULL		0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	G	NM_032291		67154849	+1	no_errors	ENST00000237247	ensembl	human	known	70_37	missense	SNP	1.000	C
SGIP1	84251	genome.wustl.edu	37	1	67185048	67185048	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:67185048G>C	ENST00000371037.4	+	19	1779	c.1702G>C	c.(1702-1704)Gaa>Caa	p.E568Q	SGIP1_ENST00000435165.2_Missense_Mutation_p.E73Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.E599Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.E371Q|SGIP1_ENST00000371036.3_Missense_Mutation_p.E370Q|SGIP1_ENST00000371035.3_Missense_Mutation_p.E358Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	568	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATTTACAGAAACAGTCAA	0.453																																																	0													79.0	72.0	74.0					1																	67185048		2203	4300	6503	SO:0001583	missense	84251			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1702G>C	1.37:g.67185048G>C	ENSP00000360076:p.Glu568Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.E599Q	ENST00000371037.4	37	c.1795	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.284785	0.80803	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037;ENST00000435165	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.4	5.4	0.78164	Muniscin C-terminal mu homology domain (1);	0.000000	0.85682	D	0.000000	D	0.83055	0.5171	M	0.88775	2.98	0.80722	D	1	D;P;D;D;D	0.71674	0.998;0.904;0.993;0.993;0.962	D;P;P;P;P	0.74348	0.983;0.659;0.782;0.824;0.882	D	0.86147	0.1585	10	0.87932	D	0	-16.8064	19.1779	0.93611	0.0:0.0:1.0:0.0	.	598;73;170;358;568	A6NEV3;Q6ZV33;B3KR01;B7Z5H8;Q9BQI5	.;.;.;.;SGIP1_HUMAN	Q	599;371;358;598;571;370;568;73	ENSP00000237247:E599Q;ENSP00000360078:E371Q;ENSP00000360074:E358Q;ENSP00000360075:E370Q;ENSP00000360076:E568Q;ENSP00000395525:E73Q	ENSP00000237247:E599Q	E	+	1	0	SGIP1	66957636	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	9.415000	0.97375	2.528000	0.85240	0.650000	0.86243	GAA	SGIP1	-	pfam_Muniscin_C-term_mu_dom		0.453	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	G	NM_032291		67185048	+1	no_errors	ENST00000237247	ensembl	human	known	70_37	missense	SNP	1.000	C
SGOL2	151246	genome.wustl.edu	37	2	201438500	201438500	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:201438500C>T	ENST00000357799.4	+	7	3529	c.3431C>T	c.(3430-3432)tCa>tTa	p.S1144L		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1144					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAGATACATTCACCTAACATA	0.338																																																	0													113.0	104.0	107.0					2																	201438500		1843	4088	5931	SO:0001583	missense	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.3431C>T	2.37:g.201438500C>T	ENSP00000350447:p.Ser1144Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.S1144L	ENST00000357799.4	37	c.3431	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274696	0.59649	.	.	ENSG00000163535	ENST00000357799	T	0.14022	2.54	5.52	4.61	0.57282	.	0.560673	0.15116	N	0.279691	T	0.15349	0.0370	M	0.64997	1.995	0.80722	D	1	B;B;B	0.28178	0.202;0.202;0.202	B;B;B	0.22386	0.039;0.039;0.039	T	0.03130	-1.1069	10	0.87932	D	0	-0.7433	8.2995	0.32006	0.0:0.8869:0.0:0.1131	.	1144;1144;1144	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	L	1144	ENSP00000350447:S1144L	ENSP00000350447:S1144L	S	+	2	0	SGOL2	201146745	0.474000	0.25886	0.583000	0.28640	0.028000	0.11728	1.999000	0.40806	1.475000	0.48197	0.650000	0.86243	TCA	SGOL2	-	NULL		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	C	NM_152524		201438500	+1	no_errors	ENST00000357799	ensembl	human	known	70_37	missense	SNP	0.882	T
SH2D3A	10045	genome.wustl.edu	37	19	6754258	6754258	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:6754258G>A	ENST00000245908.6	-	7	1542				CTD-3128G10.6_ENST00000594056.1_RNA|SH2D3A_ENST00000437152.3_Missense_Mutation_p.R304C|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A						JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TGCTCCCCACGAACCTGGGGC	0.692																																																	0													10.0	13.0	12.0					19																	6754258		2192	4285	6477	SO:0001627	intron_variant	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1272+3C>T	19.37:g.6754258G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	superfamily_Ras_GEF_dom	p.R304C	ENST00000245908.6	37	c.910	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164014	0.57476	.	.	ENSG00000125731	ENST00000437152	T	0.32515	1.45	4.42	0.242	0.15498	.	.	.	.	.	T	0.15955	0.0384	.	.	.	0.09310	N	1	B	0.17465	0.022	B	0.12156	0.007	T	0.28933	-1.0028	7	.	.	.	.	5.3699	0.16134	0.1078:0.0:0.362:0.5302	.	304	B4DRS7	.	C	304	ENSP00000393303:R304C	.	R	-	1	0	SH2D3A	6705258	0.000000	0.05858	0.949000	0.38748	0.757000	0.42996	-0.267000	0.08619	0.401000	0.25424	0.313000	0.20887	CGT	SH2D3A	-	NULL		0.692	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	G	NM_005490		6754258	-1	no_errors	ENST00000437152	ensembl	human	novel	70_37	missense	SNP	0.111	A
SH3BP5	9467	genome.wustl.edu	37	3	15311349	15311349	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:15311349G>T	ENST00000383791.3	-	4	586	c.366C>A	c.(364-366)ttC>ttA	p.F122L	SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000465894.2_Intron|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000408919.3_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	122					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						TGGCCCTCTGGAAGTCCTGCG	0.607																																																	0													108.0	111.0	110.0					3																	15311349		2203	4300	6503	SO:0001583	missense	9467			AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.366C>A	3.37:g.15311349G>T	ENSP00000373301:p.Phe122Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQW6|Q5JWV9	Missense_Mutation	SNP	pfam_SH3-bd_5	p.F122L	ENST00000383791.3	37	c.366	CCDS2625.2	3	.	.	.	.	.	.	.	.	.	.	G	35	5.560977	0.96527	.	.	ENSG00000131370	ENST00000383791	T	0.77098	-1.07	5.41	4.53	0.55603	.	0.047752	0.85682	D	0.000000	D	0.85792	0.5779	M	0.83953	2.67	0.80722	D	1	D	0.61080	0.989	P	0.60117	0.869	D	0.87391	0.2363	10	0.87932	D	0	-10.6974	11.1459	0.48430	0.1398:0.0:0.8602:0.0	.	122	O60239	3BP5_HUMAN	L	122	ENSP00000373301:F122L	ENSP00000373301:F122L	F	-	3	2	SH3BP5	15286353	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.437000	0.52863	2.550000	0.86006	0.555000	0.69702	TTC	SH3BP5	-	pfam_SH3-bd_5		0.607	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BP5	HGNC	protein_coding	OTTHUMT00000340740.2	G	NM_004844		15311349	-1	no_errors	ENST00000383791	ensembl	human	known	70_37	missense	SNP	1.000	T
SHB	6461	genome.wustl.edu	37	9	37955983	37955983	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:37955983G>A	ENST00000377707.3	-	4	1688	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	375	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CCAGGGGCACGAAGCTGGCGC	0.607																																																	0													26.0	26.0	26.0					9																	37955983		1893	4098	5991	SO:0001583	missense	6461				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1123C>T	9.37:g.37955983G>A	ENSP00000366936:p.Arg375Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R375C	ENST00000377707.3	37	c.1123	CCDS43806.1	9	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047523	0.75846	.	.	ENSG00000107338	ENST00000377707	T	0.37752	1.18	5.54	5.54	0.83059	.	0.000000	0.52532	D	0.000076	T	0.53126	0.1777	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.53279	-0.8461	10	0.66056	D	0.02	-4.1935	11.9893	0.53166	0.0:0.0:0.827:0.173	.	375	Q15464	SHB_HUMAN	C	375	ENSP00000366936:R375C	ENSP00000366936:R375C	R	-	1	0	SHB	37945983	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.596000	0.54024	2.607000	0.88179	0.462000	0.41574	CGT	SHB	-	NULL		0.607	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHB	HGNC	protein_coding	OTTHUMT00000052490.1	G			37955983	-1	no_errors	ENST00000377707	ensembl	human	known	70_37	missense	SNP	1.000	A
SHISA5	51246	genome.wustl.edu	37	3	48509961	48509961	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:48509961C>G	ENST00000296444.2	-	0	1604				SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000442747.1_3'UTR|SHISA5_ENST00000426002.1_3'UTR|SHISA5_ENST00000443308.2_3'UTR|SHISA5_ENST00000444115.1_3'UTR	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5						intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						GGATCAAAGTCCAACTTGGCC	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	51246			AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.*545G>C	3.37:g.48509961C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	RNA	SNP	-	NULL	ENST00000296444.2	37	NULL	CCDS2770.1	3																																																																																			SHISA5	-	-		0.607	SHISA5-001	KNOWN	basic|CCDS	protein_coding	SHISA5	HGNC	protein_coding	OTTHUMT00000257504.3	C	NM_016479		48509961	-1	no_errors	ENST00000465449	ensembl	human	known	70_37	rna	SNP	0.010	G
SI	6476	genome.wustl.edu	37	3	164700155	164700155	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:164700155T>A	ENST00000264382.3	-	47	5353	c.5291A>T	c.(5290-5292)aAa>aTa	p.K1764I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1764	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CGTTTCACTTTTATTTATGTA	0.338										HNSCC(35;0.089)																																							0													127.0	121.0	123.0					3																	164700155		2202	4300	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5291A>T	3.37:g.164700155T>A	ENSP00000264382:p.Lys1764Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.K1764I	ENST00000264382.3	37	c.5291	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	T	7.191	0.591549	0.13812	.	.	ENSG00000090402	ENST00000264382	D	0.89415	-2.51	4.56	-3.53	0.04667	.	0.891435	0.09688	N	0.768803	T	0.80314	0.4600	L	0.38531	1.155	0.09310	N	1	B	0.10296	0.003	B	0.14578	0.011	T	0.63466	-0.6631	10	0.38643	T	0.18	.	6.7498	0.23482	0.0:0.3682:0.3768:0.255	.	1764	P14410	SUIS_HUMAN	I	1764	ENSP00000264382:K1764I	ENSP00000264382:K1764I	K	-	2	0	SI	166182849	0.000000	0.05858	0.002000	0.10522	0.343000	0.28985	-1.396000	0.02513	-0.836000	0.04229	0.482000	0.46254	AAA	SI	-	NULL		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	T	NM_001041		164700155	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	0.001	A
SIGLEC1	6614	genome.wustl.edu	37	20	3684498	3684498	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3684498G>A	ENST00000344754.4	-	4	946	c.947C>T	c.(946-948)tCa>tTa	p.S316L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S316L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	316	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GATGGGGGGTGAGACCAAAGA	0.602																																																	0													55.0	46.0	49.0					20																	3684498		2203	4300	6503	SO:0001583	missense	6614			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.947C>T	20.37:g.3684498G>A	ENSP00000341141:p.Ser316Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S316L	ENST00000344754.4	37	c.947	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833450	0.71258	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.19938	2.11;2.11	5.26	5.26	0.73747	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31177	N	0.008107	T	0.52435	0.1734	M	0.89287	3.02	0.09310	N	0.999991	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.74674	0.984;0.983;0.977	T	0.52845	-0.8521	10	0.41790	T	0.15	.	16.3669	0.83335	0.0:0.0:1.0:0.0	.	316;316;316	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	L	316	ENSP00000341141:S316L;ENSP00000202578:S316L	ENSP00000202578:S316L	S	-	2	0	SIGLEC1	3632498	0.975000	0.34042	0.016000	0.15963	0.005000	0.04900	6.003000	0.70701	2.455000	0.83008	0.655000	0.94253	TCA	SIGLEC1	-	smart_Ig_sub,pfscan_Ig-like		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	G	NM_023068		3684498	-1	no_errors	ENST00000344754	ensembl	human	known	70_37	missense	SNP	0.035	A
LOC101928517	101928517	genome.wustl.edu	37	19	51671124	51671124	+	RNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:51671124C>G	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							ATTCCCCGCTCTCTGTGTATG	0.537																																																	0																																												284367																															19.37:g.51671124C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000600074.1	37	NULL		19																																																																																			SIGLEC17P	-	-		0.537	CTD-3187F8.14-001	KNOWN	basic	antisense	SIGLEC17P	HGNC	antisense	OTTHUMT00000465635.1	C			51671124	+1	no_errors	ENST00000341811	ensembl	human	known	70_37	rna	SNP	0.000	G
SIGLEC8	27181	genome.wustl.edu	37	19	51960463	51960463	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:51960463C>T	ENST00000321424.3	-	3	822	c.756G>A	c.(754-756)atG>atA	p.M252I	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.M159I	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	252	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGAAGACAGTCATGGTCAAGT	0.567																																																	0													100.0	95.0	97.0					19																	51960463		2203	4300	6503	SO:0001583	missense	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.756G>A	19.37:g.51960463C>T	ENSP00000321077:p.Met252Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z728	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.M252I	ENST00000321424.3	37	c.756	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	1.213	-0.629235	0.03610	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.57907	0.37;1.48	2.14	-3.15	0.05233	Immunoglobulin-like (1);	1.472820	0.04771	N	0.428130	T	0.14184	0.0343	N	0.00648	-1.295	0.09310	N	1	B;B	0.14438	0.01;0.0	B;B	0.12156	0.007;0.0	T	0.18304	-1.0341	10	0.05721	T	0.95	.	0.4369	0.00480	0.1743:0.2123:0.2625:0.3509	.	159;252	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	I	252;159	ENSP00000321077:M252I;ENSP00000339448:M159I	ENSP00000321077:M252I	M	-	3	0	SIGLEC8	56652275	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.604000	0.05667	-0.667000	0.05303	0.508000	0.49915	ATG	SIGLEC8	-	pfscan_Ig-like		0.567	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	C	NM_014442		51960463	-1	no_errors	ENST00000321424	ensembl	human	known	70_37	missense	SNP	0.000	T
SIL1	64374	genome.wustl.edu	37	5	138282845	138282845	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:138282845C>G	ENST00000394817.2	-	10	1486	c.1347G>C	c.(1345-1347)ctG>ctC	p.L449L	SIL1_ENST00000509534.1_Silent_p.L456L|SIL1_ENST00000265195.5_Silent_p.L449L|SIL1_ENST00000515008.1_5'UTR	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	449					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGAGCCCAGCAGCTCCTGGA	0.647									Marinesco-Sjgren syndrome																																								0													47.0	43.0	44.0					5																	138282845		2203	4300	6503	SO:0001819	synonymous_variant	64374	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.1347G>C	5.37:g.138282845C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQC2|Q8N2L3	Silent	SNP	superfamily_ARM-type_fold	p.L449	ENST00000394817.2	37	c.1347	CCDS4209.1	5																																																																																			SIL1	-	NULL		0.647	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIL1	HGNC	protein_coding	OTTHUMT00000251319.1	C	NM_022464		138282845	-1	no_errors	ENST00000265195	ensembl	human	known	70_37	silent	SNP	1.000	G
SIPA1L3	23094	genome.wustl.edu	37	19	38684202	38684202	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38684202G>A	ENST00000222345.6	+	18	5131	c.4622G>A	c.(4621-4623)cGg>cAg	p.R1541Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1541					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCTGCAGCGGACGCTGTCG	0.692																																																	0													12.0	14.0	13.0					19																	38684202		2191	4288	6479	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4622G>A	19.37:g.38684202G>A	ENSP00000222345:p.Arg1541Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.R1541Q	ENST00000222345.6	37	c.4622	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563460	0.86335	.	.	ENSG00000105738	ENST00000222345	T	0.61627	0.09	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.68815	0.3042	L	0.58810	1.83	0.52099	D	0.999943	D	0.59357	0.985	P	0.55303	0.773	T	0.71203	-0.4662	10	0.72032	D	0.01	-35.7883	18.4718	0.90777	0.0:0.0:1.0:0.0	.	1541	O60292	SI1L3_HUMAN	Q	1541	ENSP00000222345:R1541Q	ENSP00000222345:R1541Q	R	+	2	0	SIPA1L3	43376042	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	6.424000	0.73366	2.733000	0.93635	0.561000	0.74099	CGG	SIPA1L3	-	pfam_DUF3401		0.692	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38684202	+1	no_errors	ENST00000222345	ensembl	human	known	70_37	missense	SNP	1.000	A
SIPA1L3	23094	genome.wustl.edu	37	19	38684216	38684216	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:38684216G>A	ENST00000222345.6	+	18	5145	c.4636G>A	c.(4636-4638)Gag>Aag	p.E1546K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1546					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCTGTCGGACGAGAGCCTGTG	0.692																																																	0													10.0	11.0	11.0					19																	38684216		2176	4277	6453	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4636G>A	19.37:g.38684216G>A	ENSP00000222345:p.Glu1546Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E1546K	ENST00000222345.6	37	c.4636	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605015	0.87157	.	.	ENSG00000105738	ENST00000222345	T	0.59772	0.24	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.75474	0.3854	M	0.71871	2.18	0.58432	D	0.999999	D	0.89917	1.0	D	0.72338	0.977	T	0.76356	-0.2989	10	0.54805	T	0.06	-40.8178	18.1473	0.89662	0.0:0.0:1.0:0.0	.	1546	O60292	SI1L3_HUMAN	K	1546	ENSP00000222345:E1546K	ENSP00000222345:E1546K	E	+	1	0	SIPA1L3	43376056	1.000000	0.71417	0.966000	0.40874	0.210000	0.24377	8.201000	0.89735	2.664000	0.90586	0.561000	0.74099	GAG	SIPA1L3	-	pfam_DUF3401		0.692	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38684216	+1	no_errors	ENST00000222345	ensembl	human	known	70_37	missense	SNP	1.000	A
SIRT4	23409	genome.wustl.edu	37	12	120751013	120751013	+	3'UTR	SNP	C	C	G	rs200727815		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:120751013C>G	ENST00000202967.4	+	0	1178				SIRT4_ENST00000537892.1_3'UTR|RNU6-1088P_ENST00000516850.1_RNA	NM_012240.2	NP_036372.1			sirtuin 4											haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATTAAAACTCatttttttta	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.*174C>G	12.37:g.120751013C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000202967.4	37	NULL	CCDS9194.1	12																																																																																			SIRT4	-	-		0.333	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT4	HGNC	protein_coding	OTTHUMT00000402003.1	C	NM_012240		120751013	+1	no_errors	ENST00000537892	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC12A7	10723	genome.wustl.edu	37	5	1076263	1076263	+	Missense_Mutation	SNP	A	A	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:1076263A>T	ENST00000264930.5	-	14	1880	c.1837T>A	c.(1837-1839)Ttc>Atc	p.F613I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	613					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CAGTGGTAGAACTTGAAGCGT	0.642																																																	0													61.0	52.0	55.0					5																	1076263		2196	4296	6492	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1837T>A	5.37:g.1076263A>T	ENSP00000264930:p.Phe613Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F613I	ENST00000264930.5	37	c.1837	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	a	16.34	3.095529	0.56075	.	.	ENSG00000113504	ENST00000264930	D	0.98455	-4.94	4.37	3.15	0.36227	Amino acid permease domain (1);	0.541413	0.19899	N	0.103548	D	0.95868	0.8655	L	0.58101	1.795	0.80722	D	1	P	0.35821	0.523	B	0.32149	0.141	D	0.93203	0.6593	10	0.52906	T	0.07	.	8.377	0.32449	0.8237:0.0:0.0:0.1763	.	613	Q9Y666	S12A7_HUMAN	I	613	ENSP00000264930:F613I	ENSP00000264930:F613I	F	-	1	0	SLC12A7	1129263	1.000000	0.71417	0.742000	0.31022	0.926000	0.56050	8.226000	0.89785	0.588000	0.29660	0.402000	0.26972	TTC	SLC12A7	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	A	NM_006598		1076263	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	missense	SNP	0.995	T
SKIV2L2	23517	genome.wustl.edu	37	5	54618187	54618187	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:54618187C>G	ENST00000230640.5	+	2	421	c.167C>G	c.(166-168)tCa>tGa	p.S56*	SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_Intron	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	56					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CAATCAGAATCAACTAATAAT	0.328																																					Melanoma(2;92 134 23744 29976 33782)												0													89.0	99.0	96.0					5																	54618187		2203	4299	6502	SO:0001587	stop_gained	23517			D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.167C>G	5.37:g.54618187C>G	ENSP00000230640:p.Ser56*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Nonsense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S56*	ENST00000230640.5	37	c.167	CCDS3967.1	5	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001789	0.93227	.	.	ENSG00000039123	ENST00000230640	.	.	.	5.66	5.66	0.87406	.	0.235070	0.34580	N	0.003854	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-3.6695	18.5109	0.90916	0.0:1.0:0.0:0.0	.	.	.	.	X	56	.	ENSP00000230640:S56X	S	+	2	0	SKIV2L2	54653944	0.029000	0.19370	0.436000	0.26797	0.971000	0.66376	2.600000	0.46240	2.649000	0.89929	0.563000	0.77884	TCA	SKIV2L2	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.328	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L2	HGNC	protein_coding	OTTHUMT00000214108.1	C			54618187	+1	no_errors	ENST00000230640	ensembl	human	known	70_37	nonsense	SNP	0.164	G
SLC16A5	9121	genome.wustl.edu	37	17	73094242	73094242	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:73094242C>T	ENST00000450736.2	+	3	724	c.309C>T	c.(307-309)ctC>ctT	p.L103L	SLC16A5_ENST00000580123.1_Silent_p.L103L|SLC16A5_ENST00000329783.4_Silent_p.L103L|SLC16A5_ENST00000538213.2_Silent_p.L143L|SLC16A5_ENST00000585293.1_3'UTR			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	103					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTCACAACCTCAGCCAGCTCT	0.577																																																	0													117.0	118.0	118.0					17																	73094242		2203	4300	6503	SO:0001819	synonymous_variant	9121			U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.309C>T	17.37:g.73094242C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E288	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.L103	ENST00000450736.2	37	c.309	CCDS11713.1	17																																																																																			SLC16A5	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.577	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	HGNC	protein_coding	OTTHUMT00000445547.1	C	NM_004695		73094242	+1	no_errors	ENST00000329783	ensembl	human	known	70_37	silent	SNP	0.604	T
SLC17A9	63910	genome.wustl.edu	37	20	61595652	61595652	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:61595652C>G	ENST00000370351.4	+	8	1026	c.895C>G	c.(895-897)Cat>Gat	p.H299D	SLC17A9_ENST00000370349.3_Missense_Mutation_p.H293D|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	299					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCTCTCTGATCATCTCATCAA	0.612																																																	0													171.0	184.0	180.0					20																	61595652		2014	4170	6184	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.895C>G	20.37:g.61595652C>G	ENSP00000359376:p.His299Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.H299D	ENST00000370351.4	37	c.895	CCDS42901.1	20	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397658	0.25205	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.57752	0.38;0.38	4.8	4.8	0.61643	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.203738	0.51477	D	0.000091	T	0.51805	0.1696	L	0.60455	1.87	0.41042	D	0.985239	B;B;B	0.31503	0.326;0.004;0.003	B;B;B	0.38156	0.266;0.027;0.016	T	0.52381	-0.8583	10	0.35671	T	0.21	.	11.4347	0.50062	0.0:0.9169:0.0:0.0831	.	319;299;293	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	D	299;293	ENSP00000359376:H299D;ENSP00000359374:H293D	ENSP00000359374:H293D	H	+	1	0	SLC17A9	61066097	0.998000	0.40836	0.190000	0.23270	0.162000	0.22319	3.434000	0.52841	2.228000	0.72767	0.555000	0.69702	CAT	SLC17A9	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.612	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A9	HGNC	protein_coding	OTTHUMT00000080100.1	C	NM_022082		61595652	+1	no_errors	ENST00000370351	ensembl	human	known	70_37	missense	SNP	0.997	G
SLC22A16	85413	genome.wustl.edu	37	6	110759974	110759974	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:110759974G>A	ENST00000368919.3	-	5	1326	c.1260C>T	c.(1258-1260)taC>taT	p.Y420Y	SLC22A16_ENST00000439654.1_Silent_p.Y420Y|SLC22A16_ENST00000330550.4_Silent_p.Y386Y|RN7SL617P_ENST00000485298.2_RNA	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	420					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGAAAAGAGAGTAGGCCAGGA	0.498																																																	0													174.0	137.0	150.0					6																	110759974		2203	4300	6503	SO:0001819	synonymous_variant	85413				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1260C>T	6.37:g.110759974G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y420	ENST00000368919.3	37	c.1260	CCDS5084.1	6																																																																																			SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.498	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	G	NM_033125		110759974	-1	no_errors	ENST00000368919	ensembl	human	known	70_37	silent	SNP	0.002	A
SLC18B1	116843	genome.wustl.edu	37	6	133111403	133111403	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:133111403C>G	ENST00000275227.4	-	3	288	c.192G>C	c.(190-192)aaG>aaC	p.K64N	SLC18B1_ENST00000538764.1_5'UTR|SLC18B1_ENST00000367918.1_Missense_Mutation_p.K64N|SLC18B1_ENST00000460518.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	64					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											TGGCTCCCTTCTTTTCAGCCT	0.333																																																	0													62.0	59.0	60.0					6																	133111403		2195	4291	6486	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.192G>C	6.37:g.133111403C>G	ENSP00000275227:p.Lys64Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.K64N	ENST00000275227.4	37	c.192	CCDS5163.1	6	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250827	0.39797	.	.	ENSG00000146409	ENST00000367919;ENST00000275227;ENST00000367918	T;T	0.58506	0.4;0.33	4.97	1.6	0.23607	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.089377	0.85682	N	0.000000	T	0.33818	0.0876	M	0.64404	1.975	0.80722	D	1	B	0.21452	0.056	B	0.30646	0.118	T	0.14587	-1.0467	10	0.28530	T	0.3	-8.9914	6.6056	0.22724	0.0:0.6093:0.1486:0.2421	.	64	Q6NT16	CF192_HUMAN	N	64	ENSP00000275227:K64N;ENSP00000356895:K64N	ENSP00000275227:K64N	K	-	3	2	C6orf192	133153096	0.991000	0.36638	1.000000	0.80357	0.891000	0.51852	0.254000	0.18314	0.581000	0.29539	-0.137000	0.14449	AAG	SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.333	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	C	NM_052831		133111403	-1	no_errors	ENST00000275227	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC22A24	283238	genome.wustl.edu	37	11	62886398	62886398	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:62886398G>C	ENST00000417740.1	-	4	1257	c.816C>G	c.(814-816)ctC>ctG	p.L272L	SLC22A24_ENST00000326192.5_Silent_p.L272L	NM_001136506.2	NP_001129978.2	Q8N4F4	S22AO_HUMAN	solute carrier family 22, member 24	272					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				kidney(1)|stomach(1)	2						AGGACAAGAAGAGGACAATTA	0.473																																																	0													194.0	165.0	174.0					11																	62886398		692	1591	2283	SO:0001819	synonymous_variant	283238				CCDS73308.1	11q12.3	2013-05-22			ENSG00000197658	ENSG00000197658		"""Solute carriers"""	28542	protein-coding gene	gene with protein product		611698				17714910	Standard	NM_001136506		Approved	MGC34821, NET46	uc021qkp.1	Q8N4F4	OTTHUMG00000165372	ENST00000417740.1:c.816C>G	11.37:g.62886398G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L272	ENST00000417740.1	37	c.816		11																																																																																			SLC22A24	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.473	SLC22A24-003	PUTATIVE	non_canonical_polymorphism|basic|appris_principal|exp_conf	protein_coding	SLC22A24	HGNC	protein_coding	OTTHUMT00000383747.1	G	NM_173586		62886398	-1	no_errors	ENST00000326192	ensembl	human	known	70_37	silent	SNP	0.015	C
SLC22A9	114571	genome.wustl.edu	37	11	63176208	63176208	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:63176208C>G	ENST00000279178.3	+	9	1707	c.1458C>G	c.(1456-1458)ctC>ctG	p.L486L	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	486					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TGGCTCCCCTCATGATGATCC	0.468																																																	0													139.0	124.0	129.0					11																	63176208		2201	4298	6499	SO:0001819	synonymous_variant	114571			AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.1458C>G	11.37:g.63176208C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L486	ENST00000279178.3	37	c.1458	CCDS8043.1	11																																																																																			SLC22A9	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.468	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A9	HGNC	protein_coding	OTTHUMT00000396371.1	C	NM_080866		63176208	+1	no_errors	ENST00000279178	ensembl	human	known	70_37	silent	SNP	0.476	G
SLC25A14	9016	genome.wustl.edu	37	X	129499593	129499593	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:129499593G>C	ENST00000218197.5	+	8	1025	c.798G>C	c.(796-798)caG>caC	p.Q266H	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.Q294H|SLC25A14_ENST00000361980.5_Missense_Mutation_p.Q263H	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	266					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGATGAACCAGAGGGCAATCG	0.448																																																	0													279.0	239.0	253.0					X																	129499593		2203	4300	6503	SO:0001583	missense	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.798G>C	X.37:g.129499593G>C	ENSP00000218197:p.Gln266His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q294H	ENST00000218197.5	37	c.882	CCDS14623.1	X	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331899	0.60853	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	T;T;T	0.80033	-1.33;-1.33;-1.33	4.91	3.15	0.36227	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86255	0.5889	M	0.87682	2.9	0.80722	D	1	P;P;P	0.46912	0.862;0.862;0.886	P;P;P	0.54174	0.447;0.627;0.744	D	0.85034	0.0919	10	0.72032	D	0.01	-7.4235	7.5003	0.27513	0.279:0.0:0.721:0.0	.	294;263;266	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	H	266;263;294	ENSP00000218197:Q266H;ENSP00000354455:Q263H;ENSP00000342797:Q294H	ENSP00000218197:Q266H	Q	+	3	2	SLC25A14	129327274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.917000	0.63369	0.502000	0.28037	0.594000	0.82650	CAG	SLC25A14	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.448	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A14	HGNC	protein_coding	OTTHUMT00000058253.1	G	NM_022810, NM_003951		129499593	+1	no_errors	ENST00000339231	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC25A38	54977	genome.wustl.edu	37	3	39433016	39433016	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:39433016C>G	ENST00000273158.4	+	4	738	c.361C>G	c.(361-363)Cca>Gca	p.P121A		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGCCATCCCCCAACCGCCCT	0.537																																																	0													172.0	189.0	183.0					3																	39433016		2203	4300	6503	SO:0001583	missense	54977			BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.361C>G	3.37:g.39433016C>G	ENSP00000273158:p.Pro121Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.P121A	ENST00000273158.4	37	c.361	CCDS2685.1	3	.	.	.	.	.	.	.	.	.	.	c	12.87	2.068561	0.36470	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.78364	-1.17;-1.15	5.17	5.17	0.71159	Mitochondrial carrier domain (2);	0.097562	0.64402	D	0.000001	T	0.81475	0.4830	M	0.77712	2.385	0.58432	D	0.999999	B	0.34241	0.444	B	0.44224	0.444	T	0.77199	-0.2675	10	0.10902	T	0.67	-26.4226	16.1545	0.81646	0.0:1.0:0.0:0.0	.	121	Q96DW6	S2538_HUMAN	A	121;117	ENSP00000273158:P121A;ENSP00000394244:P117A	ENSP00000273158:P121A	P	+	1	0	SLC25A38	39408020	1.000000	0.71417	0.949000	0.38748	0.816000	0.46133	5.703000	0.68340	2.411000	0.81874	0.655000	0.94253	CCA	SLC25A38	-	superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.537	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A38	HGNC	protein_coding	OTTHUMT00000254057.3	C	NM_017875		39433016	+1	no_errors	ENST00000273158	ensembl	human	known	70_37	missense	SNP	0.994	G
SLC25A42	284439	genome.wustl.edu	37	19	19221580	19221580	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:19221580C>T	ENST00000318596.7	+	8	1003	c.852C>T	c.(850-852)ctC>ctT	p.L284L		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	284					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGCGCGGCCTCTACAAAGGCT	0.687																																																	0													44.0	34.0	37.0					19																	19221580		2203	4300	6503	SO:0001819	synonymous_variant	284439				CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.852C>T	19.37:g.19221580C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D2T2J5|O14553|O43378	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC	p.L284	ENST00000318596.7	37	c.852	CCDS32966.1	19																																																																																			SLC25A42	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC		0.687	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A42	HGNC	protein_coding	OTTHUMT00000465931.1	C	NM_178526		19221580	+1	no_errors	ENST00000318596	ensembl	human	known	70_37	silent	SNP	0.994	T
SLC25A52	147407	genome.wustl.edu	37	18	29340254	29340254	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:29340254G>A	ENST00000579441.2	-	1	370	c.371C>T	c.(370-372)gCg>gTg	p.A124V	SLC25A52_ENST00000269205.5_Missense_Mutation_p.A134V			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	124					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AAGCACTGCCGCCACGCCATG	0.473																																																	0													129.0	124.0	126.0					18																	29340254		2203	4300	6503	SO:0001583	missense	147407				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.371C>T	18.37:g.29340254G>A	ENSP00000462754:p.Ala124Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A134V	ENST00000579441.2	37	c.401		18	.	.	.	.	.	.	.	.	.	.	G	15.71	2.914366	0.52546	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	D	0.82081	-1.57	1.22	0.271	0.15640	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90225	0.6944	M	0.92219	3.285	0.58432	D	0.999997	D	0.76494	0.999	D	0.71870	0.975	D	0.87067	0.2157	10	0.87932	D	0	.	5.5522	0.17097	0.2156:0.0:0.7844:0.0	.	124	Q3SY17	MCAR2_HUMAN	V	134;124	ENSP00000372612:A134V	ENSP00000372612:A134V	A	-	2	0	MCART2	27594252	1.000000	0.71417	0.055000	0.19348	0.074000	0.17049	6.039000	0.70972	0.084000	0.17077	0.505000	0.49811	GCG	SLC25A52	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.473	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	SLC25A52	HGNC	protein_coding		G	XM_084000		29340254	-1	no_errors	ENST00000269205	ensembl	human	known	70_37	missense	SNP	0.997	A
SLC26A1	10861	genome.wustl.edu	37	4	983329	983329	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:983329C>T	ENST00000361661.2	-	4	1775	c.1398G>A	c.(1396-1398)atG>atA	p.M466I	SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_3'UTR|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.M466I|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	466					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CAGCCGGGCTCATCCGCCACA	0.697																																																	0													5.0	7.0	6.0					4																	983329		2094	4101	6195	SO:0001583	missense	10861			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.1398G>A	4.37:g.983329C>T	ENSP00000354721:p.Met466Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9N2|Q7Z5R3|Q96BK0	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.M466I	ENST00000361661.2	37	c.1398	CCDS33934.1	4	.	.	.	.	.	.	.	.	.	.	C	2.527	-0.309435	0.05458	.	.	ENSG00000145217	ENST00000361661;ENST00000398516	D;D	0.92348	-3.02;-3.02	5.14	0.23	0.15372	Sulphate transporter (1);	0.449907	0.24014	N	0.042344	T	0.73087	0.3542	N	0.01618	-0.8	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.53129	-0.8482	10	0.16896	T;T	0.51;0.51	.	6.0173	0.19611	0.0:0.3307:0.3118:0.3575	.	466	Q9H2B4	S26A1_HUMAN	I	466	ENSP00000354721:M466I;ENSP00000381528:M466I	ENSP00000354721:M466I;ENSP00000354721:M466I	M	-	3	0	SLC26A1	973329	0.004000	0.15560	0.985000	0.45067	0.119000	0.20118	-0.240000	0.08952	-0.448000	0.07128	-0.266000	0.10368	ATG	SLC26A1	-	pfam_Sulph_transpt,tigrfam_SulP_transpt		0.697	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A1	HGNC	protein_coding	OTTHUMT00000358783.1	C	NM_022042, NM_134425		983329	-1	no_errors	ENST00000361661	ensembl	human	known	70_37	missense	SNP	0.799	T
SLC29A1	2030	genome.wustl.edu	37	6	44201202	44201202	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:44201202C>T	ENST00000393841.1	+	14	1799	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	SLC29A1_ENST00000371755.3_Silent_p.F436F|SLC29A1_ENST00000371731.1_Silent_p.F436F|SLC29A1_ENST00000371740.5_Silent_p.F436F|SLC29A1_ENST00000371708.1_Silent_p.F436F|SLC29A1_ENST00000371713.1_Silent_p.F436F|SLC29A1_ENST00000393844.1_Silent_p.F436F|SLC29A1_ENST00000371724.1_Silent_p.F436F|SLC29A1_ENST00000427851.2_Silent_p.F436F|SLC29A1_ENST00000313248.7_Silent_p.F515F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	436					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCATGGCCTTCTTCCTGTGTC	0.587																																																	0													177.0	161.0	166.0					6																	44201202		2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1308C>T	6.37:g.44201202C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.F515	ENST00000393841.1	37	c.1545	CCDS4908.1	6																																																																																			SLC29A1	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt		0.587	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	C			44201202	+1	no_errors	ENST00000313248	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC29A4	222962	genome.wustl.edu	37	7	5327568	5327568	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:5327568C>G	ENST00000396872.3	+	2	282	c.121C>G	c.(121-123)Cag>Gag	p.Q41E	SLC29A4_ENST00000297195.4_Missense_Mutation_p.Q41E|SLC29A4_ENST00000406453.3_Missense_Mutation_p.Q41E			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	41				Q -> R (in Ref. 2; BAC03836). {ECO:0000305}.	transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GGAGGCGGCTCAGGGCCAGGG	0.667																																																	0													21.0	23.0	22.0					7																	5327568		2201	4292	6493	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.121C>G	7.37:g.5327568C>G	ENSP00000380081:p.Gln41Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.Q41E	ENST00000396872.3	37	c.121	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	C	9.896	1.205574	0.22205	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	3.89	2.99	0.34606	.	3.301720	0.01219	N	0.008059	T	0.35740	0.0942	L	0.41027	1.25	0.09310	N	1	B;B	0.33549	0.417;0.094	B;B	0.33454	0.164;0.039	T	0.31916	-0.9926	10	0.02654	T	1	-9.0266	11.6736	0.51417	0.0:0.8205:0.1795:0.0	.	41;41	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	E	41	ENSP00000406803:Q41E;ENSP00000380081:Q41E;ENSP00000413271:Q41E;ENSP00000297195:Q41E;ENSP00000385845:Q41E	ENSP00000297195:Q41E	Q	+	1	0	SLC29A4	5294094	0.927000	0.31430	0.002000	0.10522	0.059000	0.15707	1.057000	0.30492	0.589000	0.29677	0.484000	0.47621	CAG	SLC29A4	-	NULL		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5327568	+1	no_errors	ENST00000297195	ensembl	human	known	70_37	missense	SNP	0.078	G
SLC29A4	222962	genome.wustl.edu	37	7	5340178	5340178	+	Missense_Mutation	SNP	C	C	A	rs146929623		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:5340178C>A	ENST00000396872.3	+	10	1496	c.1335C>A	c.(1333-1335)caC>caA	p.H445Q	SLC29A4_ENST00000297195.4_Missense_Mutation_p.H445Q|SLC29A4_ENST00000406453.3_Missense_Mutation_p.H431Q|SLC29A4_ENST00000439491.2_3'UTR			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	445					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	CCCTCCGTCACCCCGCCTGGC	0.667																																																	0													135.0	125.0	128.0					7																	5340178		2203	4300	6503	SO:0001583	missense	222962			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.1335C>A	7.37:g.5340178C>A	ENSP00000380081:p.His445Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.H445Q	ENST00000396872.3	37	c.1335	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	.	16.75	3.210239	0.58343	.	.	ENSG00000164638	ENST00000396872;ENST00000297195;ENST00000406453	T;T;T	0.80738	-1.41;-1.41;-1.41	4.42	4.42	0.53409	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.86908	0.6046	L	0.60455	1.87	0.53005	D	0.999969	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.982	D	0.85912	0.1441	10	0.34782	T	0.22	-39.4984	15.2091	0.73206	0.0:1.0:0.0:0.0	.	431;445	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	Q	445;445;431	ENSP00000380081:H445Q;ENSP00000297195:H445Q;ENSP00000385845:H431Q	ENSP00000297195:H445Q	H	+	3	2	SLC29A4	5306704	1.000000	0.71417	0.999000	0.59377	0.797000	0.45037	2.152000	0.42272	2.010000	0.58986	0.561000	0.74099	CAC	SLC29A4	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt		0.667	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	C	NM_153247		5340178	+1	no_errors	ENST00000297195	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC38A2	54407	genome.wustl.edu	37	12	46756857	46756857	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:46756857G>A	ENST00000256689.5	-	13	1570	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	SLC38A2_ENST00000551374.1_Missense_Mutation_p.R214C|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	376					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACAGCCAGACGGACAATGAGA	0.398																																					Ovarian(9;448 492 8335 28722 40361)												0													146.0	131.0	136.0					12																	46756857		2203	4299	6502	SO:0001583	missense	54407			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1126C>T	12.37:g.46756857G>A	ENSP00000256689:p.Arg376Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R376C	ENST00000256689.5	37	c.1126	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634328	0.87660	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02709	4.19;4.19	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.21631	0.0521	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;D;D	0.91635	0.966;0.962;0.999	T	0.01004	-1.1484	10	0.87932	D	0	-11.206	14.839	0.70209	0.0:0.0:0.8562:0.1438	.	214;276;376	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	C	376;214	ENSP00000256689:R376C;ENSP00000450406:R214C	ENSP00000256689:R376C	R	-	1	0	SLC38A2	45043124	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.202000	0.72131	2.729000	0.93468	0.563000	0.77884	CGT	SLC38A2	-	pfam_AA_transpt_TM		0.398	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	G			46756857	-1	no_errors	ENST00000256689	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC39A7	7922	genome.wustl.edu	37	6	33171909	33171909	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33171909C>G	ENST00000374677.3	+	0	2102				HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000374675.3_3'UTR|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7						transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCCACCTGTTCTCGGAGAACC	0.552																																																	0																																										SO:0001624	3_prime_UTR_variant	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.*319C>G	6.37:g.33171909C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0UXF6|Q5STP8|Q9UIQ0	RNA	SNP	-	NULL	ENST00000374677.3	37	NULL	CCDS43453.1	6																																																																																			SLC39A7	-	-		0.552	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	C	NM_006979		33171909	+1	no_errors	ENST00000463972	ensembl	human	putative	70_37	rna	SNP	0.020	G
SLC43A1	8501	genome.wustl.edu	37	11	57256402	57256402	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:57256402G>A	ENST00000278426.3	-	13	1751	c.1396C>T	c.(1396-1398)Ctc>Ttc	p.L466F	SLC43A1_ENST00000528450.1_Missense_Mutation_p.L466F|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GCAGCATAGAGACTCCCACAG	0.517																																																	0													150.0	141.0	144.0					11																	57256402		2201	4296	6497	SO:0001583	missense	8501			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1396C>T	11.37:g.57256402G>A	ENSP00000278426:p.Leu466Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L466F	ENST00000278426.3	37	c.1396	CCDS7958.1	11	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310385	0.60414	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.60920	0.15;0.15	4.93	4.93	0.64822	Major facilitator superfamily domain, general substrate transporter (1);	0.078772	0.52532	D	0.000069	T	0.71013	0.3290	M	0.67700	2.07	0.51767	D	0.999934	D	0.76494	0.999	D	0.70935	0.971	T	0.66646	-0.5871	10	0.11182	T	0.66	-27.3128	16.951	0.86245	0.0:0.0:1.0:0.0	.	466	O75387	LAT3_HUMAN	F	466	ENSP00000278426:L466F;ENSP00000435673:L466F	ENSP00000278426:L466F	L	-	1	0	SLC43A1	57012978	1.000000	0.71417	0.964000	0.40570	0.576000	0.36127	8.897000	0.92532	2.298000	0.77334	0.650000	0.86243	CTC	SLC43A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.517	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	HGNC	protein_coding	OTTHUMT00000392541.1	G	NM_003627		57256402	-1	no_errors	ENST00000278426	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC4A10	57282	genome.wustl.edu	37	2	162833298	162833298	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:162833298G>C	ENST00000446997.1	+	25	3349	c.3256G>C	c.(3256-3258)Gat>Cat	p.D1086H	SLC4A10_ENST00000272716.5_Missense_Mutation_p.D1056H|SLC4A10_ENST00000375514.5_Missense_Mutation_p.D1067H|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D1056H	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1086					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CAATATATCTGATGAAATGTC	0.358																																																	0													57.0	53.0	54.0					2																	162833298		1840	4083	5923	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3256G>C	2.37:g.162833298G>C	ENSP00000393066:p.Asp1086His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.D1086H	ENST00000446997.1	37	c.3256	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514908	0.85389	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000415711	T;T;T;T	0.80909	-1.43;-1.42;-1.41;-1.42	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.95	D	0.89198	0.3555	10	0.49607	T	0.09	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	1067;1056;1086	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	H	1067;1056;1056;1055;1086;1085	ENSP00000364664:D1067H;ENSP00000395797:D1056H;ENSP00000272716:D1056H;ENSP00000393066:D1086H	ENSP00000272716:D1056H	D	+	1	0	SLC4A10	162541544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.159000	0.77483	2.861000	0.98227	0.655000	0.94253	GAT	SLC4A10	-	NULL		0.358	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162833298	+1	no_errors	ENST00000446997	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC4A11	83959	genome.wustl.edu	37	20	3214933	3214933	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3214933C>G	ENST00000380056.3	-	4	414	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	SLC4A11_ENST00000380059.3_Missense_Mutation_p.E150Q|SLC4A11_ENST00000539553.2_Missense_Mutation_p.E107Q	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	123					bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCACGGATCTCTTCCTTGAAG	0.602																																					NSCLC(190;922 2139 10266 10292 38692)												0													76.0	72.0	74.0					20																	3214933		2203	4300	6503	SO:0001583	missense	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.367G>C	20.37:g.3214933C>G	ENSP00000369396:p.Glu123Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.E150Q	ENST00000380056.3	37	c.448	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675925	0.88445	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.93763	-2.5;-2.45;-2.42;-3.28	5.2	4.26	0.50523	Phosphotransferase/anion transporter (1);	0.138191	0.44285	D	0.000463	D	0.95900	0.8665	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.95960	0.8961	10	0.87932	D	0	.	12.8286	0.57735	0.0:0.921:0.0:0.079	.	107;150;123	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	Q	150;123;107;107	ENSP00000369399:E150Q;ENSP00000369396:E123Q;ENSP00000441370:E107Q;ENSP00000404271:E107Q	ENSP00000369396:E123Q	E	-	1	0	SLC4A11	3162933	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.431000	0.80335	1.191000	0.43056	0.655000	0.94253	GAG	SLC4A11	-	superfamily_PTrfase/Anion_transptr		0.602	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	C			3214933	-1	no_errors	ENST00000380059	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC4A5	57835	genome.wustl.edu	37	2	74486733	74486733	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74486733G>A	ENST00000377634.4	-	12	1248	c.849C>T	c.(847-849)ctC>ctT	p.L283L	SLC4A5_ENST00000358683.4_Silent_p.L219L|SLC4A5_ENST00000346834.4_Silent_p.L283L|SLC4A5_ENST00000423644.1_Silent_p.L283L|SLC4A5_ENST00000377632.1_Silent_p.L283L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Silent_p.L283L|SLC4A5_ENST00000394019.2_Silent_p.L283L|SLC4A5_ENST00000359484.4_Silent_p.L219L|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGTTTGGGGTGAGAGAAATGT	0.507																																																	0													254.0	225.0	235.0					2																	74486733		2203	4300	6503	SO:0001819	synonymous_variant	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.849C>T	2.37:g.74486733G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.L283	ENST00000377634.4	37	c.849	CCDS1936.1	2																																																																																			SLC4A5	-	pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk		0.507	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A5	HGNC	protein_coding	OTTHUMT00000206583.3	G			74486733	-1	no_errors	ENST00000357822	ensembl	human	known	70_37	silent	SNP	0.970	A
SLC5A2	6524	genome.wustl.edu	37	16	31501802	31501802	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31501802C>G	ENST00000330498.3	+	14	1984	c.1965C>G	c.(1963-1965)ctC>ctG	p.L655L	C16orf58_ENST00000327237.2_3'UTR|C16orf58_ENST00000570164.1_3'UTR|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000567994.1_3'UTR|SLC5A2_ENST00000564197.1_Intron	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	655					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TGGTCAACCTCAATGCCCTGC	0.632																																																	0													68.0	63.0	65.0					16																	31501802		2197	4300	6497	SO:0001819	synonymous_variant	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1965C>G	16.37:g.31501802C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRD2	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.L655	ENST00000330498.3	37	c.1965	CCDS10714.1	16																																																																																			SLC5A2	-	NULL		0.632	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A2	HGNC	protein_coding	OTTHUMT00000255627.2	C			31501802	+1	no_errors	ENST00000330498	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC6A14	11254	genome.wustl.edu	37	X	115582693	115582693	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:115582693C>G	ENST00000371900.4	+	8	1105	c.1017C>G	c.(1015-1017)ttC>ttG	p.F339L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	339					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ACAATAAGTTCAAAAACAACT	0.393																																																	0													164.0	142.0	149.0					X																	115582693		2203	4300	6503	SO:0001583	missense	11254			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1017C>G	X.37:g.115582693C>G	ENSP00000360967:p.Phe339Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H942	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.F339L	ENST00000371900.4	37	c.1017	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751042	0.69533	.	.	ENSG00000087916	ENST00000371900	T	0.75260	-0.92	5.44	3.33	0.38152	.	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	M	0.86343	2.81	0.43579	D	0.995916	D	0.89917	1.0	D	0.91635	0.999	D	0.86481	0.1791	10	0.87932	D	0	.	9.5662	0.39400	0.0:0.7875:0.0:0.2125	.	339	Q9UN76	S6A14_HUMAN	L	339	ENSP00000360967:F339L	ENSP00000360967:F339L	F	+	3	2	SLC6A14	115496721	0.998000	0.40836	0.999000	0.59377	0.995000	0.86356	0.562000	0.23531	1.052000	0.40392	0.544000	0.68410	TTC	SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.393	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	C			115582693	+1	no_errors	ENST00000371900	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC9A2	6549	genome.wustl.edu	37	2	103299770	103299770	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:103299770C>T	ENST00000233969.2	+	4	1197	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	352					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAAAATGTATCTCAGAAATCC	0.403																																																	0													149.0	130.0	137.0					2																	103299770		2203	4300	6503	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1055C>T	2.37:g.103299770C>T	ENSP00000233969:p.Ser352Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S352F	ENST00000233969.2	37	c.1055	CCDS2062.1	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300017	0.81136	.	.	ENSG00000115616	ENST00000233969	T	0.18810	2.19	5.43	5.43	0.79202	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.62829	0.2460	H	0.96208	3.785	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.76000	-0.3119	10	0.87932	D	0	.	19.2349	0.93855	0.0:1.0:0.0:0.0	.	352	Q9UBY0	SL9A2_HUMAN	F	352	ENSP00000233969:S352F	ENSP00000233969:S352F	S	+	2	0	SLC9A2	102666202	1.000000	0.71417	0.983000	0.44433	0.976000	0.68499	6.012000	0.70767	2.571000	0.86741	0.561000	0.74099	TCT	SLC9A2	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.403	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103299770	+1	no_errors	ENST00000233969	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC9A2	6549	genome.wustl.edu	37	2	103318928	103318928	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:103318928C>G	ENST00000233969.2	+	9	1954	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	604					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTCGAGAACTCTTATCAAGAA	0.338																																																	0													76.0	83.0	80.0					2																	103318928		2203	4300	6503	SO:0001819	synonymous_variant	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1812C>G	2.37:g.103318928C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.L604	ENST00000233969.2	37	c.1812	CCDS2062.1	2																																																																																			SLC9A2	-	prints_Na/H_exchanger_2,tigrfam_NaH_exchanger		0.338	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103318928	+1	no_errors	ENST00000233969	ensembl	human	known	70_37	silent	SNP	0.811	G
SLC9A6	10479	genome.wustl.edu	37	X	135067841	135067841	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:135067841G>C	ENST00000370698.3	+	1	215	c.180G>C	c.(178-180)gaG>gaC	p.E60D	SLC9A6_ENST00000370695.4_Missense_Mutation_p.E60D|SLC9A6_ENST00000370701.1_Missense_Mutation_p.E8D	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	60					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCGTGTCCGAGAAGCAAGCCG	0.622																																																	0													101.0	93.0	96.0					X																	135067841		2203	4300	6503	SO:0001583	missense	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.180G>C	X.37:g.135067841G>C	ENSP00000359732:p.Glu60Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.E60D	ENST00000370698.3	37	c.180	CCDS14654.1	X	.	.	.	.	.	.	.	.	.	.	g	17.89	3.498755	0.64298	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.58652	0.46;0.32;0.46	4.71	4.71	0.59529	.	0.273612	0.42548	D	0.000697	T	0.69575	0.3126	L	0.57536	1.79	0.50467	D	0.999878	P;P;P	0.49307	0.873;0.922;0.709	P;D;B	0.63877	0.728;0.919;0.217	T	0.65874	-0.6062	10	0.22109	T	0.4	.	15.7741	0.78198	0.0:0.0:1.0:0.0	.	8;60;60	B4DU30;Q92581-2;Q92581	.;.;SL9A6_HUMAN	D	8;60;60	ENSP00000359735:E8D;ENSP00000359732:E60D;ENSP00000359729:E60D	ENSP00000359729:E60D	E	+	3	2	SLC9A6	134895507	1.000000	0.71417	0.999000	0.59377	0.943000	0.58893	4.018000	0.57174	1.913000	0.55393	0.373000	0.22412	GAG	SLC9A6	-	prints_Na/H_exchanger_6		0.622	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	G	NM_006359		135067841	+1	no_errors	ENST00000370695	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC9A7P1	121456	genome.wustl.edu	37	12	98850422	98850422	+	RNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:98850422C>G	ENST00000554295.1	-	0	501					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GGGCTGATTTCTCTTTTCAGG	0.443																																																	0																																												121456					12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98850422C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000554295.1	37	NULL		12																																																																																			SLC9A7P1	-	-		0.443	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	SLC9A7P1	HGNC	pseudogene	OTTHUMT00000409869.1	C			98850422	-1	no_errors	ENST00000554295	ensembl	human	putative	70_37	rna	SNP	1.000	G
SLCO2A1	6578	genome.wustl.edu	37	3	133661572	133661572	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:133661572G>T	ENST00000310926.4	-	11	1775	c.1502C>A	c.(1501-1503)tCa>tAa	p.S501*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.S425*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	501					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TGTCTTTGCTGAAGCGGATCC	0.522																																																	0													120.0	117.0	118.0					3																	133661572		2203	4300	6503	SO:0001587	stop_gained	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1502C>A	3.37:g.133661572G>T	ENSP00000311291:p.Ser501*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V98|Q8IUN2	Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S501*	ENST00000310926.4	37	c.1502	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738492	0.89573	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.56	5.56	0.83823	.	0.497220	0.22204	N	0.063186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.5387	0.95266	0.0:0.0:1.0:0.0	.	.	.	.	X	501;425	.	ENSP00000311291:S501X	S	-	2	0	SLCO2A1	135144262	0.997000	0.39634	0.177000	0.23020	0.130000	0.20726	4.495000	0.60353	2.634000	0.89283	0.561000	0.74099	TCA	SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.522	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	G	NM_005630		133661572	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	nonsense	SNP	0.295	T
SLCO2A1	6578	genome.wustl.edu	37	3	133664099	133664099	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:133664099G>C	ENST00000310926.4	-	10	1574	c.1301C>G	c.(1300-1302)tCa>tGa	p.S434*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.S358*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	434					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TATAGAACTTGATGTGCTGCC	0.527																																																	0													106.0	116.0	112.0					3																	133664099		2203	4300	6503	SO:0001587	stop_gained	6578				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1301C>G	3.37:g.133664099G>C	ENSP00000311291:p.Ser434*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V98|Q8IUN2	Nonsense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S434*	ENST00000310926.4	37	c.1301	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.753643	0.96890	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	.	.	.	5.3	5.3	0.74995	.	1.119980	0.06457	N	0.728851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.977	0.53098	0.0833:0.0:0.9167:0.0	.	.	.	.	X	434;358	.	ENSP00000311291:S434X	S	-	2	0	SLCO2A1	135146789	0.993000	0.37304	1.000000	0.80357	0.953000	0.61014	1.408000	0.34668	2.661000	0.90470	0.491000	0.48974	TCA	SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.527	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	G	NM_005630		133664099	-1	no_errors	ENST00000310926	ensembl	human	known	70_37	nonsense	SNP	0.998	C
SLIT2	9353	genome.wustl.edu	37	4	20270444	20270444	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:20270444G>A	ENST00000504154.1	+	4	587	c.335G>A	c.(334-336)aGa>aAa	p.R112K	SLIT2_ENST00000273739.5_Missense_Mutation_p.R112K|SLIT2_ENST00000503823.1_Missense_Mutation_p.R112K|SLIT2_ENST00000503837.1_Missense_Mutation_p.R112K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	112					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTTTAAACAGAAATCACCTT	0.388																																																	0													130.0	124.0	126.0					4																	20270444		2203	4299	6502	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.335G>A	4.37:g.20270444G>A	ENSP00000422591:p.Arg112Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R112K	ENST00000504154.1	37	c.335	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417700	0.42918	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42	5.94	3.89	0.44902	.	0.100159	0.64402	N	0.000003	T	0.38639	0.1048	N	0.20574	0.59	0.43187	D	0.995017	B;B	0.23591	0.073;0.088	B;B	0.27076	0.076;0.067	T	0.19778	-1.0295	10	0.30078	T	0.28	.	14.0431	0.64689	0.1438:0.0:0.8562:0.0	.	112;112	O94813-3;O94813	.;SLIT2_HUMAN	K	112;112;112;112;112;73	ENSP00000427548:R112K;ENSP00000422591:R112K;ENSP00000273739:R112K;ENSP00000422261:R112K;ENSP00000426356:R73K	ENSP00000273739:R112K	R	+	2	0	SLIT2	19879542	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.666000	0.46799	1.495000	0.48549	0.643000	0.83706	AGA	SLIT2	-	smart_Leu-rich_rpt_typical-subtyp		0.388	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	G			20270444	+1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	1.000	A
SLIT3	6586	genome.wustl.edu	37	5	168620515	168620515	+	Silent	SNP	C	C	T	rs191850017		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:168620515C>T	ENST00000519560.1	-	4	800	c.381G>A	c.(379-381)ttG>ttA	p.L127L	SLIT3_ENST00000332966.8_Silent_p.L127L|SLIT3_ENST00000404867.3_Silent_p.L127L|SLIT3_ENST00000521130.1_5'UTR	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	127					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGGAAAAGCAATTCTGGAA	0.483																																					Ovarian(29;311 847 10864 17279 24903)												0													158.0	140.0	146.0					5																	168620515		2203	4300	6503	SO:0001819	synonymous_variant	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.381G>A	5.37:g.168620515C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.L127	ENST00000519560.1	37	c.381	CCDS4369.1	5																																																																																			SLIT3	-	smart_Leu-rich_rpt_typical-subtyp		0.483	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168620515	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	silent	SNP	1.000	T
SLK	9748	genome.wustl.edu	37	10	105727567	105727567	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:105727567G>A	ENST00000369755.3	+	1	609	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	SLK_ENST00000335753.4_Missense_Mutation_p.E22K	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	22					apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGCAGTACGAACACGTGAA	0.478																																					NSCLC(111;540 1651 1927 4474 17706)												0													129.0	137.0	134.0					10																	105727567		2203	4300	6503	SO:0001583	missense	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.64G>A	10.37:g.105727567G>A	ENSP00000358770:p.Glu22Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Missense_Mutation	SNP	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom	p.E22K	ENST00000369755.3	37	c.64	CCDS7553.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.216619	0.95104	.	.	ENSG00000065613	ENST00000335753;ENST00000369755	T;T	0.70045	-0.45;-0.45	4.57	2.67	0.31697	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.68593	2.085	0.53005	D	0.999968	D;D	0.76494	0.98;0.999	B;D	0.67900	0.38;0.954	T	0.78388	-0.2223	10	0.66056	D	0.02	.	10.9896	0.47541	0.142:0.0:0.858:0.0	.	22;22	Q9H2G2-2;Q9H2G2	.;SLK_HUMAN	K	22	ENSP00000336824:E22K;ENSP00000358770:E22K	ENSP00000336824:E22K	E	+	1	0	SLK	105717557	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	6.367000	0.73099	2.080000	0.62538	0.313000	0.20887	GAA	SLK	-	superfamily_Kinase-like_dom		0.478	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1	G	NM_014720		105727567	+1	no_errors	ENST00000369755	ensembl	human	known	70_37	missense	SNP	1.000	A
SLTM	79811	genome.wustl.edu	37	15	59186369	59186369	+	Silent	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:59186369T>C	ENST00000380516.2	-	11	1488	c.1401A>G	c.(1399-1401)aaA>aaG	p.K467K	SLTM_ENST00000536328.1_Silent_p.K36K|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	467					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTCATTTCTTTCTTAGAGG	0.308																																																	0													80.0	76.0	77.0					15																	59186369		2189	4288	6477	SO:0001819	synonymous_variant	79811			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1401A>G	15.37:g.59186369T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.K467	ENST00000380516.2	37	c.1401	CCDS10168.2	15																																																																																			SLTM	-	NULL		0.308	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	HGNC	protein_coding	OTTHUMT00000157124.1	T	NM_024755		59186369	-1	no_errors	ENST00000380516	ensembl	human	known	70_37	silent	SNP	1.000	C
SLU7	10569	genome.wustl.edu	37	5	159842242	159842242	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:159842242C>T	ENST00000297151.4	-	2	447	c.60G>A	c.(58-60)atG>atA	p.M20I		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	20					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAAACTCATTTCTTTGG	0.458																																																	0													142.0	139.0	140.0					5																	159842242		2203	4300	6503	SO:0001583	missense	10569			AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.60G>A	5.37:g.159842242C>T	ENSP00000297151:p.Met20Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	pfam_Slu7,superfamily_Znf_CCHC	p.M20I	ENST00000297151.4	37	c.60	CCDS4352.1	5	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271764	0.40194	.	.	ENSG00000164609	ENST00000297151;ENST00000521826;ENST00000519349;ENST00000520664	T;T;T	0.41065	1.61;1.01;1.01	5.68	3.81	0.43845	.	0.175051	0.64402	N	0.000007	T	0.22360	0.0539	N	0.12471	0.22	0.31298	N	0.688623	B	0.02656	0.0	B	0.01281	0.0	T	0.11131	-1.0600	10	0.33940	T	0.23	.	7.6491	0.28337	0.2759:0.6481:0.0:0.076	.	20	O95391	SLU7_HUMAN	I	20	ENSP00000297151:M20I;ENSP00000428943:M20I;ENSP00000429990:M20I	ENSP00000297151:M20I	M	-	3	0	SLU7	159774820	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.596000	0.36718	1.409000	0.46915	0.650000	0.86243	ATG	SLU7	-	NULL		0.458	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLU7	HGNC	protein_coding	OTTHUMT00000252673.1	C	NM_006425		159842242	-1	no_errors	ENST00000297151	ensembl	human	known	70_37	missense	SNP	1.000	T
SMAD2	4087	genome.wustl.edu	37	18	45374926	45374926	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:45374926G>C	ENST00000402690.2	-	8	1311	c.917C>G	c.(916-918)tCa>tGa	p.S306*	SMAD2_ENST00000356825.4_Nonsense_Mutation_p.S276*|SMAD2_ENST00000262160.6_Nonsense_Mutation_p.S306*|SMAD2_ENST00000586040.1_Nonsense_Mutation_p.S276*|SMAD2_ENST00000591214.1_Nonsense_Mutation_p.S276*	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	306	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|cell fate commitment (GO:0045165)|common-partner SMAD protein phosphorylation (GO:0007182)|developmental growth (GO:0048589)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic foregut morphogenesis (GO:0048617)|endoderm formation (GO:0001706)|gastrulation (GO:0007369)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|insulin secretion (GO:0030073)|intracellular signal transduction (GO:0035556)|lung development (GO:0030324)|mesoderm formation (GO:0001707)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|nodal signaling pathway (GO:0038092)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|paraxial mesoderm morphogenesis (GO:0048340)|pericardium development (GO:0060039)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primary miRNA processing (GO:0031053)|regulation of binding (GO:0051098)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to cholesterol (GO:0070723)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein complex assembly (GO:0007183)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	activin responsive factor complex (GO:0032444)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|SMAD2-SMAD3 protein complex (GO:0071144)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|phosphatase binding (GO:0019902)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CTCTGAATTTGATGGGTCTGT	0.398																																																	0													125.0	114.0	118.0					18																	45374926		2203	4300	6503	SO:0001587	stop_gained	4087			U65019	CCDS11934.1	18q21	2006-11-06	2006-11-06	2004-05-26	ENSG00000175387	ENSG00000175387		"""SMADs"""	6768	protein-coding gene	gene with protein product		601366	"""MAD, mothers against decapentaplegic homolog 2 (Drosophila)"", ""SMAD, mothers against DPP homolog 2 (Drosophila)"""	MADH2		8752209, 8673135	Standard	NM_001003652		Approved	MADR2, JV18-1	uc002lcz.4	Q15796	OTTHUMG00000132652	ENST00000402690.2:c.917C>G	18.37:g.45374926G>C	ENSP00000384449:p.Ser306*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S306*	ENST00000402690.2	37	c.917	CCDS11934.1	18	.	.	.	.	.	.	.	.	.	.	G	41	8.634024	0.98895	.	.	ENSG00000175387	ENST00000262160;ENST00000356825;ENST00000402690	.	.	.	5.81	4.94	0.65067	.	0.061117	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6417	0.68729	0.0693:0.0:0.9307:0.0	.	.	.	.	X	306;276;306	.	ENSP00000262160:S306X	S	-	2	0	SMAD2	43628924	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	9.869000	0.99810	1.463000	0.47967	0.591000	0.81541	TCA	SMAD2	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.398	SMAD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD2	HGNC	protein_coding	OTTHUMT00000450571.1	G	NM_005901		45374926	-1	no_errors	ENST00000262160	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SMAD5	4090	genome.wustl.edu	37	5	135489845	135489845	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:135489845G>C	ENST00000545279.1	+	3	756	c.396G>C	c.(394-396)gaG>gaC	p.E132D	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.E132D	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	132	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGAGTGGAGAGTCCAGGTA	0.353																																																	0													31.0	28.0	29.0					5																	135489845		1820	4082	5902	SO:0001583	missense	4090			U59913	CCDS75308.1	5q31	2008-02-05	2006-11-06	2004-05-26		ENSG00000113658		"""SMADs"""	6771	protein-coding gene	gene with protein product		603110	"""MAD, mothers against decapentaplegic homolog 5 (Drosophila)"", ""SMAD, mothers against DPP homolog 5 (Drosophila)"""	MADH5		8673135	Standard	NM_005903		Approved	Dwfc, JV5-1	uc003lbl.1	Q99717		ENST00000545279.1:c.396G>C	5.37:g.135489845G>C	ENSP00000441954:p.Glu132Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O14688|Q15798|Q9UQA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.E132D	ENST00000545279.1	37	c.396		5	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798342	0.50208	.	.	ENSG00000113658	ENST00000511116;ENST00000545279;ENST00000545620	T;T;T	0.73047	-0.71;-0.71;-0.71	5.51	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.68128	0.2967	L	0.58583	1.82	0.51767	D	0.999939	B	0.21309	0.054	B	0.32624	0.149	T	0.66228	-0.5976	10	0.48119	T	0.1	.	12.1051	0.53807	0.22:0.0:0.78:0.0	.	132	F5GWU7	.	D	132	ENSP00000424279:E132D;ENSP00000441954:E132D;ENSP00000446474:E132D	ENSP00000424279:E132D	E	+	3	2	SMAD5	135517744	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.140000	0.31516	0.703000	0.31848	0.650000	0.86243	GAG	SMAD5	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.353	SMAD5-201	KNOWN	basic|appris_principal	protein_coding	SMAD5	HGNC	protein_coding		G	NM_005903		135489845	+1	no_errors	ENST00000545279	ensembl	human	known	70_37	missense	SNP	1.000	C
SMC3	9126	genome.wustl.edu	37	10	112343202	112343202	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:112343202G>C	ENST00000361804.4	+	11	991	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	289					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGAAGAAAAAGAACAGCTTAG	0.348																																																	0													79.0	79.0	79.0					10																	112343202		2203	4300	6503	SO:0001583	missense	9126			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.865G>C	10.37:g.112343202G>C	ENSP00000354720:p.Glu289Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K156|O60464|Q5T482	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge	p.E289Q	ENST00000361804.4	37	c.865	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669065	0.67814	.	.	ENSG00000108055	ENST00000361804	T	0.78126	-1.15	5.68	5.68	0.88126	RecF/RecN/SMC (1);	0.104351	0.64402	D	0.000004	T	0.71195	0.3311	N	0.19112	0.55	0.80722	D	1	P	0.43633	0.813	P	0.44647	0.456	T	0.67841	-0.5566	10	0.24483	T	0.36	.	20.1615	0.98135	0.0:0.0:1.0:0.0	.	289	Q9UQE7	SMC3_HUMAN	Q	289	ENSP00000354720:E289Q	ENSP00000354720:E289Q	E	+	1	0	SMC3	112333192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.278000	0.95766	2.835000	0.97688	0.650000	0.86243	GAA	SMC3	-	pfam_RecF/RecN/SMC		0.348	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	HGNC	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112343202	+1	no_errors	ENST00000361804	ensembl	human	known	70_37	missense	SNP	1.000	C
SMCHD1	23347	genome.wustl.edu	37	18	2674066	2674066	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:2674066G>C	ENST00000320876.6	+	5	898	c.560G>C	c.(559-561)aGa>aCa	p.R187T	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R187T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	187					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATAATGGAAGAGGAATGACC	0.353																																																	0													74.0	68.0	70.0					18																	2674066		1843	4086	5929	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.560G>C	18.37:g.2674066G>C	ENSP00000326603:p.Arg187Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.R187T	ENST00000320876.6	37	c.560	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839424	0.71488	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.94613	-3.47;-3.47	5.42	5.42	0.78866	ATPase-like, ATP-binding domain (3);	0.143203	0.52532	D	0.000062	D	0.89560	0.6750	N	0.21142	0.635	0.35250	D	0.778597	P	0.40515	0.719	B	0.39217	0.294	D	0.92746	0.6212	10	0.54805	T	0.06	.	12.5543	0.56244	0.0759:0.0:0.9241:0.0	.	187	A6NHR9	SMHD1_HUMAN	T	187	ENSP00000326603:R187T;ENSP00000261598:R187T	ENSP00000261598:R187T	R	+	2	0	SMCHD1	2664066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.549000	0.85964	0.563000	0.77884	AGA	SMCHD1	-	superfamily_ATPase-like_ATP-bd		0.353	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	G			2674066	+1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	1.000	C
SMOX	54498	genome.wustl.edu	37	20	4162935	4162935	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:4162935C>T	ENST00000305958.4	+	5	1034	c.809C>T	c.(808-810)tCa>tTa	p.S270L	SMOX_ENST00000379460.2_Missense_Mutation_p.S270L|SMOX_ENST00000339123.6_Missense_Mutation_p.S270L|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Missense_Mutation_p.S270L	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	270					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GACCAGGCCTCAGCCCGCCCC	0.687																																																	0													22.0	23.0	22.0					20																	4162935		2203	4300	6503	SO:0001583	missense	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.809C>T	20.37:g.4162935C>T	ENSP00000307252:p.Ser270Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom	p.S270L	ENST00000305958.4	37	c.809	CCDS13075.1	20	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734866	0.30774	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	D;T;D;T;T	0.91295	-2.82;1.89;-2.82;1.89;1.47	4.65	3.7	0.42460	.	0.450365	0.23519	N	0.047310	T	0.79673	0.4486	L	0.34521	1.04	0.32526	N	0.535551	B;P;B;B;B	0.38827	0.006;0.649;0.309;0.008;0.317	B;B;B;B;B	0.28991	0.025;0.097;0.087;0.009;0.046	T	0.77763	-0.2466	10	0.11485	T	0.65	-6.156	8.2789	0.31889	0.0:0.8932:0.0:0.1068	.	247;270;270;270;270	B4DE63;Q9NWM0-6;Q9NWM0;Q9NWM0-2;Q9NWM0-4	.;.;SMOX_HUMAN;.;.	L	270;270;270;270;127	ENSP00000344595:S270L;ENSP00000307252:S270L;ENSP00000278795:S270L;ENSP00000368773:S270L;ENSP00000407269:S127L	ENSP00000278795:S270L	S	+	2	0	SMOX	4110935	0.805000	0.28982	0.980000	0.43619	0.983000	0.72400	1.908000	0.39907	1.192000	0.43071	0.558000	0.71614	TCA	SMOX	-	NULL		0.687	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOX	HGNC	protein_coding	OTTHUMT00000077806.1	C	NM_175842		4162935	+1	no_errors	ENST00000305958	ensembl	human	known	70_37	missense	SNP	0.923	T
SMPD4	55627	genome.wustl.edu	37	2	130910714	130910714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:130910714C>A	ENST00000409031.1	-	19	3321	c.2173G>T	c.(2173-2175)Gag>Tag	p.E725*	SMPD4_ENST00000443958.2_Nonsense_Mutation_p.E389*|SMPD4_ENST00000452225.2_Nonsense_Mutation_p.E466*|SMPD4_ENST00000426662.2_Nonsense_Mutation_p.E361*|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000453750.1_Nonsense_Mutation_p.E474*|SMPD4_ENST00000351288.6_Nonsense_Mutation_p.E696*|SMPD4_ENST00000339679.7_Nonsense_Mutation_p.E583*|SMPD4_ENST00000431183.2_Nonsense_Mutation_p.E623*	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	686					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCCTGGTACTCAATTTCAAAC	0.562																																																	0													56.0	65.0	62.0					2																	130910714		2203	4300	6503	SO:0001587	stop_gained	55627			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2173G>T	2.37:g.130910714C>A	ENSP00000386531:p.Glu725*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Nonsense_Mutation	SNP	NULL	p.E725*	ENST00000409031.1	37	c.2173	CCDS42751.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	37|37	6.411545|6.411545	0.97546|0.97546	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662|ENST00000439886	.|.	.|.	.|.	4.09|4.09	4.09|4.09	0.47781|0.47781	.|.	0.267481|.	0.36303|.	N|.	0.002668|.	.|T	.|0.63248	.|0.2495	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70842	.|-0.4762	.|3	0.06757|.	T|.	0.87|.	.|.	13.8586|13.8586	0.63545|0.63545	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	696;725;623;474;389;583;466;361|599	.|.	ENSP00000339721:E583X|.	E|L	-|-	1|3	0|2	SMPD4|SMPD4	130627184|130627184	0.962000|0.962000	0.33011|0.33011	0.899000|0.899000	0.35326|0.35326	0.319000|0.319000	0.28217|0.28217	1.554000|1.554000	0.36266|0.36266	1.820000|1.820000	0.53075|0.53075	0.549000|0.549000	0.68633|0.68633	GAG|TTG	SMPD4	-	NULL		0.562	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	C	NM_017751		130910714	-1	no_errors	ENST00000409031	ensembl	human	known	70_37	nonsense	SNP	0.996	A
SMPDL3A	10924	genome.wustl.edu	37	6	123130433	123130433	+	Silent	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:123130433T>C	ENST00000368440.4	+	8	1419	c.1242T>C	c.(1240-1242)taT>taC	p.Y414Y	SMPDL3A_ENST00000539041.1_Silent_p.Y283Y	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	414					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTGTGAGTTATGACAGCAGTG	0.328																																																	0													73.0	73.0	73.0					6																	123130433		2203	4300	6503	SO:0001819	synonymous_variant	10924			AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.1242T>C	6.37:g.123130433T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z729|Q8WV13	Silent	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.Y414	ENST00000368440.4	37	c.1242	CCDS5128.1	6																																																																																			SMPDL3A	-	pirsf_ASM-like_Pdiesterase_prd		0.328	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPDL3A	HGNC	protein_coding	OTTHUMT00000042039.1	T	NM_006714		123130433	+1	no_errors	ENST00000368440	ensembl	human	known	70_37	silent	SNP	1.000	C
SMU1	55234	genome.wustl.edu	37	9	33073633	33073633	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:33073633C>T	ENST00000397149.3	-	2	248	c.198G>A	c.(196-198)ctG>ctA	p.L66L	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	66	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTGGCAATTTCAGAGACTGTA	0.483																																																	0													137.0	117.0	124.0					9																	33073633		2203	4299	6502	SO:0001819	synonymous_variant	55234			AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.198G>A	9.37:g.33073633C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	pfam_WD40_repeat,pfam_Nucleoporin_Nup160,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L66	ENST00000397149.3	37	c.198	CCDS6534.1	9																																																																																			SMU1	-	smart_CTLH_C,pfscan_CTLH_C		0.483	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMU1	HGNC	protein_coding	OTTHUMT00000052022.1	C	NM_018225		33073633	-1	no_errors	ENST00000397149	ensembl	human	known	70_37	silent	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25438641	25438641	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:25438641G>C	ENST00000424208.1	+	0	1415				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGAAGCCCTGAAGGGCATCT	0.592																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438641G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-		0.592	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	G			25438641	+1	no_errors	ENST00000456576	ensembl	human	known	70_37	rna	SNP	0.004	C
SNAP23	8773	genome.wustl.edu	37	15	42805600	42805600	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:42805600C>G	ENST00000249647.3	+	4	571	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	SNAP23_ENST00000397138.1_Missense_Mutation_p.Q35E|SNAP23_ENST00000349777.1_Missense_Mutation_p.Q35E|SNAP23_ENST00000564153.1_Missense_Mutation_p.Q35E|SNAP23_ENST00000567094.1_Missense_Mutation_p.Q35E	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	35	t-SNARE coiled-coil homology 1. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		GTCTTAGTCTCAGGATGCAGG	0.368																																																	0													126.0	117.0	120.0					15																	42805600		2203	4299	6502	SO:0001583	missense	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.103C>G	15.37:g.42805600C>G	ENSP00000249647:p.Gln35Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00162|Q13602|Q6IAE3	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.Q35E	ENST00000249647.3	37	c.103	CCDS10087.1	15	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258414	0.39896	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	T;T;T	0.37058	1.22;1.22;1.22	5.64	5.64	0.86602	Target SNARE coiled-coil domain (2);	0.263170	0.44902	D	0.000406	T	0.28928	0.0718	N	0.20328	0.56	0.49130	D	0.999758	B;B	0.13145	0.001;0.007	B;B	0.11329	0.006;0.004	T	0.03121	-1.1070	10	0.35671	T	0.21	-8.5693	19.6503	0.95798	0.0:1.0:0.0:0.0	.	35;35	O00161-2;O00161	.;SNP23_HUMAN	E	35	ENSP00000249647:Q35E;ENSP00000207062:Q35E;ENSP00000380327:Q35E	ENSP00000249647:Q35E	Q	+	1	0	SNAP23	40592892	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.693000	0.54735	2.803000	0.96430	0.655000	0.94253	CAG	SNAP23	-	smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.368	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP23	HGNC	protein_coding	OTTHUMT00000253111.4	C	NM_003825		42805600	+1	no_errors	ENST00000249647	ensembl	human	known	70_37	missense	SNP	1.000	G
SNORD113-1	767561	genome.wustl.edu	37	14	101391163	101391163	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:101391163G>A	ENST00000365321.1	+	0	3				SNORD112_ENST00000516140.1_RNA|SNORD113-2_ENST00000391082.1_RNA	NR_003229.1				small nucleolar RNA, C/D box 113-1																		AGGAAAAAGTGAGTGATGAAT	0.313																																																	0													75.0	73.0	73.0					14																	101391163		876	1991	2867			767561					14q32.31	2013-09-05			ENSG00000202191	ENSG00000202191		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	32980	non-coding RNA	RNA, small nucleolar		613650				12045206	Standard	NR_003229		Approved	14q(I-1)	uc001yii.1				14.37:g.101391163G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000365321.1	37	NULL		14																																																																																			SNORD113-1	-	-		0.313	SNORD113-1-201	KNOWN	basic	snoRNA	SNORD113-1	HGNC	snoRNA		G	NR_003229.1		101391163	+1	no_errors	ENST00000365321	ensembl	human	known	70_37	rna	SNP	0.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25315632	25315632	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:25315632G>C	ENST00000549804.2	+	0	678				SNORD116-8_ENST00000384365.1_RNA|SNORD116-7_ENST00000384404.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNHG14_ENST00000551077.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TGAACAAAATGAGTGAGAACT	0.483																																																	0													189.0	168.0	174.0					15																	25315632		876	1991	2867			100033420					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25315632G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000549804.2	37	NULL		15																																																																																			SNORD116-8	-	-		0.483	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	SNORD116-8	HGNC	processed_transcript	OTTHUMT00000408278.2	G			25315632	+1	no_errors	ENST00000384365	ensembl	human	known	70_37	rna	SNP	1.000	C
NOP56	10528	genome.wustl.edu	37	20	2637610	2637610	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:2637610G>C	ENST00000329276.5	+	10	1797				SNORD56_ENST00000413522.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORD110_ENST00000408189.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD86_ENST00000391196.1_RNA|SNORA51_ENST00000606420.1_RNA|NOP56_ENST00000492135.1_Intron	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GTCTGAGCCTGACCTTGTAGA	0.478																																																	0													171.0	154.0	159.0					20																	2637610		876	1991	2867	SO:0001627	intron_variant	26792			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.1281+69G>C	20.37:g.2637610G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3T6|Q9NQ05	RNA	SNP	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			SNORD57	-	-		0.478	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD57	RFAM	protein_coding	OTTHUMT00000077631.2	G	NM_006392		2637610	+1	no_errors	ENST00000384532	ensembl	human	known	70_37	rna	SNP	1.000	C
SNTB2	6645	genome.wustl.edu	37	16	69318079	69318079	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:69318079C>A	ENST00000336278.4	+	5	1315	c.1277C>A	c.(1276-1278)tCa>tAa	p.S426*		NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	426	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|microtubule (GO:0005874)|protein complex (GO:0043234)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		CGGGATCTGTCATCCTGGACC	0.498																																					NSCLC(58;1458 1722 3262 39967)|Melanoma(111;1698 2173 25379 28738)												0													132.0	120.0	124.0					16																	69318079		2198	4300	6498	SO:0001587	stop_gained	6645			U40572	CCDS10873.1	16q22.1	2008-05-14	2002-08-29		ENSG00000168807	ENSG00000168807			11169	protein-coding gene	gene with protein product		600027	"""syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic component 2)"""	SNT2B2, SNTL, D16S2531E		8576247, 8183929	Standard	NM_006750		Approved	EST25263, SNT3	uc002ewu.3	Q13425	OTTHUMG00000137567	ENST00000336278.4:c.1277C>A	16.37:g.69318079C>A	ENSP00000338191:p.Ser426*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BY09	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.S426*	ENST00000336278.4	37	c.1277	CCDS10873.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.721178	0.96839	.	.	ENSG00000168807	ENST00000336278;ENST00000467311	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-5.5163	18.6271	0.91344	0.0:1.0:0.0:0.0	.	.	.	.	X	426;77	.	ENSP00000338191:S426X	S	+	2	0	SNTB2	67875580	1.000000	0.71417	0.918000	0.36340	0.866000	0.49608	7.675000	0.84002	2.485000	0.83878	0.655000	0.94253	TCA	SNTB2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	SNTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTB2	HGNC	protein_coding	OTTHUMT00000268945.1	C			69318079	+1	no_errors	ENST00000336278	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SNX1	6642	genome.wustl.edu	37	15	64388288	64388288	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:64388288G>C	ENST00000559844.1	+	1	90	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	SNX1_ENST00000560829.1_Intron|FAM96A_ENST00000380290.3_5'Flank|SNX1_ENST00000561026.1_Missense_Mutation_p.E26Q|SNX1_ENST00000353874.4_Missense_Mutation_p.E26Q|FAM96A_ENST00000557835.1_5'Flank|FAM96A_ENST00000559950.1_5'Flank|FAM96A_ENST00000300030.3_5'Flank|SNX1_ENST00000261889.5_Missense_Mutation_p.E26Q			Q13596	SNX1_HUMAN	sorting nexin 1	26					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCGGAGTCCGAGGGGGCGGC	0.706																																																	0													9.0	12.0	11.0					15																	64388288		2169	4245	6414	SO:0001583	missense	6642			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.76G>C	15.37:g.64388288G>C	ENSP00000453785:p.Glu26Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E26Q	ENST00000559844.1	37	c.76	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032563	0.54790	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T;T	0.23552	1.9;1.98	5.38	4.4	0.53042	.	0.469100	0.18104	N	0.151591	T	0.23492	0.0568	L	0.34521	1.04	0.27423	N	0.954249	P;B;B;P	0.47910	0.902;0.342;0.299;0.736	P;B;B;B	0.47528	0.549;0.102;0.082;0.426	T	0.03773	-1.1005	10	0.17832	T	0.49	1.9211	11.5479	0.50704	0.0:0.1804:0.8196:0.0	.	26;26;26;26	Q6ZRJ8;Q13596-2;A6NKH4;Q13596	.;.;.;SNX1_HUMAN	Q	26	ENSP00000326668:E26Q;ENSP00000261889:E26Q	ENSP00000261889:E26Q	E	+	1	0	SNX1	62175341	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.202000	0.51067	2.669000	0.90835	0.563000	0.77884	GAG	SNX1	-	pfam_Sorting_nexin_N		0.706	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	G	NM_003099		64388288	+1	no_errors	ENST00000559844	ensembl	human	known	70_37	missense	SNP	1.000	C
SNX13	23161	genome.wustl.edu	37	7	17836561	17836561	+	Splice_Site	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:17836561C>T	ENST00000409389.1	-	25	2720	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N	SNX13_ENST00000428135.3_Splice_Site_p.D839N|SNX13_ENST00000496855.1_5'UTR			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	850					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CAAAATGCATCTCTATTTGAG	0.299																																																	0													151.0	135.0	140.0					7																	17836561		1809	4074	5883	SO:0001630	splice_region_variant	23161			AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2547-1G>A	7.37:g.17836561C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal	p.D839N	ENST00000409389.1	37	c.2515		7	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430147	0.43122	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.31247	1.5;1.5	5.02	5.02	0.67125	.	0.044346	0.85682	D	0.000000	T	0.30727	0.0774	L	0.42008	1.315	0.80722	D	1	B;B;B	0.25169	0.008;0.119;0.019	B;B;B	0.25614	0.014;0.062;0.013	T	0.05649	-1.0872	10	0.39692	T	0.17	-15.4539	18.3665	0.90392	0.0:1.0:0.0:0.0	.	636;850;839	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	N	850;839;887	ENSP00000386705:D850N;ENSP00000398789:D839N	ENSP00000242044:D887N	D	-	1	0	SNX13	17803086	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.487000	0.81328	2.327000	0.79052	0.557000	0.71058	GAT	SNX13	-	pfam_Sorting_nexin_C		0.299	SNX13-002	NOVEL	basic|exp_conf	protein_coding	SNX13	HGNC	protein_coding	OTTHUMT00000327608.1	C	NM_015132	Missense_Mutation	17836561	-1	no_errors	ENST00000428135	ensembl	human	novel	70_37	missense	SNP	1.000	T
SNX25	83891	genome.wustl.edu	37	4	186284652	186284652	+	3'UTR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:186284652G>A	ENST00000504273.1	+	0	2850				SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25						negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAAAATGTCTGTGTAATAATA	0.363																																																	0													60.0	59.0	59.0					4																	186284652		2203	4300	6503	SO:0001624	3_prime_UTR_variant	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.*33G>A	4.37:g.186284652G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZT30|Q8N6K3	RNA	SNP	-	NULL	ENST00000504273.1	37	NULL	CCDS34116.1	4																																																																																			SNX25	-	-		0.363	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX25	HGNC	protein_coding	OTTHUMT00000360756.1	G	NM_031953		186284652	+1	no_errors	ENST00000512853	ensembl	human	known	70_37	rna	SNP	1.000	A
SOAT2	8435	genome.wustl.edu	37	12	53514592	53514592	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53514592C>G	ENST00000301466.3	+	11	1122	c.1062C>G	c.(1060-1062)atC>atG	p.I354M		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	354					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TGCTGCTCATCTTCTTTGCCT	0.587																																																	0													183.0	142.0	156.0					12																	53514592		2203	4300	6503	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1062C>G	12.37:g.53514592C>G	ENSP00000301466:p.Ile354Met	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	pfam_MBOAT_fam	p.I354M	ENST00000301466.3	37	c.1062	CCDS8847.1	12	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312621	0.40895	.	.	ENSG00000167780	ENST00000301466	T	0.73575	-0.76	5.53	0.166	0.14999	.	0.325126	0.34777	N	0.003691	T	0.47021	0.1423	N	0.10809	0.05	0.33057	D	0.533618	B	0.26002	0.139	B	0.31290	0.127	T	0.29027	-1.0025	10	0.21540	T	0.41	-28.9448	1.6353	0.02740	0.121:0.3589:0.2709:0.2492	.	354	O75908	SOAT2_HUMAN	M	354	ENSP00000301466:I354M	ENSP00000301466:I354M	I	+	3	3	SOAT2	51800859	0.095000	0.21747	1.000000	0.80357	0.997000	0.91878	-0.465000	0.06680	0.360000	0.24265	0.561000	0.74099	ATC	SOAT2	-	pfam_MBOAT_fam		0.587	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	C			53514592	+1	no_errors	ENST00000301466	ensembl	human	known	70_37	missense	SNP	0.992	G
SOCS3	9021	genome.wustl.edu	37	17	76354826	76354826	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:76354826G>A	ENST00000330871.2	-	2	766	c.351C>T	c.(349-351)ttC>ttT	p.F117F	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	117	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GCACGCAGTCGAAGCGGGGCA	0.667																																																	0													27.0	28.0	28.0					17																	76354826		2201	4300	6501	SO:0001819	synonymous_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.351C>T	17.37:g.76354826G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14509	Silent	SNP	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.F117	ENST00000330871.2	37	c.351	CCDS11756.1	17																																																																																			SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.667	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	G			76354826	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	silent	SNP	0.988	A
SORBS1	10580	genome.wustl.edu	37	10	97131130	97131130	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:97131130C>G	ENST00000361941.3	-	19	1884	c.1858G>C	c.(1858-1860)Gaa>Caa	p.E620Q	SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.E642Q|SORBS1_ENST00000393949.1_Missense_Mutation_p.E590Q|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371247.2_Missense_Mutation_p.E620Q|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.E590Q|SORBS1_ENST00000607232.1_Missense_Mutation_p.E387Q|SORBS1_ENST00000371227.4_Missense_Mutation_p.E574Q|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.E642Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.E397Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		TCCATTTTTTCTAAATCTGCC	0.408																																																	0													144.0	141.0	142.0					10																	97131130		2203	4300	6503	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1858G>C	10.37:g.97131130C>G	ENSP00000355136:p.Glu620Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.E620Q	ENST00000361941.3	37	c.1858	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984811	0.74474	.	.	ENSG00000095637	ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.87	5.87	0.94306	.	0.000000	0.41938	D	0.000787	T	0.54886	0.1886	L	0.40543	1.245	0.80722	D	1	B;B;D;P	0.56746	0.101;0.048;0.977;0.634	B;B;P;B	0.52793	0.075;0.015;0.709;0.165	T	0.50608	-0.8808	10	0.46703	T	0.11	-3.1581	20.2141	0.98291	0.0:1.0:0.0:0.0	.	574;620;642;590	Q9BX66-11;Q9BX66;Q9BX66-2;Q9BX66-5	.;SRBS1_HUMAN;.;.	Q	620;574;642;590;620;642;590;397	ENSP00000360293:E620Q;ENSP00000360271:E574Q;ENSP00000360292:E642Q;ENSP00000377521:E590Q;ENSP00000355136:E620Q;ENSP00000277982:E642Q;ENSP00000277984:E590Q;ENSP00000360283:E397Q	ENSP00000277982:E642Q	E	-	1	0	SORBS1	97121120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.819000	0.55686	2.787000	0.95880	0.557000	0.71058	GAA	SORBS1	-	NULL		0.408	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97131130	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	missense	SNP	1.000	G
SORCS2	57537	genome.wustl.edu	37	4	7705979	7705979	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:7705979G>C	ENST00000507866.2	+	14	1945	c.1836G>C	c.(1834-1836)ctG>ctC	p.L612L	SORCS2_ENST00000329016.9_Silent_p.L440L	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	612					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGGGCTGCTGAGTGAGCCAG	0.647																																																	0													49.0	56.0	54.0					4																	7705979		2138	4240	6378	SO:0001819	synonymous_variant	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1836G>C	4.37:g.7705979G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2L7	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.L612	ENST00000507866.2	37	c.1836	CCDS47008.1	4																																																																																			SORCS2	-	smart_VPS10		0.647	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	G	NM_020777		7705979	+1	no_errors	ENST00000507866	ensembl	human	known	70_37	silent	SNP	0.997	C
SOS2	6655	genome.wustl.edu	37	14	50605450	50605450	+	Missense_Mutation	SNP	T	T	A	rs532833599		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:50605450T>A	ENST00000216373.5	-	18	3112	c.2838A>T	c.(2836-2838)ttA>ttT	p.L946F	SOS2_ENST00000543680.1_Missense_Mutation_p.L913F	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	946	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L946F(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTTTCTTTTTTAAAAAATCAT	0.264													T|||	1	0.000199681	0.0	0.0	5008	,	,		13030	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	large_intestine(2)											42.0	41.0	41.0					14																	50605450		2199	4296	6495	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2838A>T	14.37:g.50605450T>A	ENSP00000216373:p.Leu946Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L946F	ENST00000216373.5	37	c.2838	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618782	0.66787	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.35605	1.3;1.3	5.6	3.14	0.36123	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.51787	0.1695	M	0.84846	2.72	0.58432	D	0.999994	P;P	0.50272	0.933;0.86	P;P	0.57548	0.823;0.583	T	0.53809	-0.8386	10	0.87932	D	0	.	3.6215	0.08097	0.2755:0.1915:0.0:0.533	.	913;946	B7ZKT6;Q07890	.;SOS2_HUMAN	F	946;913	ENSP00000216373:L946F;ENSP00000445328:L913F	ENSP00000216373:L946F	L	-	3	2	SOS2	49675200	0.981000	0.34729	1.000000	0.80357	0.997000	0.91878	0.134000	0.15932	0.969000	0.38237	0.533000	0.62120	TTA	SOS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.264	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	T			50605450	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	0.999	A
SOS2	6655	genome.wustl.edu	37	14	50666501	50666501	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:50666501C>G	ENST00000216373.5	-	4	692	c.418G>C	c.(418-420)Gat>Cat	p.D140H	SOS2_ENST00000543680.1_Missense_Mutation_p.D140H	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	140					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTAAAATATCAGCTGAGATA	0.333																																																	0													76.0	81.0	79.0					14																	50666501		2203	4294	6497	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.418G>C	14.37:g.50666501C>G	ENSP00000216373:p.Asp140His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.D140H	ENST00000216373.5	37	c.418	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740192	0.89573	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	D;D	0.85702	-2.02;-2.02	4.98	4.98	0.66077	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.92532	0.7628	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93402	0.6761	10	0.87932	D	0	.	18.616	0.91303	0.0:1.0:0.0:0.0	.	140;140	B7ZKT6;Q07890	.;SOS2_HUMAN	H	140	ENSP00000216373:D140H;ENSP00000445328:D140H	ENSP00000216373:D140H	D	-	1	0	SOS2	49736251	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.482000	0.83794	0.563000	0.77884	GAT	SOS2	-	pfam_Histone_core_D,superfamily_Histone-fold		0.333	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	C			50666501	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	missense	SNP	1.000	G
SOX2	6657	genome.wustl.edu	37	3	181430398	181430398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:181430398G>T	ENST00000325404.1	+	1	677	c.250G>T	c.(250-252)Gag>Tag	p.E84*	SOX2_ENST00000431565.2_Nonsense_Mutation_p.E84*	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	84					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACTTTTGTCGGAGACGGAGAA	0.622			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													39.0	43.0	42.0					3																	181430398		2203	4300	6503	SO:0001587	stop_gained	6657			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.250G>T	3.37:g.181430398G>T	ENSP00000323588:p.Glu84*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14537	Nonsense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E84*	ENST00000325404.1	37	c.250	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	G	31	5.085137	0.94100	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	.	.	.	5.0	5.0	0.66597	.	0.055499	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.6633	0.88198	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000323588:E84X	E	+	1	0	SOX2	182913092	1.000000	0.71417	0.999000	0.59377	0.159000	0.22180	9.754000	0.98908	2.473000	0.83533	0.561000	0.74099	GAG	SOX2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.622	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	G	NM_003106		181430398	+1	no_errors	ENST00000325404	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SP1	6667	genome.wustl.edu	37	12	53803156	53803156	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53803156G>C	ENST00000327443.4	+	5	1953	c.1855G>C	c.(1855-1857)Gat>Cat	p.D619H	SP1_ENST00000426431.2_Missense_Mutation_p.D612H	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	619	VZV IE62-binding.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGGCTCGGGGGATCCTGGCAA	0.478																																																	0													54.0	45.0	48.0					12																	53803156		2203	4300	6503	SO:0001583	missense	6667			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1855G>C	12.37:g.53803156G>C	ENSP00000329357:p.Asp619His	Somatic		WXS	Illumina HiSeq	Phase_IV	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D619H	ENST00000327443.4	37	c.1855	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866363	0.91511	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.09817	2.98;2.94	5.32	5.32	0.75619	.	0.097855	0.40908	D	0.000986	T	0.18718	0.0449	L	0.55481	1.735	0.80722	D	1	D	0.56521	0.976	P	0.48488	0.579	T	0.00233	-1.1894	10	0.35671	T	0.21	.	18.3142	0.90213	0.0:0.0:1.0:0.0	.	619	P08047	SP1_HUMAN	H	619;612	ENSP00000329357:D619H;ENSP00000404263:D612H	ENSP00000329357:D619H	D	+	1	0	SP1	52089423	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.256000	0.72473	2.941000	0.99782	0.655000	0.94253	GAT	SP1	-	NULL		0.478	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	HGNC	protein_coding	OTTHUMT00000407044.1	G			53803156	+1	no_errors	ENST00000327443	ensembl	human	known	70_37	missense	SNP	1.000	C
SP4	6671	genome.wustl.edu	37	7	21469217	21469217	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:21469217C>G	ENST00000222584.3	+	3	652	c.434C>G	c.(433-435)tCt>tGt	p.S145C		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	145					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCAGGTAATTCTTCCACCCCT	0.403																																																	0													72.0	70.0	71.0					7																	21469217		2203	4300	6503	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.434C>G	7.37:g.21469217C>G	ENSP00000222584:p.Ser145Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S145C	ENST00000222584.3	37	c.434	CCDS5373.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.29|10.29	1.310661|1.310661	0.23821|0.23821	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000446800|ENST00000222584	.|T	.|0.10288	.|2.89	4.46|4.46	2.6|2.6	0.31112|0.31112	.|.	.|0.488510	.|0.23861	.|N	.|0.043859	T|T	0.06325|0.06325	0.0163|0.0163	N|N	0.08118|0.08118	0|0	0.29642|0.29642	N|N	0.844635|0.844635	.|B	.|0.22480	.|0.07	.|B	.|0.27170	.|0.077	T|T	0.15263|0.15263	-1.0443|-1.0443	6|10	0.87932|0.59425	D|D	0|0.04	.|.	10.6403|10.6403	0.45590|0.45590	0.0:0.8407:0.0:0.1593|0.0:0.8407:0.0:0.1593	.|.	.|145	.|Q02446	.|SP4_HUMAN	V|C	122|145	.|ENSP00000222584:S145C	ENSP00000402421:L122V|ENSP00000222584:S145C	L|S	+|+	1|2	0|0	SP4|SP4	21435742|21435742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.907000|1.907000	0.39897|0.39897	1.094000|1.094000	0.41399|0.41399	0.655000|0.655000	0.94253|0.94253	CTT|TCT	SP4	-	NULL		0.403	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	C	NM_003112		21469217	+1	no_errors	ENST00000222584	ensembl	human	known	70_37	missense	SNP	0.998	G
SPAG17	200162	genome.wustl.edu	37	1	118514412	118514412	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:118514412G>A	ENST00000336338.5	-	45	6392				SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17							cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AACATTTATTGATGGAGGTGA	0.403																																																	0																																										SO:0001627	intron_variant	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6326+73C>T	1.37:g.118514412G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NAZ1|Q9NT21	RNA	SNP	-	NULL	ENST00000336338.5	37	NULL	CCDS899.1	1																																																																																			SPAG17	-	-		0.403	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	G	NM_206996		118514412	-1	no_errors	ENST00000492438	ensembl	human	known	70_37	rna	SNP	0.004	A
SPATA13	221178	genome.wustl.edu	37	13	24797596	24797596	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:24797596G>C	ENST00000382095.4	+	2	185				SPATA13_ENST00000382108.3_Missense_Mutation_p.E177Q|SPATA13_ENST00000424834.2_Missense_Mutation_p.E177Q|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.E177Q	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CAGGCCAGCAGAGTGGGGCAC	0.672																																																	0													26.0	32.0	30.0					13																	24797596		692	1591	2283	SO:0001627	intron_variant	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-26019G>C	13.37:g.24797596G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E177Q	ENST00000382095.4	37	c.529	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.941938|1.941938	0.34283|0.34283	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	T|.	0.73789|.	-0.78|.	4.95|4.95	4.11|4.11	0.48088|0.48088	.|.	0.241765|.	0.20078|.	U|.	0.099713|.	T|T	0.22360|0.22360	0.0539|0.0539	N|N	0.08118|0.08118	0|0	0.21064|0.21064	N|N	0.999798|0.999798	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.19224|0.19224	-1.0312|-1.0312	8|5	0.45353|.	T|.	0.12|.	.|.	13.2748|13.2748	0.60182|0.60182	0.0:0.2071:0.7929:0.0|0.0:0.2071:0.7929:0.0	.|.	.|.	.|.	.|.	Q|T	177|214	ENSP00000371542:E177Q|.	ENSP00000371542:E177Q|.	E|R	+|+	1|2	0|0	SPATA13|SPATA13	23695596|23695596	0.660000|0.660000	0.27420|0.27420	0.002000|0.002000	0.10522|0.10522	0.011000|0.011000	0.07611|0.07611	3.583000|3.583000	0.53928|0.53928	1.091000|1.091000	0.41335|0.41335	0.478000|0.478000	0.44815|0.44815	GAG|AGA	SPATA13	-	NULL		0.672	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	G	NM_153023		24797596	+1	no_errors	ENST00000382108	ensembl	human	known	70_37	missense	SNP	0.012	C
SPATA5	166378	genome.wustl.edu	37	4	123868526	123868526	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:123868526C>T	ENST00000274008.4	+	9	1666	c.1597C>T	c.(1597-1599)Ctc>Ttc	p.L533F	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	533					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GCTAGATATTCTCCAGAAACT	0.502																																																	0													94.0	93.0	93.0					4																	123868526		2203	4300	6503	SO:0001583	missense	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1597C>T	4.37:g.123868526C>T	ENSP00000274008:p.Leu533Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.L533F	ENST00000274008.4	37	c.1597	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822324	0.50739	.	.	ENSG00000145375	ENST00000274008	D	0.96200	-3.94	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	D	0.96125	0.8737	M	0.76002	2.32	0.42889	D	0.994195	D;P	0.53312	0.959;0.933	P;P	0.52189	0.466;0.692	D	0.96167	0.9120	10	0.59425	D	0.04	-41.5449	13.4697	0.61276	0.0:0.9247:0.0:0.0753	.	533;533	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	F	533	ENSP00000274008:L533F	ENSP00000274008:L533F	L	+	1	0	SPATA5	124087976	0.961000	0.32948	0.998000	0.56505	0.993000	0.82548	1.973000	0.40550	2.534000	0.85438	0.585000	0.79938	CTC	SPATA5	-	NULL		0.502	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	C	NM_145207		123868526	+1	no_errors	ENST00000274008	ensembl	human	known	70_37	missense	SNP	0.999	T
SPDL1	54908	genome.wustl.edu	37	5	169028292	169028292	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:169028292G>A	ENST00000265295.4	+	11	1612	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K		NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		AGAGACAGTTGAAGTGCCTGT	0.413																																																	0													61.0	64.0	63.0					5																	169028292		2203	4300	6503	SO:0001583	missense	54908			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.1333G>A	5.37:g.169028292G>A	ENSP00000265295:p.Glu445Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E445K	ENST00000265295.4	37	c.1333	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	2.041	-0.420025	0.04734	.	.	ENSG00000040275	ENST00000265295;ENST00000274631	T	0.28255	1.62	5.77	1.91	0.25777	.	0.485116	0.23142	N	0.051442	T	0.13927	0.0337	N	0.21142	0.635	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.002	B;B;B	0.14578	0.011;0.004;0.004	T	0.26643	-1.0097	10	0.07325	T	0.83	-0.5429	3.9949	0.09553	0.3651:0.1791:0.4558:0.0	.	367;346;445	B4E393;Q96EA4-2;Q96EA4	.;.;SPDLY_HUMAN	K	445;346	ENSP00000265295:E445K	ENSP00000265295:E445K	E	+	1	0	CCDC99	168960870	0.977000	0.34250	0.701000	0.30321	0.556000	0.35491	2.027000	0.41078	0.757000	0.33036	-0.156000	0.13503	GAA	SPDL1	-	NULL		0.413	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2	G	NM_017785		169028292	+1	no_errors	ENST00000265295	ensembl	human	known	70_37	missense	SNP	0.137	A
SPECC1L	23384	genome.wustl.edu	37	22	24765209	24765209	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:24765209C>G	ENST00000314328.9	+	14	3293	c.3008C>G	c.(3007-3009)tCa>tGa	p.S1003*	SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S1003*|SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S1003*	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1003					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.S1003L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GACCCTCTCTCAGCATTGGCC	0.378																																																	1	Substitution - Missense(1)	lung(1)											110.0	102.0	105.0					22																	24765209		2203	4300	6503	SO:0001587	stop_gained	23384			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3008C>G	22.37:g.24765209C>G	ENSP00000325785:p.Ser1003*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z758|F5H1H6|O15081	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_dom,smart_CH-domain,pfscan_CH-domain	p.S1003*	ENST00000314328.9	37	c.3008	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	C	43	9.923947	0.99297	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	.	.	.	5.56	5.56	0.83823	.	0.073744	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.3951	18.5081	0.90905	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	ENSP00000325785:S1003X	S	+	2	0	SPECC1L	23095209	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.177000	0.77650	2.607000	0.88179	0.563000	0.77884	TCA	SPECC1L	-	NULL		0.378	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	C	NM_015330		24765209	+1	no_errors	ENST00000314328	ensembl	human	known	70_37	nonsense	SNP	0.999	G
SPEN	23013	genome.wustl.edu	37	1	16237768	16237768	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:16237768G>C	ENST00000375759.3	+	5	1419	c.1215G>C	c.(1213-1215)caG>caC	p.Q405H	snoU13_ENST00000459258.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	405	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTGGCATGCAGATTGAAGTAA	0.438																																																	0													69.0	64.0	66.0					1																	16237768		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1215G>C	1.37:g.16237768G>C	ENSP00000364912:p.Gln405His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.Q405H	ENST00000375759.3	37	c.1215	CCDS164.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367348|3.367348	0.61513|0.61513	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000375759;ENST00000438066;ENST00000375753|ENST00000442985	T;T|.	0.16597|.	2.33;2.33|.	5.59|5.59	4.69|4.69	0.59074|0.59074	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.69178|0.69178	0.3082|0.3082	L|L	0.61036|0.61036	1.89|1.89	0.58432|0.58432	D|D	0.999994|0.999994	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.68179|0.68179	-0.5477|-0.5477	9|5	0.62326|.	D|.	0.03|.	-8.1111|-8.1111	13.0907|13.0907	0.59166|0.59166	0.074:0.0:0.926:0.0|0.074:0.0:0.926:0.0	.|.	405|.	Q96T58|.	MINT_HUMAN|.	H|T	405;364;364|145	ENSP00000364912:Q405H;ENSP00000388021:Q364H|.	ENSP00000364906:Q364H|.	Q|R	+|+	3|2	2|0	SPEN|SPEN	16110355|16110355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.370000|1.370000	0.34238|0.34238	1.393000|1.393000	0.46605|0.46605	-0.217000|-0.217000	0.12591|0.12591	CAG|AGA	SPEN	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.438	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16237768	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C
SPEN	23013	genome.wustl.edu	37	1	16260296	16260296	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:16260296G>C	ENST00000375759.3	+	11	7765	c.7561G>C	c.(7561-7563)Gac>Cac	p.D2521H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2521	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTTCCCCCAGACACAAAGGC	0.562																																																	0													159.0	164.0	162.0					1																	16260296		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7561G>C	1.37:g.16260296G>C	ENSP00000364912:p.Asp2521His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D2521H	ENST00000375759.3	37	c.7561	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431559	0.43122	.	.	ENSG00000065526	ENST00000375759	T	0.17854	2.25	5.16	5.16	0.70880	.	.	.	.	.	T	0.34774	0.0909	L	0.55481	1.735	0.53688	D	0.99997	D	0.89917	1.0	D	0.70716	0.97	T	0.03555	-1.1025	9	0.72032	D	0.01	-22.4307	12.0612	0.53564	0.0793:0.0:0.9207:0.0	.	2521	Q96T58	MINT_HUMAN	H	2521	ENSP00000364912:D2521H	ENSP00000364912:D2521H	D	+	1	0	SPEN	16132883	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.590000	0.82653	2.418000	0.82041	0.561000	0.74099	GAC	SPEN	-	NULL		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16260296	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	1.000	C
SPG20	23111	genome.wustl.edu	37	13	36878517	36878517	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:36878517C>T	ENST00000451493.1	-	9	2203	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	SPG20_ENST00000355182.4_Silent_p.K662K|SPG20_ENST00000494062.2_Silent_p.K662K|SPG20_ENST00000438666.2_Silent_p.K662K	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	662					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TATCTTTCTTCTTTGCCTCCT	0.388																																																	0													267.0	259.0	262.0					13																	36878517		2203	4300	6503	SO:0001819	synonymous_variant	23111			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1986G>A	13.37:g.36878517C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.K662	ENST00000451493.1	37	c.1986	CCDS9356.1	13																																																																																			SPG20	-	NULL		0.388	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	C			36878517	-1	no_errors	ENST00000355182	ensembl	human	known	70_37	silent	SNP	0.304	T
SPIRE2	84501	genome.wustl.edu	37	16	89922592	89922592	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89922592C>G	ENST00000378247.3	+	7	1093	c.1050C>G	c.(1048-1050)atC>atG	p.I350M	SPIRE2_ENST00000393062.2_Missense_Mutation_p.I350M	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	350	WH2 3. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGAGGAGATCAAGCAGGAGC	0.692																																																	0													22.0	23.0	23.0					16																	89922592		2190	4292	6482	SO:0001583	missense	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1050C>G	16.37:g.89922592C>G	ENSP00000367494:p.Ile350Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.I350M	ENST00000378247.3	37	c.1050	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448956	0.63178	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.65178	-0.12;-0.14	4.95	0.531	0.17108	Actin-binding WH2 (1);	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.89414	3.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.996;0.997;0.999	T	0.72795	-0.4185	10	0.87932	D	0	-41.0993	3.0737	0.06239	0.1878:0.4291:0.0:0.3831	.	217;350;302;350	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	M	350	ENSP00000367494:I350M;ENSP00000376782:I350M	ENSP00000367494:I350M	I	+	3	3	SPIRE2	88450093	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	0.794000	0.26958	0.627000	0.30340	0.485000	0.47835	ATC	SPIRE2	-	NULL		0.692	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462		89922592	+1	no_errors	ENST00000378247	ensembl	human	known	70_37	missense	SNP	1.000	G
SPNS1	83985	genome.wustl.edu	37	16	28993737	28993737	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:28993737G>C	ENST00000311008.11	+	8	1403	c.1026G>C	c.(1024-1026)gaG>gaC	p.E342D	SPNS1_ENST00000352260.7_Missense_Mutation_p.E268D|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000334536.8_Missense_Mutation_p.E290D|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.E269D|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000565975.1_Missense_Mutation_p.E387D	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	342					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGGTGTGGAGATCAGCCGCC	0.647																																																	0													72.0	72.0	72.0					16																	28993737		2197	4300	6497	SO:0001583	missense	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1026G>C	16.37:g.28993737G>C	ENSP00000309945:p.Glu342Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E342D	ENST00000311008.11	37	c.1026	CCDS10646.1	16	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493473	0.64186	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.32	3.35	0.38373	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061259	0.64402	D	0.000004	T	0.66839	0.2830	M	0.72118	2.19	0.44345	D	0.997236	B;B;P;P	0.42993	0.185;0.393;0.797;0.591	B;B;P;P	0.54889	0.138;0.312;0.763;0.467	T	0.64774	-0.6328	10	0.36615	T	0.2	.	10.3209	0.43764	0.0987:0.0:0.9013:0.0	.	269;268;342;290	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	D	342;290;268;269	ENSP00000309945:E342D;ENSP00000335494:E290D;ENSP00000306050:E268D;ENSP00000318228:E269D	ENSP00000309945:E342D	E	+	3	2	SPNS1	28901238	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	1.822000	0.39052	1.012000	0.39366	0.462000	0.41574	GAG	SPNS1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.647	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	G	NM_032038		28993737	+1	no_errors	ENST00000311008	ensembl	human	known	70_37	missense	SNP	1.000	C
SPIRE2	84501	genome.wustl.edu	37	16	89925647	89925647	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89925647C>G	ENST00000378247.3	+	9	1390	c.1347C>G	c.(1345-1347)ctC>ctG	p.L449L	SPIRE2_ENST00000393062.2_Silent_p.L449L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	449					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TGGCCCAGCTCCGAAGTGAGG	0.682																																																	0													56.0	52.0	53.0					16																	89925647		2198	4298	6496	SO:0001819	synonymous_variant	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1347C>G	16.37:g.89925647C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Silent	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.L449	ENST00000378247.3	37	c.1347	CCDS32516.1	16																																																																																			SPIRE2	-	NULL		0.682	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	C	XM_047462		89925647	+1	no_errors	ENST00000378247	ensembl	human	known	70_37	silent	SNP	0.743	G
SREK1	140890	genome.wustl.edu	37	5	65458257	65458257	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:65458257C>A	ENST00000380918.3	+	6	904	c.244C>A	c.(244-246)Caa>Aaa	p.Q82K	SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.Q198K	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	82	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GACAGCTGATCAACTACTTGA	0.348																																					GBM(10;31 347 27684 38976 41583)												0													69.0	73.0	72.0					5																	65458257		2203	4300	6503	SO:0001583	missense	140890			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.244C>A	5.37:g.65458257C>A	ENSP00000370305:p.Gln82Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q198K	ENST00000380918.3	37	c.592	CCDS3991.1	5	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755955	0.69648	.	.	ENSG00000153914	ENST00000334121;ENST00000537482;ENST00000380918	T;T	0.08102	3.13;3.13	5.48	5.48	0.80851	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050039	0.85682	D	0.000000	T	0.19327	0.0464	N	0.25201	0.72	0.54753	D	0.999985	D;D;P	0.71674	0.998;0.963;0.954	D;D;D	0.80764	0.994;0.973;0.954	T	0.01920	-1.1247	10	0.59425	D	0.04	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	82;82;198	Q69YM5;Q8WXA9;Q8WXA9-2	.;SREK1_HUMAN;.	K	198;198;82	ENSP00000334538:Q198K;ENSP00000370305:Q82K	ENSP00000334538:Q198K	Q	+	1	0	SREK1	65494013	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.336000	0.79245	2.724000	0.93272	0.655000	0.94253	CAA	SREK1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.348	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	C	NM_001077199		65458257	+1	no_errors	ENST00000334121	ensembl	human	known	70_37	missense	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64505618	64505618	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:64505618G>A	ENST00000355086.3	+	17	2520	c.1996G>A	c.(1996-1998)Gtc>Atc	p.V666I	SRGAP1_ENST00000357825.3_Missense_Mutation_p.V643I|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.V603I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	666	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTGATGCCTGTCCCAGAAAT	0.418																																																	0													133.0	118.0	123.0					12																	64505618		2203	4300	6503	SO:0001583	missense	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1996G>A	12.37:g.64505618G>A	ENSP00000347198:p.Val666Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H8A3|Q9P2P2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.V666I	ENST00000355086.3	37	c.1996	CCDS8967.1	12	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057955	0.36277	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.17854	2.25;2.25;2.25	5.05	4.16	0.48862	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.31784	U	0.007067	T	0.10078	0.0247	N	0.10874	0.06	0.42195	D	0.991749	B;B	0.19073	0.033;0.002	B;B	0.26416	0.069;0.006	T	0.16512	-1.0400	9	.	.	.	.	13.4289	0.61042	0.0755:0.0:0.9245:0.0	.	666;603	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	I	666;643;603	ENSP00000347198:V666I;ENSP00000350480:V643I;ENSP00000437948:V603I	.	V	+	1	0	SRGAP1	62791885	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	3.781000	0.55394	1.274000	0.44362	0.555000	0.69702	GTC	SRGAP1	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.418	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	G			64505618	+1	no_errors	ENST00000355086	ensembl	human	known	70_37	missense	SNP	0.997	A
SRP68	6730	genome.wustl.edu	37	17	74053615	74053615	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:74053615T>C	ENST00000307877.2	-	8	1008	c.847A>G	c.(847-849)Act>Gct	p.T283A	SRP68_ENST00000355113.5_Missense_Mutation_p.T182A|SRP68_ENST00000539137.1_Missense_Mutation_p.T245A	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	283					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CGAGTCTGAGTGATCAAAGCC	0.403																																																	0													122.0	100.0	107.0					17																	74053615		2203	4300	6503	SO:0001583	missense	6730			AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.847A>G	17.37:g.74053615T>C	ENSP00000312066:p.Thr283Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	NULL	p.T283A	ENST00000307877.2	37	c.847	CCDS11738.1	17	.	.	.	.	.	.	.	.	.	.	T	4.785	0.146030	0.09134	.	.	ENSG00000167881	ENST00000411758;ENST00000539137;ENST00000540937;ENST00000307877;ENST00000355113	.	.	.	5.47	3.0	0.34707	.	0.089742	0.85682	D	0.000000	T	0.22437	0.0541	N	0.02775	-0.495	0.54753	D	0.999986	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.002	T	0.21042	-1.0257	9	0.02654	T	1	-14.7055	10.6992	0.45918	0.2697:0.0:0.0:0.7303	.	245;283	G3V1U4;Q9UHB9	.;SRP68_HUMAN	A	23;245;283;283;182	.	ENSP00000312066:T283A	T	-	1	0	SRP68	71565210	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.536000	0.45693	0.939000	0.37446	0.533000	0.62120	ACT	SRP68	-	NULL		0.403	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP68	HGNC	protein_coding	OTTHUMT00000449487.1	T	NM_014230		74053615	-1	no_errors	ENST00000307877	ensembl	human	known	70_37	missense	SNP	1.000	C
SRPK1	6732	genome.wustl.edu	37	6	35806520	35806520	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:35806520G>A	ENST00000373822.1	-	15	1865	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	SRPK1_ENST00000423325.2_Intron|SRPK1_ENST00000373825.2_Intron					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ATTTCCCACTGAGGGAAAAGC	0.413																																					NSCLC(31;67 978 16289 24856 26454)												0													237.0	221.0	226.0					6																	35806520		876	1991	2867	SO:0001819	synonymous_variant	6732			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373822.1:c.1422C>T	6.37:g.35806520G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		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,pfscan_Prot_kinase_cat_dom	p.L474	ENST00000373822.1	37	c.1422		6																																																																																			SRPK1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.413	SRPK1-201	KNOWN	basic	protein_coding	SRPK1	HGNC	protein_coding		G	NM_003137		35806520	-1	no_errors	ENST00000373822	ensembl	human	known	70_37	silent	SNP	1.000	A
SRPK2	6733	genome.wustl.edu	37	7	104783727	104783727	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:104783727C>T	ENST00000393651.3	-	10	951	c.864G>A	c.(862-864)aaG>aaA	p.K288K	SRPK2_ENST00000489828.1_Silent_p.K277K|SRPK2_ENST00000357311.3_Silent_p.K277K	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGCCTGCCTCTTCTGTTTCT	0.378																																																	0													63.0	64.0	63.0					7																	104783727		2203	4300	6503	SO:0001819	synonymous_variant	6733			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.864G>A	7.37:g.104783727C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		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.K288	ENST00000393651.3	37	c.864	CCDS34724.1	7																																																																																			SRPK2	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRPK2	HGNC	protein_coding	OTTHUMT00000348723.1	C	NM_182691		104783727	-1	no_errors	ENST00000393651	ensembl	human	known	70_37	silent	SNP	1.000	T
SRRM2	23524	genome.wustl.edu	37	16	2812362	2812362	+	Silent	SNP	G	G	T	rs372017967		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2812362G>T	ENST00000301740.8	+	11	2382	c.1833G>T	c.(1831-1833)cgG>cgT	p.R611R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	611	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCAGCCCGGAGGGGCAGGT	0.622																																																	0								G		1,4395	2.1+/-5.4	0,1,2197	58.0	60.0	59.0		1833	-7.2	0.6	16		59	0,8600		0,0,4300	no	coding-synonymous	SRRM2	NM_016333.3		0,1,6497	TT,TG,GG		0.0,0.0227,0.0077		611/2753	2812362	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1833G>T	16.37:g.2812362G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	pfam_mRNA_splic_Cwf21	p.R611	ENST00000301740.8	37	c.1833	CCDS32373.1	16																																																																																			SRRM2	-	NULL		0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	G			2812362	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	silent	SNP	0.013	T
SRSF11	9295	genome.wustl.edu	37	1	70694277	70694277	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:70694277G>A	ENST00000370950.3	+	3	419				SRSF11_ENST00000436161.2_Intron|SRSF11_ENST00000370951.1_Intron|SRSF11_ENST00000405432.1_Intron|SRSF11_ENST00000370949.1_5'Flank|SRSF11_ENST00000454435.2_Intron			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GGCATCCTAAGATGACCATCT	0.378																																																	0													176.0	155.0	162.0					1																	70694277		2203	4300	6503	SO:0001627	intron_variant	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.337+39G>A	1.37:g.70694277G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T758|Q8IWE6	RNA	SNP	-	NULL	ENST00000370950.3	37	NULL	CCDS647.1	1																																																																																			SRSF11	-	-		0.378	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	G	NM_004768		70694277	+1	no_errors	ENST00000463877	ensembl	human	known	70_37	rna	SNP	0.962	A
SRSF12	135295	genome.wustl.edu	37	6	89808380	89808380	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:89808380C>T	ENST00000452027.2	-	5	896	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K		NM_080743.4	NP_542781.3	Q8WXF0	SRS12_HUMAN	serine/arginine-rich splicing factor 12	235	Arg/Ser-rich (RS domain).				cytoplasmic transport (GO:0016482)|mRNA 5'-splice site recognition (GO:0000395)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|spliceosomal tri-snRNP complex assembly (GO:0000244)	nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RS domain binding (GO:0050733)|unfolded protein binding (GO:0051082)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)	8						ACTTTAGTTTCAGAATTGGTA	0.398																																																	0													195.0	183.0	187.0					6																	89808380		1880	4107	5987	SO:0001583	missense	135295			AF449428	CCDS47459.1	6q16.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000154548	ENSG00000154548		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	21220	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 19"", ""SR splicing factor 12"""		"""splicing factor, arginine/serine-rich 13B"""	SFRS13B		11684676, 20516191	Standard	NM_080743		Approved	SRrp35, SFRS19	uc021zcq.1	Q8WXF0	OTTHUMG00000015192	ENST00000452027.2:c.703G>A	6.37:g.89808380C>T	ENSP00000414302:p.Glu235Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA22|Q5T7K0|Q8WW25	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E235K	ENST00000452027.2	37	c.703	CCDS47459.1	6	.	.	.	.	.	.	.	.	.	.	C	7.615	0.675658	0.14841	.	.	ENSG00000154548	ENST00000452027	T	0.06528	3.29	5.43	5.43	0.79202	.	0.651684	0.13539	N	0.380376	T	0.01765	0.0056	L	0.38175	1.15	0.21675	N	0.999599	B	0.19583	0.037	B	0.16722	0.016	T	0.46762	-0.9168	10	0.15499	T	0.54	.	7.0412	0.25021	0.1729:0.7429:0.0:0.0842	.	235	Q8WXF0	SRS12_HUMAN	K	235	ENSP00000414302:E235K	ENSP00000414302:E235K	E	-	1	0	SRSF12	89865099	0.653000	0.27358	0.942000	0.38095	0.149000	0.21700	1.401000	0.34589	2.833000	0.97629	0.591000	0.81541	GAA	SRSF12	-	NULL		0.398	SRSF12-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SRSF12	HGNC	protein_coding	OTTHUMT00000041474.2	C	NM_080743		89808380	-1	no_errors	ENST00000452027	ensembl	human	known	70_37	missense	SNP	0.859	T
SSPO	23145	genome.wustl.edu	37	7	149519678	149519678	+	RNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:149519678C>T	ENST00000378016.2	+	0	13168							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTACCGACACCAGGGCCCGGC	0.692																																																	0													14.0	17.0	16.0					7																	149519678		1961	4129	6090			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149519678C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.692	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149519678	+1	no_errors	ENST00000378016	ensembl	human	known	70_37	rna	SNP	1.000	T
SSR2	6746	genome.wustl.edu	37	1	155989846	155989846	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:155989846C>T	ENST00000295702.4	-	2	184	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	SSR2_ENST00000529008.1_Missense_Mutation_p.R38Q|SSR2_ENST00000496742.1_Missense_Mutation_p.R38Q|SSR2_ENST00000480567.1_Missense_Mutation_p.R38Q	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	38					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGTCAGGTCTCGTCCCTCCAC	0.468																																																	0													123.0	113.0	116.0					1																	155989846		2203	4300	6503	SO:0001583	missense	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.113G>A	1.37:g.155989846C>T	ENSP00000295702:p.Arg38Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Missense_Mutation	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.R38Q	ENST00000295702.4	37	c.113	CCDS1126.1	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855938	0.91355	.	.	ENSG00000163479	ENST00000295702;ENST00000529008;ENST00000496742;ENST00000480567;ENST00000531917;ENST00000526212	.	.	.	5.22	4.19	0.49359	.	0.152203	0.44688	D	0.000430	T	0.18341	0.0440	L	0.49126	1.545	0.33547	D	0.595618	P;P;P	0.50943	0.94;0.66;0.66	B;B;B	0.40659	0.336;0.235;0.266	T	0.15492	-1.0435	9	0.38643	T	0.18	-5.4549	4.7309	0.12964	0.0:0.7363:0.0:0.2637	.	59;57;38	Q6MZE4;B4DUJ9;P43308	.;.;SSRB_HUMAN	Q	38	.	ENSP00000295702:R38Q	R	-	2	0	SSR2	154256470	0.987000	0.35691	0.997000	0.53966	0.943000	0.58893	3.441000	0.52893	2.412000	0.81896	0.430000	0.28490	CGA	SSR2	-	pfam_TRAP_beta,pirsf_TRAP_beta		0.468	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2	C	NM_003145		155989846	-1	no_errors	ENST00000295702	ensembl	human	known	70_37	missense	SNP	0.651	T
ST6GALNAC2	10610	genome.wustl.edu	37	17	74569410	74569410	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:74569410C>G	ENST00000225276.5	-	4	716	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	RP11-666A8.9_ENST00000588104.1_RNA|ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	133					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGGCACTCTCTGAGCCGTTC	0.652																																																	0													25.0	22.0	23.0					17																	74569410		2200	4297	6497	SO:0001583	missense	10610			U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.397G>C	17.37:g.74569410C>G	ENSP00000225276:p.Glu133Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12971	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E133Q	ENST00000225276.5	37	c.397	CCDS11747.1	17	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344360	0.24339	.	.	ENSG00000070731	ENST00000225276	T	0.30981	1.51	4.77	3.79	0.43588	.	0.407140	0.24864	N	0.034999	T	0.33000	0.0848	L	0.41906	1.305	0.24535	N	0.994093	P	0.51147	0.942	P	0.52793	0.709	T	0.09164	-1.0687	10	0.15499	T	0.54	-14.0278	12.1996	0.54317	0.0:0.913:0.0:0.087	.	133	Q9UJ37	SIA7B_HUMAN	Q	133	ENSP00000225276:E133Q	ENSP00000225276:E133Q	E	-	1	0	ST6GALNAC2	72081005	0.759000	0.28416	0.064000	0.19789	0.028000	0.11728	1.384000	0.34396	2.185000	0.69588	0.591000	0.81541	GAG	ST6GALNAC2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.652	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC2	HGNC	protein_coding	OTTHUMT00000450650.1	C	NM_006456		74569410	-1	no_errors	ENST00000225276	ensembl	human	known	70_37	missense	SNP	0.591	G
ST7-OT4	338069	genome.wustl.edu	37	7	116595149	116595149	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:116595149C>T	ENST00000397750.3	+	3	552	c.11C>T	c.(10-12)tCg>tTg	p.S4L	ST7_ENST00000323984.3_Intron|ST7-AS1_ENST00000456775.1_RNA|ST7_ENST00000265437.5_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000393446.2_Intron|ST7-OT4_ENST00000397751.1_Missense_Mutation_p.S4L|ST7-OT4_ENST00000466018.1_3'UTR|ST7_ENST00000393451.3_Intron					ST7 overlapping transcript 4																		ATGGCTTTCTCGCTTTTCATC	0.448																																																	0																																										SO:0001583	missense	338069			BM413623		7q31.2	2013-03-06	2013-03-06	2011-08-19	ENSG00000214188	ENSG00000214188		"""Long non-coding RNAs"", ""-"""	18835	other	unknown	"""non-protein coding RNA 42"""		"""ST7 overlapping transcript 4 (non-protein coding)"""	ST7OT4		12213198	Standard	NR_002329		Approved	NCRNA00042	uc003vip.1		OTTHUMG00000063631	ENST00000397750.3:c.11C>T	7.37:g.116595149C>T	ENSP00000380858:p.Ser4Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S4L	ENST00000397750.3	37	c.11		7	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505642	0.26949	.	.	ENSG00000214188	ENST00000397750;ENST00000397751	.	.	.	3.35	-2.1	0.07210	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.30387	-0.9980	7	0.87932	D	0	.	0.5392	0.00642	0.209:0.1546:0.3012:0.3352	.	4	A8MTU0	.	L	4	.	ENSP00000380858:S4L	S	+	2	0	ST7OT4	116382385	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.191000	0.09601	-0.490000	0.06707	-0.727000	0.03589	TCG	ST7-OT4	-	NULL		0.448	ST7-OT4-001	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	ST7-OT4	HGNC	protein_coding	OTTHUMT00000137763.3	C	NR_002329		116595149	+1	no_errors	ENST00000397750	ensembl	human	putative	70_37	missense	SNP	0.000	T
ST7	7982	genome.wustl.edu	37	7	116862962	116862962	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:116862962G>A	ENST00000265437.5	+	16	1900	c.1686G>A	c.(1684-1686)aaG>aaA	p.K562K	ST7_ENST00000393446.2_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393444.3_Intron	NM_021908.2	NP_068708.1	Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGAATTGCAAGAGTATTTTCA	0.448																																																	0													148.0	143.0	145.0					7																	116862962		2203	4300	6503	SO:0001819	synonymous_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000265437.5:c.1686G>A	7.37:g.116862962G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K137|B4DRQ2	Silent	SNP	pfam_ST7	p.K562	ENST00000265437.5	37	c.1686	CCDS5770.1	7																																																																																			ST7	-	pfam_ST7		0.448	ST7-002	KNOWN	basic|CCDS	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000141622.1	G	NM_021908		116862962	+1	no_errors	ENST00000265437	ensembl	human	known	70_37	silent	SNP	0.965	A
STAM	8027	genome.wustl.edu	37	10	17738856	17738856	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:17738856G>A	ENST00000377524.3	+	8	1026	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	STAM_ENST00000540523.1_Missense_Mutation_p.E160K|RP11-390B4.3_ENST00000445235.1_RNA	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	271					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TCTCACTGCTGAACCAGAAAT	0.368																																																	0													114.0	100.0	105.0					10																	17738856		2203	4300	6503	SO:0001583	missense	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.811G>A	10.37:g.17738856G>A	ENSP00000366746:p.Glu271Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.E271K	ENST00000377524.3	37	c.811	CCDS7122.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.907090	0.97093	.	.	ENSG00000136738	ENST00000377524;ENST00000377500;ENST00000540523	T;T	0.49720	1.18;0.77	6.16	6.16	0.99307	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.69815	0.3153	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	D	0.70227	0.968	T	0.67345	-0.5694	10	0.52906	T	0.07	-31.9394	20.4549	0.99139	0.0:0.0:1.0:0.0	.	271	Q92783	STAM1_HUMAN	K	271;174;160	ENSP00000366746:E271K;ENSP00000438073:E160K	ENSP00000366721:E174K	E	+	1	0	STAM	17778862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.748000	0.98867	2.937000	0.99478	0.650000	0.86243	GAA	STAM	-	superfamily_SH3_domain		0.368	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	G	NM_003473		17738856	+1	no_errors	ENST00000377524	ensembl	human	known	70_37	missense	SNP	1.000	A
STAP2	55620	genome.wustl.edu	37	19	4328763	4328763	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:4328763C>G	ENST00000594605.1	-	6	622	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	STAP2_ENST00000600324.1_Missense_Mutation_p.E167Q|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	167	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTAGCGCTCCAGGAGCAGT	0.701																																																	0													24.0	26.0	25.0					19																	4328763		2197	4296	6493	SO:0001583	missense	55620			AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.499G>C	19.37:g.4328763C>G	ENSP00000471052:p.Glu167Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKK3|Q9NXI2	Missense_Mutation	SNP	pfscan_SH2	p.E167Q	ENST00000594605.1	37	c.499	CCDS45926.1	19	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715856	0.89112	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.47	3.41	0.39046	SH2 motif (3);	0.120255	0.53938	U	0.000042	T	0.73094	0.3543	M	0.76328	2.33	0.47659	D	0.999487	D;D	0.56968	0.978;0.964	P;P	0.58577	0.841;0.728	T	0.75725	-0.3217	9	0.87932	D	0	-11.1001	11.4206	0.49978	0.1825:0.8174:0.0:0.0	.	167;167	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	Q	167	.	ENSP00000317912:E167Q	E	-	1	0	STAP2	4279763	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.717000	0.54911	0.840000	0.34995	0.479000	0.44913	GAG	STAP2	-	pfscan_SH2		0.701	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAP2	HGNC	protein_coding	OTTHUMT00000458114.2	C	NM_001013841		4328763	-1	no_errors	ENST00000314714	ensembl	human	known	70_37	missense	SNP	1.000	G
STMN1	3925	genome.wustl.edu	37	1	26227541	26227541	+	Missense_Mutation	SNP	G	G	C	rs3209829		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:26227541G>C	ENST00000399728.1	-	5	779	c.416C>G	c.(415-417)tCc>tGc	p.S139C	STMN1_ENST00000426559.2_Intron|STMN1_ENST00000357865.2_Missense_Mutation_p.S139C|STMN1_ENST00000465604.1_5'UTR|STMN1_ENST00000455785.2_Missense_Mutation_p.S139C|STMN1_ENST00000374291.1_Missense_Mutation_p.S139C	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1	139	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				axonogenesis (GO:0007409)|intracellular signal transduction (GO:0035556)|microtubule depolymerization (GO:0007019)|mitotic spindle organization (GO:0007052)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of cellular component movement (GO:0051272)|response to virus (GO:0009615)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|microtubule (GO:0005874)	signal transducer activity (GO:0004871)|tubulin binding (GO:0015631)			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTCTTTGGATTCTTTGTT	0.408																																																	0													211.0	201.0	205.0					1																	26227541		2203	4300	6503	SO:0001583	missense	3925			J04991	CCDS269.1, CCDS44090.1	1p36.11	2011-02-09	2009-04-28	2001-07-13	ENSG00000117632	ENSG00000117632			6510	protein-coding gene	gene with protein product	"""oncoprotein 18"""	151442	"""chromosome 1 open reading frame 215"", ""stathmin 1/oncoprotein 18"""	LAP18, C1orf215		2917975	Standard	NM_005563		Approved	SMN, OP18, PR22, PP19, PP17, Lag, FLJ32206	uc010oev.2	P16949	OTTHUMG00000007389	ENST00000399728.1:c.416C>G	1.37:g.26227541G>C	ENSP00000382633:p.Ser139Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2D1|B2R4E7|B7Z8N4|D3DPJ5	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.S139C	ENST00000399728.1	37	c.416	CCDS269.1	1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078567	0.36662	.	.	ENSG00000117632	ENST00000455785;ENST00000399728;ENST00000357865;ENST00000374291	.	.	.	5.76	5.76	0.90799	.	0.224031	0.46758	D	0.000279	T	0.24547	0.0595	N	0.12182	0.205	0.22001	N	0.999426	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09058	-1.0692	9	0.48119	T	0.1	.	8.8336	0.35098	0.0794:0.1988:0.7218:0.0	.	139;139	B5BU83;P16949	.;STMN1_HUMAN	C	139	.	ENSP00000350531:S139C	S	-	2	0	STMN1	26100128	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.836000	0.62789	2.710000	0.92621	0.655000	0.94253	TCC	STMN1	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam		0.408	STMN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STMN1	HGNC	protein_coding	OTTHUMT00000019359.1	G	NM_005563		26227541	-1	no_errors	ENST00000357865	ensembl	human	known	70_37	missense	SNP	1.000	C
STMN4	81551	genome.wustl.edu	37	8	27097546	27097546	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:27097546G>C	ENST00000265770.7	-	5	588	c.452C>G	c.(451-453)tCc>tGc	p.S151C	STMN4_ENST00000522908.1_Missense_Mutation_p.S178C|STMN4_ENST00000519997.1_Missense_Mutation_p.S142C|STMN4_ENST00000523048.1_Missense_Mutation_p.S178C|STMN4_ENST00000519614.1_Missense_Mutation_p.S151C|STMN4_ENST00000350889.4_Missense_Mutation_p.S178C			Q9H169	STMN4_HUMAN	stathmin-like 4	151	SLD. {ECO:0000255|PROSITE- ProRule:PRU00998}.				regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	CTCCTTGTTGGATTCCATCTT	0.522																																																	0													216.0	194.0	201.0					8																	27097546		2203	4300	6503	SO:0001583	missense	81551				CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.452C>G	8.37:g.27097546G>C	ENSP00000265770:p.Ser151Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam	p.S178C	ENST00000265770.7	37	c.533		8	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550869	0.65311	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.6	5.6	0.85130	.	0.169435	0.52532	D	0.000070	T	0.51278	0.1665	N	0.19112	0.55	0.38014	D	0.934647	D;P;P;D;P;P	0.62365	0.986;0.873;0.951;0.991;0.485;0.951	P;P;B;P;B;B	0.58577	0.651;0.581;0.381;0.841;0.117;0.294	T	0.57568	-0.7789	9	0.54805	T	0.06	-0.7289	10.5399	0.45026	0.0878:0.0:0.9122:0.0	.	178;142;178;151;151;178	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	C	178;142;151;178;151;178	.	ENSP00000265770:S151C	S	-	2	0	STMN4	27153463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.768000	0.68858	2.645000	0.89757	0.655000	0.94253	TCC	STMN4	-	pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam		0.522	STMN4-006	KNOWN	basic|appris_principal	protein_coding	STMN4	HGNC	protein_coding	OTTHUMT00000375941.1	G	NM_030795		27097546	-1	no_errors	ENST00000350889	ensembl	human	known	70_37	missense	SNP	1.000	C
STOX2	56977	genome.wustl.edu	37	4	184931890	184931890	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:184931890G>A	ENST00000308497.4	+	3	3334	c.1899G>A	c.(1897-1899)gtG>gtA	p.V633V	STOX2_ENST00000438269.1_Silent_p.V633V	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	633					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAAGGGGTGAAAAAGCTCT	0.587																																																	0													31.0	31.0	31.0					4																	184931890		1941	4138	6079	SO:0001819	synonymous_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1899G>A	4.37:g.184931890G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U4|Q9NPS8	Silent	SNP	pfam_Storkhead-box_winged-helix	p.V633	ENST00000308497.4	37	c.1899	CCDS47167.1	4																																																																																			STOX2	-	NULL		0.587	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	G	NM_020225		184931890	+1	no_errors	ENST00000308497	ensembl	human	known	70_37	silent	SNP	0.995	A
STPG1	90529	genome.wustl.edu	37	1	24684860	24684860	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:24684860C>T	ENST00000374409.1	-	0	1432				STPG1_ENST00000003583.8_3'UTR|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000337248.4_3'UTR|STPG1_ENST00000440416.1_3'UTR|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTCTCCAGCTCAAGACAAAGG	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	90529			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.*173G>A	1.37:g.24684860C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	RNA	SNP	-	NULL	ENST00000374409.1	37	NULL	CCDS55581.1	1																																																																																			STPG1	-	-		0.607	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	C	NM_178122		24684860	-1	no_errors	ENST00000468303	ensembl	human	known	70_37	rna	SNP	0.006	T
STRAP	11171	genome.wustl.edu	37	12	16052915	16052915	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:16052915G>C	ENST00000419869.2	+	8	1166	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	STRAP_ENST00000538352.1_Missense_Mutation_p.E191Q|STRAP_ENST00000025399.6_Missense_Mutation_p.E298Q	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	285					maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|spliceosomal snRNP assembly (GO:0000387)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CAGTGGTTCAGAAGATGGAAC	0.393																																																	0													114.0	111.0	112.0					12																	16052915		2203	4300	6503	SO:0001583	missense	11171			AB024327	CCDS8676.1	12p13.1	2013-01-10			ENSG00000023734	ENSG00000023734		"""WD repeat domain containing"""	30796	protein-coding gene	gene with protein product	"""Unr-interacting protein"""	605986					Standard	NM_007178		Approved	UNRIP, pt-wd, MAWD	uc001rdc.4	Q9Y3F4	OTTHUMG00000168791	ENST00000419869.2:c.853G>C	12.37:g.16052915G>C	ENSP00000392270:p.Glu285Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5S5|B4DNJ6|Q5TZT4|Q9NTK0|Q9UQC8	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E298Q	ENST00000419869.2	37	c.892	CCDS8676.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.841487|4.841487	0.91197|0.91197	.|.	.|.	ENSG00000023734|ENSG00000023734	ENST00000538352;ENST00000025399;ENST00000419869|ENST00000538718	T;T;T|.	0.60672|.	0.17;0.17;0.17|.	4.76|4.76	4.76|4.76	0.60689|0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.102169|.	0.64402|.	D|.	0.000002|.	T|T	0.61924|0.61924	0.2386|0.2386	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.57124|0.57124	-0.7865|-0.7865	10|5	0.51188|.	T|.	0.08|.	-23.7046|-23.7046	18.3915|18.3915	0.90485|0.90485	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	298;285|.	B4DNJ6;Q9Y3F4|.	.;STRAP_HUMAN|.	Q|T	191;298;285|51	ENSP00000439761:E191Q;ENSP00000025399:E298Q;ENSP00000392270:E285Q|.	ENSP00000025399:E298Q|.	E|R	+|+	1|2	0|0	STRAP|STRAP	15944182|15944182	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.146000|9.146000	0.94640|0.94640	2.656000|2.656000	0.90262|0.90262	0.650000|0.650000	0.86243|0.86243	GAA|AGA	STRAP	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.393	STRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRAP	HGNC	protein_coding	OTTHUMT00000401114.1	G	NM_007178		16052915	+1	no_errors	ENST00000025399	ensembl	human	known	70_37	missense	SNP	1.000	C
STXBP1	6812	genome.wustl.edu	37	9	130438193	130438193	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:130438193C>T	ENST00000373299.1	+	14	1336	c.1221C>T	c.(1219-1221)atC>atT	p.I407I	STXBP1_ENST00000373302.3_Silent_p.I407I|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	407					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAATCCGCATCATCCTTCTCT	0.498																																																	0													143.0	104.0	117.0					9																	130438193		2203	4300	6503	SO:0001819	synonymous_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1221C>T	9.37:g.130438193C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.I407	ENST00000373299.1	37	c.1221	CCDS35146.1	9																																																																																			STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.498	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	C	NM_003165		130438193	+1	no_errors	ENST00000373299	ensembl	human	known	70_37	silent	SNP	1.000	T
STXBP1	6812	genome.wustl.edu	37	9	130438202	130438202	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:130438202C>G	ENST00000373299.1	+	14	1345	c.1230C>G	c.(1228-1230)ctC>ctG	p.L410L	STXBP1_ENST00000373302.3_Silent_p.L410L|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	410					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCATCCTTCTCTACATCTTTT	0.488																																																	0													125.0	93.0	103.0					9																	130438202		2203	4300	6503	SO:0001819	synonymous_variant	6812			AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1230C>G	9.37:g.130438202C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM97|Q28208|Q62759|Q64320|Q96TG8	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L410	ENST00000373299.1	37	c.1230	CCDS35146.1	9																																																																																			STXBP1	-	pfam_Sec1-like,superfamily_Sec1-like		0.488	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP1	HGNC	protein_coding	OTTHUMT00000054229.1	C	NM_003165		130438202	+1	no_errors	ENST00000373299	ensembl	human	known	70_37	silent	SNP	1.000	G
STXBP3	6814	genome.wustl.edu	37	1	109350080	109350080	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:109350080G>A	ENST00000370008.3	+	18	1643	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	531					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GGTCAAAGCTGATTGTTTTTG	0.333																																																	0													106.0	108.0	107.0					1																	109350080		2203	4300	6503	SO:0001819	synonymous_variant	6814			D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1593G>A	1.37:g.109350080G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.L531	ENST00000370008.3	37	c.1593	CCDS790.1	1																																																																																			STXBP3	-	pfam_Sec1-like,superfamily_Sec1-like		0.333	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP3	HGNC	protein_coding	OTTHUMT00000030591.1	G	NM_007269		109350080	+1	no_errors	ENST00000370008	ensembl	human	known	70_37	silent	SNP	1.000	A
SULF2	55959	genome.wustl.edu	37	20	46290231	46290231	+	Intron	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:46290231G>T	ENST00000359930.4	-	18	3346				SULF2_ENST00000467815.1_Intron|SULF2_ENST00000361612.4_Intron|SULF2_ENST00000484875.1_Intron	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2						bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						aagttctcaggaagtgtttgt	0.488																																																	0																																										SO:0001627	intron_variant	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.2494+285C>A	20.37:g.46290231G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	RNA	SNP	-	NULL	ENST00000359930.4	37	NULL	CCDS13408.1	20																																																																																			SULF2	-	-		0.488	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	G	NM_018837		46290231	-1	no_errors	ENST00000433632	ensembl	human	known	70_37	rna	SNP	0.000	T
SUN1	23353	genome.wustl.edu	37	7	909082	909082	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:909082C>G	ENST00000405266.1	+	18	2212	c.2188C>G	c.(2188-2190)Ctg>Gtg	p.L730V	SUN1_ENST00000401592.1_Missense_Mutation_p.L693V|SUN1_ENST00000452783.2_Missense_Mutation_p.L590V|SUN1_ENST00000389574.3_Missense_Mutation_p.L610V|SUN1_ENST00000425407.2_Missense_Mutation_p.L610V|SUN1_ENST00000413514.2_Missense_Mutation_p.L491V|SUN1_ENST00000456758.2_Missense_Mutation_p.L882V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	720	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTTCACTCTGGAGCACAT	0.602																																																	0													86.0	94.0	91.0					7																	909082		2053	4213	6266	SO:0001583	missense	23353			AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2188C>G	7.37:g.909082C>G	ENSP00000384116:p.Leu730Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	pfam_RNA-bd_mt,pfam_Sad1_UNC_C	p.L882V	ENST00000405266.1	37	c.2644		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.198|7.198	0.592900|0.592900	0.13875|0.13875	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514|ENST00000433212	T;T;T;T;T;T;T;T|.	0.57273|.	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41|.	5.54|5.54	-2.53|-2.53	0.06326|0.06326	Sad1/UNC-like, C-terminal (2);|.	0.372351|.	0.27778|.	N|.	0.017898|.	T|T	0.28499|0.28499	0.0705|0.0705	L|L	0.39147|0.39147	1.195|1.195	0.30458|0.30458	N|N	0.774546|0.774546	B;B;B;B;B;B|.	0.25667|.	0.021;0.059;0.074;0.131;0.088;0.072|.	B;B;B;B;B;B|.	0.35607|.	0.206;0.126;0.077;0.126;0.072;0.062|.	T|T	0.38178|0.38178	-0.9673|-0.9673	10|5	0.72032|.	D|.	0.01|.	-8.3627|-8.3627	1.0106|1.0106	0.01496|0.01496	0.3147:0.3151:0.1642:0.2061|0.3147:0.3151:0.1642:0.2061	.|.	491;590;693;882;720;610|.	E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5|.	.;.;.;.;SUN1_HUMAN;.|.	V|C	882;610;590;730;693;720;610;618;491|541	ENSP00000388743:L882V;ENSP00000374225:L610V;ENSP00000413439:L590V;ENSP00000384116:L730V;ENSP00000384015:L693V;ENSP00000392309:L610V;ENSP00000409909:L618V;ENSP00000389313:L491V|.	ENSP00000297445:L720V|.	L|S	+|+	1|2	2|0	SUN1|SUN1	875608|875608	0.000000|0.000000	0.05858|0.05858	0.032000|0.032000	0.17829|0.17829	0.193000|0.193000	0.23685|0.23685	-1.788000|-1.788000	0.01763|0.01763	-0.296000|-0.296000	0.08947|0.08947	-0.136000|-0.136000	0.14681|0.14681	CTG|TCT	SUN1	-	pfam_Sad1_UNC_C		0.602	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	SUN1	HGNC	protein_coding	OTTHUMT00000322566.1	C	NM_025154		909082	+1	no_errors	ENST00000456758	ensembl	human	known	70_37	missense	SNP	0.000	G
SUOX	6821	genome.wustl.edu	37	12	56398056	56398056	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56398056G>A	ENST00000394109.3	+	3	1607	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	SUOX_ENST00000356124.4_Missense_Mutation_p.G295R|SUOX_ENST00000394115.2_Missense_Mutation_p.G295R|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000266971.3_Missense_Mutation_p.G295R|SUOX_ENST00000548274.1_Missense_Mutation_p.G295R			P51687	SUOX_HUMAN	sulfite oxidase	295	Moco domain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ACGCTGGGCTGGGGCACGGCT	0.582																																																	0													55.0	53.0	54.0					12																	56398056		2203	4300	6503	SO:0001583	missense	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.883G>A	12.37:g.56398056G>A	ENSP00000377668:p.Gly295Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5	p.G295R	ENST00000394109.3	37	c.883	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546064	0.65198	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19	5.11	5.11	0.69529	Oxidoreductase, molybdopterin-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96146	0.9104	10	0.87932	D	0	-0.4	17.8518	0.88748	0.0:0.0:1.0:0.0	.	295	P51687	SUOX_HUMAN	R	295	ENSP00000348440:G295R;ENSP00000266971:G295R;ENSP00000377674:G295R;ENSP00000450245:G295R;ENSP00000377668:G295R	ENSP00000266971:G295R	G	+	1	0	SUOX	54684323	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	8.924000	0.92827	2.832000	0.97577	0.585000	0.79938	GGG	SUOX	-	pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom,prints_Mopterin_OxRdtase_euk		0.582	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	G	NM_000456		56398056	+1	no_errors	ENST00000266971	ensembl	human	known	70_37	missense	SNP	1.000	A
SUOX	6821	genome.wustl.edu	37	12	56398437	56398437	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56398437G>T	ENST00000394109.3	+	3	1988	c.1264G>T	c.(1264-1266)Gaa>Taa	p.E422*	SUOX_ENST00000356124.4_Nonsense_Mutation_p.E422*|SUOX_ENST00000394115.2_Nonsense_Mutation_p.E422*|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000266971.3_Nonsense_Mutation_p.E422*|SUOX_ENST00000548274.1_Nonsense_Mutation_p.E422*			P51687	SUOX_HUMAN	sulfite oxidase	422	Homodimerization. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			ATCCATTCAGGAACTTCCTGT	0.542																																																	0													99.0	103.0	102.0					12																	56398437		2203	4300	6503	SO:0001587	stop_gained	6821			BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.1264G>T	12.37:g.56398437G>T	ENSP00000377668:p.Glu422*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5,pfscan_Cyt_B5,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5	p.E422*	ENST00000394109.3	37	c.1264	CCDS8901.2	12	.	.	.	.	.	.	.	.	.	.	G	37	6.319911	0.97471	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	.	.	.	4.96	4.96	0.65561	.	0.057225	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-29.429	17.5144	0.87769	0.0:0.0:1.0:0.0	.	.	.	.	X	422	.	ENSP00000266971:E422X	E	+	1	0	SUOX	54684704	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.741000	0.91583	2.752000	0.94435	0.467000	0.42956	GAA	SUOX	-	pfam_MoCF_OxRdtse_dimer,superfamily_Ig_E-set,prints_Mopterin_OxRdtase_euk		0.542	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUOX	HGNC	protein_coding	OTTHUMT00000250309.1	G	NM_000456		56398437	+1	no_errors	ENST00000266971	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SUSD3	203328	genome.wustl.edu	37	9	95838224	95838224	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:95838224G>C	ENST00000375472.3	+	2	283	c.247G>C	c.(247-249)Gag>Cag	p.E83Q	SUSD3_ENST00000375469.1_Missense_Mutation_p.E70Q	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	83	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GAGCATCGCTGAGTGGTCTTC	0.637																																																	0													82.0	71.0	75.0					9																	95838224		2203	4300	6503	SO:0001583	missense	203328			AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.247G>C	9.37:g.95838224G>C	ENSP00000364621:p.Glu83Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AA6|Q6UXV7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E83Q	ENST00000375472.3	37	c.247	CCDS6701.1	9	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357752	0.24598	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.64260	-0.09;-0.09	5.11	-0.475	0.12104	Complement control module (2);Sushi/SCR/CCP (3);	0.713412	0.14348	N	0.325316	T	0.32436	0.0829	N	0.20766	0.605	0.09310	N	1	B;B	0.27013	0.138;0.166	B;B	0.21151	0.022;0.033	T	0.13308	-1.0514	10	0.08381	T	0.77	-13.6001	1.145	0.01773	0.1643:0.2668:0.2964:0.2725	.	70;83	Q96L08-2;Q96L08	.;SUSD3_HUMAN	Q	83;70	ENSP00000364621:E83Q;ENSP00000364618:E70Q	ENSP00000364618:E70Q	E	+	1	0	SUSD3	94878045	0.068000	0.21057	0.037000	0.18230	0.726000	0.41606	0.247000	0.18179	0.003000	0.14656	0.561000	0.74099	GAG	SUSD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.637	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD3	HGNC	protein_coding	OTTHUMT00000053120.1	G	NM_145006		95838224	+1	no_errors	ENST00000375472	ensembl	human	known	70_37	missense	SNP	0.009	C
SV2C	22987	genome.wustl.edu	37	5	75621353	75621353	+	Missense_Mutation	SNP	G	G	A	rs574806183		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:75621353G>A	ENST00000502798.2	+	13	2607	c.2165G>A	c.(2164-2166)cGa>cAa	p.R722Q	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	722					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCTGACACACGAACCCAGGTT	0.522																																																	0													105.0	104.0	104.0					5																	75621353		2020	4185	6205	SO:0001583	missense	22987			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.2165G>A	5.37:g.75621353G>A	ENSP00000423541:p.Arg722Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q496K1|Q9UPU8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.R722Q	ENST00000502798.2	37	c.2165	CCDS43331.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517590	0.85495	.	.	ENSG00000122012	ENST00000502798	T	0.58210	0.35	5.62	4.7	0.59300	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.126377	0.52532	N	0.000079	T	0.57844	0.2081	L	0.58669	1.825	0.80722	D	1	D	0.54397	0.966	P	0.49953	0.627	T	0.61222	-0.7106	10	0.56958	D	0.05	-5.0779	13.314	0.60397	0.082:0.0:0.918:0.0	.	722	Q496J9	SV2C_HUMAN	Q	722	ENSP00000423541:R722Q	ENSP00000423541:R722Q	R	+	2	0	SV2C	75657109	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.733000	0.62036	1.239000	0.43787	0.561000	0.74099	CGA	SV2C	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata		0.522	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2C	HGNC	protein_coding	OTTHUMT00000368700.4	G			75621353	+1	no_errors	ENST00000502798	ensembl	human	known	70_37	missense	SNP	1.000	A
SVEP1	79987	genome.wustl.edu	37	9	113149654	113149654	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:113149654G>A	ENST00000401783.2	-	42	10307	c.9971C>T	c.(9970-9972)tCc>tTc	p.S3324F	SVEP1_ENST00000297826.5_Missense_Mutation_p.S1250F|SVEP1_ENST00000374469.1_Missense_Mutation_p.S3301F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3324	Sushi 32. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTGTTGCAGGAATATACCAC	0.478																																																	0													137.0	135.0	136.0					9																	113149654		1924	4115	6039	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9971C>T	9.37:g.113149654G>A	ENSP00000384917:p.Ser3324Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S3324F	ENST00000401783.2	37	c.9971	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786021	0.31593	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.66995	-0.24;-0.24;-0.24	5.09	4.19	0.49359	Complement control module (2);Sushi/SCR/CCP (3);	0.435723	0.26816	N	0.022345	T	0.62073	0.2398	M	0.61703	1.905	0.80722	D	1	P	0.46327	0.876	P	0.44597	0.454	T	0.64360	-0.6426	10	0.62326	D	0.03	.	4.5925	0.12313	0.1707:0.0:0.5339:0.2953	.	3324	Q4LDE5	SVEP1_HUMAN	F	3324;3301;1250	ENSP00000384917:S3324F;ENSP00000363593:S3301F;ENSP00000297826:S1250F	ENSP00000297826:S1250F	S	-	2	0	SVEP1	112189475	1.000000	0.71417	0.987000	0.45799	0.921000	0.55340	2.186000	0.42593	1.277000	0.44412	0.650000	0.86243	TCC	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.478	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		G			113149654	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.998	A
SVEP1	79987	genome.wustl.edu	37	9	113217957	113217957	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:113217957C>G	ENST00000401783.2	-	22	4036	c.3700G>C	c.(3700-3702)Gag>Cag	p.E1234Q	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.E1234Q|SVEP1_ENST00000374469.1_Missense_Mutation_p.E1211Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1234	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGCTGCACTCATCGATGTCT	0.433																																																	0													71.0	67.0	69.0					9																	113217957		1921	4131	6052	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3700G>C	9.37:g.113217957C>G	ENSP00000384917:p.Glu1234Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.E1234Q	ENST00000401783.2	37	c.3700	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795807	0.90453	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.91996	-2.95;-2.95;-2.95	5.79	5.79	0.91817	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.045746	0.85682	D	0.000000	D	0.96074	0.8721	M	0.76727	2.345	0.47183	D	0.999342	D;D	0.76494	0.997;0.999	D;D	0.75484	0.986;0.972	D	0.95823	0.8851	10	0.66056	D	0.02	.	20.0206	0.97499	0.0:1.0:0.0:0.0	.	1234;1234	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Q	1234;1211;1234	ENSP00000384917:E1234Q;ENSP00000363593:E1211Q;ENSP00000304118:E1234Q	ENSP00000304118:E1234Q	E	-	1	0	SVEP1	112257778	1.000000	0.71417	0.999000	0.59377	0.725000	0.41563	7.462000	0.80851	2.731000	0.93534	0.591000	0.81541	GAG	SVEP1	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.433	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		C			113217957	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	1.000	G
SVOPL	136306	genome.wustl.edu	37	7	138341201	138341201	+	Silent	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:138341201A>G	ENST00000419765.3	-	6	559	c.526T>C	c.(526-528)Ttg>Ctg	p.L176L	SVOPL_ENST00000436657.1_Silent_p.L24L|SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000288513.5_Silent_p.L24L	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	176						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ACCTGAGACAAGGGTAACATA	0.388																																																	0													149.0	134.0	139.0					7																	138341201		2203	4300	6503	SO:0001819	synonymous_variant	136306			BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.526T>C	7.37:g.138341201A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L176	ENST00000419765.3	37	c.526	CCDS47721.1	7																																																																																			SVOPL	-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SVOPL	HGNC	protein_coding	OTTHUMT00000342092.4	A	NM_174959		138341201	-1	no_errors	ENST00000419765	ensembl	human	known	70_37	silent	SNP	1.000	G
SYDE1	85360	genome.wustl.edu	37	19	15219962	15219962	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15219962G>A	ENST00000342784.2	+	2	215	c.184G>A	c.(184-186)Gag>Aag	p.E62K	SYDE1_ENST00000600252.1_5'UTR|SYDE1_ENST00000600440.1_Intron	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	62	Pro-rich.				activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CTCCAGCCCCGAGGCATCAAG	0.721																																																	0													8.0	9.0	8.0					19																	15219962		2049	4055	6104	SO:0001583	missense	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.184G>A	19.37:g.15219962G>A	ENSP00000341489:p.Glu62Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E62K	ENST00000342784.2	37	c.184	CCDS12324.1	19	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434328	0.62955	.	.	ENSG00000105137	ENST00000342784	T	0.09350	2.99	4.47	4.47	0.54385	.	0.347413	0.21684	N	0.070672	T	0.08268	0.0206	L	0.44542	1.39	0.22292	N	0.999225	B	0.30439	0.279	B	0.17979	0.02	T	0.27606	-1.0069	10	0.16420	T	0.52	.	9.9796	0.41806	0.0:0.0:0.7974:0.2026	.	62	Q6ZW31	SYDE1_HUMAN	K	62	ENSP00000341489:E62K	ENSP00000341489:E62K	E	+	1	0	SYDE1	15080962	1.000000	0.71417	0.752000	0.31206	0.570000	0.35934	6.344000	0.72991	2.046000	0.60703	0.655000	0.94253	GAG	SYDE1	-	NULL		0.721	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	G	NM_033025		15219962	+1	no_errors	ENST00000342784	ensembl	human	known	70_37	missense	SNP	0.862	A
SYN3	8224	genome.wustl.edu	37	22	32909744	32909744	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:32909744C>G	ENST00000358763.2	-	14	1920	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	SYN3_ENST00000332840.5_Missense_Mutation_p.D560H|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	560	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCTCGTCTTCACTTGGG	0.562																																																	0													162.0	120.0	134.0					22																	32909744		2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1678G>C	22.37:g.32909744C>G	ENSP00000351614:p.Asp560His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.D560H	ENST00000358763.2	37	c.1678	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502941	0.85176	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000445154	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.69187	0.3083	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.70876	-0.4753	10	0.72032	D	0.01	-5.6822	19.5608	0.95371	0.0:1.0:0.0:0.0	.	559;560	Q17R54;O14994	.;SYN3_HUMAN	H	560;560;166	ENSP00000351614:D560H;ENSP00000330219:D560H	ENSP00000330219:D560H	D	-	1	0	SYN3	31239744	1.000000	0.71417	0.887000	0.34795	0.673000	0.39480	7.469000	0.80959	2.698000	0.92095	0.561000	0.74099	GAC	SYN3	-	NULL		0.562	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	C			32909744	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152570389	152570389	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:152570389C>G	ENST00000367255.5	-	105	20080	c.19479G>C	c.(19477-19479)ctG>ctC	p.L6493L	SYNE1_ENST00000448038.1_Silent_p.L6422L|SYNE1_ENST00000265368.4_Silent_p.L6493L|SYNE1_ENST00000423061.1_Silent_p.L6422L|SYNE1_ENST00000356820.4_Silent_p.L1017L|SYNE1_ENST00000341594.5_Silent_p.L6105L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6493					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGCACTTTCAGATCATTCT	0.348										HNSCC(10;0.0054)																																							0													95.0	92.0	93.0					6																	152570389		2202	4300	6502	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19479G>C	6.37:g.152570389C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6493	ENST00000367255.5	37	c.19479	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.348	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152570389	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152765605	152765605	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:152765605C>A	ENST00000367255.5	-	30	4379	c.3778G>T	c.(3778-3780)Gag>Tag	p.E1260*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E1267*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E1260*|SYNE1_ENST00000413186.2_Nonsense_Mutation_p.E1260*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.E1260*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E1267*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E1326*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.E1250*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1260					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGATCTTCTCAGCTTGTTCC	0.373										HNSCC(10;0.0054)																																							0													126.0	124.0	125.0					6																	152765605		2203	4300	6503	SO:0001587	stop_gained	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3778G>T	6.37:g.152765605C>A	ENSP00000356224:p.Glu1260*	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1260*	ENST00000367255.5	37	c.3778	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	46	12.224394	0.99648	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	.	.	.	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	X	1260;1267;1260;1267;1326;1260;1250;1260	.	ENSP00000265368:E1260X	E	-	1	0	SYNE1	152807298	0.998000	0.40836	0.974000	0.42286	0.994000	0.84299	3.478000	0.53158	2.826000	0.97356	0.655000	0.94253	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152765605	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	nonsense	SNP	0.991	A
SYNE1	23345	genome.wustl.edu	37	6	152831344	152831344	+	Missense_Mutation	SNP	G	G	T	rs371665371		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:152831344G>T	ENST00000367255.5	-	8	1166	c.565C>A	c.(565-567)Cag>Aag	p.Q189K	SYNE1_ENST00000448038.1_Missense_Mutation_p.Q196K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q189K|SYNE1_ENST00000413186.2_Missense_Mutation_p.Q189K|SYNE1_ENST00000367253.4_Missense_Mutation_p.Q189K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q196K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q189K|SYNE1_ENST00000367248.3_Missense_Mutation_p.Q196K|SYNE1_ENST00000466159.2_Missense_Mutation_p.Q189K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	189	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTGTGTACTGAACCCACTTT	0.398										HNSCC(10;0.0054)																																							0													213.0	200.0	204.0					6																	152831344		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.565C>A	6.37:g.152831344G>T	ENSP00000356224:p.Gln189Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q189K	ENST00000367255.5	37	c.565	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210883	0.79240	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.66	5.66	0.87406	Calponin homology domain (5);	0.000000	0.56097	D	0.000022	D	0.94417	0.8204	L	0.39085	1.19	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.996;0.998;0.996	D	0.91602	0.5296	10	0.16420	T	0.52	.	19.7497	0.96263	0.0:0.0:1.0:0.0	.	189;189;189;189;196	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	K	189;196;189;196;189;189;196;189;189;189	ENSP00000356224:Q189K;ENSP00000396024:Q196K;ENSP00000265368:Q189K;ENSP00000390975:Q196K;ENSP00000341887:Q189K;ENSP00000356222:Q189K;ENSP00000356217:Q196K;ENSP00000414510:Q189K;ENSP00000446021:Q189K;ENSP00000441264:Q189K	ENSP00000265368:Q189K	Q	-	1	0	SYNE1	152873037	1.000000	0.71417	0.996000	0.52242	0.838000	0.47535	9.869000	0.99810	2.682000	0.91365	0.637000	0.83480	CAG	SYNE1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	G	NM_182961		152831344	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64408787	64408787	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:64408787C>T	ENST00000344113.4	+	6	546	c.334C>T	c.(334-336)Cat>Tat	p.H112Y	SYNE2_ENST00000358025.3_Missense_Mutation_p.H112Y|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.H112Y|SYNE2_ENST00000356081.3_Missense_Mutation_p.H112Y|SYNE2_ENST00000341472.5_Missense_Mutation_p.H112Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	112	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATAAATATTCATGTTACTGA	0.303																																																	0													86.0	80.0	82.0					14																	64408787		1802	4075	5877	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.334C>T	14.37:g.64408787C>T	ENSP00000341781:p.His112Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.H112Y	ENST00000344113.4	37	c.334	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897514	0.52121	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7	5.68	5.68	0.88126	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.56097	D	0.000039	D	0.96836	0.8967	L	0.45228	1.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.996;0.929	D	0.97069	0.9776	10	0.72032	D	0.01	.	20.1615	0.98135	0.0:1.0:0.0:0.0	.	112;112;112	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	Y	112	ENSP00000350719:H112Y;ENSP00000341781:H112Y;ENSP00000344528:H112Y;ENSP00000348382:H112Y;ENSP00000452570:H112Y	ENSP00000261678:H112Y	H	+	1	0	SYNE2	63478540	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.686000	0.54685	2.835000	0.97688	0.650000	0.86243	CAT	SYNE2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.303	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64408787	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE3	161176	genome.wustl.edu	37	14	95932321	95932321	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:95932321C>G	ENST00000334258.5	-	3	588	c.574G>C	c.(574-576)Gat>Cat	p.D192H	SYNE3_ENST00000553340.1_Missense_Mutation_p.D192H|SYNE3_ENST00000557275.1_Missense_Mutation_p.D192H	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	192					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TTCTGGGCATCTTCGTCCACG	0.617																																																	0													144.0	112.0	123.0					14																	95932321		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.574G>C	14.37:g.95932321C>G	ENSP00000334308:p.Asp192His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.D192H	ENST00000334258.5	37	c.574	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	c	12.49	1.953795	0.34471	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.10763	3.43;3.41;2.84	4.12	4.12	0.48240	.	0.186561	0.25827	N	0.028058	T	0.22044	0.0531	L	0.56769	1.78	0.18873	N	0.999989	D;D;D	0.67145	0.996;0.972;0.993	P;P;P	0.59171	0.853;0.792;0.789	T	0.02378	-1.1168	10	0.52906	T	0.07	-0.6891	10.1594	0.42842	0.0:0.9069:0.0:0.0931	.	192;192;192	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	H	192	ENSP00000334308:D192H;ENSP00000450562:D192H;ENSP00000450774:D192H	ENSP00000334308:D192H	D	-	1	0	C14orf49	95002074	0.397000	0.25270	0.029000	0.17559	0.339000	0.28857	1.859000	0.39418	1.828000	0.53243	0.298000	0.19748	GAT	SYNE3	-	NULL		0.617	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95932321	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	missense	SNP	0.097	G
SYNJ1	8867	genome.wustl.edu	37	21	34099122	34099122	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:34099122C>G	ENST00000322229.7	-	1	84	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	SYNJ1_ENST00000357345.3_Missense_Mutation_p.E29Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E68Q|SYNJ1_ENST00000382499.2_Missense_Mutation_p.E68Q|SYNJ1_ENST00000382491.3_Missense_Mutation_p.E29Q|PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1-AS1_ENST00000458479.1_RNA			O43426	SYNJ1_HUMAN	synaptojanin 1	29					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATGAGACATTCTTCCTTATGC	0.448																																																	0													157.0	135.0	143.0					21																	34099122		2203	4300	6503	SO:0001583	missense	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.85G>C	21.37:g.34099122C>G	ENSP00000322234:p.Glu29Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.E68Q	ENST00000322229.7	37	c.202	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423747	0.83667	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236;ENST00000456084	D;D;D;D;D;D	0.94000	-2.45;-3.32;-3.33;-2.54;-2.52;-2.29	4.54	3.58	0.41010	.	0.000000	0.85682	D	0.000000	D	0.94631	0.8269	M	0.76002	2.32	0.54753	D	0.999986	P;P;P;P;P	0.52463	0.911;0.849;0.953;0.849;0.879	P;B;P;B;P	0.53401	0.467;0.365;0.725;0.365;0.55	D	0.95013	0.8153	10	0.62326	D	0.03	.	13.9721	0.64247	0.0:0.8474:0.1526:0.0	.	29;68;29;29;29	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	Q	29;29;68;68;29;29;29	ENSP00000371931:E29Q;ENSP00000349903:E29Q;ENSP00000371939:E68Q;ENSP00000409667:E68Q;ENSP00000322234:E29Q;ENSP00000413649:E29Q	ENSP00000322234:E29Q	E	-	1	0	SYNJ1	33020993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.539000	0.67199	2.092000	0.63282	0.456000	0.33151	GAA	SYNJ1	-	NULL		0.448	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	HGNC	protein_coding		C			34099122	-1	no_errors	ENST00000433931	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNPO	11346	genome.wustl.edu	37	5	150029366	150029366	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:150029366C>T	ENST00000394243.1	+	3	2635	c.2261C>T	c.(2260-2262)tCa>tTa	p.S754L	SYNPO_ENST00000519664.1_Missense_Mutation_p.S510L|SYNPO_ENST00000307662.4_Missense_Mutation_p.S510L|SYNPO_ENST00000522122.1_Missense_Mutation_p.S754L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	754	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGCCCATCACCTACCATG	0.647																																																	0													68.0	84.0	78.0					5																	150029366		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2261C>T	5.37:g.150029366C>T	ENSP00000377789:p.Ser754Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.S754L	ENST00000394243.1	37	c.2261	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240108	0.79912	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.61274	0.12;0.12;0.28	5.06	5.06	0.68205	.	0.000000	0.40728	N	0.001021	T	0.76018	0.3929	M	0.69523	2.12	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.79001	-0.1981	10	0.72032	D	0.01	-13.0452	18.0401	0.89316	0.0:1.0:0.0:0.0	.	510;754	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	L	754;754;510;510	ENSP00000377789:S754L;ENSP00000428378:S754L;ENSP00000429268:S510L	ENSP00000302139:S510L	S	+	2	0	SYNPO	150009559	1.000000	0.71417	0.844000	0.33320	0.684000	0.39900	7.739000	0.84976	2.363000	0.80096	0.462000	0.41574	TCA	SYNPO	-	NULL		0.647	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	C	NM_007286		150029366	+1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.999	T
SYPL1	6856	genome.wustl.edu	37	7	105739677	105739677	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:105739677C>T	ENST00000011473.2	-	3	221	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	SYPL1_ENST00000455385.2_Missense_Mutation_p.E41K|SYPL1_ENST00000470347.1_Missense_Mutation_p.E41K	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	59	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ACTTGAATTTCTGTTTGGCCC	0.333																																																	0													85.0	85.0	85.0					7																	105739677		2203	4300	6503	SO:0001583	missense	6856				CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.175G>A	7.37:g.105739677C>T	ENSP00000011473:p.Glu59Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0R2|Q96AR8	Missense_Mutation	SNP	pfam_MARVEL-like_dom,prints_Synaptophysin/porin	p.E59K	ENST00000011473.2	37	c.175	CCDS5736.1	7	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218814	0.39201	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.29655	1.57;1.56;1.58	4.97	3.12	0.35913	Marvel (1);MARVEL-like domain (1);	0.642363	0.16761	N	0.200581	T	0.22627	0.0546	L	0.39514	1.22	0.36187	D	0.849828	P	0.39576	0.679	B	0.41135	0.348	T	0.09400	-1.0676	10	0.08837	T	0.75	.	8.0199	0.30404	0.0:0.7432:0.0:0.2568	.	59	Q16563	SYPL1_HUMAN	K	41;59;41	ENSP00000388336:E41K;ENSP00000011473:E59K;ENSP00000419070:E41K	ENSP00000011473:E59K	E	-	1	0	SYPL1	105526913	0.976000	0.34144	1.000000	0.80357	0.884000	0.51177	0.825000	0.27393	1.223000	0.43536	0.460000	0.39030	GAA	SYPL1	-	pfam_MARVEL-like_dom		0.333	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYPL1	HGNC	protein_coding	OTTHUMT00000349221.1	C			105739677	-1	no_errors	ENST00000011473	ensembl	human	known	70_37	missense	SNP	0.909	T
SYT3	84258	genome.wustl.edu	37	19	51132706	51132706	+	Nonsense_Mutation	SNP	C	C	A	rs375139764		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:51132706C>A	ENST00000338916.4	-	4	1759	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	SYT3_ENST00000593901.1_Nonsense_Mutation_p.E376*|SYT3_ENST00000544769.1_Nonsense_Mutation_p.E376*|SYT3_ENST00000600079.1_Nonsense_Mutation_p.E376*	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	376	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGGGCCAGCTCGGCCAGGGGC	0.607																																																	0													92.0	96.0	95.0					19																	51132706		2203	4300	6503	SO:0001587	stop_gained	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1126G>T	19.37:g.51132706C>A	ENSP00000340914:p.Glu376*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5Z1|Q8N640	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.E376*	ENST00000338916.4	37	c.1126	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	C	44	11.154980	0.99523	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	.	.	.	4.43	4.43	0.53597	.	0.000000	0.64402	U	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1835	0.81929	0.0:1.0:0.0:0.0	.	.	.	.	X	376	.	ENSP00000340914:E376X	E	-	1	0	SYT3	55824518	1.000000	0.71417	0.987000	0.45799	0.984000	0.73092	5.821000	0.69257	2.183000	0.69458	0.655000	0.94253	GAG	SYT3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin		0.607	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	C	NM_032298		51132706	-1	no_errors	ENST00000338916	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SYT7	9066	genome.wustl.edu	37	11	61323615	61323615	+	Silent	SNP	G	G	A	rs544775163		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:61323615G>A	ENST00000263846.4	-	2	423	c.96C>T	c.(94-96)gtC>gtT	p.V32V	SYT7_ENST00000542670.1_Silent_p.V32V|SYT7_ENST00000542836.1_Silent_p.V32V|SYT7_ENST00000540677.1_Silent_p.V32V|SYT7_ENST00000539008.1_Silent_p.V32V|SYT7_ENST00000535826.1_Silent_p.V32V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	32					exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCAGAGGACGACAGTGACGC	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18676	0.0		0.0	False		,,,				2504	0.0																0													68.0	55.0	59.0					11																	61323615		2202	4299	6501	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.96C>T	11.37:g.61323615G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F5GZU9|Q08AH6	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V32	ENST00000263846.4	37	c.96	CCDS31577.1	11																																																																																			SYT7	-	NULL		0.667	SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT7	HGNC	protein_coding	OTTHUMT00000398733.1	G	NM_004200		61323615	-1	no_errors	ENST00000263846	ensembl	human	known	70_37	silent	SNP	0.999	A
SYTL2	54843	genome.wustl.edu	37	11	85435827	85435827	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:85435827G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000359152.5_Missense_Mutation_p.P1082L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.P558L|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P558L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAACTTTGATGGAGAAAGATT	0.433																																																	0													87.0	86.0	86.0					11																	85435827		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+3111C>T	11.37:g.85435827G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P1082L	ENST00000528231.1	37	c.3245	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	2.879	-0.232265	0.05983	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.26660	1.73;1.72;1.72	5.58	2.52	0.30459	.	1.352880	0.04248	N	0.338078	T	0.19406	0.0466	L	0.32530	0.975	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.21449	-1.0245	9	.	.	.	0.294	4.232	0.10608	0.1866:0.0:0.6186:0.1948	.	558;558;558	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	L	1082;558;558	ENSP00000352065:P1082L;ENSP00000346576:P558L;ENSP00000432694:P558L	.	P	-	2	0	SYTL2	85113475	0.000000	0.05858	0.002000	0.10522	0.079000	0.17450	-0.101000	0.10973	0.918000	0.36919	0.655000	0.94253	CCA	SYTL2	-	NULL		0.433	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85435827	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.000	A
TADA2B	93624	genome.wustl.edu	37	4	7045552	7045552	+	Missense_Mutation	SNP	C	C	G	rs560212756		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:7045552C>G	ENST00000310074.7	+	1	435	c.246C>G	c.(244-246)atC>atG	p.I82M	RP11-367J11.2_ENST00000500031.1_RNA|CCDC96_ENST00000310085.4_5'Flank|TADA2B_ENST00000512388.1_Intron	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	82	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						TGGACGCCATCGAGCAGTTCG	0.726																																																	0													10.0	13.0	12.0					4																	7045552		1912	4072	5984	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.246C>G	4.37:g.7045552C>G	ENSP00000308022:p.Ile82Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.I82M	ENST00000310074.7	37	c.246	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592262	0.66219	.	.	ENSG00000173011	ENST00000310074	T	0.47528	0.84	2.6	2.6	0.31112	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	U	0.000000	T	0.67646	0.2915	M	0.84948	2.725	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	T	0.74067	-0.3784	10	0.66056	D	0.02	-22.5324	12.1304	0.53940	0.0:1.0:0.0:0.0	.	82	Q86TJ2	TAD2B_HUMAN	M	82	ENSP00000308022:I82M	ENSP00000308022:I82M	I	+	3	3	TADA2B	7096453	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.387000	0.52501	1.446000	0.47643	0.484000	0.47621	ATC	TADA2B	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Myb-like_dom		0.726	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	C	NM_152293		7045552	+1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	G
TAF3	83860	genome.wustl.edu	37	10	7860774	7860774	+	Silent	SNP	C	C	G	rs375942507	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:7860774C>G	ENST00000344293.5	+	1	308	c.102C>G	c.(100-102)ctC>ctG	p.L34L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	34					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						GCCACCTCCTCACGGACGTGC	0.677													C|||	4	0.000798722	0.0	0.0	5008	,	,		15433	0.003		0.0	False		,,,				2504	0.001																0													14.0	19.0	18.0					10																	7860774		1950	4124	6074	SO:0001819	synonymous_variant	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.102C>G	10.37:g.7860774C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L34	ENST00000344293.5	37	c.102	CCDS41487.1	10																																																																																			TAF3	-	pfam_BTP,superfamily_Histone-fold,smart_BTP		0.677	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	C	NM_031923		7860774	+1	no_errors	ENST00000344293	ensembl	human	known	70_37	silent	SNP	1.000	G
TAF3	83860	genome.wustl.edu	37	10	8006327	8006327	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:8006327C>G	ENST00000344293.5	+	3	1060	c.854C>G	c.(853-855)tCa>tGa	p.S285*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	285					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAGACTAAATCACCTAAAACC	0.418																																																	0													88.0	83.0	84.0					10																	8006327		1867	4099	5966	SO:0001587	stop_gained	83860			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.854C>G	10.37:g.8006327C>G	ENSP00000340271:p.Ser285*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Nonsense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S285*	ENST00000344293.5	37	c.854	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	C	38	6.993810	0.97987	.	.	ENSG00000165632	ENST00000344293	.	.	.	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-12.776	19.5287	0.95219	0.0:1.0:0.0:0.0	.	.	.	.	X	285	.	ENSP00000340271:S285X	S	+	2	0	TAF3	8046333	0.998000	0.40836	0.968000	0.41197	0.981000	0.71138	3.608000	0.54109	2.627000	0.88993	0.655000	0.94253	TCA	TAF3	-	NULL		0.418	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	C	NM_031923		8006327	+1	no_errors	ENST00000344293	ensembl	human	known	70_37	nonsense	SNP	1.000	G
TANC1	85461	genome.wustl.edu	37	2	160086342	160086342	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:160086342G>C	ENST00000263635.6	+	27	4642	c.4405G>C	c.(4405-4407)Gaa>Caa	p.E1469Q	TANC1_ENST00000454300.1_Missense_Mutation_p.E1363Q	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1469					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCCCCAGGAAGAATCTGTTTC	0.522																																																	0													95.0	105.0	102.0					2																	160086342		1970	4139	6109	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.4405G>C	2.37:g.160086342G>C	ENSP00000263635:p.Glu1469Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD88|Q49AI8	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.E1469Q	ENST00000263635.6	37	c.4405	CCDS42766.1	2	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471458	0.43942	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.70516	-0.49;-0.49	5.59	5.59	0.84812	.	0.369963	0.30142	N	0.010303	T	0.64735	0.2625	L	0.40543	1.245	0.40530	D	0.98092	P	0.43169	0.8	B	0.38562	0.276	T	0.64219	-0.6459	9	.	.	.	.	19.9803	0.97323	0.0:0.0:1.0:0.0	.	1469	Q9C0D5	TANC1_HUMAN	Q	1363;1469	ENSP00000396339:E1363Q;ENSP00000263635:E1469Q	.	E	+	1	0	TANC1	159794588	1.000000	0.71417	0.921000	0.36526	0.749000	0.42624	4.945000	0.63568	2.806000	0.96561	0.655000	0.94253	GAA	TANC1	-	NULL		0.522	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	G			160086342	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	missense	SNP	0.970	C
TANC2	26115	genome.wustl.edu	37	17	61432197	61432197	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:61432197G>C	ENST00000424789.2	+	12	1810	c.1806G>C	c.(1804-1806)gaG>gaC	p.E602D	TANC2_ENST00000389520.4_Missense_Mutation_p.E602D	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	602					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						GACTAGAAGAGAATGAAGCCA	0.433																																																	0													112.0	107.0	109.0					17																	61432197		1902	4122	6024	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.1806G>C	17.37:g.61432197G>C	ENSP00000387593:p.Glu602Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E602D	ENST00000424789.2	37	c.1806	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374686	0.24857	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.66280	-0.2;-0.2	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.21583	0.68	0.48901	D	0.999724	B;B	0.09022	0.001;0.002	B;B	0.10450	0.005;0.005	T	0.34378	-0.9831	10	0.02654	T	1	.	13.3273	0.60467	0.0717:0.0:0.9283:0.0	.	602;602	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	D	602	ENSP00000374171:E602D;ENSP00000387593:E602D	ENSP00000374171:E602D	E	+	3	2	TANC2	58785929	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.427000	0.44740	2.769000	0.95229	0.655000	0.94253	GAG	TANC2	-	NULL		0.433	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61432197	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	C
TAOK2	9344	genome.wustl.edu	37	16	29990151	29990151	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:29990151C>G	ENST00000308893.4	+	5	1381	c.338C>G	c.(337-339)tCt>tGt	p.S113C	TAOK2_ENST00000279394.3_Missense_Mutation_p.S113C|TAOK2_ENST00000416441.2_5'Flank|TAOK2_ENST00000543033.1_Missense_Mutation_p.S113C	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	113	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTCAGCTTCTGACCTTCTA	0.507																																																	0													87.0	81.0	83.0					16																	29990151		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.338C>G	16.37:g.29990151C>G	ENSP00000310094:p.Ser113Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	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.S113C	ENST00000308893.4	37	c.338	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948096	0.73787	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.66460	-0.21;-0.21;-0.21	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	L	0.58510	1.815	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;0.997;1.0	D;D;D;D	0.77557	0.985;0.927;0.956;0.99	T	0.77523	-0.2556	9	.	.	.	.	18.3838	0.90459	0.0:1.0:0.0:0.0	.	297;113;113;113	Q86V37;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;TAOK2_HUMAN	C	113	ENSP00000310094:S113C;ENSP00000440336:S113C;ENSP00000279394:S113C	.	S	+	2	0	TAOK2	29897652	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.818000	0.86416	2.638000	0.89438	0.313000	0.20887	TCT	TAOK2	-	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		0.507	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	C	NM_016151		29990151	+1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	G
TBC1D10B	26000	genome.wustl.edu	37	16	30381122	30381122	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:30381122G>C	ENST00000409939.3	-	1	463	c.383C>G	c.(382-384)gCa>gGa	p.A128G		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	128	Pro-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GTCTGCCCCTGCGGCCAGAGC	0.711																																																	0													9.0	14.0	13.0					16																	30381122		687	1579	2266	SO:0001583	missense	26000			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.383C>G	16.37:g.30381122G>C	ENSP00000386538:p.Ala128Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.A128G	ENST00000409939.3	37	c.383	CCDS10676.2	16	.	.	.	.	.	.	.	.	.	.	G	6.980	0.550869	0.13374	.	.	ENSG00000169221	ENST00000409939	T	0.04970	3.52	3.92	1.88	0.25563	.	.	.	.	.	T	0.03305	0.0096	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.44742	-0.9308	9	0.34782	T	0.22	.	6.6753	0.23090	0.2412:0.0:0.7588:0.0	.	128	Q4KMP7	TB10B_HUMAN	G	128	ENSP00000386538:A128G	ENSP00000386538:A128G	A	-	2	0	TBC1D10B	30288623	0.000000	0.05858	0.083000	0.20561	0.768000	0.43524	0.497000	0.22514	0.296000	0.22592	0.491000	0.48974	GCA	TBC1D10B	-	NULL		0.711	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	G	NM_015527		30381122	-1	no_errors	ENST00000409939	ensembl	human	known	70_37	missense	SNP	0.003	C
TBC1D10C	374403	genome.wustl.edu	37	11	67173162	67173162	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:67173162C>G	ENST00000542590.1	+	4	471	c.457C>G	c.(457-459)Cag>Gag	p.Q153E	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.Q153E|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.Q153E			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	153	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTGTCGCCTCAGGGCCACGG	0.637																																																	0													68.0	67.0	67.0					11																	67173162		2200	4295	6495	SO:0001583	missense	374403			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.457C>G	11.37:g.67173162C>G	ENSP00000443654:p.Gln153Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V1D6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.Q153E	ENST00000542590.1	37	c.457	CCDS8162.1	11	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765617	0.31228	.	.	ENSG00000175463	ENST00000526387;ENST00000312390;ENST00000542590	T;T;T	0.15487	2.42;2.42;2.42	4.84	3.86	0.44501	Rab-GAP/TBC domain (4);	0.000000	0.46758	D	0.000278	T	0.09379	0.0231	N	0.05554	-0.025	0.80722	D	1	B;B	0.17038	0.009;0.02	B;B	0.27262	0.03;0.078	T	0.22941	-1.0202	10	0.22109	T	0.4	.	11.6275	0.51153	0.0:0.626:0.374:0.0	.	153;153	Q8IV04;G3V1D6	TB10C_HUMAN;.	E	153	ENSP00000435543:Q153E;ENSP00000310193:Q153E;ENSP00000443654:Q153E	ENSP00000310193:Q153E	Q	+	1	0	TBC1D10C	66929738	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	4.377000	0.59562	2.236000	0.73375	0.442000	0.29010	CAG	TBC1D10C	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.637	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	C	NM_198517		67173162	+1	no_errors	ENST00000312390	ensembl	human	known	70_37	missense	SNP	1.000	G
TBC1D14	57533	genome.wustl.edu	37	4	6925609	6925609	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:6925609G>A	ENST00000409757.4	+	2	617	c.493G>A	c.(493-495)Gag>Aag	p.E165K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E165K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	165					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCTTGGGACAGAGCTGTCCAC	0.577																																																	0													101.0	82.0	89.0					4																	6925609		2203	4300	6503	SO:0001583	missense	57533			AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.493G>A	4.37:g.6925609G>A	ENSP00000386921:p.Glu165Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E165K	ENST00000409757.4	37	c.493	CCDS3394.2	4	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457048	0.84317	.	.	ENSG00000132405	ENST00000448507;ENST00000409757	T;T	0.08282	3.11;3.11	4.73	4.73	0.59995	.	0.063888	0.64402	D	0.000011	T	0.09202	0.0227	L	0.34521	1.04	0.80722	D	1	P	0.52463	0.953	B	0.43194	0.411	T	0.28106	-1.0054	9	.	.	.	-28.3138	16.8721	0.86042	0.0:0.0:1.0:0.0	.	165	Q9P2M4	TBC14_HUMAN	K	165	ENSP00000404041:E165K;ENSP00000386921:E165K	.	E	+	1	0	TBC1D14	6976510	1.000000	0.71417	0.990000	0.47175	0.777000	0.43975	8.256000	0.89848	2.467000	0.83353	0.585000	0.79938	GAG	TBC1D14	-	NULL		0.577	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D14	HGNC	protein_coding	OTTHUMT00000206981.3	G	NM_020773		6925609	+1	no_errors	ENST00000409757	ensembl	human	known	70_37	missense	SNP	0.999	A
TBL3	10607	genome.wustl.edu	37	16	2024380	2024380	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2024380G>A	ENST00000568546.1	+	4	321	c.193G>A	c.(193-195)Gac>Aac	p.D65N		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	65					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CTCCTAGGAGGACCAGGAGGA	0.657																																					Melanoma(118;616 1651 35077 38081 48633)												0													163.0	160.0	161.0					16																	2024380		2199	4300	6499	SO:0001583	missense	10607			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.193G>A	16.37:g.2024380G>A	ENSP00000454836:p.Asp65Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D65N	ENST00000568546.1	37	c.193	CCDS10453.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003154	0.74932	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.83	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.252227	0.44902	D	0.000407	T	0.78065	0.4225	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.65010	0.931	T	0.79855	-0.1627	9	0.46703	T	0.11	-34.897	16.9095	0.86137	0.0:0.0:1.0:0.0	.	65	Q12788	TBL3_HUMAN	N	65	.	ENSP00000331815:D65N	D	+	1	0	TBL3	1964381	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	7.496000	0.81526	2.213000	0.71641	0.561000	0.74099	GAC	TBL3	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.657	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL3	HGNC	protein_coding	OTTHUMT00000250615.3	G	NM_006453		2024380	+1	no_errors	ENST00000568546	ensembl	human	known	70_37	missense	SNP	1.000	A
TCAM1P	146771	genome.wustl.edu	37	17	61939783	61939783	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:61939783G>C	ENST00000478379.1	+	0	1554					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		GGTGGTCTTTGACCTTGAAGT	0.552																																																	0																																												146771			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61939783G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-		0.552	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	G			61939783	+1	no_errors	ENST00000478379	ensembl	human	known	70_37	rna	SNP	0.000	C
TCAM1P	146771	genome.wustl.edu	37	17	61940093	61940093	+	RNA	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:61940093G>T	ENST00000478379.1	+	0	1671					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		AGGACTGGATGAAGGAATAAG	0.498																																																	0																																												146771			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61940093G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-		0.498	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	G			61940093	+1	no_errors	ENST00000478379	ensembl	human	known	70_37	rna	SNP	0.041	T
TCF25	22980	genome.wustl.edu	37	16	89977541	89977541	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89977541G>C	ENST00000263346.8	+	18	1982	c.1926G>C	c.(1924-1926)ctG>ctC	p.L642L	MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.E447Q	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	642					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		ACCAGGGCCTGAACAGGCTGA	0.662																																																	0													48.0	46.0	47.0					16																	89977541		2196	4297	6493	SO:0001819	synonymous_variant	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1926G>C	16.37:g.89977541G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MK75|Q9UPV3	Missense_Mutation	SNP	pfam_TCF25	p.E447Q	ENST00000263346.8	37	c.1339	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636412	0.67130	.	.	ENSG00000141002	ENST00000263347	.	.	.	5.08	3.09	0.35607	.	.	.	.	.	T	0.42720	0.1215	.	.	.	0.24325	N	0.995029	B	0.12630	0.006	B	0.17722	0.019	T	0.41963	-0.9479	7	0.87932	D	0	.	14.8644	0.70404	0.0:0.2434:0.7566:0.0	.	447	Q9H384	.	Q	447	.	ENSP00000263347:E447Q	E	+	1	0	TCF25	88505042	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.480000	0.45206	0.529000	0.28599	-0.539000	0.04255	GAA	TCF25	-	NULL		0.662	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89977541	+1	no_errors	ENST00000263347	ensembl	human	known	70_37	missense	SNP	1.000	C
TCF25	22980	genome.wustl.edu	37	16	89977645	89977645	+	Nonstop_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:89977645G>C	ENST00000263346.8	+	18	2086	c.2030G>C	c.(2029-2031)tGa>tCa	p.*677S	MC1R_ENST00000555427.1_5'Flank|RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	0					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GAGTGGGACTGAGCGTCCGCA	0.607																																																	0													42.0	42.0	42.0					16																	89977645		2195	4296	6491	SO:0001578	stop_lost	22980			AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.2030G>C	16.37:g.89977645G>C	ENSP00000263346:p.*677Serext*26	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MK75|Q9UPV3	Nonstop_Mutation	SNP	pfam_TCF25	p.*677S	ENST00000263346.8	37	c.2030	CCDS10987.1	16	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968654	0.53614	.	.	ENSG00000141002	ENST00000263346	.	.	.	5.35	2.31	0.28768	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7362	0.34530	0.2328:0.0:0.7672:0.0	.	.	.	.	S	677	.	.	X	+	2	2	TCF25	88505146	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	2.298000	0.43602	1.248000	0.43934	0.655000	0.94253	TGA	TCF25	-	NULL		0.607	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF25	HGNC	protein_coding	OTTHUMT00000272875.2	G	NM_014972		89977645	+1	no_errors	ENST00000263346	ensembl	human	known	70_37	nonstop	SNP	1.000	C
TCF7L2	6934	genome.wustl.edu	37	10	114910865	114910865	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:114910865C>T	ENST00000355995.4	+	9	1491	c.984C>T	c.(982-984)gtC>gtT	p.V328V	TCF7L2_ENST00000536810.1_Silent_p.V328V|TCF7L2_ENST00000534894.1_Silent_p.V328V|TCF7L2_ENST00000355717.4_Silent_p.V352V|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000369397.4_Silent_p.V305V|TCF7L2_ENST00000542695.1_Silent_p.V44V|TCF7L2_ENST00000543371.1_Silent_p.V328V|TCF7L2_ENST00000545257.1_Silent_p.V328V|TCF7L2_ENST00000538897.1_Silent_p.V328V|TCF7L2_ENST00000369389.1_Silent_p.V39V|TCF7L2_ENST00000352065.5_Silent_p.V305V			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	328	Mediates interaction with MAD2L2.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGAGTGATGTCGGCTCACTCC	0.537			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0													286.0	221.0	243.0					10																	114910865		2203	4300	6503	SO:0001819	synonymous_variant	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.984C>T	10.37:g.114910865C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Silent	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V328	ENST00000355995.4	37	c.984		10																																																																																			TCF7L2	-	NULL		0.537	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	HGNC	protein_coding		C	NM_030756		114910865	+1	no_errors	ENST00000355995	ensembl	human	known	70_37	silent	SNP	0.998	T
TCHH	7062	genome.wustl.edu	37	1	152081930	152081930	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152081930C>G	ENST00000368804.1	-	2	3762	c.3763G>C	c.(3763-3765)Gat>Cat	p.D1255H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1255					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGGAATCTTCCAACTGC	0.512																																																	0													83.0	83.0	83.0					1																	152081930		2017	4178	6195	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3763G>C	1.37:g.152081930C>G	ENSP00000357794:p.Asp1255His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.D1255H	ENST00000368804.1	37	c.3763	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188115	0.38609	.	.	ENSG00000159450	ENST00000368804	T	0.17528	2.27	4.07	0.535	0.17133	.	.	.	.	.	T	0.06962	0.0177	L	0.29908	0.895	0.09310	N	1	D	0.61080	0.989	P	0.53809	0.735	T	0.19976	-1.0289	9	0.62326	D	0.03	.	1.0704	0.01620	0.1794:0.4281:0.1753:0.2172	.	1255	Q07283	TRHY_HUMAN	H	1255	ENSP00000357794:D1255H	ENSP00000357794:D1255H	D	-	1	0	TCHH	150348554	0.000000	0.05858	0.023000	0.16930	0.646000	0.38490	0.039000	0.13884	0.715000	0.32103	0.563000	0.77884	GAT	TCHH	-	NULL		0.512	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152081930	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.001	G
TCHH	7062	genome.wustl.edu	37	1	152085374	152085374	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:152085374C>G	ENST00000368804.1	-	2	318	c.319G>C	c.(319-321)Gag>Cag	p.E107Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	107					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACAGGCTCTCCTTTCCGTCA	0.532																																																	0													156.0	150.0	152.0					1																	152085374		1941	4146	6087	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.319G>C	1.37:g.152085374C>G	ENSP00000357794:p.Glu107Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E107Q	ENST00000368804.1	37	c.319	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	2.172	-0.389754	0.04932	.	.	ENSG00000159450	ENST00000368804	T	0.05258	3.47	5.01	-0.432	0.12291	.	.	.	.	.	T	0.00695	0.0023	N	0.08118	0	0.09310	N	1	P	0.42827	0.791	B	0.28849	0.095	T	0.47749	-0.9093	9	0.20046	T	0.44	-25.9879	7.8844	0.29642	0.0:0.3822:0.0:0.6178	.	107	Q07283	TRHY_HUMAN	Q	107	ENSP00000357794:E107Q	ENSP00000357794:E107Q	E	-	1	0	TCHH	150351998	0.001000	0.12720	0.002000	0.10522	0.020000	0.10135	-0.320000	0.08028	0.036000	0.15547	0.552000	0.68991	GAG	TCHH	-	NULL		0.532	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152085374	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.317	G
TCOF1	6949	genome.wustl.edu	37	5	149767590	149767590	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149767590G>C	ENST00000504761.2	+	18	2985	c.2985G>C	c.(2983-2985)agG>agC	p.R995S	TCOF1_ENST00000445265.2_Missense_Mutation_p.R918S|TCOF1_ENST00000451292.1_Missense_Mutation_p.R1032S|TCOF1_ENST00000513346.1_Missense_Mutation_p.R1032S|TCOF1_ENST00000323668.7_Missense_Mutation_p.R918S|TCOF1_ENST00000377797.3_Missense_Mutation_p.R995S|TCOF1_ENST00000439160.2_Missense_Mutation_p.R995S			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	995					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAGCCAGGAGCTCCTCCT	0.647																																																	0													52.0	55.0	54.0					5																	149767590		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2985G>C	5.37:g.149767590G>C	ENSP00000421655:p.Arg995Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.R1032S	ENST00000504761.2	37	c.3096	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	9.336	1.061889	0.19987	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.73789	-0.78;-0.68;-0.71;-0.71;0.1;-0.71;-0.68;-0.71	5.8	2.7	0.31948	.	0.971961	0.08399	N	0.951682	T	0.54029	0.1833	N	0.24115	0.695	0.18873	N	0.999982	B;B;B;B;B;B	0.26744	0.158;0.053;0.053;0.053;0.031;0.053	B;B;B;B;B;B	0.20955	0.028;0.032;0.032;0.032;0.014;0.032	T	0.42481	-0.9449	10	0.11485	T	0.65	-2.465	4.3422	0.11115	0.2032:0.1898:0.607:0.0	.	504;995;918;995;995;918	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;.;TCOF_HUMAN;.	S	1032;995;918;918;995;995;995;1032	ENSP00000400939:R1032S;ENSP00000367028:R995S;ENSP00000409944:R918S;ENSP00000325223:R918S;ENSP00000406888:R995S;ENSP00000390717:R995S;ENSP00000421655:R995S;ENSP00000427484:R1032S	ENSP00000325223:R918S	R	+	3	2	TCOF1	149747783	0.983000	0.35010	0.917000	0.36280	0.425000	0.31504	1.515000	0.35845	1.451000	0.47736	0.655000	0.94253	AGG	TCOF1	-	NULL		0.647	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149767590	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.485	C
TCOF1	6949	genome.wustl.edu	37	5	149767615	149767615	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149767615G>A	ENST00000504761.2	+	18	3010	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K	TCOF1_ENST00000445265.2_Missense_Mutation_p.E927K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E1041K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E1041K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E927K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E1004K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E1004K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1004					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCGAGGATGAGGACGTGAT	0.657																																																	0													57.0	55.0	56.0					5																	149767615		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3010G>A	5.37:g.149767615G>A	ENSP00000421655:p.Glu1004Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E1041K	ENST00000504761.2	37	c.3121	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516059	0.85495	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	D;D;D;D;T;D;D;D	0.88431	-2.2;-2.24;-2.22;-2.22;-0.23;-2.3;-2.23;-2.38	5.8	5.8	0.92144	.	0.151227	0.31113	N	0.008223	D	0.92140	0.7508	L	0.54323	1.7	0.34780	D	0.734689	D;D;D;D;D;D	0.69078	0.987;0.997;0.997;0.997;0.995;0.997	P;D;D;D;P;D	0.65443	0.808;0.935;0.935;0.935;0.862;0.935	D	0.93298	0.6674	10	0.35671	T	0.21	-23.0674	15.5631	0.76266	0.0:0.0:1.0:0.0	.	513;1004;927;1004;1004;927	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;.;TCOF_HUMAN;.	K	1041;1004;927;927;1004;1004;1004;1041	ENSP00000400939:E1041K;ENSP00000367028:E1004K;ENSP00000409944:E927K;ENSP00000325223:E927K;ENSP00000406888:E1004K;ENSP00000390717:E1004K;ENSP00000421655:E1004K;ENSP00000427484:E1041K	ENSP00000325223:E927K	E	+	1	0	TCOF1	149747808	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	4.859000	0.62954	2.735000	0.93741	0.655000	0.94253	GAG	TCOF1	-	NULL		0.657	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149767615	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	1.000	A
TCOF1	6949	genome.wustl.edu	37	5	149769569	149769569	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:149769569G>A	ENST00000504761.2	+	19	3166	c.3166G>A	c.(3166-3168)Gag>Aag	p.E1056K	TCOF1_ENST00000445265.2_Missense_Mutation_p.E979K|TCOF1_ENST00000451292.1_Missense_Mutation_p.E1093K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E1093K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E979K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E1056K|TCOF1_ENST00000439160.2_Missense_Mutation_p.E1056K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1056					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGAAACAGGAGGGACCAGC	0.597																																																	0													46.0	36.0	40.0					5																	149769569		2203	4300	6503	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.3166G>A	5.37:g.149769569G>A	ENSP00000421655:p.Glu1056Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.E1093K	ENST00000504761.2	37	c.3277	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878496	0.33162	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.75938	-0.95;-0.98;-0.96;-0.97;-0.84;-0.89;-0.98;-0.86	4.8	1.81	0.25067	.	0.810646	0.10715	N	0.642374	T	0.58177	0.2104	L	0.33485	1.01	0.18873	N	0.999981	B;B;B;B;B	0.19331	0.035;0.035;0.035;0.02;0.035	B;B;B;B;B	0.17722	0.019;0.019;0.019;0.008;0.019	T	0.41431	-0.9509	10	0.25106	T	0.35	-11.1948	3.7628	0.08610	0.2524:0.2015:0.5461:0.0	.	1056;979;1056;1056;979	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	K	1093;1056;979;979;1056;1056;1056;1093	ENSP00000400939:E1093K;ENSP00000367028:E1056K;ENSP00000409944:E979K;ENSP00000325223:E979K;ENSP00000406888:E1056K;ENSP00000390717:E1056K;ENSP00000421655:E1056K;ENSP00000427484:E1093K	ENSP00000325223:E979K	E	+	1	0	TCOF1	149749762	0.991000	0.36638	0.885000	0.34714	0.132000	0.20833	1.107000	0.31110	0.240000	0.21263	-0.172000	0.13284	GAG	TCOF1	-	NULL		0.597	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	G	NM_001008656		149769569	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.740	A
TCP11L2	255394	genome.wustl.edu	37	12	106729840	106729840	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:106729840G>A	ENST00000299045.3	+	8	1165	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	331										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACGTCTTCAGGAACTAACAGA	0.378																																																	0													88.0	78.0	81.0					12																	106729840		2203	4300	6503	SO:0001583	missense	255394			BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.991G>A	12.37:g.106729840G>A	ENSP00000299045:p.Glu331Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA65|G3V1Y9	Missense_Mutation	SNP	pfam_Tcp11	p.E331K	ENST00000299045.3	37	c.991	CCDS9104.1	12	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427203	0.83667	.	.	ENSG00000166046	ENST00000299045	T	0.12147	2.71	5.73	4.84	0.62591	.	0.090982	0.85682	N	0.000000	T	0.31638	0.0803	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.16041	-1.0416	10	0.09084	T	0.74	-2.9535	15.1635	0.72803	0.0679:0.0:0.9321:0.0	.	331	Q8N4U5	T11L2_HUMAN	K	331	ENSP00000299045:E331K	ENSP00000299045:E331K	E	+	1	0	TCP11L2	105253970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.861000	0.56002	1.561000	0.49584	0.655000	0.94253	GAA	TCP11L2	-	pfam_Tcp11		0.378	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L2	HGNC	protein_coding	OTTHUMT00000407206.1	G	NM_152772		106729840	+1	no_errors	ENST00000299045	ensembl	human	known	70_37	missense	SNP	1.000	A
TCTN1	79600	genome.wustl.edu	37	12	111078937	111078937	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:111078937G>C	ENST00000551590.1	+	9	1243	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q	TCTN1_ENST00000397659.4_Missense_Mutation_p.E363Q|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Missense_Mutation_p.E349Q|TCTN1_ENST00000377654.3_Missense_Mutation_p.E185Q			Q2MV58	TECT1_HUMAN	tectonic family member 1	363					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCAAAAGTTTGAAATTCATTT	0.393																																																	0													144.0	133.0	137.0					12																	111078937		1889	4105	5994	SO:0001583	missense	79600			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1087G>C	12.37:g.111078937G>C	ENSP00000448735:p.Glu363Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	pfam_DUF1619	p.E363Q	ENST00000551590.1	37	c.1087	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665622	0.47677	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.87	3.94	0.45596	Domain of unknown function DUF1619 (1);	0.288960	0.41294	D	0.000914	T	0.71533	0.3351	L	0.31926	0.97	0.25588	N	0.986724	B;B;B;B;B	0.33826	0.053;0.427;0.286;0.053;0.187	B;B;B;B;B	0.31495	0.071;0.131;0.093;0.047;0.111	T	0.61926	-0.6962	10	0.32370	T	0.25	-9.6795	9.5212	0.39135	0.1406:0.1306:0.7288:0.0	.	363;349;363;303;307	Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4	TECT1_HUMAN;.;.;.;.	Q	303;363;349;185;185;363;307	ENSP00000448735:E363Q;ENSP00000380775:E349Q;ENSP00000366882:E185Q;ENSP00000380779:E363Q	ENSP00000366882:E185Q	E	+	1	0	TCTN1	109563320	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	1.783000	0.38664	1.482000	0.48325	0.655000	0.94253	GAA	TCTN1	-	pfam_DUF1619		0.393	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	G	NM_024549		111078937	+1	no_errors	ENST00000397659	ensembl	human	known	70_37	missense	SNP	0.996	C
TDRD10	126668	genome.wustl.edu	37	1	154516547	154516547	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:154516547C>T	ENST00000368480.3	+	9	697	c.612C>T	c.(610-612)gtC>gtT	p.V204V	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Silent_p.V204V			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	204							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGAGTATCGTCCCGAAGACCC	0.622																																																	0													146.0	112.0	123.0					1																	154516547		2203	4300	6503	SO:0001819	synonymous_variant	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.612C>T	1.37:g.154516547C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Silent	SNP	pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V204	ENST00000368480.3	37	c.612	CCDS41406.1	1																																																																																			TDRD10	-	pfam_Tudor		0.622	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	HGNC	protein_coding	OTTHUMT00000090700.2	C	NM_182499		154516547	+1	no_errors	ENST00000368480	ensembl	human	known	70_37	silent	SNP	0.000	T
TDRD6	221400	genome.wustl.edu	37	6	46657383	46657383	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:46657383G>T	ENST00000316081.6	+	1	1518	c.1518G>T	c.(1516-1518)ttG>ttT	p.L506F	TDRD6_ENST00000544460.1_Missense_Mutation_p.L506F|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	506					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATTAGGTTGAGGAAACACA	0.418																																																	0													114.0	109.0	111.0					6																	46657383		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1518G>T	6.37:g.46657383G>T	ENSP00000346065:p.Leu506Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L506F	ENST00000316081.6	37	c.1518	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681790	0.47991	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09817	2.94;2.94	5.88	4.99	0.66335	Maternal tudor protein (1);	0.421479	0.23049	N	0.052519	T	0.14787	0.0357	M	0.78637	2.42	0.32198	N	0.578245	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.10177	-1.0641	10	0.11182	T	0.66	-5.7504	9.0052	0.36106	0.0:0.1777:0.5559:0.2664	.	506;506	F5H5M3;O60522	.;TDRD6_HUMAN	F	506	ENSP00000443299:L506F;ENSP00000346065:L506F	ENSP00000346065:L506F	L	+	3	2	TDRD6	46765342	0.926000	0.31397	0.999000	0.59377	0.994000	0.84299	0.543000	0.23237	1.424000	0.47217	0.655000	0.94253	TTG	TDRD6	-	pfam_Tudor		0.418	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46657383	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.930	T
TEKT1	83659	genome.wustl.edu	37	17	6718600	6718600	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:6718600G>C	ENST00000338694.2	-	5	640	c.511C>G	c.(511-513)Ctt>Gtt	p.L171V	TEKT1_ENST00000535086.1_Missense_Mutation_p.L25V	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	171						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTTCTCAAGATTGTACTTG	0.498																																																	0													183.0	169.0	174.0					17																	6718600		2203	4300	6503	SO:0001583	missense	83659				CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.511C>G	17.37:g.6718600G>C	ENSP00000341346:p.Leu171Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTM7	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.L171V	ENST00000338694.2	37	c.511	CCDS11083.1	17	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897985	0.72639	.	.	ENSG00000167858	ENST00000338694;ENST00000535086	T;T	0.06608	3.28;3.28	5.18	4.19	0.49359	.	0.070093	0.64402	D	0.000015	T	0.26085	0.0636	M	0.86740	2.835	0.52099	D	0.999942	D	0.71674	0.998	D	0.67382	0.951	T	0.03545	-1.1026	10	0.49607	T	0.09	.	12.203	0.54337	0.0854:0.0:0.9146:0.0	.	171	Q969V4	TEKT1_HUMAN	V	171;25	ENSP00000341346:L171V;ENSP00000444142:L25V	ENSP00000341346:L171V	L	-	1	0	TEKT1	6659324	0.997000	0.39634	0.962000	0.40283	0.993000	0.82548	2.438000	0.44837	1.292000	0.44672	0.655000	0.94253	CTT	TEKT1	-	pfam_Tektin		0.498	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT1	HGNC	protein_coding	OTTHUMT00000219867.2	G	NM_053285		6718600	-1	no_errors	ENST00000338694	ensembl	human	known	70_37	missense	SNP	0.993	C
TENC1	23371	genome.wustl.edu	37	12	53454751	53454751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:53454751C>T	ENST00000314250.6	+	20	3351	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	TENC1_ENST00000451358.1_Nonsense_Mutation_p.R1011*|TENC1_ENST00000379902.3_Nonsense_Mutation_p.R897*|TENC1_ENST00000314276.3_Nonsense_Mutation_p.R1031*|TENC1_ENST00000552570.1_Nonsense_Mutation_p.R1021*|TENC1_ENST00000546602.1_Nonsense_Mutation_p.R924*|TENC1_ENST00000549700.1_Nonsense_Mutation_p.R956*	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1021	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.R1021*(1)|p.R1031*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAAGGCCCTCGAGGCCCCCC	0.687																																																	2	Substitution - Nonsense(2)	lung(2)											16.0	17.0	17.0					12																	53454751		2200	4293	6493	SO:0001587	stop_gained	23371			AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.3061C>T	12.37:g.53454751C>T	ENSP00000319684:p.Arg1021*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Nonsense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.R1031*	ENST00000314250.6	37	c.3091	CCDS8843.1	12	.	.	.	.	.	.	.	.	.	.	C	43	9.921826	0.99297	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000546602;ENST00000552570;ENST00000549700	.	.	.	4.55	4.55	0.56014	.	0.709097	0.13060	N	0.416931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9789	13.0164	0.58759	0.0:1.0:0.0:0.0	.	.	.	.	X	897;1031;1021;1011;924;1021;956	.	ENSP00000319684:R1021X	R	+	1	2	TENC1	51741018	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	0.268000	0.18571	2.537000	0.85549	0.561000	0.74099	CGA	TENC1	-	NULL		0.687	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TENC1	HGNC	protein_coding	OTTHUMT00000405779.1	C	NM_170754		53454751	+1	no_errors	ENST00000314276	ensembl	human	known	70_37	nonsense	SNP	0.788	T
TENM1	10178	genome.wustl.edu	37	X	124029919	124029919	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:124029919G>A	ENST00000371130.3	-	2	452	c.389C>T	c.(388-390)tCa>tTa	p.S130L	TENM1_ENST00000422452.2_Missense_Mutation_p.S130L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	130	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTATGCTCTGATTTCATTCC	0.473																																																	0													281.0	230.0	247.0					X																	124029919		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.389C>T	X.37:g.124029919G>A	ENSP00000360171:p.Ser130Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S130L	ENST00000371130.3	37	c.389	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029984	0.93575	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.41400	1.0;1.0	5.56	5.56	0.83823	Teneurin intracellular, N-terminal (2);	0.000000	0.64402	D	0.000013	T	0.63331	0.2502	L	0.60455	1.87	0.80722	D	1	D;D;D	0.62365	0.991;0.991;0.991	D;D;D	0.78314	0.991;0.991;0.991	T	0.65274	-0.6208	10	0.87932	D	0	.	18.7885	0.91964	0.0:0.0:1.0:0.0	.	130;130;130	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	130	ENSP00000360171:S130L;ENSP00000403954:S130L	ENSP00000360171:S130L	S	-	2	0	ODZ1	123857600	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	9.384000	0.97219	2.469000	0.83416	0.600000	0.82982	TCA	TENM1	-	pfam_Ten_N		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		124029919	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	1.000	A
TES	26136	genome.wustl.edu	37	7	115892027	115892027	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:115892027G>A	ENST00000358204.4	+	5	1131	c.916G>A	c.(916-918)Gag>Aag	p.E306K	TES_ENST00000537767.1_Missense_Mutation_p.E64K|AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Missense_Mutation_p.E297K	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	306	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGGCTGTGACGAGGTATGTTC	0.483																																																	0													62.0	55.0	57.0					7																	115892027		2203	4300	6503	SO:0001583	missense	26136			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.916G>A	7.37:g.115892027G>A	ENSP00000350937:p.Glu306Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0U6|Q9GZQ1|Q9HAJ9	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E306K	ENST00000358204.4	37	c.916	CCDS5763.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.640668	0.96693	.	.	ENSG00000135269	ENST00000358204;ENST00000537767;ENST00000257721;ENST00000393481	D;D;D	0.86366	-2.11;-2.11;-2.11	5.61	5.61	0.85477	Zinc finger, LIM-type (5);	0.000000	0.64402	D	0.000001	D	0.92625	0.7657	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92691	0.6166	10	0.87932	D	0	-42.6413	20.0016	0.97412	0.0:0.0:1.0:0.0	.	306	Q9UGI8	TES_HUMAN	K	306;64;306;297	ENSP00000350937:E306K;ENSP00000441607:E64K;ENSP00000377121:E297K	ENSP00000257721:E306K	E	+	1	0	TES	115679263	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.813000	0.99286	2.802000	0.96397	0.655000	0.94253	GAG	TES	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.483	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	HGNC	protein_coding	OTTHUMT00000059413.2	G	NM_015641		115892027	+1	no_errors	ENST00000358204	ensembl	human	known	70_37	missense	SNP	1.000	A
TET3	200424	genome.wustl.edu	37	2	74274014	74274014	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74274014C>T	ENST00000409262.3	+	1	565	c.565C>T	c.(565-567)Ctc>Ttc	p.L189F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	189					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGGCCACTCCTCAGCTCAGA	0.642																																																	0													23.0	26.0	25.0					2																	74274014		2002	4163	6165	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.565C>T	2.37:g.74274014C>T	ENSP00000386869:p.Leu189Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.L189F	ENST00000409262.3	37	c.565	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	8.325	0.825080	0.16678	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.25250	1.81;2.68	5.46	4.58	0.56647	.	.	.	.	.	T	0.19446	0.0467	N	0.19112	0.55	0.24527	N	0.994131	P	0.37955	0.612	B	0.41088	0.347	T	0.11131	-1.0600	9	0.49607	T	0.09	.	8.2468	0.31693	0.1578:0.7625:0.0:0.0796	.	189	O43151	TET3_HUMAN	F	231;189;189	ENSP00000307803:L231F;ENSP00000386869:L189F	ENSP00000233310:L189F	L	+	1	0	TET3	74127522	0.000000	0.05858	0.874000	0.34290	0.178000	0.23041	0.992000	0.29667	1.302000	0.44855	-0.310000	0.09108	CTC	TET3	-	NULL		0.642	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74274014	+1	no_errors	ENST00000409262	ensembl	human	known	70_37	missense	SNP	0.872	T
TET3	200424	genome.wustl.edu	37	2	74320052	74320052	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74320052C>A	ENST00000409262.3	+	6	2658	c.2658C>A	c.(2656-2658)ttC>ttA	p.F886L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	886					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAAGAGTTTCCAGGACCTGG	0.617																																																	0													22.0	23.0	23.0					2																	74320052		1938	4143	6081	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.2658C>A	2.37:g.74320052C>A	ENSP00000386869:p.Phe886Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NULL	p.F886L	ENST00000409262.3	37	c.2658	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234082	0.39498	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.06608	3.28	4.61	2.78	0.32641	TET cysteine-rich domain (1);	0.051628	0.85682	D	0.000000	T	0.04543	0.0124	N	0.12920	0.275	0.53688	D	0.99997	B	0.29909	0.261	B	0.39119	0.291	T	0.50118	-0.8865	10	0.15066	T	0.55	.	7.3602	0.26742	0.0:0.7155:0.0:0.2845	.	886	O43151	TET3_HUMAN	L	886	ENSP00000386869:F886L	ENSP00000233310:F886L	F	+	3	2	TET3	74173560	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.689000	0.25437	0.637000	0.30526	0.655000	0.94253	TTC	TET3	-	NULL		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74320052	+1	no_errors	ENST00000409262	ensembl	human	known	70_37	missense	SNP	1.000	A
TFCP2L1	29842	genome.wustl.edu	37	2	122007206	122007206	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:122007206G>A	ENST00000263707.5	-	3	329	c.232C>T	c.(232-234)Cga>Tga	p.R78*		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	78					cell morphogenesis (GO:0000902)|cytoplasm organization (GO:0007028)|determination of adult lifespan (GO:0008340)|epithelial cell maturation (GO:0002070)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of growth (GO:0045927)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|salivary gland development (GO:0007431)|steroid biosynthetic process (GO:0006694)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCCAGTAGTCGGATTTCATAA	0.458																																																	0													107.0	113.0	111.0					2																	122007206		2203	4300	6503	SO:0001587	stop_gained	29842			AF198488	CCDS2134.1	2q14	2008-02-05			ENSG00000115112	ENSG00000115112			17925	protein-coding gene	gene with protein product		609785				10644752, 11073954	Standard	NM_014553		Approved	LBP-9, CRTR1	uc002tmx.3	Q9NZI6	OTTHUMG00000131443	ENST00000263707.5:c.232C>T	2.37:g.122007206G>A	ENSP00000263707:p.Arg78*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZG43	Nonsense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.R78*	ENST00000263707.5	37	c.232	CCDS2134.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.395234	0.97533	.	.	ENSG00000115112	ENST00000263707	.	.	.	5.76	4.88	0.63580	.	0.129573	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9405	0.64052	0.0:0.0:0.7237:0.2763	.	.	.	.	X	78	.	ENSP00000263707:R78X	R	-	1	2	TFCP2L1	121723676	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	4.623000	0.61247	1.409000	0.46915	0.655000	0.94253	CGA	TFCP2L1	-	pfam_CP2		0.458	TFCP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2L1	HGNC	protein_coding	OTTHUMT00000338539.1	G	NM_014553		122007206	-1	no_errors	ENST00000263707	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TGM3	7053	genome.wustl.edu	37	20	2297832	2297832	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:2297832C>T	ENST00000381458.5	+	6	851	c.788C>T	c.(787-789)tCt>tTt	p.S263F	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	263					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGAAAAAATCTGGCTTCAGC	0.577																																																	0													84.0	88.0	87.0					20																	2297832		2203	4300	6503	SO:0001583	missense	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.788C>T	20.37:g.2297832C>T	ENSP00000370867:p.Ser263Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S263F	ENST00000381458.5	37	c.788	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503095	0.44558	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.55234	0.53	5.7	4.68	0.58851	.	0.534997	0.21187	N	0.078709	T	0.69097	0.3073	M	0.78285	2.405	0.09310	N	0.999999	D	0.76494	0.999	D	0.67103	0.949	T	0.60454	-0.7260	10	0.32370	T	0.25	.	12.6893	0.56966	0.2358:0.7642:0.0:0.0	.	263	Q08188	TGM3_HUMAN	F	263	ENSP00000370867:S263F	ENSP00000370867:S263F	S	+	2	0	TGM3	2245832	0.000000	0.05858	0.934000	0.37439	0.533000	0.34776	0.950000	0.29122	2.683000	0.91414	0.655000	0.94253	TCT	TGM3	-	NULL		0.577	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	C	NM_003245		2297832	+1	no_errors	ENST00000381458	ensembl	human	known	70_37	missense	SNP	0.016	T
THSD7A	221981	genome.wustl.edu	37	7	11486868	11486868	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:11486868C>T	ENST00000423059.4	-	12	3040	c.2789G>A	c.(2788-2790)cGc>cAc	p.R930H	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	930	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AACAAGAGTGCGCTTTCTGGT	0.463										HNSCC(18;0.044)																																							0													82.0	75.0	77.0					7																	11486868		1942	4153	6095	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2789G>A	7.37:g.11486868C>T	ENSP00000406482:p.Arg930His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R930H	ENST00000423059.4	37	c.2789	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.425012	0.96131	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.66099	-0.19	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.80549	0.4644	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79734	-0.1679	10	0.52906	T	0.07	.	20.2279	0.98344	0.0:1.0:0.0:0.0	.	930	Q9UPZ6	THS7A_HUMAN	H	930	ENSP00000406482:R930H	ENSP00000262042:R930H	R	-	2	0	THSD7A	11453393	1.000000	0.71417	0.948000	0.38648	0.987000	0.75469	7.818000	0.86416	2.778000	0.95560	0.655000	0.94253	CGC	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	C	XM_928187.2		11486868	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	T
THSD7B	80731	genome.wustl.edu	37	2	138375966	138375966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:138375966G>A	ENST00000409968.1	+	19	3748	c.3570G>A	c.(3568-3570)tgG>tgA	p.W1190*	THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1193*|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1162*|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1192	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGTAGAGTGGAGCACATGCC	0.498																																																	0													80.0	87.0	85.0					2																	138375966		2084	4212	6296	SO:0001587	stop_gained	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3570G>A	2.37:g.138375966G>A	ENSP00000387145:p.Trp1190*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.W1193*	ENST00000409968.1	37	c.3579		2	.	.	.	.	.	.	.	.	.	.	G	44	10.813582	0.99471	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	.	.	.	X	1190;1193;1162	.	ENSP00000272643:W1193X	W	+	3	0	THSD7B	138092436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.051000	0.93849	2.567000	0.86603	0.650000	0.86243	TGG	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138375966	+1	no_errors	ENST00000272643	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TIAL1	7073	genome.wustl.edu	37	10	121342023	121342023	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:121342023C>G	ENST00000436547.2	-	3	220	c.176G>C	c.(175-177)aGa>aCa	p.R59T	TIAL1_ENST00000369092.4_5'UTR|TIAL1_ENST00000369093.2_Missense_Mutation_p.R76T	NM_003252.3	NP_003243.1	Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	59	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|defense response (GO:0006952)|germ cell development (GO:0007281)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell division (GO:0017145)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		AGCTGCATCTCTGTGTTCATA	0.398																																																	0													111.0	117.0	115.0					10																	121342023		2203	4300	6503	SO:0001583	missense	7073			AL833106	CCDS7613.1, CCDS31295.1	10q	2013-02-12	2001-11-28		ENSG00000151923	ENSG00000151923		"""RNA binding motif (RRM) containing"""	11804	protein-coding gene	gene with protein product		603413	"""TIA1 cytotoxic granule-associated RNA-binding protein-like 1"""			1326761	Standard	XM_005270108		Approved	TIAR	uc001lej.1	Q01085	OTTHUMG00000019156	ENST00000436547.2:c.176G>C	10.37:g.121342023C>G	ENSP00000394902:p.Arg59Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3T0|A8K4L9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.R76T	ENST00000436547.2	37	c.227	CCDS7613.1	10	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799911	0.70567	.	.	ENSG00000151923	ENST00000369093;ENST00000436547;ENST00000412524;ENST00000369086	T;T;T;T	0.17213	3.34;2.29;3.34;3.34	5.91	5.91	0.95273	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042515	0.85682	D	0.000000	T	0.19046	0.0457	N	0.17901	0.54	0.80722	D	1	B;P	0.41848	0.005;0.763	B;P	0.46208	0.02;0.507	T	0.01848	-1.1261	10	0.27082	T	0.32	-22.1808	20.3018	0.98617	0.0:1.0:0.0:0.0	.	76;59	A8K4L9;Q01085	.;TIAR_HUMAN	T	76;59;20;20	ENSP00000358089:R76T;ENSP00000394902:R59T;ENSP00000403573:R20T;ENSP00000358082:R20T	ENSP00000358082:R20T	R	-	2	0	TIAL1	121332013	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.855000	0.69510	2.799000	0.96334	0.650000	0.86243	AGA	TIAL1	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.398	TIAL1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAL1	HGNC	protein_coding	OTTHUMT00000050672.2	C	NM_022333, NM_003252		121342023	-1	no_errors	ENST00000369093	ensembl	human	known	70_37	missense	SNP	1.000	G
TIAM2	26230	genome.wustl.edu	37	6	155575620	155575620	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:155575620C>T	ENST00000461783.3	+	28	5654	c.4381C>T	c.(4381-4383)Cac>Tac	p.H1461Y	TIAM2_ENST00000529824.2_Missense_Mutation_p.H1490Y|TIAM2_ENST00000275246.7_Missense_Mutation_p.H386Y|TIAM2_ENST00000528391.2_Missense_Mutation_p.H797Y|TIAM2_ENST00000318981.5_Missense_Mutation_p.H1461Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H1485Y|TIAM2_ENST00000367174.2_Missense_Mutation_p.H837Y|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000456144.1_Missense_Mutation_p.H1490Y|TIAM2_ENST00000456877.2_Missense_Mutation_p.H773Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1461	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTCAGGCGTCACATAAAGTG	0.458																																																	0													155.0	135.0	142.0					6																	155575620		2203	4300	6503	SO:0001583	missense	26230				CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.4381C>T	6.37:g.155575620C>T	ENSP00000437188:p.His1461Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.H1490Y	ENST00000461783.3	37	c.4468	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301977	0.81136	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T	0.08008	3.61;3.55;3.61;3.44;3.6;3.55;3.43;3.43;3.14	5.66	5.66	0.87406	.	0.048023	0.85682	D	0.000000	T	0.08492	0.0211	L	0.36672	1.1	0.41250	D	0.9867	P;D;D;P	0.53745	0.891;0.962;0.962;0.936	B;P;P;B	0.50352	0.405;0.638;0.638;0.435	T	0.06144	-1.0843	10	0.54805	T	0.06	.	17.934	0.89007	0.0:1.0:0.0:0.0	.	797;1490;1485;1461	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	Y	1461;1707;1490;1461;837;1485;1490;773;797;386	ENSP00000437188:H1461Y;ENSP00000407746:H1490Y;ENSP00000327315:H1461Y;ENSP00000356142:H837Y;ENSP00000353528:H1485Y;ENSP00000433348:H1490Y;ENSP00000407183:H773Y;ENSP00000435335:H797Y;ENSP00000275246:H386Y	ENSP00000275246:H386Y	H	+	1	0	TIAM2	155617312	0.998000	0.40836	0.990000	0.47175	0.995000	0.86356	3.613000	0.54152	2.673000	0.90976	0.650000	0.86243	CAC	TIAM2	-	NULL		0.458	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	HGNC	protein_coding	OTTHUMT00000387980.2	C	NM_012454		155575620	+1	no_errors	ENST00000456144	ensembl	human	known	70_37	missense	SNP	0.999	T
TIMELESS	8914	genome.wustl.edu	37	12	56817142	56817142	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:56817142G>C	ENST00000553532.1	-	18	2358	c.2208C>G	c.(2206-2208)ctC>ctG	p.L736L	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Silent_p.L735L					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTCCATTTTGAGGTCATGGG	0.507																																																	0													148.0	136.0	140.0					12																	56817142		2203	4300	6503	SO:0001819	synonymous_variant	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2208C>G	12.37:g.56817142G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_TIMELESS_C,pfam_Timeless	p.L736	ENST00000553532.1	37	c.2208	CCDS8918.1	12																																																																																			TIMELESS	-	pfam_TIMELESS_C		0.507	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56817142	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	silent	SNP	1.000	C
TJP2	9414	genome.wustl.edu	37	9	71844105	71844105	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:71844105C>G	ENST00000377245.4	+	10	1667	c.1459C>G	c.(1459-1461)Caa>Gaa	p.Q487E	TJP2_ENST00000453658.2_Missense_Mutation_p.Q464E|TJP2_ENST00000265384.7_Missense_Mutation_p.Q487E|TJP2_ENST00000535702.1_Missense_Mutation_p.Q491E|TJP2_ENST00000348208.4_Missense_Mutation_p.Q487E|TJP2_ENST00000539225.1_Missense_Mutation_p.Q518E	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	487					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TACAGCTCCTCAACCAAAAGC	0.378																																																	0													192.0	180.0	184.0					9																	71844105		2203	4300	6503	SO:0001583	missense	9414			L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1459C>G	9.37:g.71844105C>G	ENSP00000366453:p.Gln487Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens	p.Q518E	ENST00000377245.4	37	c.1552	CCDS6627.1	9	.	.	.	.	.	.	.	.	.	.	C	3.967	-0.009132	0.07727	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.07800	3.17;3.17;3.17;3.16;3.17;3.22	5.85	5.85	0.93711	.	0.315071	0.30830	N	0.008781	T	0.09024	0.0223	L	0.44542	1.39	0.38894	D	0.957174	B;B;B;B;B	0.26547	0.152;0.028;0.066;0.041;0.113	B;B;B;B;B	0.24394	0.053;0.039;0.023;0.017;0.048	T	0.11567	-1.0582	10	0.02654	T	1	.	20.1736	0.98170	0.0:1.0:0.0:0.0	.	518;491;487;487;487	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	E	464;487;487;487;491;518	ENSP00000392178:Q464E;ENSP00000366453:Q487E;ENSP00000345893:Q487E;ENSP00000265384:Q487E;ENSP00000442090:Q491E;ENSP00000438262:Q518E	ENSP00000265384:Q487E	Q	+	1	0	TJP2	71033925	0.899000	0.30636	0.998000	0.56505	0.904000	0.53231	3.075000	0.50073	2.767000	0.95098	0.557000	0.71058	CAA	TJP2	-	NULL		0.378	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP2	HGNC	protein_coding	OTTHUMT00000052572.2	C	NM_201629		71844105	+1	no_errors	ENST00000539225	ensembl	human	known	70_37	missense	SNP	1.000	G
TKTL2	84076	genome.wustl.edu	37	4	164393645	164393645	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:164393645G>A	ENST00000280605.3	-	1	1402	c.1242C>T	c.(1240-1242)atC>atT	p.I414I		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	414						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAATAAGGTTGATATTGGCTT	0.488																																																	0													41.0	43.0	43.0					4																	164393645		2203	4300	6503	SO:0001819	synonymous_variant	84076			BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.1242C>T	4.37:g.164393645G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FVB4|Q8NCT0|Q96M82	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.I414	ENST00000280605.3	37	c.1242	CCDS3805.1	4																																																																																			TKTL2	-	pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd		0.488	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL2	HGNC	protein_coding	OTTHUMT00000365207.1	G	NM_032136		164393645	-1	no_errors	ENST00000280605	ensembl	human	known	70_37	silent	SNP	1.000	A
TLE2	7089	genome.wustl.edu	37	19	3015661	3015661	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:3015661G>C	ENST00000262953.6	-	9	930	c.668C>G	c.(667-669)tCa>tGa	p.S223*	TLE2_ENST00000426948.2_Nonsense_Mutation_p.S237*|TLE2_ENST00000447365.2_De_novo_Start_OutOfFrame|TLE2_ENST00000455444.2_Nonsense_Mutation_p.S101*|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Nonsense_Mutation_p.S224*|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000591529.1_Nonsense_Mutation_p.S237*|TLE2_ENST00000443826.3_Nonsense_Mutation_p.S101*	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	223	CCN domain.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		ATAAGGTCCTGATGGCTCCTT	0.652																																																	0													55.0	63.0	61.0					19																	3015661		2118	4220	6338	SO:0001587	stop_gained	7089			M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.668C>G	19.37:g.3015661G>C	ENSP00000262953:p.Ser223*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Nonsense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S223*	ENST00000262953.6	37	c.668	CCDS45911.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482408	0.84747	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	.	.	.	4.56	3.28	0.37604	.	0.959175	0.08602	N	0.921404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.3873	10.2096	0.43132	0.1444:0.0:0.8556:0.0	.	.	.	.	X	223;101;217;101;237;131	.	ENSP00000262953:S223X	S	-	2	0	TLE2	2966661	0.011000	0.17503	0.023000	0.16930	0.088000	0.18126	1.772000	0.38552	2.261000	0.74972	0.485000	0.47835	TCA	TLE2	-	NULL		0.652	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	TLE2	HGNC	protein_coding	OTTHUMT00000452194.2	G	NM_003260		3015661	-1	no_errors	ENST00000262953	ensembl	human	known	70_37	nonsense	SNP	0.001	C
TLE4	7091	genome.wustl.edu	37	9	82323635	82323635	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:82323635C>G	ENST00000376552.2	+	13	2215	c.1197C>G	c.(1195-1197)atC>atG	p.I399M	TLE4_ENST00000376520.4_Missense_Mutation_p.I431M|TLE4_ENST00000265284.6_Missense_Mutation_p.I374M|TLE4_ENST00000376534.4_Missense_Mutation_p.I36M|TLE4_ENST00000376544.3_Missense_Mutation_p.I330M|TLE4_ENST00000376537.4_Missense_Mutation_p.I431M	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	399					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCCACAACATCTCCCCTCAGA	0.567																																																	0													39.0	44.0	42.0					9																	82323635		1997	4207	6204	SO:0001583	missense	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.1197C>G	9.37:g.82323635C>G	ENSP00000365735:p.Ile399Met	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.I431M	ENST00000376552.2	37	c.1293	CCDS43837.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.156|8.156|8.156	0.788376|0.788376|0.788376	0.16258|0.16258|0.16258	.|.|.	.|.|.	ENSG00000106829|ENSG00000106829|ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284;ENST00000490347;ENST00000467142|ENST00000496114|ENST00000417836	T;T;T;T;T;T;T;T|.|.	0.51071|.|.	0.92;0.95;1.0;1.01;0.72;1.01;1.91;1.49|.|.	6.16|6.16|6.16	4.3|4.3|4.3	0.51218|0.51218|0.51218	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.36717|0.36717|0.36717	0.0977|0.0977|0.0977	N|N|N	0.11845|0.11845|0.11845	0.185|0.185|0.185	0.47511|0.47511|0.47511	D|D|D	0.999446|0.999446|0.999446	B;B;B;B|.|.	0.20671|.|.	0.004;0.047;0.004;0.002|.|.	B;B;B;B|.|.	0.15484|.|.	0.007;0.013;0.007;0.003|.|.	T|T|T	0.11397|0.11397|0.11397	-1.0589|-1.0589|-1.0589	10|5|5	0.10377|.|.	T|.|.	0.69|.|.	-22.6703|-22.6703|-22.6703	10.4397|10.4397|10.4397	0.44457|0.44457|0.44457	0.0:0.7705:0.0:0.2295|0.0:0.7705:0.0:0.2295|0.0:0.7705:0.0:0.2295	.|.|.	374;330;431;399|.|.	F8W6T6;Q04727-2;Q04727-3;Q04727|.|.	.;.;.;TLE4_HUMAN|.|.	M|V|C	399;330;431;431;36;374;218;127|190|164	ENSP00000365735:I399M;ENSP00000365727:I330M;ENSP00000365703:I431M;ENSP00000365720:I431M;ENSP00000365717:I36M;ENSP00000265284:I374M;ENSP00000417844:I218M;ENSP00000418409:I127M|.|.	ENSP00000265284:I374M|.|.	I|L|S	+|+|+	3|1|2	3|0|0	TLE4|TLE4|TLE4	81513455|81513455|81513455	0.988000|0.988000|0.988000	0.35896|0.35896|0.35896	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	0.302000|0.302000|0.302000	0.19192|0.19192|0.19192	0.893000|0.893000|0.893000	0.36288|0.36288|0.36288	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	ATC|CTC|TCT	TLE4	-	NULL		0.567	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	C	XM_212237		82323635	+1	no_errors	ENST00000376520	ensembl	human	known	70_37	missense	SNP	1.000	G
TLE6	79816	genome.wustl.edu	37	19	2988095	2988095	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:2988095C>A	ENST00000246112.4	+	11	910	c.709C>A	c.(709-711)Cct>Act	p.P237T	TLE6_ENST00000452088.1_Missense_Mutation_p.P114T|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	237					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		GCAGGAGCCTCCTGGAAGAGC	0.617																																																	0													72.0	66.0	68.0					19																	2988095		2097	4088	6185	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.709C>A	19.37:g.2988095C>A	ENSP00000246112:p.Pro237Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KMZ1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.P237T	ENST00000246112.4	37	c.709	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	C	11.91	1.781144	0.31502	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.23348	1.91;2.1	2.68	-2.75	0.05914	.	.	.	.	.	T	0.15869	0.0382	N	0.24115	0.695	0.09310	N	1	P;P;P	0.46512	0.879;0.642;0.597	B;B;B	0.43274	0.414;0.178;0.14	T	0.18304	-1.0341	9	0.48119	T	0.1	0.6268	6.7861	0.23673	0.0:0.5265:0.2943:0.1792	.	237;114;114	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	T	237;237;114;114	ENSP00000246112:P237T;ENSP00000406893:P114T	ENSP00000246112:P237T	P	+	1	0	TLE6	2939095	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.768000	0.04715	-0.460000	0.07003	-0.502000	0.04539	CCT	TLE6	-	NULL		0.617	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3	C	NM_024760		2988095	+1	no_errors	ENST00000246112	ensembl	human	known	70_37	missense	SNP	0.003	A
TLN1	7094	genome.wustl.edu	37	9	35704813	35704813	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:35704813C>G	ENST00000314888.9	-	44	6087		c.e44-1		TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Splice_Site	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAACCTATCTGTGAGCCAA	0.527																																																	0													58.0	58.0	58.0					9																	35704813		2203	4300	6503	SO:0001630	splice_region_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5734-1G>C	9.37:g.35704813C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Splice_Site	SNP	-	e43-1	ENST00000314888.9	37	c.5734-1	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515707	0.64634	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0125	0.89229	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TLN1	35694813	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.814000	0.86154	2.250000	0.74265	0.462000	0.41574	.	TLN1	-	-		0.527	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	C	NM_006289	Intron	35704813	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	splice_site	SNP	1.000	G
TLR4	7099	genome.wustl.edu	37	9	120475262	120475262	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:120475262G>A	ENST00000355622.6	+	3	957	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E246K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	286					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|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 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)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTTGACCATTGAAGAATTCCG	0.363																																																	0													94.0	99.0	97.0					9																	120475262		2203	4300	6503	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.856G>A	9.37:g.120475262G>A	ENSP00000363089:p.Glu286Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.E286K	ENST00000355622.6	37	c.856	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	G	5.861	0.343120	0.11069	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.37752	1.51;1.18	5.78	3.0	0.34707	.	0.681719	0.14456	N	0.318478	T	0.29028	0.0721	L	0.43923	1.385	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.20042	-1.0287	10	0.44086	T	0.13	.	8.0679	0.30672	0.1876:0.1699:0.6425:0.0	.	286	O00206	TLR4_HUMAN	K	246;286	ENSP00000377997:E246K;ENSP00000363089:E286K	ENSP00000363089:E286K	E	+	1	0	TLR4	119515083	0.032000	0.19561	0.004000	0.12327	0.006000	0.05464	0.155000	0.16362	0.389000	0.25086	-0.794000	0.03295	GAA	TLR4	-	pirsf_Toll-like_receptor		0.363	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	G	NM_138554		120475262	+1	no_errors	ENST00000355622	ensembl	human	known	70_37	missense	SNP	0.020	A
TLR9	54106	genome.wustl.edu	37	3	52255789	52255789	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:52255789T>A	ENST00000360658.2	-	2	3176	c.2543A>T	c.(2542-2544)cAc>cTc	p.H848L	TLR9_ENST00000494383.1_Silent_p.P1001P|TLR9_ENST00000597542.1_Missense_Mutation_p.H872L	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	848					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CAGGCACAGGTGGAAGCAGTA	0.642																																																	0													54.0	53.0	53.0					3																	52255789		2203	4300	6503	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2543A>T	3.37:g.52255789T>A	ENSP00000353874:p.His848Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom	p.H872L	ENST00000360658.2	37	c.2615	CCDS2848.1	3	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584416	0.46110	.	.	ENSG00000239732	ENST00000360658	T	0.26810	1.71	4.97	4.97	0.65823	.	0.000000	0.39544	N	0.001333	T	0.29524	0.0736	M	0.68952	2.095	0.35554	D	0.804106	B;B	0.29085	0.084;0.232	B;B	0.28553	0.043;0.091	T	0.43605	-0.9381	10	0.87932	D	0	.	12.5789	0.56380	0.0:0.0:0.0:1.0	.	945;848	B4E0A1;Q9NR96	.;TLR9_HUMAN	L	848	ENSP00000353874:H848L	ENSP00000353874:H848L	H	-	2	0	TLR9	52230829	0.066000	0.20996	0.992000	0.48379	0.882000	0.50991	2.193000	0.42658	1.862000	0.54008	0.459000	0.35465	CAC	TLR9	-	NULL		0.642	TLR9-001	KNOWN	basic|CCDS	protein_coding	TLR9	HGNC	protein_coding	OTTHUMT00000350203.1	T			52255789	-1	no_errors	ENST00000597542	ensembl	human	known	70_37	missense	SNP	0.998	A
TM2D3	80213	genome.wustl.edu	37	15	102191956	102191956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:102191956G>A	ENST00000333202.3	-	2	117	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000561373.1_5'Flank|TM2D3_ENST00000559107.1_Nonsense_Mutation_p.Q38*|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000347970.3_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	38						integral component of membrane (GO:0016021)		p.Q38*(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATTGACTGAGCCAGCGCC	0.448																																																	1	Substitution - Nonsense(1)	lung(1)											150.0	156.0	154.0					15																	102191956		2203	4300	6503	SO:0001587	stop_gained	80213			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.112C>T	15.37:g.102191956G>A	ENSP00000330433:p.Gln38*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDK9|Q9H046|Q9H651	Nonsense_Mutation	SNP	pfam_TM2	p.Q38*	ENST00000333202.3	37	c.112	CCDS10393.1	15	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250210	0.59212	.	.	ENSG00000184277	ENST00000333202	.	.	.	4.58	3.66	0.41972	.	0.571542	0.17637	N	0.167178	.	.	.	.	.	.	0.32961	D	0.521027	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-7.1736	9.2398	0.37489	0.1036:0.0:0.8964:0.0	.	.	.	.	X	38	.	ENSP00000330433:Q38X	Q	-	1	0	TM2D3	100009479	0.706000	0.27856	0.065000	0.19835	0.419000	0.31324	1.265000	0.33027	1.248000	0.43934	-0.262000	0.10625	CAG	TM2D3	-	NULL		0.448	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	HGNC	protein_coding	OTTHUMT00000313623.1	G	NM_078474		102191956	-1	no_errors	ENST00000333202	ensembl	human	known	70_37	nonsense	SNP	0.255	A
TM4SF19	116211	genome.wustl.edu	37	3	196051385	196051385	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:196051385G>A	ENST00000273695.3	-	4	405				TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000454715.1_Intron|TM4SF19_ENST00000442633.1_Intron|TM4SF19_ENST00000446879.1_Intron|TM4SF19-AS1_ENST00000444939.1_RNA	NM_001204897.1|NM_138461.3	NP_001191826.1|NP_612470.2	Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19							integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGAAACGCTGAGCTAAGACG	0.607																																																	0																																										SO:0001627	intron_variant	100874214			BC013113	CCDS3316.1, CCDS56299.1	3q29	2005-08-09			ENSG00000145107	ENSG00000145107			25167	protein-coding gene	gene with protein product						12477932	Standard	NM_138461		Approved		uc021xjs.1	Q96DZ7	OTTHUMG00000155675	ENST00000273695.3:c.280-74C>T	3.37:g.196051385G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RV20|E9PH22|Q336K7	RNA	SNP	-	NULL	ENST00000273695.3	37	NULL	CCDS3316.1	3																																																																																			TM4SF19-AS1	-	-		0.607	TM4SF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF19-AS1	HGNC	protein_coding	OTTHUMT00000341174.1	G	NM_138461		196051385	+1	no_errors	ENST00000452051	ensembl	human	known	70_37	rna	SNP	0.000	A
TM6SF1	53346	genome.wustl.edu	37	15	83776462	83776462	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:83776462C>T	ENST00000322019.9	+	1	304	c.30C>T	c.(28-30)ttC>ttT	p.F10F	TM6SF1_ENST00000379390.6_Silent_p.F10F|TM6SF1_ENST00000379386.4_Silent_p.F10F|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.F10F			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	10						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCGGGGTCTTCGTGCTGTCCC	0.751																																																	0													27.0	26.0	26.0					15																	83776462		2200	4299	6499	SO:0001819	synonymous_variant	53346			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.30C>T	15.37:g.83776462C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7T5|H3BU56|Q4U0U5	Silent	SNP	pfam_Transmembrane_6/97	p.F10	ENST00000322019.9	37	c.30	CCDS10323.1	15																																																																																			TM6SF1	-	NULL		0.751	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	HGNC	protein_coding	OTTHUMT00000304009.1	C	NM_023003		83776462	+1	no_errors	ENST00000379386	ensembl	human	known	70_37	silent	SNP	1.000	T
TM7SF2	7108	genome.wustl.edu	37	11	64882211	64882211	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:64882211G>C	ENST00000279263.7	+	6	792	c.630G>C	c.(628-630)atG>atC	p.M210I	AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000345348.5_Missense_Mutation_p.M210I|TM7SF2_ENST00000540748.1_Missense_Mutation_p.M94I|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	210					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCTGTTGATGAAGGAGGCAG	0.607																																																	0													70.0	79.0	76.0					11																	64882211		2129	4226	6355	SO:0001583	missense	7108			BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.630G>C	11.37:g.64882211G>C	ENSP00000279263:p.Met210Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295	p.M210I	ENST00000279263.7	37	c.630	CCDS41669.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.475|6.475	0.455771|0.455771	0.12283|0.12283	.|.	.|.	ENSG00000149809|ENSG00000149809	ENST00000526809;ENST00000279263;ENST00000524986;ENST00000534371;ENST00000540748;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000529414;ENST00000526085;ENST00000527968|ENST00000528802	D;D;D;D;D;D;D;D;D;D;D|.	0.97811|.	-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55|.	5.23|5.23	-0.0244|-0.0244	0.13939|0.13939	.|.	0.600200|.	0.17889|.	N|.	0.158598|.	T|.	0.30947|.	0.0781|.	N|N	0.25144|0.25144	0.715|0.715	0.33809|0.33809	D|D	0.627622|0.627622	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.001;0.001|.	T|.	0.37150|.	-0.9718|.	10|.	0.13470|.	T|.	0.59|.	-3.6003|-3.6003	5.0829|5.0829	0.14666|0.14666	0.3124:0.0:0.5527:0.1349|0.3124:0.0:0.5527:0.1349	.|.	94;210;210|.	F5GYV3;O76062-2;O76062|.	.;.;ERG24_HUMAN|.	I|S	92;210;181;142;94;181;210;116;199;61;42|38	ENSP00000432171:M92I;ENSP00000279263:M210I;ENSP00000435972:M181I;ENSP00000432187:M142I;ENSP00000441215:M94I;ENSP00000433325:M181I;ENSP00000329520:M210I;ENSP00000431300:M116I;ENSP00000433275:M199I;ENSP00000434447:M61I;ENSP00000431685:M42I|.	ENSP00000279263:M210I|.	M|X	+|+	3|2	0|2	TM7SF2|TM7SF2	64638787|64638787	1.000000|1.000000	0.71417|0.71417	0.043000|0.043000	0.18650|0.18650	0.093000|0.093000	0.18481|0.18481	2.056000|2.056000	0.41355|0.41355	0.103000|0.103000	0.17682|0.17682	0.561000|0.561000	0.74099|0.74099	ATG|TGA	TM7SF2	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.607	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF2	HGNC	protein_coding	OTTHUMT00000385234.1	G	NM_003273		64882211	+1	no_errors	ENST00000279263	ensembl	human	known	70_37	missense	SNP	0.952	C
TMBIM4	51643	genome.wustl.edu	37	12	66547223	66547223	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:66547223G>C	ENST00000358230.3	-	2	223	c.103C>G	c.(103-105)Ctg>Gtg	p.L35V	TMBIM4_ENST00000542724.1_Intron|TMBIM4_ENST00000556010.1_Missense_Mutation_p.L35V|TMBIM4_ENST00000286424.7_Missense_Mutation_p.L82V|TMBIM4_ENST00000539652.1_Missense_Mutation_p.L35V|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000398033.4_Missense_Mutation_p.L35V	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	35					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACTTTTCTCAGAAAGGCTAAA	0.294																																																	0													59.0	55.0	57.0					12																	66547223		1800	4052	5852	SO:0001583	missense	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.103C>G	12.37:g.66547223G>C	ENSP00000350965:p.Leu35Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.L35V	ENST00000358230.3	37	c.103	CCDS41805.1	12	.	.	.	.	.	.	.	.	.	.	G	16.56	3.157407	0.57259	.	.	ENSG00000155957	ENST00000556010;ENST00000358230;ENST00000426857;ENST00000286424;ENST00000398033;ENST00000539043;ENST00000539427	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.62146	0.2404	L	0.46741	1.465	0.58432	D	0.999997	D;P;D;D	0.76494	0.999;0.815;0.999;0.989	D;B;D;P	0.68353	0.957;0.421;0.957;0.901	T	0.58239	-0.7671	9	.	.	.	-6.4258	18.0838	0.89451	0.0:0.0:1.0:0.0	.	35;82;35;35	E7EWY5;G3XAA5;E7EQ00;Q9HC24	.;.;.;TMBI4_HUMAN	V	35;35;35;82;35;35;81	ENSP00000451688:L35V;ENSP00000350965:L35V;ENSP00000286424:L82V;ENSP00000381114:L35V	.	L	-	1	2	TMBIM4	64833490	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	3.854000	0.55949	2.548000	0.85928	0.655000	0.94253	CTG	TMBIM4	-	pfam_Bax_inhibitor_1-related		0.294	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	G	NM_016056		66547223	-1	no_errors	ENST00000358230	ensembl	human	known	70_37	missense	SNP	1.000	C
TMC4	147798	genome.wustl.edu	37	19	54664722	54664722	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:54664722G>A	ENST00000376591.4	-	13	2015	c.1884C>T	c.(1882-1884)atC>atT	p.I628I	TMC4_ENST00000416963.1_Silent_p.I210I|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000301187.4_Silent_p.I622I	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	628					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTGGGCCCAGATGGACGACT	0.562																																																	0													52.0	60.0	57.0					19																	54664722		2203	4300	6503	SO:0001819	synonymous_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1884C>T	19.37:g.54664722G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.I622	ENST00000376591.4	37	c.1866	CCDS46174.1	19																																																																																			TMC4	-	NULL		0.562	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54664722	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	silent	SNP	1.000	A
TMCO6	55374	genome.wustl.edu	37	5	140023709	140023709	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:140023709C>G	ENST00000394671.3	+	10	1231	c.1130C>G	c.(1129-1131)tCc>tGc	p.S377C	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.S383C|TMCO6_ENST00000537378.1_Missense_Mutation_p.S137C	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	377					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGTACCTCCTTGCTCTCC	0.493																																																	0													260.0	252.0	254.0					5																	140023709		1981	4179	6160	SO:0001583	missense	55374			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1130C>G	5.37:g.140023709C>G	ENSP00000378166:p.Ser377Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUU0|Q9P198	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.S383C	ENST00000394671.3	37	c.1148	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104762	0.77096	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.51325	1.49;0.71;1.49	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.342073	0.27773	N	0.017914	T	0.51041	0.1651	N	0.14661	0.345	0.37190	D	0.90388	D;D	0.71674	0.998;0.998	P;P	0.61592	0.891;0.891	T	0.62029	-0.6940	10	0.87932	D	0	-9.107	17.5096	0.87756	0.0:1.0:0.0:0.0	.	383;377	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	C	377;137;383	ENSP00000378166:S377C;ENSP00000444474:S137C;ENSP00000252100:S383C	ENSP00000252100:S383C	S	+	2	0	TMCO6	140003893	0.997000	0.39634	0.988000	0.46212	0.996000	0.88848	4.995000	0.63908	2.667000	0.90743	0.462000	0.41574	TCC	TMCO6	-	superfamily_ARM-type_fold,smart_Armadillo		0.493	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	C	NM_018502		140023709	+1	no_errors	ENST00000252100	ensembl	human	known	70_37	missense	SNP	0.991	G
TMEM131	23505	genome.wustl.edu	37	2	98426211	98426211	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:98426211C>T	ENST00000186436.5	-	19	2223	c.1995G>A	c.(1993-1995)gtG>gtA	p.V665V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	665						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTACTGCAATCACAGCCTTCA	0.398																																																	0													69.0	68.0	68.0					2																	98426211		1943	4145	6088	SO:0001819	synonymous_variant	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1995G>A	2.37:g.98426211C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DUF3651_TMEM131	p.V665	ENST00000186436.5	37	c.1995	CCDS46368.1	2																																																																																			TMEM131	-	pfam_DUF3651_TMEM131		0.398	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	C	XM_371542		98426211	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	silent	SNP	0.994	T
TMEM190	147744	genome.wustl.edu	37	19	55889252	55889252	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:55889252C>G	ENST00000291934.3	+	4	321	c.303C>G	c.(301-303)ttC>ttG	p.F101L	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	101					hematopoietic progenitor cell differentiation (GO:0002244)	inner acrosomal membrane (GO:0002079)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TCTGCTTGTTCTGGCGAGTGG	0.701																																																	0													39.0	40.0	40.0					19																	55889252		2203	4298	6501	SO:0001583	missense	147744			AF442729	CCDS33113.1	19q13.42	2011-09-28				ENSG00000160472			29632	protein-coding gene	gene with protein product						21273369	Standard	NM_139172		Approved	MDAC1	uc002qkt.1	Q8WZ59		ENST00000291934.3:c.303C>G	19.37:g.55889252C>G	ENSP00000291934:p.Phe101Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJL5	Missense_Mutation	SNP	superfamily_P_trefoil	p.F101L	ENST00000291934.3	37	c.303	CCDS33113.1	19	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391805	0.62066	.	.	ENSG00000160472	ENST00000291934	.	.	.	3.31	3.31	0.37934	.	0.000000	0.43919	D	0.000519	T	0.55609	0.1931	L	0.27053	0.805	0.36202	D	0.850784	D	0.56035	0.974	D	0.67725	0.953	T	0.65668	-0.6112	9	0.87932	D	0	.	10.2689	0.43470	0.0:1.0:0.0:0.0	.	101	Q8WZ59	TM190_HUMAN	L	101	.	ENSP00000291934:F101L	F	+	3	2	TMEM190	60581064	1.000000	0.71417	0.993000	0.49108	0.463000	0.32649	1.810000	0.38932	1.869000	0.54173	0.313000	0.20887	TTC	TMEM190	-	NULL		0.701	TMEM190-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM190	HGNC	protein_coding	OTTHUMT00000453042.1	C	NM_139172		55889252	+1	no_errors	ENST00000291934	ensembl	human	known	70_37	missense	SNP	0.998	G
TMEM202	338949	genome.wustl.edu	37	15	72700113	72700113	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:72700113C>G	ENST00000341689.3	+	5	755	c.701C>G	c.(700-702)tCa>tGa	p.S234*	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	234						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						ACAGAGAGATCAAGGCTGGGG	0.458																																																	0													89.0	85.0	86.0					15																	72700113		2199	4297	6496	SO:0001587	stop_gained	338949				CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.701C>G	15.37:g.72700113C>G	ENSP00000340212:p.Ser234*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.S234*	ENST00000341689.3	37	c.701	CCDS32287.1	15	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818168	0.32145	.	.	ENSG00000187806	ENST00000341689	.	.	.	4.31	3.38	0.38709	.	0.787227	0.10836	N	0.628812	.	.	.	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	0.0297	9.7872	0.40684	0.2045:0.7955:0.0:0.0	.	.	.	.	X	234	.	ENSP00000340212:S234X	S	+	2	0	TMEM202	70487167	0.219000	0.23619	0.401000	0.26359	0.181000	0.23173	1.570000	0.36439	1.132000	0.42129	0.561000	0.74099	TCA	TMEM202	-	NULL		0.458	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TMEM202	HGNC	protein_coding	OTTHUMT00000435756.1	C	NM_001080462		72700113	+1	no_errors	ENST00000341689	ensembl	human	known	70_37	nonsense	SNP	0.210	G
TMX4	56255	genome.wustl.edu	37	20	7963053	7963053	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:7963053G>A	ENST00000246024.2	-	8	1110	c.895C>T	c.(895-897)Cag>Tag	p.Q299*		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	299	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GGGGGCCCCTGATCATTGGCC	0.567																																																	0													156.0	132.0	140.0					20																	7963053		2203	4300	6503	SO:0001587	stop_gained	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.895C>T	20.37:g.7963053G>A	ENSP00000246024:p.Gln299*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Nonsense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.Q299*	ENST00000246024.2	37	c.895	CCDS13101.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.126110	0.97305	.	.	ENSG00000125827	ENST00000246024	.	.	.	5.01	5.01	0.66863	.	0.782162	0.11575	N	0.550393	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.4331	14.0058	0.64463	0.0:0.0:1.0:0.0	.	.	.	.	X	299	.	ENSP00000246024:Q299X	Q	-	1	0	TMX4	7911053	0.067000	0.21026	0.012000	0.15200	0.435000	0.31806	2.290000	0.43531	2.763000	0.94921	0.557000	0.71058	CAG	TMX4	-	NULL		0.567	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TMX4	HGNC	protein_coding	OTTHUMT00000077928.2	G	NM_021156		7963053	-1	no_errors	ENST00000246024	ensembl	human	known	70_37	nonsense	SNP	0.073	A
TMX4	56255	genome.wustl.edu	37	20	7982144	7982144	+	Splice_Site	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:7982144G>A	ENST00000246024.2	-	3	552	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	113	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TAAACTTACTGAAAAAATGCT	0.358																																																	0													50.0	50.0	50.0					20																	7982144		2203	4300	6503	SO:0001630	splice_region_variant	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.338+1C>T	20.37:g.7982144G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.H113Y	ENST00000246024.2	37	c.337	CCDS13101.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103968	0.76983	.	.	ENSG00000125827	ENST00000246024	T	0.15952	2.38	4.95	4.95	0.65309	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.306075	0.31210	N	0.008049	T	0.35307	0.0927	M	0.69358	2.11	0.80722	D	1	P	0.48407	0.91	P	0.60473	0.875	T	0.06445	-1.0826	10	0.11182	T	0.66	-15.5953	17.3457	0.87309	0.0:0.0:1.0:0.0	.	113	Q9H1E5	TMX4_HUMAN	Y	113	ENSP00000246024:H113Y	ENSP00000246024:H113Y	H	-	1	0	TMX4	7930144	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.651000	0.74372	2.466000	0.83321	0.455000	0.32223	CAT	TMX4	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.358	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TMX4	HGNC	protein_coding	OTTHUMT00000077928.2	G	NM_021156	Missense_Mutation	7982144	-1	no_errors	ENST00000246024	ensembl	human	known	70_37	missense	SNP	1.000	A
TNFRSF1A	7132	genome.wustl.edu	37	12	6440006	6440006	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:6440006C>T	ENST00000162749.2	-	6	925				TNFRSF1A_ENST00000437813.3_5'Flank|TNFRSF1A_ENST00000540022.1_Intron	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCACCAGGTCACTTCTCCTC	0.577																																																	0													96.0	79.0	85.0					12																	6440006		2203	4300	6503	SO:0001627	intron_variant	7132			M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.625+12G>A	12.37:g.6440006C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	RNA	SNP	-	NULL	ENST00000162749.2	37	NULL	CCDS8542.1	12																																																																																			TNFRSF1A	-	-		0.577	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	HGNC	protein_coding	OTTHUMT00000399038.1	C	NM_001065		6440006	-1	no_errors	ENST00000535038	ensembl	human	putative	70_37	rna	SNP	0.000	T
TOE1	114034	genome.wustl.edu	37	1	45805812	45805812	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:45805812C>T	ENST00000372090.5	+	0	471				MUTYH_ENST00000372110.3_Intron|MUTYH_ENST00000372098.3_Intron|MUTYH_ENST00000456914.2_5'Flank|TOE1_ENST00000539779.1_5'UTR|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000531105.1_5'UTR|MUTYH_ENST00000372115.3_Intron|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000450313.1_Intron|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000355498.2_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)							nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TTCGACCCATCGGCGACCCGA	0.706																																																	0																																										SO:0001623	5_prime_UTR_variant	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.-113C>T	1.37:g.45805812C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEM6|Q6IA35|Q8IWN5|Q9H846	RNA	SNP	-	NULL	ENST00000372090.5	37	NULL	CCDS521.1	1																																																																																			TOE1	-	-		0.706	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	HGNC	protein_coding	OTTHUMT00000020517.1	C	NM_025077		45805812	+1	no_errors	ENST00000477731	ensembl	human	known	70_37	rna	SNP	0.000	T
TNN	63923	genome.wustl.edu	37	1	175066664	175066664	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:175066664C>G	ENST00000239462.4	+	8	1813	c.1700C>G	c.(1699-1701)tCt>tGt	p.S567C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	567	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCTGACGAC	0.592																																																	0													84.0	71.0	75.0					1																	175066664		2203	4300	6503	SO:0001583	missense	63923			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1700C>G	1.37:g.175066664C>G	ENSP00000239462:p.Ser567Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.S567C	ENST00000239462.4	37	c.1700	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490416	0.64074	.	.	ENSG00000120332	ENST00000239462	T	0.58797	0.31	5.63	5.63	0.86233	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.205916	0.35903	N	0.002916	D	0.82751	0.5105	M	0.93898	3.47	0.47374	D	0.999407	D	0.71674	0.998	D	0.72075	0.976	D	0.86353	0.1712	10	0.59425	D	0.04	.	19.2771	0.94036	0.0:1.0:0.0:0.0	.	567	Q9UQP3	TENN_HUMAN	C	567	ENSP00000239462:S567C	ENSP00000239462:S567C	S	+	2	0	TNN	173333287	0.969000	0.33509	0.857000	0.33713	0.203000	0.24098	5.150000	0.64869	2.630000	0.89119	0.655000	0.94253	TCT	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	C	XM_040527		175066664	+1	no_errors	ENST00000239462	ensembl	human	known	70_37	missense	SNP	1.000	G
TOM1L1	10040	genome.wustl.edu	37	17	53007533	53007533	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:53007533G>A	ENST00000575882.1	+	8	1173	c.820G>A	c.(820-822)Gag>Aag	p.E274K	TOM1L1_ENST00000575333.1_Missense_Mutation_p.E274K|TOM1L1_ENST00000348161.4_Missense_Mutation_p.E197K|TOM1L1_ENST00000570371.1_Missense_Mutation_p.E274K|TOM1L1_ENST00000540336.1_Missense_Mutation_p.E162K|TOM1L1_ENST00000536554.1_Missense_Mutation_p.E197K|TOM1L1_ENST00000445275.2_Missense_Mutation_p.E274K|TOM1L1_ENST00000572158.1_Missense_Mutation_p.E267K	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	274	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCAGGTGAATGAGGATTTGAA	0.438																																																	0													269.0	223.0	238.0					17																	53007533		2203	4300	6503	SO:0001583	missense	10040			AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.820G>A	17.37:g.53007533G>A	ENSP00000460823:p.Glu274Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G06|Q8N749	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS	p.E274K	ENST00000575882.1	37	c.820	CCDS11582.1	17	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772973	0.90108	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.07	5.07	0.68467	GAT (2);	0.076216	0.53938	D	0.000048	T	0.61974	0.2390	L	0.47716	1.5	0.46260	D	0.998955	D;D;D;D;D	0.71674	0.992;0.998;0.994;0.998;0.996	P;D;D;D;D	0.70487	0.893;0.969;0.943;0.969;0.926	T	0.64253	-0.6451	10	0.87932	D	0	-16.8717	15.9954	0.80234	0.0:0.0:1.0:0.0	.	162;267;197;274;274	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749	.;.;.;TM1L1_HUMAN;.	K	274;162;197;197	ENSP00000408958:E274K;ENSP00000441242:E162K;ENSP00000343901:E197K;ENSP00000443099:E197K	ENSP00000343901:E197K	E	+	1	0	TOM1L1	50362532	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.158000	0.71851	2.622000	0.88805	0.563000	0.77884	GAG	TOM1L1	-	pfam_GAT,pirsf_TOM1,pfscan_GAT		0.438	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TOM1L1	HGNC	protein_coding	OTTHUMT00000439029.2	G	NM_005486		53007533	+1	no_errors	ENST00000575882	ensembl	human	known	70_37	missense	SNP	1.000	A
TOMM34	10953	genome.wustl.edu	37	20	43577512	43577512	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:43577512G>C	ENST00000372813.3	-	5	709	c.557C>G	c.(556-558)tCt>tGt	p.S186C	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	186					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				ATCCCCAGCAGAAGGCACTAG	0.448																																																	0													109.0	92.0	98.0					20																	43577512		2203	4300	6503	SO:0001583	missense	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.557C>G	20.37:g.43577512G>C	ENSP00000361900:p.Ser186Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S186C	ENST00000372813.3	37	c.557	CCDS13340.1	20	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869661	0.72065	.	.	ENSG00000025772	ENST00000372813	T	0.79845	-1.31	5.55	5.55	0.83447	.	0.790664	0.11530	N	0.554766	D	0.83585	0.5286	L	0.56199	1.76	0.41605	D	0.988878	D	0.63880	0.993	P	0.49999	0.628	T	0.81959	-0.0694	10	0.46703	T	0.11	-24.9847	17.4437	0.87573	0.0:0.0:1.0:0.0	.	186	Q15785	TOM34_HUMAN	C	186	ENSP00000361900:S186C	ENSP00000361900:S186C	S	-	2	0	TOMM34	43010926	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.350000	0.52224	2.890000	0.99128	0.585000	0.79938	TCT	TOMM34	-	NULL		0.448	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	G	NM_006809		43577512	-1	no_errors	ENST00000372813	ensembl	human	known	70_37	missense	SNP	1.000	C
TOPBP1	11073	genome.wustl.edu	37	3	133342989	133342989	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:133342989G>T	ENST00000260810.5	-	17	2966	c.2835C>A	c.(2833-2835)ttC>ttA	p.F945L		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	945	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CTTGATAGATGAAATGAGTCA	0.353								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)												0													129.0	120.0	123.0					3																	133342989		1848	4093	5941	SO:0001583	missense	11073			AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2835C>A	3.37:g.133342989G>T	ENSP00000260810:p.Phe945Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7W8|Q7LGC1|Q9UEB9	Missense_Mutation	SNP	pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom	p.F945L	ENST00000260810.5	37	c.2835	CCDS46919.1	3	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011743	0.75046	.	.	ENSG00000163781	ENST00000260810	T	0.31510	1.49	5.45	3.67	0.42095	BRCT (4);	0.097300	0.64402	D	0.000001	T	0.18551	0.0445	N	0.25957	0.775	0.43058	D	0.994676	B	0.30889	0.299	B	0.34722	0.188	T	0.04693	-1.0933	10	0.05721	T	0.95	.	9.2133	0.37331	0.2207:0.0:0.7793:0.0	.	945	Q92547	TOPB1_HUMAN	L	945	ENSP00000260810:F945L	ENSP00000260810:F945L	F	-	3	2	TOPBP1	134825679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.736000	0.55052	0.675000	0.31264	0.585000	0.79938	TTC	TOPBP1	-	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom		0.353	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPBP1	HGNC	protein_coding	OTTHUMT00000357254.1	G	NM_007027		133342989	-1	no_errors	ENST00000260810	ensembl	human	known	70_37	missense	SNP	1.000	T
TOX2	84969	genome.wustl.edu	37	20	42683061	42683061	+	Missense_Mutation	SNP	A	A	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:42683061A>T	ENST00000358131.5	+	5	1009	c.801A>T	c.(799-801)agA>agT	p.R267S	TOX2_ENST00000423191.2_Missense_Mutation_p.R216S|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.R258S|TOX2_ENST00000372999.1_Missense_Mutation_p.R216S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	267					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCTTCAGAGACACTCAGG	0.562																																																	0													69.0	62.0	65.0					20																	42683061		2203	4300	6503	SO:0001583	missense	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.801A>T	20.37:g.42683061A>T	ENSP00000350849:p.Arg267Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R258S	ENST00000358131.5	37	c.774	CCDS42875.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.157074|4.157074	0.78114|0.78114	.|.	.|.	ENSG00000124191|ENSG00000124191	ENST00000372992;ENST00000413823|ENST00000341197;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	.|D;D;D;D;D	.|0.97791	.|-4.54;-4.54;-4.54;-4.54;-4.54	5.44|5.44	1.54|1.54	0.23209|0.23209	.|High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96812|0.96812	0.8959|0.8959	L|L	0.31420|0.31420	0.93|0.93	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|0.997;0.996;0.991;1.0;0.997	.|D;D;D;D;D	.|0.87578	.|0.967;0.974;0.991;0.998;0.985	D|D	0.94733|0.94733	0.7911|0.7911	6|10	0.87932|0.45353	D|T	0|0.12	.|.	9.4329|9.4329	0.38622|0.38622	0.7552:0.0:0.2448:0.0|0.7552:0.0:0.2448:0.0	.|.	.|136;258;216;267;216	.|B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.|.;.;.;TOX2_HUMAN;.	V|S	24|258;216;216;267;136	.|ENSP00000344724:R258S;ENSP00000390278:R216S;ENSP00000362090:R216S;ENSP00000350849:R267S;ENSP00000396777:R136S	ENSP00000362083:E24V|ENSP00000344724:R258S	E|R	+|+	2|3	0|2	TOX2|TOX2	42116475|42116475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.872000|1.872000	0.39549|0.39549	0.390000|0.390000	0.25115|0.25115	0.528000|0.528000	0.53228|0.53228	GAG|AGA	TOX2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.562	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	A			42683061	+1	no_errors	ENST00000341197	ensembl	human	known	70_37	missense	SNP	0.997	T
TOX4	9878	genome.wustl.edu	37	14	21961402	21961402	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:21961402G>C	ENST00000405508.1	+	8	1903	c.1627G>C	c.(1627-1629)Gat>Cat	p.D543H	TOX4_ENST00000448790.2_Missense_Mutation_p.D520H|TOX4_ENST00000262709.3_Missense_Mutation_p.D543H			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	543						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GATGATCACAGATGTAGTTCC	0.448																																																	0													66.0	65.0	65.0					14																	21961402		2203	4300	6503	SO:0001583	missense	9878			AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1627G>C	14.37:g.21961402G>C	ENSP00000385102:p.Asp543His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D543H	ENST00000405508.1	37	c.1627	CCDS32043.1	14	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524636	0.64747	.	.	ENSG00000092203	ENST00000405508;ENST00000262709;ENST00000448790;ENST00000545559	T;T;T	0.12774	2.65;2.65;2.66	4.99	4.99	0.66335	.	0.311995	0.33401	N	0.004950	T	0.20618	0.0496	N	0.22421	0.69	0.49483	D	0.999795	P;P	0.52061	0.95;0.95	P;P	0.55615	0.78;0.78	T	0.01102	-1.1451	10	0.87932	D	0	.	17.5446	0.87857	0.0:0.0:1.0:0.0	.	520;543	B4DPY8;O94842	.;TOX4_HUMAN	H	543;543;520;471	ENSP00000385102:D543H;ENSP00000262709:D543H;ENSP00000393080:D520H	ENSP00000262709:D543H	D	+	1	0	TOX4	21031242	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.414000	0.73318	2.750000	0.94351	0.455000	0.32223	GAT	TOX4	-	NULL		0.448	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOX4	HGNC	protein_coding	OTTHUMT00000317287.2	G	NM_014828		21961402	+1	no_errors	ENST00000262709	ensembl	human	known	70_37	missense	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577065	7577065	+	Silent	SNP	C	C	T	rs372613518		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7577065C>T	ENST00000269305.4	-	8	1062	c.873G>A	c.(871-873)aaG>aaA	p.K291K	TP53_ENST00000455263.2_Silent_p.K291K|TP53_ENST00000420246.2_Silent_p.K291K|TP53_ENST00000359597.4_Silent_p.K291K|TP53_ENST00000445888.2_Silent_p.K291K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	291	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K291fs*48(8)|p.0?(8)|p.K291N(3)|p.?(2)|p.R290fs*53(2)|p.K291K(2)|p.T284_G293del10(1)|p.E294fs*51(1)|p.L265_K305del41(1)|p.R290fs*12(1)|p.R290fs*50(1)|p.K291fs*12(1)|p.R290_P295>X(1)|p.E285fs*13(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTCCCCTTTCTTGCGGAGAT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	34	Deletion - Frameshift(15)|Whole gene deletion(8)|Deletion - In frame(3)|Substitution - Missense(3)|Unknown(2)|Substitution - coding silent(2)|Complex - deletion inframe(1)	upper_aerodigestive_tract(11)|urinary_tract(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|salivary_gland(1)|stomach(1)|endometrium(1)|oesophagus(1)|ovary(1)|pancreas(1)											103.0	89.0	94.0					17																	7577065		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.873G>A	17.37:g.7577065C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.K291	ENST00000269305.4	37	c.873	CCDS11118.1	17																																																																																			TP53	-	NULL		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577065	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	silent	SNP	0.998	T
TP53	7157	genome.wustl.edu	37	17	7577077	7577077	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7577077C>T	ENST00000269305.4	-	8	1050	c.861G>A	c.(859-861)gaG>gaA	p.E287E	TP53_ENST00000455263.2_Silent_p.E287E|TP53_ENST00000420246.2_Silent_p.E287E|TP53_ENST00000359597.4_Silent_p.E287E|TP53_ENST00000445888.2_Silent_p.E287E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.?(2)|p.E286fs*17(2)|p.E287D(2)|p.R283fs*16(2)|p.N288fs*18(1)|p.L265_K305del41(1)|p.N288fs*15(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCGGAGATTCTCTTCCTCTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	49	Deletion - Frameshift(25)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - coding silent(5)|Unknown(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(20)|large_intestine(4)|urinary_tract(4)|breast(4)|bone(4)|liver(4)|stomach(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(1)|lung(1)											99.0	85.0	89.0					17																	7577077		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.861G>A	17.37:g.7577077C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E287	ENST00000269305.4	37	c.861	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577077	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	silent	SNP	0.910	T
TP53	7157	genome.wustl.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	GRCh37	CM995136	TP53	M	rs112431538						91.0	78.0	82.0					17																	7577085		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E285K	ENST00000269305.4	37	c.853	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577085	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	0.995	T
TPM4	7171	genome.wustl.edu	37	19	16192822	16192822	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:16192822G>A	ENST00000300933.4	+	2	492	c.232G>A	c.(232-234)Gag>Aag	p.E78K	TPM4_ENST00000344824.6_Missense_Mutation_p.E114K|TPM4_ENST00000538887.1_Missense_Mutation_p.E114K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	78					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|osteoblast differentiation (GO:0001649)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|membrane (GO:0016020)|muscle thin filament tropomyosin (GO:0005862)|podosome (GO:0002102)|stress fiber (GO:0001725)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GCAGAAGCTGGAGGAGGCAGA	0.567			T	ALK	ALCL																																			Dom	yes		19	19p13.1	7171	tropomyosin 4		L	0													60.0	52.0	55.0					19																	16192822		2203	4300	6503	SO:0001583	missense	7171				CCDS12338.1, CCDS46007.1	19p13.1	2013-03-11			ENSG00000167460	ENSG00000167460		"""Tropomyosins"""	12013	protein-coding gene	gene with protein product		600317				8641132	Standard	NM_003290		Approved		uc002ndi.2	P67936	OTTHUMG00000182134	ENST00000300933.4:c.232G>A	19.37:g.16192822G>A	ENSP00000300933:p.Glu78Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P07226|Q15659|Q5U0D9|Q9BU85|Q9H8Q3|Q9UCS1|Q9UCS2|Q9UCS3|Q9UCS4	Missense_Mutation	SNP	pfam_Tropomyosin,prints_Tropomyosin	p.E114K	ENST00000300933.4	37	c.340	CCDS12338.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.639493	0.96693	.	.	ENSG00000167460	ENST00000344824;ENST00000538887;ENST00000300933	T;T;T	0.79653	-1.29;-1.29;-1.29	4.59	4.59	0.56863	.	0.247748	0.24912	U	0.034612	D	0.93291	0.7862	H	0.97783	4.075	0.80722	D	1	D;B	0.59767	0.986;0.359	D;P	0.66196	0.942;0.795	D	0.95914	0.8925	10	0.87932	D	0	-0.6103	16.822	0.85748	0.0:0.0:1.0:0.0	.	78;114	P67936;P67936-2	TPM4_HUMAN;.	K	114;114;78	ENSP00000345230:E114K;ENSP00000439135:E114K;ENSP00000300933:E78K	ENSP00000300933:E78K	E	+	1	0	TPM4	16053822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.484000	0.97940	2.261000	0.74972	0.585000	0.79938	GAG	TPM4	-	pfam_Tropomyosin		0.567	TPM4-002	KNOWN	basic|CCDS	protein_coding	TPM4	HGNC	protein_coding	OTTHUMT00000459673.2	G	NM_003290		16192822	+1	no_errors	ENST00000344824	ensembl	human	known	70_37	missense	SNP	1.000	A
TPM3P9	147804	genome.wustl.edu	37	19	53945480	53945480	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:53945480G>A	ENST00000424846.3	+	0	477				ZNF761_ENST00000454407.1_RNA	NR_003148.3				tropomyosin 3 pseudogene 9																		AGATGAGGCAGATGGGAAGTA	0.463																																																	0																																												147804					19q13.42	2012-07-04			ENSG00000241015	ENSG00000241015			44142	pseudogene	pseudogene							Standard	NR_003148		Approved				OTTHUMG00000157312		19.37:g.53945480G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424846.3	37	NULL		19																																																																																			TPM3P9	-	-		0.463	TPM3P9-002	KNOWN	basic	processed_transcript	TPM3P9	HGNC	pseudogene	OTTHUMT00000347070.1	G	NR_003148		53945480	+1	no_errors	ENST00000424846	ensembl	human	known	70_37	rna	SNP	1.000	A
TPSAB1	7177	genome.wustl.edu	37	16	1292188	1292188	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1292188C>G	ENST00000338844.3	+	6	808	c.775C>G	c.(775-777)Cgt>Ggt	p.R259G	TPSAB1_ENST00000461509.2_Missense_Mutation_p.R266G	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	259	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CATCTACACCCGTGTCACCTA	0.647																																																	0													87.0	80.0	82.0					16																	1292188		2199	4296	6495	SO:0001583	missense	7177			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.775C>G	16.37:g.1292188C>G	ENSP00000343577:p.Arg259Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R259G	ENST00000338844.3	37	c.775	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072544	0.20147	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	D;D	0.84298	-1.83;-1.83	2.84	-0.747	0.11091	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.40302	N	0.001122	D	0.90126	0.6915	M	0.89785	3.06	0.41180	D	0.986229	D;D	0.76494	0.999;0.999	P;D	0.63793	0.866;0.918	D	0.86340	0.1704	10	0.72032	D	0.01	.	4.6875	0.12764	0.373:0.5103:0.0:0.1167	.	250;259	Q15661-2;Q15661	.;TRYB1_HUMAN	G	259;266	ENSP00000343577:R259G;ENSP00000418247:R266G	ENSP00000343577:R259G	R	+	1	0	TPSAB1	1232189	0.000000	0.05858	0.135000	0.22099	0.006000	0.05464	-0.279000	0.08479	-0.214000	0.10078	0.184000	0.17185	CGT	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.647	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	C	NM_003294		1292188	+1	no_errors	ENST00000562675	ensembl	human	known	70_37	missense	SNP	0.783	G
TRAFD1	10906	genome.wustl.edu	37	12	112578867	112578867	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:112578867G>A	ENST00000257604.5	+	5	1099	c.482G>A	c.(481-483)gGa>gAa	p.G161E	TRAFD1_ENST00000412615.2_Missense_Mutation_p.G161E	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	161					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GGTCAGGATGGAATCTGGATT	0.507																																																	0													91.0	78.0	83.0					12																	112578867		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.482G>A	12.37:g.112578867G>A	ENSP00000257604:p.Gly161Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.G161E	ENST00000257604.5	37	c.482	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706620	0.48412	.	.	ENSG00000135148	ENST00000412615;ENST00000257604;ENST00000552896	T;T;T	0.02974	4.09;4.09;4.09	5.92	4.1	0.47936	.	0.475212	0.22997	N	0.053136	T	0.02688	0.0081	L	0.34521	1.04	0.30765	N	0.743677	B;P	0.40211	0.103;0.707	B;B	0.37888	0.067;0.26	T	0.34304	-0.9834	10	0.22706	T	0.39	-5.2532	9.7125	0.40254	0.1611:0.0:0.8389:0.0	.	161;161	F8VNX8;O14545	.;TRAD1_HUMAN	E	161	ENSP00000396526:G161E;ENSP00000257604:G161E;ENSP00000450357:G161E	ENSP00000257604:G161E	G	+	2	0	TRAFD1	111063250	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	2.172000	0.42463	1.514000	0.48869	0.563000	0.77884	GGA	TRAFD1	-	NULL		0.507	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	G	NM_006700		112578867	+1	no_errors	ENST00000257604	ensembl	human	known	70_37	missense	SNP	0.973	A
TRAFD1	10906	genome.wustl.edu	37	12	112589766	112589766	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:112589766C>G	ENST00000257604.5	+	10	2058	c.1441C>G	c.(1441-1443)Cct>Gct	p.P481A	TRAFD1_ENST00000412615.2_Missense_Mutation_p.P481A|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	481					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GCCCAGCTCTCCTTGTGTGCC	0.572																																																	0													137.0	147.0	144.0					12																	112589766		2203	4300	6503	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1441C>G	12.37:g.112589766C>G	ENSP00000257604:p.Pro481Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5L6|B4DI89	Missense_Mutation	SNP	superfamily_TRAF-like	p.P481A	ENST00000257604.5	37	c.1441	CCDS9160.1	12	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538314	0.27475	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.36157	1.27;1.27	6.02	2.0	0.26442	.	0.739449	0.12933	N	0.427243	T	0.32436	0.0829	M	0.72118	2.19	0.35662	D	0.812618	P	0.37207	0.587	B	0.33454	0.164	T	0.35847	-0.9772	10	0.72032	D	0.01	-2.1863	4.8753	0.13653	0.0:0.5805:0.153:0.2665	.	481	O14545	TRAD1_HUMAN	A	481	ENSP00000396526:P481A;ENSP00000257604:P481A	ENSP00000257604:P481A	P	+	1	0	TRAFD1	111074149	0.769000	0.28531	0.641000	0.29422	0.207000	0.24258	0.173000	0.16724	0.086000	0.17137	0.650000	0.86243	CCT	TRAFD1	-	NULL		0.572	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAFD1	HGNC	protein_coding	OTTHUMT00000405214.1	C	NM_006700		112589766	+1	no_errors	ENST00000257604	ensembl	human	known	70_37	missense	SNP	0.886	G
TRAIP	10293	genome.wustl.edu	37	3	49866880	49866880	+	Intron	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:49866880G>C	ENST00000331456.2	-	14	1401				TRAIP_ENST00000469027.1_Missense_Mutation_p.S278C	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AACATCACAGGAAAAGGATAC	0.567																																																	0													62.0	64.0	63.0					3																	49866880		2203	4300	6503	SO:0001627	intron_variant	10293			BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1287+10C>G	3.37:g.49866880G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S278C	ENST00000331456.2	37	c.833	CCDS2806.1	3	.	.	.	.	.	.	.	.	.	.	g	8.535	0.871960	0.17322	.	.	ENSG00000183763	ENST00000469027	T	0.46819	0.86	5.04	1.33	0.21861	.	.	.	.	.	T	0.46718	0.1407	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.42632	-0.9440	6	0.72032	D	0.01	.	7.6794	0.28505	0.7452:0.0:0.2548:0.0	.	.	.	.	C	278	ENSP00000420085:S278C	ENSP00000420085:S278C	S	-	2	0	TRAIP	49841884	0.988000	0.35896	0.896000	0.35187	0.190000	0.23558	0.791000	0.26915	0.406000	0.25560	-0.285000	0.09966	TCC	TRAIP	-	NULL		0.567	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAIP	HGNC	protein_coding	OTTHUMT00000350518.1	G	NM_005879		49866880	-1	no_errors	ENST00000469027	ensembl	human	novel	70_37	missense	SNP	0.201	C
TRAK2	66008	genome.wustl.edu	37	2	202264129	202264129	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:202264129C>G	ENST00000332624.3	-	5	879	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	TRAK2_ENST00000430254.1_Missense_Mutation_p.E151Q	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	151	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATTGCTCCTCCAGGGATTCG	0.403																																																	0													101.0	95.0	97.0					2																	202264129		2203	4299	6502	SO:0001583	missense	66008			AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.451G>C	2.37:g.202264129C>G	ENSP00000328875:p.Glu151Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.E151Q	ENST00000332624.3	37	c.451	CCDS2347.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.096755	0.94197	.	.	ENSG00000115993	ENST00000332624;ENST00000542292;ENST00000430254	T;T	0.25912	1.77;1.77	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.60475	-0.7256	10	0.72032	D	0.01	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	151;151	E7EV21;O60296	.;TRAK2_HUMAN	Q	151;57;151	ENSP00000328875:E151Q;ENSP00000409333:E151Q	ENSP00000328875:E151Q	E	-	1	0	TRAK2	201972374	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	7.043000	0.76572	2.826000	0.97356	0.655000	0.94253	GAG	TRAK2	-	pfam_HAP1_N		0.403	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAK2	HGNC	protein_coding	OTTHUMT00000256284.3	C	NM_015049		202264129	-1	no_errors	ENST00000332624	ensembl	human	known	70_37	missense	SNP	1.000	G
TRAP1	10131	genome.wustl.edu	37	16	3715983	3715983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3715983G>A	ENST00000246957.5	-	12	1460	c.1372C>T	c.(1372-1374)Cag>Tag	p.Q458*	TRAP1_ENST00000573872.1_5'Flank|TRAP1_ENST00000538171.1_Nonsense_Mutation_p.Q405*|TRAP1_ENST00000575671.1_Nonsense_Mutation_p.Q249*	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	458					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TTGACCTCCTGCTCGGTGGCG	0.527																																																	0													90.0	85.0	86.0					16																	3715983		2197	4300	6497	SO:0001587	stop_gained	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1372C>T	16.37:g.3715983G>A	ENSP00000246957:p.Gln458*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Nonsense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.Q458*	ENST00000246957.5	37	c.1372	CCDS10508.1	16	.	.	.	.	.	.	.	.	.	.	G	41	8.770344	0.98948	.	.	ENSG00000126602	ENST00000246957;ENST00000538171	.	.	.	5.78	5.78	0.91487	.	0.121727	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-39.4235	18.9999	0.92829	0.0:0.0:1.0:0.0	.	.	.	.	X	458;405	.	ENSP00000246957:Q458X	Q	-	1	0	TRAP1	3655984	1.000000	0.71417	0.980000	0.43619	0.333000	0.28666	9.180000	0.94867	2.744000	0.94065	0.563000	0.77884	CAG	TRAP1	-	pfam_Hsp90,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90		0.527	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAP1	HGNC	protein_coding	OTTHUMT00000251586.2	G	NM_016292		3715983	-1	no_errors	ENST00000246957	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRAPPC5	126003	genome.wustl.edu	37	19	7747467	7747467	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:7747467G>A	ENST00000317378.5	+	2	515	c.328G>A	c.(328-330)Gat>Aat	p.D110N	TRAPPC5_ENST00000595985.1_Missense_Mutation_p.D43N|TRAPPC5_ENST00000596148.1_Missense_Mutation_p.D110N|TRAPPC5_ENST00000426877.2_Missense_Mutation_p.D110N|CTD-3214H19.16_ENST00000597959.1_3'UTR	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	110					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				NS(1)|lung(2)	3						GCAGGCCAACGATGACGCGCG	0.627																																																	0													37.0	41.0	40.0					19																	7747467		2193	4282	6475	SO:0001583	missense	126003			BC042161	CCDS42490.1	19p13.3	2011-10-10				ENSG00000181029		"""Trafficking protein particle complex"""	23067	protein-coding gene	gene with protein product							Standard	NM_001042462		Approved	MGC52424, TRS31	uc002mhj.2	Q8IUR0		ENST00000317378.5:c.328G>A	19.37:g.7747467G>A	ENSP00000316990:p.Asp110Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7I6	Missense_Mutation	SNP	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31	p.D110N	ENST00000317378.5	37	c.328	CCDS42490.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.223625	0.95139	.	.	ENSG00000181029	ENST00000317378;ENST00000426877	T;T	0.38401	1.14;1.14	4.1	4.1	0.47936	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	U	0.000000	T	0.62024	0.2394	M	0.88979	2.995	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.71407	-0.4602	10	0.66056	D	0.02	-15.3769	13.8598	0.63552	0.0:0.0:1.0:0.0	.	110	Q8IUR0	TPPC5_HUMAN	N	110	ENSP00000316990:D110N;ENSP00000399025:D110N	ENSP00000316990:D110N	D	+	1	0	TRAPPC5	7653467	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.231000	0.95317	1.846000	0.53633	0.485000	0.47835	GAT	TRAPPC5	-	pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP-I_Trs31		0.627	TRAPPC5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC5	HGNC	protein_coding	OTTHUMT00000461252.1	G	XM_058961		7747467	+1	no_errors	ENST00000317378	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIL	9865	genome.wustl.edu	37	7	28993035	28993035	+	RNA	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:28993035C>G	ENST00000322982.3	-	0	4899							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of cytokine production involved in immune response (GO:0002718)|toll-like receptor 4 signaling pathway (GO:0034142)	lipopolysaccharide receptor complex (GO:0046696)	lipopolysaccharide binding (GO:0001530)										ATTTATTCATCTCCCACTGAA	0.353																																																	0																																												9865				CCDS75573.1	7p14.3	2012-07-13			ENSG00000176734	ENSG00000255690			22200	protein-coding gene	gene with protein product		613356				19710467	Standard	NM_014817		Approved	KIAA0644	uc003szt.3	Q7L0X0	OTTHUMG00000152829		7.37:g.28993035C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1A6|O75139	RNA	SNP	-	NULL	ENST00000322982.3	37	NULL		7																																																																																			TRIL	-	-		0.353	TRIL-001	KNOWN	basic	processed_transcript	TRIL	HGNC	processed_transcript	OTTHUMT00000328187.2	C	NM_014817		28993035	-1	no_errors	ENST00000322982	ensembl	human	known	70_37	rna	SNP	0.736	G
TRIL	9865	genome.wustl.edu	37	7	28993116	28993116	+	RNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:28993116G>A	ENST00000322982.3	-	0	4818							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of cytokine production involved in immune response (GO:0002718)|toll-like receptor 4 signaling pathway (GO:0034142)	lipopolysaccharide receptor complex (GO:0046696)	lipopolysaccharide binding (GO:0001530)										TTCTATGGCTGAAAAGGTGGG	0.428																																																	0																																												9865				CCDS75573.1	7p14.3	2012-07-13			ENSG00000176734	ENSG00000255690			22200	protein-coding gene	gene with protein product		613356				19710467	Standard	NM_014817		Approved	KIAA0644	uc003szt.3	Q7L0X0	OTTHUMG00000152829		7.37:g.28993116G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1A6|O75139	RNA	SNP	-	NULL	ENST00000322982.3	37	NULL		7																																																																																			TRIL	-	-		0.428	TRIL-001	KNOWN	basic	processed_transcript	TRIL	HGNC	processed_transcript	OTTHUMT00000328187.2	G	NM_014817		28993116	-1	no_errors	ENST00000322982	ensembl	human	known	70_37	rna	SNP	0.000	A
TRIM16L	147166	genome.wustl.edu	37	17	18638554	18638554	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:18638554C>G	ENST00000449552.2	+	7	2312	c.828C>G	c.(826-828)ttC>ttG	p.F276L	TRIM16L_ENST00000395902.3_Missense_Mutation_p.F330L|TRIM16L_ENST00000395672.2_Missense_Mutation_p.F276L|TRIM16L_ENST00000571708.1_Missense_Mutation_p.F276L|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000395671.4_Missense_Mutation_p.F276L|TRIM16L_ENST00000572555.1_Missense_Mutation_p.F276L			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	276	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CTGGCCCTTTCTGGAGGCTCG	0.522																																																	0													76.0	78.0	77.0					17																	18638554		2203	4300	6503	SO:0001583	missense	147166			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.828C>G	17.37:g.18638554C>G	ENSP00000461386:p.Phe276Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.F330L	ENST00000449552.2	37	c.990	CCDS32588.1	17	.	.	.	.	.	.	.	.	.	.	c	6.292	0.422056	0.11928	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000395671	T;T;T	0.68331	-0.32;-0.32;-0.32	3.35	3.35	0.38373	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.417666	0.23971	U	0.042762	T	0.48642	0.1511	L	0.31157	0.91	0.29810	N	0.831694	P;P;P	0.38617	0.64;0.64;0.64	B;B;B	0.40602	0.334;0.334;0.334	T	0.42481	-0.9449	10	0.10111	T	0.7	-5.9929	6.4223	0.21750	0.0:0.8628:0.0:0.1372	.	330;492;276	B4DE22;B3KMJ2;Q309B1	.;.;TR16L_HUMAN	L	330;276;276	ENSP00000379239:F330L;ENSP00000379031:F276L;ENSP00000379030:F276L	ENSP00000379030:F276L	F	+	3	2	TRIM16L	18579279	0.489000	0.26004	0.431000	0.26735	0.053000	0.15095	0.908000	0.28545	1.710000	0.51325	0.194000	0.17425	TTC	TRIM16L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.522	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	C	NM_001037330		18638554	+1	no_errors	ENST00000395902	ensembl	human	known	70_37	missense	SNP	0.998	G
TRIM33	51592	genome.wustl.edu	37	1	114963040	114963040	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:114963040C>G	ENST00000358465.2	-	11	2145				TRIM33_ENST00000450349.2_Missense_Mutation_p.E307Q|TRIM33_ENST00000369543.2_Intron	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33						gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTCCAAACTCATACCAGGAG	0.438			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0																																										SO:0001627	intron_variant	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2061+1017G>C	1.37:g.114963040C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.E307Q	ENST00000358465.2	37	c.919	CCDS872.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.690|8.690	0.907121|0.907121	0.17833|0.17833	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000450349|ENST00000448034	T|.	0.74947|.	-0.89|.	3.81|3.81	-0.24|-0.24	0.13047|0.13047	.|.	.|.	.|.	.|.	.|.	T|T	0.12689|0.12689	0.0308|0.0308	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|.	0.10296|.	0.003;0.003|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.32455|0.32455	-0.9906|-0.9906	8|4	0.12103|.	T|.	0.63|.	.|.	6.1106|6.1106	0.20097|0.20097	0.0:0.483:0.0:0.517|0.0:0.483:0.0:0.517	.|.	307;307|.	E7EN20;B3KN30|.	.;.|.	Q|I	307|435	ENSP00000412077:E307Q|.	ENSP00000412077:E307Q|.	E|M	-|-	1|3	0|0	TRIM33|TRIM33	114764563|114764563	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.148000|0.148000	0.21650|0.21650	-0.979000|-0.979000	0.03774|0.03774	-0.035000|-0.035000	0.13691|0.13691	-0.310000|-0.310000	0.09108|0.09108	GAG|ATG	TRIM33	-	NULL		0.438	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM33	HGNC	protein_coding	OTTHUMT00000032854.1	C	NM_015906		114963040	-1	no_errors	ENST00000450349	ensembl	human	known	70_37	missense	SNP	0.000	G
TRIM17	51127	genome.wustl.edu	37	1	228596204	228596204	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:228596204C>A	ENST00000366697.2	-	6	2088	c.1132G>T	c.(1132-1134)Gac>Tac	p.D378Y	TRIM11_ENST00000493030.2_5'Flank|TRIM17_ENST00000366698.2_Missense_Mutation_p.D378Y|TRIM11_ENST00000284551.6_5'Flank|RP11-245P10.4_ENST00000436779.1_RNA|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Missense_Mutation_p.D378Y			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	378	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGGACCCTGTCTTTCCGGCTC	0.617																																																	0													72.0	81.0	78.0					1																	228596204		2203	4300	6503	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.1132G>T	1.37:g.228596204C>A	ENSP00000355658:p.Asp378Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVJ2|Q5VST8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.D378Y	ENST00000366697.2	37	c.1132	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535954	0.45176	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033	T;T;T	0.61742	0.08;0.08;0.08	4.71	2.67	0.31697	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.269718	0.26485	N	0.024105	T	0.55625	0.1932	L	0.41492	1.28	0.80722	D	1	D	0.54397	0.966	P	0.55161	0.77	T	0.57063	-0.7875	10	0.72032	D	0.01	.	5.8623	0.18754	0.0:0.7001:0.1956:0.1043	.	378	Q9Y577	TRI17_HUMAN	Y	378	ENSP00000355658:D378Y;ENSP00000355659:D378Y;ENSP00000295033:D378Y	ENSP00000295033:D378Y	D	-	1	0	TRIM17	226662827	0.603000	0.26924	0.855000	0.33649	0.094000	0.18550	2.582000	0.46085	1.286000	0.44565	0.655000	0.94253	GAC	TRIM17	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.617	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	C	NM_016102		228596204	-1	no_errors	ENST00000295033	ensembl	human	known	70_37	missense	SNP	0.995	A
TRIM51	84767	genome.wustl.edu	37	11	55653304	55653304	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:55653304G>A	ENST00000449290.2	+	2	492	c.400G>A	c.(400-402)Gag>Aag	p.E134K	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	134						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GTGGGCTGCTGAGGAACGCCG	0.478																																																	0													12.0	11.0	11.0					11																	55653304		692	1590	2282	SO:0001583	missense	84767			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.400G>A	11.37:g.55653304G>A	ENSP00000395086:p.Glu134Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMG2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E134K	ENST00000449290.2	37	c.400		11	.	.	.	.	.	.	.	.	.	.	.	9.866	1.197706	0.22037	.	.	ENSG00000124900	ENST00000449290	T	0.57436	0.4	0.803	-0.479	0.12089	.	.	.	.	.	T	0.54743	0.1877	M	0.91818	3.245	0.52501	D	0.999959	P	0.40553	0.721	B	0.40134	0.32	T	0.54186	-0.8331	9	0.54805	T	0.06	.	3.8204	0.08833	0.5695:0.0:0.4305:0.0	.	134	Q9BSJ1	SPRY5_HUMAN	K	134	ENSP00000395086:E134K	ENSP00000395086:E134K	E	+	1	0	SPRYD5	55409880	0.005000	0.15991	0.062000	0.19696	0.188000	0.23474	-0.081000	0.11321	-0.107000	0.12088	0.152000	0.16155	GAG	TRIM51	-	NULL		0.478	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	TRIM51	HGNC	protein_coding	OTTHUMT00000391522.1	G	NM_032681		55653304	+1	no_errors	ENST00000449290	ensembl	human	known	70_37	missense	SNP	0.905	A
TRIO	7204	genome.wustl.edu	37	5	14462916	14462916	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:14462916C>T	ENST00000344204.4	+	36	5573	c.5549C>T	c.(5548-5550)tCg>tTg	p.S1850L	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Missense_Mutation_p.S1850L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1850	Poly-Ser.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCTCCTCCTCGGGGATGCAG	0.612																																																	0													73.0	83.0	80.0					5																	14462916		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5549C>T	5.37:g.14462916C>T	ENSP00000339299:p.Ser1850Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S1850L	ENST00000344204.4	37	c.5549	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159218	0.57368	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	T;T	0.66638	-0.22;-0.2	5.47	4.6	0.57074	.	0.203479	0.44688	D	0.000428	T	0.60470	0.2271	L	0.51422	1.61	0.58432	D	0.999997	P;B;P	0.45428	0.858;0.417;0.569	B;B;B	0.38194	0.267;0.119;0.086	T	0.61758	-0.6997	10	0.36615	T	0.2	.	16.3712	0.83361	0.0:0.8681:0.1319:0.0	.	1850;1850;1850	D3DTD2;O75962-5;O75962	.;.;TRIO_HUMAN	L	1850;1850;1537	ENSP00000339299:S1850L;ENSP00000446348:S1850L	ENSP00000339299:S1850L	S	+	2	0	TRIO	14515916	1.000000	0.71417	0.719000	0.30619	0.374000	0.29953	7.755000	0.85180	1.301000	0.44836	-0.165000	0.13383	TCG	TRIO	-	NULL		0.612	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	C	NM_007118		14462916	+1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	0.998	T
TRIO	7204	genome.wustl.edu	37	5	14507291	14507291	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:14507291G>C	ENST00000344204.4	+	56	8697	c.8673G>C	c.(8671-8673)aaG>aaC	p.K2891N	TRIO_ENST00000537187.1_Missense_Mutation_p.K2715N|TRIO_ENST00000344135.5_Missense_Mutation_p.K390N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2891	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGAAGGGAAGATCAGGGCGC	0.607																																																	0													76.0	67.0	70.0					5																	14507291		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8673G>C	5.37:g.14507291G>C	ENSP00000339299:p.Lys2891Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.K2891N	ENST00000344204.4	37	c.8673	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088169	0.76642	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.66280	-0.2;-0.2;-0.2	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	N	0.21508	0.67	0.25302	N	0.989274	D	0.76494	0.999	D	0.87578	0.998	T	0.66540	-0.5898	10	0.66056	D	0.02	.	19.4354	0.94792	0.0:0.0:1.0:0.0	.	2891	O75962	TRIO_HUMAN	N	2891;2715;390	ENSP00000339299:K2891N;ENSP00000446348:K2715N;ENSP00000339291:K390N	ENSP00000339291:K390N	K	+	3	2	TRIO	14560291	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.823000	0.48081	2.583000	0.87209	0.655000	0.94253	AAG	TRIO	-	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		0.607	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14507291	+1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIOBP	11078	genome.wustl.edu	37	22	38130433	38130433	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:38130433G>A	ENST00000406386.3	+	9	4345	c.4090G>A	c.(4090-4092)Gaa>Aaa	p.E1364K		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1364					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAAACAGGCAGAACTGACCCG	0.647																																																	0													30.0	35.0	33.0					22																	38130433		1967	4149	6116	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.4090G>A	22.37:g.38130433G>A	ENSP00000384312:p.Glu1364Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1364K	ENST00000406386.3	37	c.4090	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714454	0.68730	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.38077	1.16	5.62	5.62	0.85841	.	.	.	.	.	T	0.31451	0.0797	N	0.24115	0.695	0.80722	D	1	P	0.46395	0.877	B	0.43360	0.417	T	0.10200	-1.0640	9	0.66056	D	0.02	.	16.5714	0.84613	0.0:0.0:1.0:0.0	.	1364	Q9H2D6	TARA_HUMAN	K	1364;1325	ENSP00000384312:E1364K	ENSP00000384312:E1364K	E	+	1	0	TRIOBP	36460379	0.980000	0.34600	0.986000	0.45419	0.613000	0.37349	5.515000	0.67049	2.644000	0.89710	0.563000	0.77884	GAA	TRIOBP	-	NULL		0.647	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	G			38130433	+1	no_errors	ENST00000406386	ensembl	human	known	70_37	missense	SNP	0.934	A
TRIP11	9321	genome.wustl.edu	37	14	92477349	92477349	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:92477349G>A	ENST00000267622.4	-	9	1668	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	432					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ACTCAGTAATGACTTCTCTTT	0.378			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													165.0	143.0	150.0					14																	92477349		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1295C>T	14.37:g.92477349G>A	ENSP00000267622:p.Ser432Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.S432L	ENST00000267622.4	37	c.1295	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	G	8.756	0.922412	0.17982	.	.	ENSG00000100815	ENST00000267622	T	0.63096	-0.02	5.87	4.05	0.47172	.	0.597834	0.17459	N	0.173512	T	0.51669	0.1688	L	0.45581	1.43	0.24525	N	0.99414	B	0.18310	0.027	B	0.18561	0.022	T	0.39663	-0.9603	10	0.28530	T	0.3	.	8.3418	0.32247	0.2408:0.0:0.7592:0.0	.	432	Q15643	TRIPB_HUMAN	L	432	ENSP00000267622:S432L	ENSP00000267622:S432L	S	-	2	0	TRIP11	91547102	0.958000	0.32768	0.315000	0.25238	0.349000	0.29174	1.630000	0.37081	0.942000	0.37525	-0.136000	0.14681	TCA	TRIP11	-	NULL		0.378	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	G			92477349	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	0.591	A
TRNAU1AP	54952	genome.wustl.edu	37	1	28904068	28904068	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:28904068G>A	ENST00000373830.3	+	9	810	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384581.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	262					selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GGAACAGAGTGAGGAGCTGTA	0.557																																																	0													190.0	178.0	182.0					1																	28904068		2203	4300	6503	SO:0001583	missense	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.784G>A	1.37:g.28904068G>A	ENSP00000362936:p.Glu262Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86SU7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E262K	ENST00000373830.3	37	c.784	CCDS324.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.434953	0.96150	.	.	ENSG00000180098	ENST00000373830	T	0.60920	0.15	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.74038	0.3664	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67814	-0.5573	10	0.23302	T	0.38	.	18.6987	0.91613	0.0:0.0:1.0:0.0	.	262	Q9NX07	TSAP1_HUMAN	K	262	ENSP00000362936:E262K	ENSP00000362936:E262K	E	+	1	0	TRNAU1AP	28776655	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	8.833000	0.92089	2.763000	0.94921	0.591000	0.81541	GAG	TRNAU1AP	-	NULL		0.557	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	G	NM_017846		28904068	+1	no_errors	ENST00000373830	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPC5	7224	genome.wustl.edu	37	X	111195357	111195357	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:111195357C>T	ENST00000262839.2	-	2	1210	c.292G>A	c.(292-294)Gat>Aat	p.D98N		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	98					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAATGCATCACCCACATAC	0.567																																																	0													159.0	136.0	144.0					X																	111195357		2203	4300	6503	SO:0001583	missense	7224			AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.292G>A	X.37:g.111195357C>T	ENSP00000262839:p.Asp98Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.D98N	ENST00000262839.2	37	c.292	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	C	33	5.217224	0.95104	.	.	ENSG00000072315	ENST00000262839	T	0.63913	-0.07	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.044806	0.85682	D	0.000000	T	0.78130	0.4235	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78986	-0.1987	10	0.56958	D	0.05	-5.1168	18.6162	0.91303	0.0:1.0:0.0:0.0	.	99;98	Q59G51;Q9UL62	.;TRPC5_HUMAN	N	98	ENSP00000262839:D98N	ENSP00000262839:D98N	D	-	1	0	TRPC5	111082013	1.000000	0.71417	0.919000	0.36401	0.978000	0.69477	7.818000	0.86416	2.339000	0.79563	0.513000	0.50165	GAT	TRPC5	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel		0.567	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	C	NM_012471		111195357	-1	no_errors	ENST00000262839	ensembl	human	known	70_37	missense	SNP	1.000	T
TRPM1	4308	genome.wustl.edu	37	15	31294254	31294254	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:31294254C>A	ENST00000256552.6	-	28	4796	c.4649G>T	c.(4648-4650)aGa>aTa	p.R1550I	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1567I|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1528I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R1528I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATCCCATTTCTGTCAGTAAT	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)											240.0	219.0	226.0					15																	31294254		1938	4148	6086	SO:0001583	missense	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4649G>T	15.37:g.31294254C>A	ENSP00000256552:p.Arg1550Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R1567I	ENST00000256552.6	37	c.4700	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878810	0.33162	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.52754	0.67;0.65;0.68	4.87	2.96	0.34315	.	0.265027	0.29100	N	0.013160	T	0.34337	0.0894	L	0.29908	0.895	0.22896	N	0.998598	B;B	0.20550	0.046;0.027	B;B	0.22753	0.041;0.027	T	0.35500	-0.9786	10	0.87932	D	0	-16.5745	9.1646	0.37043	0.0:0.7547:0.0:0.2453	.	1522;1528	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	I	1528;1567;1550;1528	ENSP00000380897:R1528I;ENSP00000437849:R1567I;ENSP00000256552:R1550I	ENSP00000256552:R1550I	R	-	2	0	TRPM1	29081546	0.138000	0.22547	0.028000	0.17463	0.248000	0.25809	0.722000	0.25925	1.173000	0.42796	0.563000	0.77884	AGA	TRPM1	-	NULL		0.433	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	C	NM_002420		31294254	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	missense	SNP	0.096	A
TRRAP	8295	genome.wustl.edu	37	7	98592351	98592351	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:98592351G>C	ENST00000359863.4	+	66	10356	c.10147G>C	c.(10147-10149)Gag>Cag	p.E3383Q	TRRAP_ENST00000446306.3_Missense_Mutation_p.E3372Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.E3354Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3383					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGGGCCTGGAGAATGTGTC	0.567																																																	0													179.0	172.0	174.0					7																	98592351		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10147G>C	7.37:g.98592351G>C	ENSP00000352925:p.Glu3383Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E3383Q	ENST00000359863.4	37	c.10147	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.947593|4.947593	0.92593|0.92593	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.02974|.	4.09;4.09|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78910|0.78910	0.4358|0.4358	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;P;P|.	0.67145|.	0.996;0.866;0.929|.	P;B;P|.	0.58820|.	0.846;0.316;0.462|.	T|T	0.79792|0.79792	-0.1654|-0.1654	10|5	0.33141|.	T|.	0.24|.	.|.	18.9356|18.9356	0.92584|0.92584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3354;3111;3383|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	Q|C	3383;3354;3371|3111	ENSP00000352925:E3383Q;ENSP00000347733:E3354Q|.	ENSP00000347733:E3354Q|.	E|W	+|+	1|3	0|0	TRRAP|TRRAP	98430287|98430287	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.869000|9.869000	0.99810|0.99810	2.460000|2.460000	0.83146|0.83146	0.462000|0.462000	0.41574|0.41574	GAG|TGG	TRRAP	-	NULL		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	G	NM_003496		98592351	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	C
TSC2	7249	genome.wustl.edu	37	16	2129136	2129136	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:2129136G>A	ENST00000219476.3	+	27	3700	c.3070G>A	c.(3070-3072)Gaa>Aaa	p.E1024K	TSC2_ENST00000568454.1_Missense_Mutation_p.E991K|TSC2_ENST00000439673.2_Missense_Mutation_p.E944K|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000401874.2_Missense_Mutation_p.E980K|TSC2_ENST00000382538.6_Missense_Mutation_p.E932K|TSC2_ENST00000350773.4_Missense_Mutation_p.E1024K|TSC2_ENST00000353929.4_Missense_Mutation_p.E981K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1024					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GGAGCTCACGGAAACCTGTCT	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													125.0	100.0	109.0					16																	2129136		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3070G>A	16.37:g.2129136G>A	ENSP00000219476:p.Glu1024Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.E1024K	ENST00000219476.3	37	c.3070	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	G	33	5.286145	0.95517	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95885	-3.78;-3.82;-3.83;-3.84;-3.7	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D;D	0.71674	0.995;0.998;0.997;0.998;0.996;0.982	D;D;D;D;D;D	0.87578	0.956;0.998;0.98;0.997;0.938;0.952	D	0.98383	1.0559	10	0.72032	D	0.01	-22.301	18.5973	0.91234	0.0:0.0:1.0:0.0	.	932;944;1024;980;980;1024	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	K	1024;981;981;944;932;1024	ENSP00000219476:E1024K;ENSP00000248099:E981K;ENSP00000399232:E944K;ENSP00000371978:E932K;ENSP00000344383:E1024K	ENSP00000219476:E1024K	E	+	1	0	TSC2	2069137	1.000000	0.71417	0.323000	0.25347	0.774000	0.43823	9.787000	0.99055	2.389000	0.81357	0.655000	0.94253	GAA	TSC2	-	NULL		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2129136	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	A
TSGA10	80705	genome.wustl.edu	37	2	99695290	99695290	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:99695290C>G	ENST00000393483.3	-	12	1572				TSGA10_ENST00000542655.1_Intron|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Intron|TSGA10_ENST00000355053.4_Intron|TSGA10_ENST00000410001.1_Intron	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10						cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGTATGCAATCATAAAAGTGT	0.294																																																	0													58.0	58.0	58.0					2																	99695290		2203	4300	6503	SO:0001627	intron_variant	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.728-14G>C	2.37:g.99695290C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	RNA	SNP	-	NULL	ENST00000393483.3	37	NULL	CCDS2037.1	2																																																																																			TSGA10	-	-		0.294	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA10	HGNC	protein_coding	OTTHUMT00000253125.1	C	NM_182911		99695290	-1	no_errors	ENST00000489546	ensembl	human	known	70_37	rna	SNP	1.000	G
TSHZ1	10194	genome.wustl.edu	37	18	72999996	72999996	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:72999996G>A	ENST00000580243.1	+	2	2982	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	TSHZ1_ENST00000322038.5_Silent_p.E833E			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	878					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CGTTGGACGAGCTGTCACCGG	0.617																																																	0													56.0	51.0	53.0					18																	72999996		2203	4300	6503	SO:0001819	synonymous_variant	10194			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.2634G>A	18.37:g.72999996G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60534|Q4LE29|Q53EU4	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.E878	ENST00000580243.1	37	c.2634		18																																																																																			TSHZ1	-	superfamily_Homeodomain-like		0.617	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	G	NM_005786		72999996	+1	no_errors	ENST00000580243	ensembl	human	known	70_37	silent	SNP	1.000	A
TSPYL4	23270	genome.wustl.edu	37	6	116575098	116575098	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:116575098G>C	ENST00000420283.1	-	1	163	c.74C>G	c.(73-75)tCa>tGa	p.S25*	DSE_ENST00000540275.1_5'Flank|RP3-486I3.7_ENST00000448740.2_lincRNA	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	25					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		CGGATCTCCTGAGGCATGGTC	0.632																																																	0													23.0	27.0	26.0					6																	116575098		1982	4159	6141	SO:0001587	stop_gained	23270				CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.74C>G	6.37:g.116575098G>C	ENSP00000410943:p.Ser25*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYQ2|O94828|Q96GW8	Nonsense_Mutation	SNP	pfam_NAP_family	p.S25*	ENST00000420283.1	37	c.74	CCDS5106.1	6	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831943	0.91036	.	.	ENSG00000187189	ENST00000420283	.	.	.	4.12	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.0668	12.1678	0.54139	0.0:0.0:1.0:0.0	.	.	.	.	X	25	.	ENSP00000410943:S25X	S	-	2	0	TSPYL4	116681791	0.000000	0.05858	0.005000	0.12908	0.316000	0.28119	0.700000	0.25601	2.585000	0.87301	0.462000	0.41574	TCA	TSPYL4	-	NULL		0.632	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL4	HGNC	protein_coding	OTTHUMT00000041934.2	G			116575098	-1	no_errors	ENST00000420283	ensembl	human	known	70_37	nonsense	SNP	0.005	C
TTC28	23331	genome.wustl.edu	37	22	28378382	28378382	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:28378382G>C	ENST00000397906.2	-	23	7414	c.7273C>G	c.(7273-7275)Cca>Gca	p.P2425A	TTC28-AS1_ENST00000430853.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000424161.1_RNA|TTC28-AS1_ENST00000454996.1_RNA|TTC28-AS1_ENST00000425112.1_RNA|TTC28-AS1_ENST00000435348.1_RNA|TTC28-AS1_ENST00000453632.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000430525.1_RNA|TTC28-AS1_ENST00000419253.1_RNA|TTC28-AS1_ENST00000434221.1_RNA|TTC28-AS1_ENST00000454741.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	2425					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						GCTTTCGGTGGAGCTCCGTCA	0.647																																																	0													64.0	69.0	68.0					22																	28378382		692	1591	2283	SO:0001583	missense	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.7273C>G	22.37:g.28378382G>C	ENSP00000381003:p.Pro2425Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.P2425A	ENST00000397906.2	37	c.7273	CCDS46678.1	22	.	.	.	.	.	.	.	.	.	.	G	2.535	-0.307539	0.05458	.	.	ENSG00000100154	ENST00000397906	D	0.87729	-2.29	4.99	4.99	0.66335	.	0.216882	0.40640	N	0.001046	T	0.74351	0.3705	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62599	-0.6820	10	0.44086	T	0.13	-16.4592	8.8572	0.35236	0.082:0.1511:0.7668:0.0	.	2425	Q96AY4	TTC28_HUMAN	A	2425	ENSP00000381003:P2425A	ENSP00000381003:P2425A	P	-	1	0	TTC28	26708382	0.924000	0.31332	0.082000	0.20525	0.009000	0.06853	1.690000	0.37711	2.482000	0.83794	0.655000	0.94253	CCA	TTC28	-	NULL		0.647	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	G	XM_929318		28378382	-1	no_errors	ENST00000397906	ensembl	human	novel	70_37	missense	SNP	0.127	C
TTC3	7267	genome.wustl.edu	37	21	38569941	38569941	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:38569941G>A	ENST00000399017.2	+	43	8397	c.5650G>A	c.(5650-5652)Gat>Aat	p.D1884N	TTC3_ENST00000354749.2_Missense_Mutation_p.D1884N|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.D1884N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1884					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATTGAGTATTGATGAAATTGT	0.333																																					Ovarian(38;194 1649 35661)												0													53.0	51.0	52.0					21																	38569941		2203	4300	6503	SO:0001583	missense	7267			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5650G>A	21.37:g.38569941G>A	ENSP00000381981:p.Asp1884Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.D1884N	ENST00000399017.2	37	c.5650	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966263	0.74131	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.10099	2.91;2.91;2.91	5.17	5.17	0.71159	.	0.500574	0.20771	N	0.085997	T	0.22551	0.0544	M	0.74258	2.255	0.80722	D	1	P	0.52316	0.952	P	0.49477	0.612	T	0.00807	-1.1558	10	0.49607	T	0.09	-12.7218	14.1723	0.65517	0.0:0.0:1.0:0.0	.	1884	P53804	TTC3_HUMAN	N	1884	ENSP00000347889:D1884N;ENSP00000381981:D1884N;ENSP00000346791:D1884N	ENSP00000346791:D1884N	D	+	1	0	TTC3	37491811	0.983000	0.35010	0.973000	0.42090	0.999000	0.98932	1.973000	0.40550	2.409000	0.81822	0.650000	0.86243	GAT	TTC3	-	NULL		0.333	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	G			38569941	+1	no_errors	ENST00000354749	ensembl	human	known	70_37	missense	SNP	0.917	A
TTI1	9675	genome.wustl.edu	37	20	36640387	36640387	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:36640387G>C	ENST00000373448.2	-	3	2070	c.1832C>G	c.(1831-1833)tCa>tGa	p.S611*	TTI1_ENST00000449821.1_Nonsense_Mutation_p.S611*|TTI1_ENST00000373447.3_Nonsense_Mutation_p.S611*|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	611					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACTTGGCTTTGAGAAGGCTAG	0.473																																																	0													144.0	142.0	142.0					20																	36640387		2203	4300	6503	SO:0001587	stop_gained	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1832C>G	20.37:g.36640387G>C	ENSP00000362547:p.Ser611*	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Nonsense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.S611*	ENST00000373448.2	37	c.1832	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	37	5.986101	0.97173	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-14.0242	16.1065	0.81225	0.0:0.0:1.0:0.0	.	.	.	.	X	611	.	ENSP00000362546:S611X	S	-	2	0	TTI1	36073801	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.708000	0.84633	2.719000	0.93026	0.655000	0.94253	TCA	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.473	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	G	NM_014657		36640387	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	nonsense	SNP	1.000	C
TTLL12	23170	genome.wustl.edu	37	22	43567739	43567739	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:43567739C>T	ENST00000216129.6	-	11	1639				TTLL12_ENST00000494035.1_5'UTR|TTLL12_ENST00000484118.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12						cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GTGTGCCAGTCCTCCTAGGAG	0.632																																																	0																																										SO:0001627	intron_variant	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1575+85G>A	22.37:g.43567739C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q20WK5|Q9UGU3	RNA	SNP	-	NULL	ENST00000216129.6	37	NULL	CCDS14047.1	22																																																																																			TTLL12	-	-		0.632	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	C	NM_015140		43567739	-1	no_errors	ENST00000494035	ensembl	human	known	70_37	rna	SNP	0.001	T
TTLL6	284076	genome.wustl.edu	37	17	46867437	46867437	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:46867437G>C	ENST00000393382.3	-	10	1397	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	TTLL6_ENST00000433608.2_Missense_Mutation_p.S112C	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCAACCGAGAGTCGGTGGA	0.512																																																	0													101.0	94.0	96.0					17																	46867437		2203	4300	6503	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.1256C>G	17.37:g.46867437G>C	ENSP00000377043:p.Ser419Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S419C	ENST00000393382.3	37	c.1256	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583918	0.86748	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	5.63	5.63	0.86233	ATP-grasp fold, subdomain 2 (1);	0.000000	0.64402	D	0.000001	T	0.78761	0.4334	M	0.69248	2.105	0.53005	D	0.999967	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.976;0.992;0.983	T	0.79685	-0.1700	9	0.87932	D	0	.	18.8174	0.92081	0.0:0.0:1.0:0.0	.	371;172;112	Q8N841;D3DTW0;G5E937	TTLL6_HUMAN;.;.	C	419;112;97;371	.	ENSP00000302547:S112C	S	-	2	0	TTLL6	44222436	1.000000	0.71417	0.990000	0.47175	0.883000	0.51084	9.476000	0.97823	2.815000	0.96918	0.561000	0.74099	TCT	TTLL6	-	pfam_Tub_tyr_ligase		0.512	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	G	NM_173623		46867437	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179426582	179426582	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179426582C>T	ENST00000591111.1	-	276	79578	c.79354G>A	c.(79354-79356)Gaa>Aaa	p.E26452K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25525K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19220K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28093K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19153K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19028K|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26452	Fibronectin type-III 92. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTCTTTTCAACAATGTAA	0.393																																																	0													52.0	50.0	51.0					2																	179426582		1886	4118	6004	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.79354G>A	2.37:g.179426582C>T	ENSP00000465570:p.Glu26452Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E25525K	ENST00000591111.1	37	c.76573		2	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297915	0.60086	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83069	0.5174	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	D	0.86899	0.2053	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	19028;19153;19220;26452	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25525;19028;19220;19153;19026	ENSP00000343764:E25525K;ENSP00000434586:E19028K;ENSP00000340554:E19220K;ENSP00000352154:E19153K	ENSP00000340554:E19220K	E	-	1	0	TTN	179134828	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179426582	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179429007	179429007	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179429007G>C	ENST00000591111.1	-	276	77153	c.76929C>G	c.(76927-76929)gtC>gtG	p.V25643V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V24716V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V18411V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.V27284V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V18344V|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.V18219V|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25643	Ig-like 125.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGATGACATCTTTAT	0.408																																																	0													146.0	143.0	144.0					2																	179429007		1919	4133	6052	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76929C>G	2.37:g.179429007G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V24716	ENST00000591111.1	37	c.74148		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179429007	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.949	C
TTN	7273	genome.wustl.edu	37	2	179452710	179452710	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179452710C>G	ENST00000591111.1	-	255	58725	c.58501G>C	c.(58501-58503)Gag>Cag	p.E19501Q	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E18574Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E12269Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E21142Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E12202Q|TTN_ENST00000460472.2_Missense_Mutation_p.E12077Q|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19501	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCTGAACTCATATTCCTGG	0.468																																																	0													63.0	60.0	61.0					2																	179452710		1915	4124	6039	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58501G>C	2.37:g.179452710C>G	ENSP00000465570:p.Glu19501Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E18574Q	ENST00000591111.1	37	c.55720		2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593527	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.78	5.78	0.91487	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60818	0.2298	N	0.17594	0.5	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.961;0.961;0.961;0.979	T	0.66101	-0.6007	9	0.87932	D	0	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	12077;12202;12269;19501	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	18574;12077;12269;12202;12075	ENSP00000343764:E18574Q;ENSP00000434586:E12077Q;ENSP00000340554:E12269Q;ENSP00000352154:E12202Q	ENSP00000340554:E12269Q	E	-	1	0	TTN	179160956	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.770000	0.85390	2.729000	0.93468	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179452710	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179486048	179486048	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179486048C>G	ENST00000591111.1	-	196	40698	c.40474G>C	c.(40474-40476)Gaa>Caa	p.E13492Q	TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E12565Q|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E6260Q|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E15133Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6193Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E6068Q			Q8WZ42	TITIN_HUMAN	titin	13492	Ig-like 91.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTCCTTCAAGTATTTCA	0.348																																																	0													92.0	79.0	83.0					2																	179486048		1814	4070	5884	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40474G>C	2.37:g.179486048C>G	ENSP00000465570:p.Glu13492Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E12565Q	ENST00000591111.1	37	c.37693		2	.	.	.	.	.	.	.	.	.	.	C	16.45	3.126942	0.56721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75679	0.3882	M	0.86864	2.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.77550	-0.2546	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	6068;6193;6260;13492	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	12565;6068;6260;6193;6068	ENSP00000343764:E12565Q;ENSP00000434586:E6068Q;ENSP00000340554:E6260Q;ENSP00000352154:E6193Q	ENSP00000340554:E6260Q	E	-	1	0	TTN	179194293	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179486048	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179589076	179589076	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179589076G>C	ENST00000591111.1	-	70	20299	c.20075C>G	c.(20074-20076)tCa>tGa	p.S6692*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S5765*|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S7009*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12295	Ig-like 48.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTCAACTGAGAGAATCCT	0.418																																																	0													88.0	83.0	85.0					2																	179589076		1900	4128	6028	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20075C>G	2.37:g.179589076G>C	ENSP00000465570:p.Ser6692*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S5765*	ENST00000591111.1	37	c.17294		2	.	.	.	.	.	.	.	.	.	.	G	57	29.597482	0.99976	.	.	ENSG00000155657	ENST00000342992	.	.	.	6.02	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.2362	0.43284	0.0713:0.0:0.7638:0.1649	.	.	.	.	X	5765	.	ENSP00000343764:S5765X	S	-	2	0	TTN	179297321	0.649000	0.27322	0.878000	0.34440	0.731000	0.41821	2.965000	0.49200	1.561000	0.49584	0.655000	0.94253	TCA	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179589076	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	nonsense	SNP	0.662	C
TTN	7273	genome.wustl.edu	37	2	179611025	179611025	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179611025C>G	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E5368Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTTAGTTCTTTGTCTTCT	0.318																																																	0													51.0	47.0	49.0					2																	179611025		2203	4299	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10361-4377G>C	2.37:g.179611025C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E5368Q	ENST00000591111.1	37	c.16102		2	.	.	.	.	.	.	.	.	.	.	C	8.211	0.800354	0.16397	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.58797	0.31	5.88	5.88	0.94601	.	.	.	.	.	T	0.51941	0.1704	L	0.36672	1.1	0.80722	D	1	B	0.15930	0.015	B	0.15870	0.014	T	0.38112	-0.9676	9	0.32370	T	0.25	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	5368	Q8WZ42-6	.	Q	5368;649	ENSP00000354117:E5368Q	ENSP00000304714:E649Q	E	-	1	0	TTN	179319270	1.000000	0.71417	0.993000	0.49108	0.140000	0.21249	5.999000	0.70665	2.782000	0.95742	0.655000	0.94253	GAA	TTN	-	NULL		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179611025	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179616464	179616464	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179616464C>G	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E3555Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATCACTCTCAGCTTTTATA	0.398																																																	0													77.0	79.0	78.0					2																	179616464		2202	4300	6502	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1386G>C	2.37:g.179616464C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E3555Q	ENST00000591111.1	37	c.10663		2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721793	0.48728	.	.	ENSG00000155657	ENST00000360870	T	0.68624	-0.34	5.86	4.08	0.47627	.	.	.	.	.	T	0.49457	0.1558	N	0.16037	0.36	0.80722	D	1	P	0.49783	0.928	B	0.43103	0.408	T	0.40720	-0.9548	9	0.25106	T	0.35	.	12.4839	0.55861	0.0:0.8634:0.0:0.1366	.	3555	Q8WZ42-6	.	Q	3555	ENSP00000354117:E3555Q	ENSP00000354117:E3555Q	E	-	1	0	TTN	179324709	0.997000	0.39634	0.997000	0.53966	0.933000	0.57130	3.329000	0.52060	0.836000	0.34901	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179616464	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179638336	179638336	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179638336C>T	ENST00000591111.1	-	32	7671	c.7447G>A	c.(7447-7449)Gaa>Aaa	p.E2483K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E2483K|TTN_ENST00000360870.5_Missense_Mutation_p.E2483K|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2437K|TTN_ENST00000589042.1_Missense_Mutation_p.E2483K|TTN_ENST00000359218.5_Missense_Mutation_p.E2437K|TTN_ENST00000460472.2_Missense_Mutation_p.E2437K|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12804	Ig-like 14.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATTTGTTCATCATTTAAG	0.423																																																	0													128.0	117.0	121.0					2																	179638336		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7447G>A	2.37:g.179638336C>T	ENSP00000465570:p.Glu2483Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2483K	ENST00000591111.1	37	c.7447		2	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783074	0.31593	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41719	0.1171	N	0.02412	-0.56	0.26746	N	0.970284	B;B;B;B;B	0.24823	0.003;0.003;0.003;0.003;0.112	B;B;B;B;B	0.17722	0.008;0.008;0.008;0.008;0.019	T	0.31696	-0.9934	9	0.87932	D	0	.	9.9898	0.41863	0.0:0.6762:0.2533:0.0706	.	2437;2437;2437;2483;2483	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	2483;2437;2437;2437;2437;2483	ENSP00000343764:E2483K;ENSP00000434586:E2437K;ENSP00000340554:E2437K;ENSP00000352154:E2437K;ENSP00000354117:E2483K	ENSP00000340554:E2437K	E	-	1	0	TTN	179346581	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	2.536000	0.45693	2.765000	0.95021	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179638336	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179641319	179641319	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:179641319C>G	ENST00000591111.1	-	28	5496	c.5272G>C	c.(5272-5274)Ggg>Cgg	p.G1758R	RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G1758R|TTN_ENST00000360870.5_Missense_Mutation_p.G1758R|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G1712R|TTN_ENST00000589042.1_Missense_Mutation_p.G1758R|TTN_ENST00000359218.5_Missense_Mutation_p.G1712R|TTN_ENST00000460472.2_Missense_Mutation_p.G1712R|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12590	Ig-like 8.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCAGTACCCAAATTCATTG	0.473																																																	0													74.0	66.0	69.0					2																	179641319		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5272G>C	2.37:g.179641319C>G	ENSP00000465570:p.Gly1758Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.G1758R	ENST00000591111.1	37	c.5272		2	.	.	.	.	.	.	.	.	.	.	C	12.01	1.809735	0.31961	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.05	5.05	0.67936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85084	0.5616	M	0.88310	2.945	0.46279	D	0.998961	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88273	0.2931	9	0.87932	D	0	.	18.3911	0.90484	0.0:1.0:0.0:0.0	.	1712;1712;1712;1758;1758	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	R	1758;1712;1712;1712;1712;1758	ENSP00000343764:G1758R;ENSP00000434586:G1712R;ENSP00000340554:G1712R;ENSP00000352154:G1712R;ENSP00000354117:G1758R	ENSP00000340554:G1712R	G	-	1	0	TTN	179349564	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.688000	0.84153	2.363000	0.80096	0.561000	0.74099	GGG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641319	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TUBBP5	643224	genome.wustl.edu	37	9	141070177	141070177	+	RNA	SNP	G	G	T	rs536908723		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:141070177G>T	ENST00000503395.1	+	0	1257									tubulin, beta pseudogene 5																		AGCTGCGGGCGAGGACTGGGG	0.647																																																	0																																												643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070177G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000503395.1	37	NULL		9																																																																																			TUBBP5	-	-		0.647	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	HGNC	pseudogene	OTTHUMT00000373087.1	G	NR_027156		141070177	+1	no_errors	ENST00000503395	ensembl	human	known	70_37	rna	SNP	0.412	T
TUBG1	7283	genome.wustl.edu	37	17	40766963	40766963	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40766963G>C	ENST00000251413.3	+	11	1322	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	420					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	ACTTTGATGAGATGGACACAT	0.562																																					Colon(20;114 698 11420 22864)												0													134.0	131.0	132.0					17																	40766963		2203	4300	6503	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1260G>C	17.37:g.40766963G>C	ENSP00000251413:p.Glu420Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X79|Q9BW59	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.E420D	ENST00000251413.3	37	c.1260	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074852	0.76415	.	.	ENSG00000131462	ENST00000251413	D	0.85629	-2.01	5.02	4.05	0.47172	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92538	0.7630	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.93446	0.6798	10	0.87932	D	0	-16.1871	13.5258	0.61594	0.0755:0.0:0.9245:0.0	.	420	P23258	TBG1_HUMAN	D	420	ENSP00000251413:E420D	ENSP00000251413:E420D	E	+	3	2	TUBG1	38020489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.655000	0.54460	1.118000	0.41863	0.563000	0.77884	GAG	TUBG1	-	superfamily_Tub_FtsZ_C,prints_Gamma_tubulin		0.562	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	G	NM_001070		40766963	+1	no_errors	ENST00000251413	ensembl	human	known	70_37	missense	SNP	1.000	C
TUBG2	27175	genome.wustl.edu	37	17	40812669	40812669	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:40812669C>T	ENST00000251412.7	+	4	542	c.343C>T	c.(343-345)Cat>Tat	p.H115Y		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	115					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TGAGAAAATTCATGAAGACAT	0.483																																																	0													84.0	79.0	81.0					17																	40812669		2203	4300	6503	SO:0001583	missense	27175			AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.343C>T	17.37:g.40812669C>T	ENSP00000251412:p.His115Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDI4|Q32NB2	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.H115Y	ENST00000251412.7	37	c.343	CCDS32658.1	17	.	.	.	.	.	.	.	.	.	.	C	9.881	1.201479	0.22121	.	.	ENSG00000037042	ENST00000251412	T	0.67865	-0.29	4.68	3.72	0.42706	Tubulin/FtsZ, GTPase domain (4);	0.118179	0.64402	N	0.000016	T	0.48295	0.1492	N	0.16266	0.395	0.54753	D	0.999981	B	0.10296	0.003	B	0.12156	0.007	T	0.36601	-0.9741	10	0.19590	T	0.45	-18.9042	13.0636	0.59020	0.0:0.9221:0.0:0.0779	.	115	Q9NRH3	TBG2_HUMAN	Y	115	ENSP00000251412:H115Y	ENSP00000251412:H115Y	H	+	1	0	TUBG2	38066195	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	5.736000	0.68597	1.340000	0.45581	0.561000	0.74099	CAT	TUBG2	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Beta_tubulin		0.483	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG2	HGNC	protein_coding	OTTHUMT00000452326.1	C	NM_016437		40812669	+1	no_errors	ENST00000251412	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBD1	51174	genome.wustl.edu	37	17	57941116	57941116	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:57941116C>G	ENST00000592426.1	-	7	1168	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	TUBD1_ENST00000340993.6_Missense_Mutation_p.E335Q|TUBD1_ENST00000346141.6_Missense_Mutation_p.E136Q|TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.E288Q|TUBD1_ENST00000325752.3_Missense_Mutation_p.E390Q|TUBD1_ENST00000539018.1_Missense_Mutation_p.E174Q			Q9UJT1	TBD_HUMAN	tubulin, delta 1	390					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GCAGACTTCTCATATTTGCTA	0.413																																																	0													87.0	86.0	86.0					17																	57941116		2203	4300	6503	SO:0001583	missense	51174			AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.1168G>C	17.37:g.57941116C>G	ENSP00000468518:p.Glu390Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin	p.E390Q	ENST00000592426.1	37	c.1168	CCDS11620.1	17	.	.	.	.	.	.	.	.	.	.	c	20.5	3.998369	0.74818	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000376094;ENST00000539018	T;T;T;T	0.80994	-1.13;-0.82;-1.44;-0.95	5.59	5.59	0.84812	Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91277	0.7250	M	0.85542	2.76	0.58432	D	0.999999	D;D;P;D;P	0.89917	1.0;0.999;0.888;0.999;0.955	D;D;B;D;P	0.85130	0.997;0.961;0.363;0.983;0.786	D	0.91827	0.5472	10	0.87932	D	0	-19.3872	20.0232	0.97510	0.0:1.0:0.0:0.0	.	136;335;288;335;390	Q9UJT1-3;Q5KU37;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	Q	390;335;136;288;174	ENSP00000320797:E390Q;ENSP00000342399:E335Q;ENSP00000342561:E136Q;ENSP00000365262:E288Q	ENSP00000320797:E390Q	E	-	1	0	TUBD1	55295898	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.197000	0.77814	2.808000	0.96608	0.549000	0.68633	GAG	TUBD1	-	superfamily_Tub_FtsZ_C,prints_Delta_tubulin		0.413	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBD1	HGNC	protein_coding	OTTHUMT00000448815.1	C	NM_016261		57941116	-1	no_errors	ENST00000325752	ensembl	human	known	70_37	missense	SNP	1.000	G
TUBGCP6	85378	genome.wustl.edu	37	22	50667952	50667952	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:50667952C>T	ENST00000248846.5	-	4	1275	c.1171G>A	c.(1171-1173)Gag>Aag	p.E391K	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.E391K			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	391					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGATGCTCTCGGGAGACGCT	0.632																																																	0													45.0	33.0	37.0					22																	50667952		2200	4300	6500	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1171G>A	22.37:g.50667952C>T	ENSP00000248846:p.Glu391Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.E391K	ENST00000248846.5	37	c.1171	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789631	0.90367	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.08634	3.07;3.07	5.04	3.94	0.45596	.	0.581913	0.16979	N	0.191771	T	0.23886	0.0578	L	0.58101	1.795	0.47659	D	0.99948	D;D	0.76494	0.998;0.999	P;D	0.68039	0.89;0.955	T	0.00829	-1.1549	10	0.48119	T	0.1	.	15.4216	0.75015	0.0:0.8485:0.1515:0.0	.	391;391	B2RWN4;Q96RT7	.;GCP6_HUMAN	K	391	ENSP00000248846:E391K;ENSP00000397387:E391K	ENSP00000248846:E391K	E	-	1	0	TUBGCP6	49010079	1.000000	0.71417	0.997000	0.53966	0.931000	0.56810	5.367000	0.66127	2.338000	0.79540	0.462000	0.41574	GAG	TUBGCP6	-	pfam_Spc97_Spc98		0.632	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	C	NM_020461		50667952	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	0.995	T
TXLNA	200081	genome.wustl.edu	37	1	32655836	32655836	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:32655836G>C	ENST00000373609.1	+	5	1230	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	TXLNA_ENST00000373610.3_Missense_Mutation_p.E317Q			P40222	TXLNA_HUMAN	taxilin alpha	317					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGCAGTATGAGCTGCGCGA	0.532																																																	0													72.0	60.0	64.0					1																	32655836		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.949G>C	1.37:g.32655836G>C	ENSP00000362711:p.Glu317Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E317Q	ENST00000373609.1	37	c.949	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.268841	0.80469	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.35605	1.3;1.3	4.85	4.85	0.62838	.	0.048720	0.85682	D	0.000000	T	0.50599	0.1625	M	0.68952	2.095	0.58432	D	0.999999	P	0.46784	0.884	P	0.50537	0.643	T	0.55186	-0.8180	10	0.59425	D	0.04	-26.2381	18.3414	0.90307	0.0:0.0:1.0:0.0	.	317	P40222	TXLNA_HUMAN	Q	317	ENSP00000362712:E317Q;ENSP00000362711:E317Q	ENSP00000362711:E317Q	E	+	1	0	TXLNA	32428423	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.769000	0.85360	2.412000	0.81896	0.650000	0.86243	GAG	TXLNA	-	pfam_Taxilin_fam		0.532	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32655836	+1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	1.000	C
TXNDC5	81567	genome.wustl.edu	37	6	7886214	7886214	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:7886214G>A	ENST00000379757.4	-	8	1063	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Silent_p.F234F|TXNDC5_ENST00000539054.1_Silent_p.F270F	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	342	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					AAAACTTGATGAAGGTTATTC	0.423																																					Ovarian(119;1430 1625 3928 26125 34589)												0													163.0	132.0	142.0					6																	7886214		2203	4300	6503	SO:0001819	synonymous_variant	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1026C>T	6.37:g.7886214G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.F342	ENST00000379757.4	37	c.1026	CCDS4505.1	6																																																																																			TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin		0.423	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	G	NM_030810		7886214	-1	no_errors	ENST00000379757	ensembl	human	known	70_37	silent	SNP	0.772	A
UACA	55075	genome.wustl.edu	37	15	70959653	70959653	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:70959653G>A	ENST00000322954.6	-	16	3555	c.3370C>T	c.(3370-3372)Ctt>Ttt	p.L1124F	UACA_ENST00000379983.2_Missense_Mutation_p.L1111F|UACA_ENST00000539319.1_Missense_Mutation_p.L1015F|UACA_ENST00000560441.1_Missense_Mutation_p.L1109F	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1124					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTGCCATTAAGAGATTTTTTC	0.383																																																	0													112.0	114.0	114.0					15																	70959653		2199	4274	6473	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3370C>T	15.37:g.70959653G>A	ENSP00000314556:p.Leu1124Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.L1124F	ENST00000322954.6	37	c.3370	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356288	0.82243	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.46063	0.91;0.88;1.32	5.77	5.77	0.91146	.	0.000000	0.56097	D	0.000039	T	0.67618	0.2912	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.69045	-0.5249	10	0.72032	D	0.01	-10.4725	19.9915	0.97366	0.0:0.0:1.0:0.0	.	1015;1124;1124;1111	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	F	1124;1111;1015	ENSP00000314556:L1124F;ENSP00000369319:L1111F;ENSP00000438667:L1015F	ENSP00000314556:L1124F	L	-	1	0	UACA	68746707	1.000000	0.71417	0.918000	0.36340	0.974000	0.67602	7.001000	0.76297	2.723000	0.93209	0.655000	0.94253	CTT	UACA	-	NULL		0.383	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	G			70959653	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	1.000	A
UBE2I	7329	genome.wustl.edu	37	16	1358814	1358814	+	5'Flank	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:1358814G>A	ENST00000355803.4	+	0	0				UBE2I_ENST00000397515.2_5'Flank|UBE2I_ENST00000397514.3_5'Flank|UBE2I_ENST00000403747.2_5'Flank|UBE2I_ENST00000566587.1_5'Flank|UBE2I_ENST00000339021.3_3'UTR|UBE2I_ENST00000325437.5_5'Flank	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I						cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intracellular steroid hormone receptor signaling pathway (GO:0033145)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein sumoylation (GO:0016925)|regulation of receptor activity (GO:0010469)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|fibrillar center (GO:0001650)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|synapse (GO:0045202)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RING-like zinc finger domain binding (GO:0071535)|SUMO ligase activity (GO:0019789)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGGAGAGCCCGGGGGCCAGCA	0.761																																																	0																																										SO:0001631	upstream_gene_variant	7329			D45050	CCDS10433.1	16p13.3	2011-05-19	2011-05-19		ENSG00000103275	ENSG00000103275	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12485	protein-coding gene	gene with protein product		601661	"""ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)"", ""ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)"""			8565643	Standard	NM_003345		Approved	UBC9	uc002cld.2	P63279	OTTHUMG00000047845		16.37:g.1358814G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU69|P50550|Q15698|Q59GX1|Q86VB3	RNA	SNP	-	NULL	ENST00000355803.4	37	NULL	CCDS10433.1	16																																																																																			UBE2I	-	-		0.761	UBE2I-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBE2I	HGNC	protein_coding	OTTHUMT00000250317.2	G	NM_003345		1358814	+1	no_errors	ENST00000339021	ensembl	human	known	70_37	rna	SNP	0.000	A
UBE4B	10277	genome.wustl.edu	37	1	10163088	10163088	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:10163088G>A	ENST00000253251.8	+	5	1357	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	UBE4B_ENST00000377157.3_Missense_Mutation_p.R57Q|UBE4B_ENST00000343090.6_Missense_Mutation_p.R173Q					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGGAAGGACCGGGACAGAGAT	0.483																																																	0													110.0	104.0	106.0					1																	10163088		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.518G>A	1.37:g.10163088G>A	ENSP00000253251:p.Arg173Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R173Q	ENST00000253251.8	37	c.518	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583179	0.65992	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.40756	1.06;1.02;1.02	5.98	5.98	0.97165	.	0.056413	0.64402	D	0.000001	T	0.28001	0.0690	N	0.11064	0.09	0.35187	D	0.773057	B;B	0.21147	0.052;0.048	B;B	0.12837	0.005;0.008	T	0.20009	-1.0288	10	0.17369	T	0.5	-26.1165	20.4581	0.99154	0.0:0.0:1.0:0.0	.	173;173	O95155;O95155-2	UBE4B_HUMAN;.	Q	173;57;173	ENSP00000253251:R173Q;ENSP00000366362:R57Q;ENSP00000343001:R173Q	ENSP00000253251:R173Q	R	+	2	0	UBE4B	10085675	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.835000	0.69368	2.835000	0.97688	0.650000	0.86243	CGG	UBE4B	-	NULL		0.483	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	G	NM_006048		10163088	+1	no_errors	ENST00000343090	ensembl	human	known	70_37	missense	SNP	1.000	A
UBOX5	22888	genome.wustl.edu	37	20	3090896	3090896	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3090896G>C	ENST00000217173.2	-	5	1953	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	UBOX5-AS1_ENST00000454019.1_RNA|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.F440L	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						GCTCCTTTTTGAAGTAGGGAG	0.597																																																	0													67.0	77.0	74.0					20																	3090896		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.1482C>G	20.37:g.3090896G>C	ENSP00000217173:p.Phe494Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.F494L	ENST00000217173.2	37	c.1482	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533527	0.45073	.	.	ENSG00000185019	ENST00000217173;ENST00000348031	T;T	0.67345	-0.26;-0.19	5.04	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.259561	0.39687	U	0.001298	T	0.62696	0.2449	L	0.47716	1.5	0.36062	D	0.841556	B;B	0.21905	0.062;0.062	B;B	0.18561	0.02;0.022	T	0.65459	-0.6163	10	0.42905	T	0.14	-2.4142	18.7495	0.91809	0.0:0.0:1.0:0.0	.	440;494	Q86X87;O94941	.;RNF37_HUMAN	L	494;440	ENSP00000217173:F494L;ENSP00000311726:F440L	ENSP00000217173:F494L	F	-	3	2	UBOX5	3038896	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.390000	0.59646	2.497000	0.84241	0.561000	0.74099	TTC	UBOX5	-	pfscan_Znf_RING		0.597	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	G	NM_014948		3090896	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	missense	SNP	1.000	C
UBOX5	22888	genome.wustl.edu	37	20	3103193	3103193	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:3103193G>C	ENST00000217173.2	-	3	563	c.92C>G	c.(91-93)tCt>tGt	p.S31C	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.S31C	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						GAGATCTTCAGAGATGAGATT	0.348																																																	0													65.0	65.0	65.0					20																	3103193		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.92C>G	20.37:g.3103193G>C	ENSP00000217173:p.Ser31Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.S31C	ENST00000217173.2	37	c.92	CCDS13046.1	20	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465778	0.63513	.	.	ENSG00000185019	ENST00000217173;ENST00000348031;ENST00000449731	T;T;T	0.36157	1.27;1.27;1.27	5.04	5.04	0.67666	.	0.000000	0.85682	U	0.000000	T	0.63450	0.2512	M	0.79475	2.455	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.68880	-0.5292	10	0.87932	D	0	-9.2477	18.3967	0.90501	0.0:0.0:1.0:0.0	.	31;31;31	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	C	31	ENSP00000217173:S31C;ENSP00000311726:S31C;ENSP00000404364:S31C	ENSP00000217173:S31C	S	-	2	0	UBOX5	3051193	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.423000	0.66458	2.335000	0.79485	0.557000	0.71058	TCT	UBOX5	-	NULL		0.348	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2	G	NM_014948		3103193	-1	no_errors	ENST00000217173	ensembl	human	known	70_37	missense	SNP	1.000	C
UBR2	23304	genome.wustl.edu	37	6	42600322	42600322	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42600322G>A	ENST00000372899.1	+	12	1572	c.1314G>A	c.(1312-1314)atG>atA	p.M438I	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.M438I	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	438					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAACTTAATGAGCATTATCA	0.343																																																	0													50.0	51.0	50.0					6																	42600322		2203	4299	6502	SO:0001583	missense	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1314G>A	6.37:g.42600322G>A	ENSP00000361990:p.Met438Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.M438I	ENST00000372899.1	37	c.1314	CCDS4870.1	6	.	.	.	.	.	.	.	.	.	.	G	11.45	1.641963	0.29157	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	T;T	0.46063	0.88;0.88	5.33	5.33	0.75918	.	0.076041	0.85682	D	0.000000	T	0.22322	0.0538	L	0.35487	1.065	0.80722	D	1	B;B	0.21520	0.057;0.0	B;B	0.18561	0.022;0.001	T	0.02893	-1.1097	10	0.28530	T	0.3	-2.305	19.3867	0.94560	0.0:0.0:1.0:0.0	.	438;438	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	I	438	ENSP00000361990:M438I;ENSP00000361992:M438I	ENSP00000361990:M438I	M	+	3	0	UBR2	42708300	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.471000	0.97696	2.641000	0.89580	0.563000	0.77884	ATG	UBR2	-	NULL		0.343	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42600322	+1	no_errors	ENST00000372899	ensembl	human	known	70_37	missense	SNP	1.000	A
UBR2	23304	genome.wustl.edu	37	6	42600337	42600337	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:42600337G>A	ENST00000372899.1	+	12	1587	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Silent_p.K443K	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	443					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTATCATTAAGACTTTTATGG	0.373																																																	0													60.0	60.0	60.0					6																	42600337		2203	4299	6502	SO:0001819	synonymous_variant	23304			BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1329G>A	6.37:g.42600337G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.K443	ENST00000372899.1	37	c.1329	CCDS4870.1	6																																																																																			UBR2	-	NULL		0.373	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBR2	HGNC	protein_coding	OTTHUMT00000040558.2	G	NM_015255		42600337	+1	no_errors	ENST00000372899	ensembl	human	known	70_37	silent	SNP	0.995	A
UBR5	51366	genome.wustl.edu	37	8	103341421	103341421	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:103341421G>A	ENST00000520539.1	-	11	1829	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L	UBR5_ENST00000521922.1_Missense_Mutation_p.S402L|UBR5_ENST00000220959.4_Missense_Mutation_p.S408L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	408					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATGATGTAATGAAGGATTCTT	0.318																																					Ovarian(131;96 1741 5634 7352 27489)												0													166.0	169.0	168.0					8																	103341421		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1223C>T	8.37:g.103341421G>A	ENSP00000429084:p.Ser408Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.S408L	ENST00000520539.1	37	c.1223	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	g	18.73	3.686094	0.68157	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	D;D;D	0.81499	-1.5;-1.5;-1.5	4.94	4.94	0.65067	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.071677	0.64402	D	0.000019	T	0.74496	0.3724	L	0.34521	1.04	0.58432	D	0.999997	B;B	0.20261	0.043;0.043	B;B	0.17433	0.018;0.018	T	0.71807	-0.4481	10	0.59425	D	0.04	.	18.1526	0.89679	0.0:0.0:1.0:0.0	.	402;408	E7EMW7;O95071	.;UBR5_HUMAN	L	408;408;402	ENSP00000429084:S408L;ENSP00000220959:S408L;ENSP00000427819:S402L	ENSP00000220959:S408L	S	-	2	0	UBR5	103410597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.303000	0.77524	0.586000	0.80456	TCA	UBR5	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	G	NM_015902		103341421	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	A
UFD1L	7353	genome.wustl.edu	37	22	19459236	19459236	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:19459236C>T	ENST00000263202.10	-	4	394	c.265G>A	c.(265-267)Gag>Aag	p.E89K	UFD1L_ENST00000399523.1_Missense_Mutation_p.E89K|UFD1L_ENST00000360834.4_Missense_Mutation_p.E78K|UFD1L_ENST00000484101.1_5'UTR	NM_001035247.2|NM_005659.6	NP_001030324.2|NP_005650.2	Q92890	UFD1_HUMAN	ubiquitin fusion degradation 1 like (yeast)	89					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CAGATGCCCTCATCAGCCACA	0.547																																																	0													83.0	67.0	73.0					22																	19459236		2203	4300	6503	SO:0001583	missense	7353			AJ239058	CCDS13761.1, CCDS33600.1, CCDS33600.2	22q11.2	2014-05-02	2005-10-10		ENSG00000070010	ENSG00000070010			12520	protein-coding gene	gene with protein product		601754	"""ubiquitin fusion degradation 1-like"""			9063746	Standard	NM_005659		Approved	UFD1	uc002zpm.2	Q92890	OTTHUMG00000150130	ENST00000263202.10:c.265G>A	22.37:g.19459236C>T	ENSP00000263202:p.Glu89Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MW31|Q9Y5N0	Missense_Mutation	SNP	pfam_UFD1	p.E89K	ENST00000263202.10	37	c.265	CCDS13761.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.865121	0.97043	.	.	ENSG00000070010	ENST00000263202;ENST00000360834;ENST00000399523;ENST00000399525;ENST00000421968;ENST00000494054;ENST00000474226	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.77267	0.4105	M	0.84433	2.695	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.81914	0.995;0.99;0.99	T	0.79978	-0.1575	10	0.87932	D	0	.	19.9651	0.97262	0.0:1.0:0.0:0.0	.	89;89;89	B4E3I3;A8MW31;Q92890	.;.;UFD1_HUMAN	K	89;78;89;89;78;84;25	ENSP00000263202:E89K;ENSP00000354079:E78K;ENSP00000382439:E89K;ENSP00000406680:E78K;ENSP00000418390:E84K;ENSP00000418295:E25K	ENSP00000263202:E89K	E	-	1	0	UFD1L	17839236	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	GAG	UFD1L	-	pfam_UFD1		0.547	UFD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UFD1L	HGNC	protein_coding	OTTHUMT00000316460.6	C			19459236	-1	no_errors	ENST00000263202	ensembl	human	known	70_37	missense	SNP	1.000	T
UGGT2	55757	genome.wustl.edu	37	13	96506724	96506724	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:96506724C>T	ENST00000376747.3	-	35	4084	c.4014G>A	c.(4012-4014)gtG>gtA	p.V1338V		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1338	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GATCATGTCTCACAATCTAAA	0.343																																																	0													46.0	44.0	45.0					13																	96506724		2203	4300	6503	SO:0001819	synonymous_variant	55757			AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.4014G>A	13.37:g.96506724C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	pfam_UDP-g_GGtrans,pfam_Glyco_trans_8	p.V1338	ENST00000376747.3	37	c.4014	CCDS9480.1	13																																																																																			UGGT2	-	pfam_Glyco_trans_8		0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT2	HGNC	protein_coding	OTTHUMT00000045507.1	C	NM_020121		96506724	-1	no_errors	ENST00000376747	ensembl	human	known	70_37	silent	SNP	1.000	T
UGT1A1	54658	genome.wustl.edu	37	2	234669586	234669586	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:234669586C>T	ENST00000608383.1	+	1	653	c.653C>T	c.(652-654)tCa>tTa	p.S218L	UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S218L|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S218L|UGT1A5_ENST00000373414.3_Intron			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	218					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	ATTGCCTTTTCACAGAACTTT	0.522																																																	0													178.0	172.0	174.0					2																	234669586		2203	4300	6503	SO:0001583	missense	54658			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.653C>T	2.37:g.234669586C>T	ENSP00000476741:p.Ser218Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S218L	ENST00000608383.1	37	c.653	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	C	0.296	-0.976667	0.02215	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.58358	0.34;0.34	5.66	0.208	0.15221	.	.	.	.	.	T	0.18467	0.0443	N	0.00746	-1.225	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.012;0.001	T	0.29336	-1.0015	9	0.10377	T	0.69	.	8.7733	0.34747	0.0:0.4302:0.0:0.5698	.	218;218	A6NJC3;P22309	.;UD11_HUMAN	L	218	ENSP00000304845:S218L;ENSP00000353593:S218L	ENSP00000304845:S218L	S	+	2	0	UGT1A1	234334325	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.465000	0.06680	-0.027000	0.13873	0.655000	0.94253	TCA	UGT1A1	-	pfam_UDP_glucos_trans		0.522	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		C			234669586	+1	no_errors	ENST00000305208	ensembl	human	known	70_37	missense	SNP	0.000	T
ULK1	8408	genome.wustl.edu	37	12	132399633	132399633	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:132399633C>G	ENST00000321867.4	+	17	1730	c.1379C>G	c.(1378-1380)tCt>tGt	p.S460C		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	460					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TTCAGGTCCTCTGCCATCCGC	0.657																																																	0													30.0	30.0	30.0					12																	132399633		2200	4291	6491	SO:0001583	missense	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1379C>G	12.37:g.132399633C>G	ENSP00000324560:p.Ser460Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S460C	ENST00000321867.4	37	c.1379	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	C	8.828	0.939135	0.18281	.	.	ENSG00000177169	ENST00000321867	T	0.69561	-0.41	4.2	3.26	0.37387	.	0.867601	0.09903	N	0.740772	T	0.61060	0.2317	L	0.47716	1.5	0.20074	N	0.999932	B	0.06786	0.001	B	0.08055	0.003	T	0.55585	-0.8118	10	0.66056	D	0.02	-10.3903	12.2524	0.54605	0.0:0.7585:0.2415:0.0	.	460	O75385	ULK1_HUMAN	C	460	ENSP00000324560:S460C	ENSP00000324560:S460C	S	+	2	0	ULK1	130965586	0.965000	0.33210	0.854000	0.33618	0.477000	0.33069	1.783000	0.38664	2.213000	0.71641	0.391000	0.25812	TCT	ULK1	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.657	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	C			132399633	+1	no_errors	ENST00000321867	ensembl	human	known	70_37	missense	SNP	0.214	G
ULK4P2	100288380	genome.wustl.edu	37	15	30865020	30865020	+	RNA	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:30865020G>C	ENST00000569682.1	+	0	0									ULK4 pseudogene 2																		GTGGAGCCGCGAGAGCTCGGC	0.731																																																	0																																												100288380					15q13.2	2013-09-12	2013-09-12	2011-11-25	ENSG00000260128	ENSG00000260128			15776	pseudogene	pseudogene			"""family with sequence similarity 7, member A2"", ""unc-51-like kinase 4 (C. elegans) pseudogene 2"""	FAM7A2		11829490	Standard	NR_027470		Approved	D-X			OTTHUMG00000175653		15.37:g.30865020G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569682.1	37	NULL		15																																																																																			ULK4P2	-	-		0.731	ULK4P2-002	PUTATIVE	basic	processed_transcript	ULK4P2	HGNC	pseudogene	OTTHUMT00000430722.1	G			30865020	+1	no_errors	ENST00000561753	ensembl	human	putative	70_37	rna	SNP	0.002	C
UNC13B	10497	genome.wustl.edu	37	9	35291080	35291080	+	Intron	SNP	T	T	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:35291080T>G	ENST00000378495.3	+	8	748				UNC13B_ENST00000396787.1_Missense_Mutation_p.L181V|UNC13B_ENST00000378496.4_Intron	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)						apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGACCTATTTGGGCTGGGG	0.378																																																	0																																										SO:0001627	intron_variant	10497			AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.527-4613T>G	9.37:g.35291080T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYM8	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.L181V	ENST00000378495.3	37	c.541	CCDS6579.1	9	.	.	.	.	.	.	.	.	.	.	T	8.591	0.884677	0.17540	.	.	ENSG00000198722	ENST00000396787	D	0.83335	-1.71	5.64	2.98	0.34508	.	0.514798	0.19001	N	0.125342	T	0.79329	0.4427	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72200	-0.4362	7	0.28530	T	0.3	-2.0664	5.9648	0.19318	0.1263:0.1521:0.0:0.7216	.	.	.	.	V	181	ENSP00000380006:L181V	ENSP00000380006:L181V	L	+	1	2	UNC13B	35281080	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.877000	0.39598	0.970000	0.38263	0.379000	0.24179	TTG	UNC13B	-	NULL		0.378	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13B	HGNC	protein_coding	OTTHUMT00000052296.1	T	NM_006377		35291080	+1	no_errors	ENST00000396787	ensembl	human	known	70_37	missense	SNP	1.000	G
UNC45A	55898	genome.wustl.edu	37	15	91483039	91483039	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:91483039G>A	ENST00000418476.2	+	5	545	c.505G>A	c.(505-507)Gag>Aag	p.E169K	UNC45A_ENST00000394275.2_Missense_Mutation_p.E154K|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	169					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GAAGGGCACTGAGAAAAAGCA	0.527																																																	0													101.0	90.0	94.0					15																	91483039		2198	4298	6496	SO:0001583	missense	55898				CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.505G>A	15.37:g.91483039G>A	ENSP00000407487:p.Glu169Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E169K	ENST00000418476.2	37	c.505	CCDS10367.1	15	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680964	0.88542	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.52057	0.68;0.68	5.88	5.88	0.94601	Armadillo-like helical (1);Armadillo-type fold (1);	0.424190	0.26362	N	0.024811	T	0.54598	0.1868	L	0.55990	1.75	0.54753	D	0.999986	D;D;P;P	0.59357	0.958;0.985;0.842;0.842	B;P;B;B	0.48654	0.395;0.585;0.237;0.15	T	0.55068	-0.8198	10	0.54805	T	0.06	-38.1286	19.057	0.93069	0.0:0.0:1.0:0.0	.	169;161;169;154	B4DZL0;B4DLE6;Q9H3U1;A8K6F7	.;.;UN45A_HUMAN;.	K	154;169	ENSP00000377816:E154K;ENSP00000407487:E169K	ENSP00000377816:E154K	E	+	1	0	UNC45A	89284043	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	5.378000	0.66190	2.804000	0.96469	0.650000	0.86243	GAG	UNC45A	-	superfamily_ARM-type_fold		0.527	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	HGNC	protein_coding	OTTHUMT00000280406.2	G	NM_018671		91483039	+1	no_errors	ENST00000418476	ensembl	human	known	70_37	missense	SNP	0.998	A
UNG	7374	genome.wustl.edu	37	12	109541279	109541279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:109541279C>T	ENST00000242576.2	+	6	770	c.664C>T	c.(664-666)Caa>Taa	p.Q222*	UNG_ENST00000336865.2_Nonsense_Mutation_p.Q213*	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TCGTGCCCATCAAGCCAACTC	0.502								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																																								0													133.0	100.0	111.0					12																	109541279		2203	4300	6503	SO:0001587	stop_gained	7374	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.664C>T	12.37:g.109541279C>T	ENSP00000242576:p.Gln222*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse	p.Q222*	ENST00000242576.2	37	c.664	CCDS9124.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.270114	0.98175	.	.	ENSG00000076248	ENST00000242576;ENST00000336865;ENST00000537518	.	.	.	5.04	5.04	0.67666	.	0.232327	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-23.895	12.7952	0.57556	0.1635:0.8365:0.0:0.0	.	.	.	.	X	222;213;179	.	ENSP00000242576:Q222X	Q	+	1	0	UNG	108025662	0.997000	0.39634	1.000000	0.80357	0.955000	0.61496	3.546000	0.53656	2.500000	0.84329	0.650000	0.86243	CAA	UNG	-	pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Ura_DNA_glycsylse		0.502	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNG	HGNC	protein_coding	OTTHUMT00000403067.1	C	NM_080911		109541279	+1	no_errors	ENST00000242576	ensembl	human	known	70_37	nonsense	SNP	1.000	T
UPF2	26019	genome.wustl.edu	37	10	12077300	12077300	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:12077300G>C	ENST00000356352.2	-	1	596	c.123C>G	c.(121-123)atC>atG	p.I41M	UPF2_ENST00000397053.2_Missense_Mutation_p.I41M|UPF2_ENST00000357604.5_Missense_Mutation_p.I41M|UPF2_ENST00000460569.1_5'UTR			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	41	Glu/Lys-rich.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAGTGAGCTTGATATCGTCTT	0.448																																																	0													241.0	207.0	219.0					10																	12077300		2203	4300	6503	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.123C>G	10.37:g.12077300G>C	ENSP00000348708:p.Ile41Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.I41M	ENST00000356352.2	37	c.123	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139562	0.21205	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.45276	0.9;0.9;0.9	5.78	4.88	0.63580	.	0.557324	0.20301	N	0.095024	T	0.26557	0.0649	N	0.19112	0.55	0.22305	N	0.999217	B	0.16603	0.018	B	0.15870	0.014	T	0.13150	-1.0520	10	0.48119	T	0.1	.	7.1862	0.25801	0.0667:0.1229:0.683:0.1273	.	41	Q9HAU5	RENT2_HUMAN	M	41	ENSP00000348708:I41M;ENSP00000350221:I41M;ENSP00000380244:I41M	ENSP00000313617:I41M	I	-	3	3	UPF2	12117306	1.000000	0.71417	0.998000	0.56505	0.251000	0.25915	2.496000	0.45346	1.592000	0.50018	-0.216000	0.12614	ATC	UPF2	-	NULL		0.448	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	G			12077300	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	C
URB1	9875	genome.wustl.edu	37	21	33694162	33694162	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:33694162G>A	ENST00000382751.3	-	34	5548	c.5433C>T	c.(5431-5433)ttC>ttT	p.F1811F		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1811						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GGATGATGTGGAAGATGCCAC	0.557																																																	0													85.0	83.0	84.0					21																	33694162		692	1591	2283	SO:0001819	synonymous_variant	9875			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.5433C>T	21.37:g.33694162G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Silent	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.F1811	ENST00000382751.3	37	c.5433	CCDS46645.1	21																																																																																			URB1	-	superfamily_ARM-type_fold		0.557	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	G			33694162	-1	no_errors	ENST00000382751	ensembl	human	known	70_37	silent	SNP	1.000	A
URB1	9875	genome.wustl.edu	37	21	33694880	33694880	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:33694880G>A	ENST00000382751.3	-	33	5363	c.5248C>T	c.(5248-5250)Ctg>Ttg	p.L1750L		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1750						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						CTGACCTTCAGGTACATGTGC	0.547																																																	0													118.0	114.0	115.0					21																	33694880		692	1591	2283	SO:0001819	synonymous_variant	9875			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.5248C>T	21.37:g.33694880G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Silent	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.L1750	ENST00000382751.3	37	c.5248	CCDS46645.1	21																																																																																			URB1	-	superfamily_ARM-type_fold		0.547	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	G			33694880	-1	no_errors	ENST00000382751	ensembl	human	known	70_37	silent	SNP	0.944	A
USH2A	7399	genome.wustl.edu	37	1	215963499	215963499	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:215963499C>T	ENST00000307340.3	-	51	10470	c.10084G>A	c.(10084-10086)Gaa>Aaa	p.E3362K	USH2A_ENST00000366943.2_Missense_Mutation_p.E3362K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3362					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGAATAAGTTCAGTCTCACAG	0.388										HNSCC(13;0.011)																																							0													133.0	127.0	129.0					1																	215963499		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10084G>A	1.37:g.215963499C>T	ENSP00000305941:p.Glu3362Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.E3362K	ENST00000307340.3	37	c.10084	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.855133	0.71719	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.13089	2.63;2.62	5.76	5.76	0.90799	Fibronectin, type III (2);	0.000000	0.46145	D	0.000308	T	0.23054	0.0557	M	0.78916	2.43	0.42425	D	0.992658	P	0.38788	0.647	B	0.35470	0.203	T	0.04693	-1.0933	10	0.72032	D	0.01	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	3362	O75445	USH2A_HUMAN	K	3362	ENSP00000305941:E3362K;ENSP00000355910:E3362K	ENSP00000305941:E3362K	E	-	1	0	USH2A	214030122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.386000	0.52492	2.713000	0.92767	0.655000	0.94253	GAA	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		215963499	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216166366	216166366	+	Silent	SNP	C	C	T	rs375235470		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:216166366C>T	ENST00000307340.3	-	35	7187	c.6801G>A	c.(6799-6801)ccG>ccA	p.P2267P	USH2A_ENST00000366943.2_Silent_p.P2267P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2267	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTTACCATTCGGATATTCAG	0.413										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4406		0,0,2203	238.0	253.0	248.0		6801	4.2	1.0	1		248	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	USH2A	NM_206933.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		2267/5203	216166366	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6801G>A	1.37:g.216166366C>T		Somatic	2234	WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P2267	ENST00000307340.3	37	c.6801	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216166366	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	1.000	T
USH2A	7399	genome.wustl.edu	37	1	216462663	216462663	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:216462663C>G	ENST00000307340.3	-	11	2316	c.1930G>C	c.(1930-1932)Gat>Cat	p.D644H	USH2A_ENST00000366942.3_Missense_Mutation_p.D644H|USH2A_ENST00000366943.2_Missense_Mutation_p.D644H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	644	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.		D -> V (in dbSNP:rs1805048). {ECO:0000269|PubMed:10738000, ECO:0000269|PubMed:15025721, ECO:0000269|PubMed:15325563, ECO:0000269|PubMed:16098008, ECO:0000269|PubMed:17296898, ECO:0000269|PubMed:18273898}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAACTGTATCACAGTCACAG	0.433										HNSCC(13;0.011)																																							0													171.0	149.0	157.0					1																	216462663		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1930G>C	1.37:g.216462663C>G	ENSP00000305941:p.Asp644His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.D644H	ENST00000307340.3	37	c.1930	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963748	0.18583	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62941	-0.01;-0.01;-0.01	5.43	3.43	0.39272	EGF-like, laminin (3);	0.350840	0.20317	N	0.094708	T	0.48804	0.1520	N	0.25286	0.73	0.29862	N	0.82759	B;P	0.45634	0.066;0.863	B;P	0.50405	0.03;0.64	T	0.42137	-0.9469	10	0.16896	T	0.51	.	3.5487	0.07837	0.2915:0.435:0.0:0.2736	.	644;644	O75445-2;O75445	.;USH2A_HUMAN	H	644	ENSP00000305941:D644H;ENSP00000355910:D644H;ENSP00000355909:D644H	ENSP00000305941:D644H	D	-	1	0	USH2A	214529286	0.660000	0.27420	0.674000	0.29902	0.684000	0.39900	-0.010000	0.12743	1.401000	0.46761	0.557000	0.71058	GAT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	C	NM_007123		216462663	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.995	G
USHBP1	83878	genome.wustl.edu	37	19	17367422	17367422	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:17367422G>A	ENST00000252597.3	-	9	1501	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	AC010646.3_ENST00000594059.1_5'Flank|USHBP1_ENST00000431146.2_Missense_Mutation_p.S379L	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCAGGCTCTGAGAGAATCTT	0.622																																																	0													75.0	76.0	76.0					19																	17367422		2203	4300	6503	SO:0001583	missense	83878			AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1328C>T	19.37:g.17367422G>A	ENSP00000252597:p.Ser443Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain	p.S443L	ENST00000252597.3	37	c.1328	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	G	4.419	0.077414	0.08485	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.17691	2.27;2.26	4.69	0.913	0.19354	.	0.856210	0.10225	N	0.700410	T	0.11537	0.0281	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.35325	-0.9793	10	0.26408	T	0.33	-0.9148	4.5246	0.11975	0.113:0.0:0.507:0.38	.	379;443	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	L	443;379	ENSP00000252597:S443L;ENSP00000407902:S379L	ENSP00000252597:S443L	S	-	2	0	USHBP1	17228422	0.718000	0.27976	0.055000	0.19348	0.032000	0.12392	0.850000	0.27737	0.365000	0.24400	0.655000	0.94253	TCA	USHBP1	-	NULL		0.622	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	HGNC	protein_coding	OTTHUMT00000463328.1	G	NM_031941		17367422	-1	no_errors	ENST00000252597	ensembl	human	known	70_37	missense	SNP	0.028	A
USP20	10868	genome.wustl.edu	37	9	132641781	132641781	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:132641781G>A	ENST00000315480.4	+	24	2670				USP20_ENST00000372429.3_Intron|USP20_ENST00000472108.1_3'UTR|USP20_ENST00000358355.1_Intron			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20						endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCCCACTTGGGATGGCTCTGC	0.657																																																	0																																										SO:0001627	intron_variant	10868			AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.2513-71G>A	9.37:g.132641781G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	RNA	SNP	-	NULL	ENST00000315480.4	37	NULL	CCDS43892.1	9																																																																																			USP20	-	-		0.657	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	USP20	HGNC	protein_coding	OTTHUMT00000054604.2	G			132641781	+1	no_errors	ENST00000472108	ensembl	human	known	70_37	rna	SNP	0.000	A
USP24	23358	genome.wustl.edu	37	1	55586325	55586325	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:55586325G>A	ENST00000294383.6	-	38	4451	c.4452C>T	c.(4450-4452)ctC>ctT	p.L1484L	USP24_ENST00000407756.1_Silent_p.L1324L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1484					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCTGAGCCGTGAGGATTACGC	0.468																																																	0													84.0	76.0	79.0					1																	55586325		1991	4175	6166	SO:0001819	synonymous_variant	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4452C>T	1.37:g.55586325G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.L1484	ENST00000294383.6	37	c.4452	CCDS44154.2	1																																																																																			USP24	-	superfamily_ARM-type_fold		0.468	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	G			55586325	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	silent	SNP	0.987	A
USP28	57646	genome.wustl.edu	37	11	113674600	113674600	+	Splice_Site	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:113674600C>G	ENST00000003302.4	-	22	2727		c.e22-1		USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site|USP28_ENST00000260188.5_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CATGCCACTTCTGAAAAAGAA	0.313																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												0													63.0	63.0	63.0					11																	113674600		2201	4296	6497	SO:0001630	splice_region_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2659-1G>C	11.37:g.113674600C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJC0|B0YJC1|Q9P213	Splice_Site	SNP	-	e22-1	ENST00000003302.4	37	c.2659-1	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	26.3	4.719771	0.89205	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2618	0.98447	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP28	113179810	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.301000	0.78850	2.793000	0.96121	0.655000	0.94253	.	USP28	-	-		0.313	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	C		Intron	113674600	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	splice_site	SNP	1.000	G
USP32	84669	genome.wustl.edu	37	17	58288768	58288768	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:58288768T>A	ENST00000300896.4	-	20	2481	c.2287A>T	c.(2287-2289)Atc>Ttc	p.I763F	USP32_ENST00000592339.1_Missense_Mutation_p.I433F	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	763	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTCCCTGAGATAAAATACTGT	0.413																																																	0													99.0	96.0	97.0					17																	58288768		2202	4296	6498	SO:0001583	missense	84669			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2287A>T	17.37:g.58288768T>A	ENSP00000300896:p.Ile763Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.I763F	ENST00000300896.4	37	c.2287	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360280	0.41801	.	.	ENSG00000170832	ENST00000300896	T	0.29655	1.56	5.48	4.41	0.53225	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.098441	0.64402	D	0.000002	T	0.26231	0.0640	L	0.33245	0.995	0.80722	D	1	B	0.25441	0.126	B	0.32393	0.145	T	0.04621	-1.0938	10	0.41790	T	0.15	.	11.4727	0.50280	0.0:0.0707:0.0:0.9292	.	763	Q8NFA0	UBP32_HUMAN	F	763	ENSP00000300896:I763F	ENSP00000300896:I763F	I	-	1	0	USP32	55643550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.932000	0.56537	1.025000	0.39708	0.533000	0.62120	ATC	USP32	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.413	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	T	NM_032582		58288768	-1	no_errors	ENST00000300896	ensembl	human	known	70_37	missense	SNP	1.000	A
USP4	7375	genome.wustl.edu	37	3	49321551	49321551	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:49321551C>G	ENST00000265560.4	-	19	2455	c.2409G>C	c.(2407-2409)aaG>aaC	p.K803N	USP4_ENST00000351842.4_Missense_Mutation_p.K756N	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	803	USP.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GTTGATGCTTCTTACAGTTGG	0.517																																																	0													136.0	121.0	126.0					3																	49321551		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.2409G>C	3.37:g.49321551C>G	ENSP00000265560:p.Lys803Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19	p.K803N	ENST00000265560.4	37	c.2409	CCDS2793.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.375782|4.375782	0.82682|0.82682	.|.	.|.	ENSG00000114316|ENSG00000114316	ENST00000431357|ENST00000351842;ENST00000265560	.|T;T	.|0.02974	.|4.09;4.09	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.13415|0.13415	0.0325|0.0325	M|M	0.74647|0.74647	2.275|2.275	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.91635	.|0.989;0.999;0.993	T|T	0.00042|0.00042	-1.2230|-1.2230	5|10	.|0.62326	.|D	.|0.03	-26.0699|-26.0699	11.2037|11.2037	0.48756|0.48756	0.0:0.9153:0.0:0.0847|0.0:0.9153:0.0:0.0847	.|.	.|756;803;803	.|Q13107-2;Q13107;Q08AK7	.|.;UBP4_HUMAN;.	Q|N	542|756;803	.|ENSP00000341028:K756N;ENSP00000265560:K803N	.|ENSP00000265560:K803N	E|K	-|-	1|3	0|2	USP4|USP4	49296555|49296555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.359000|3.359000	0.52292|0.52292	2.514000|2.514000	0.84764|0.84764	0.655000|0.655000	0.94253|0.94253	GAA|AAG	USP4	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.517	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USP4	HGNC	protein_coding	OTTHUMT00000346069.1	C	NM_199443		49321551	-1	no_errors	ENST00000265560	ensembl	human	known	70_37	missense	SNP	1.000	G
USP53	54532	genome.wustl.edu	37	4	120192585	120192585	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:120192585C>T	ENST00000274030.6	+	16	2749	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	USP53_ENST00000450251.1_Nonsense_Mutation_p.Q524*	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGTTGTACCTCAGAGTCGAGC	0.408																																																	0													94.0	91.0	92.0					4																	120192585		1877	4094	5971	SO:0001587	stop_gained	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.1570C>T	4.37:g.120192585C>T	ENSP00000274030:p.Gln524*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q524*	ENST00000274030.6	37	c.1570	CCDS43265.1	4	.	.	.	.	.	.	.	.	.	.	C	38	7.041437	0.98021	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	.	.	.	5.84	4.99	0.66335	.	0.386605	0.27130	N	0.020796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-1.9465	14.9836	0.71330	0.0:0.8528:0.1472:0.0	.	.	.	.	X	524	.	ENSP00000274030:Q524X	Q	+	1	0	USP53	120412033	0.995000	0.38212	0.049000	0.19019	0.259000	0.26198	3.229000	0.51278	1.433000	0.47394	0.650000	0.86243	CAG	USP53	-	NULL		0.408	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP53	HGNC	protein_coding	OTTHUMT00000364564.2	C	XM_052597		120192585	+1	no_errors	ENST00000274030	ensembl	human	known	70_37	nonsense	SNP	0.300	T
USP6	9098	genome.wustl.edu	37	17	5072095	5072095	+	Missense_Mutation	SNP	G	G	C	rs369207088		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:5072095G>C	ENST00000574788.1	+	35	5492	c.3262G>C	c.(3262-3264)Gat>Cat	p.D1088H	USP6_ENST00000250066.6_Missense_Mutation_p.D1088H|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.D771H			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1088	USP.				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						ATTTGTAAATGATCAGTGGAT	0.373			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													80.0	94.0	89.0					17																	5072095		2203	4300	6503	SO:0001583	missense	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	ENST00000574788.1:c.3262G>C	17.37:g.5072095G>C	ENSP00000460380:p.Asp1088His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19	p.D1088H	ENST00000574788.1	37	c.3262	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042331	0.07452	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.31769	1.48;1.48	2.35	2.35	0.29111	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.044468	0.85682	D	0.000000	T	0.26557	0.0649	N	0.04508	-0.205	0.26518	N	0.974488	D;D	0.64830	0.975;0.994	P;D	0.64410	0.8;0.925	T	0.09335	-1.0679	10	0.37606	T	0.19	.	10.4068	0.44266	0.0:0.0:1.0:0.0	.	771;1088	P35125-2;P35125	.;UBP6_HUMAN	H	1088;771	ENSP00000250066:D1088H;ENSP00000305473:D771H	ENSP00000250066:D1088H	D	+	1	0	USP6	5012819	1.000000	0.71417	0.994000	0.49952	0.055000	0.15305	8.953000	0.93041	1.313000	0.45069	0.184000	0.17185	GAT	USP6	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.373	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	HGNC	protein_coding	OTTHUMT00000438990.1	G	NM_004505		5072095	+1	no_errors	ENST00000250066	ensembl	human	known	70_37	missense	SNP	1.000	C
USPL1	10208	genome.wustl.edu	37	13	31232305	31232305	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:31232305G>A	ENST00000255304.4	+	9	2433	c.2091G>A	c.(2089-2091)gaG>gaA	p.E697E		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	697					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TAGAAATTGAGAAGGACGCTC	0.343																																					Ovarian(60;318 1180 1554 28110 31601)												0													53.0	53.0	53.0					13																	31232305		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2091G>A	13.37:g.31232305G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.E697	ENST00000255304.4	37	c.2091	CCDS9336.1	13																																																																																			USPL1	-	NULL		0.343	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31232305	+1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A
UTRN	7402	genome.wustl.edu	37	6	145069393	145069393	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:145069393G>A	ENST00000367545.3	+	54	7951	c.7951G>A	c.(7951-7953)Gag>Aag	p.E2651K	UTRN_ENST00000367526.4_Missense_Mutation_p.E206K	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2651					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATTAACTCCTGAGGAGAGAGC	0.353																																																	0													35.0	35.0	35.0					6																	145069393		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7951G>A	6.37:g.145069393G>A	ENSP00000356515:p.Glu2651Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E2651K	ENST00000367545.3	37	c.7951	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941433	0.92526	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.63096	-0.02;3.39	5.62	5.62	0.85841	.	0.000000	0.49916	D	0.000124	T	0.59810	0.2221	L	0.58101	1.795	0.54753	D	0.999987	P	0.41624	0.757	P	0.45856	0.495	T	0.61806	-0.6987	10	0.48119	T	0.1	.	19.6637	0.95885	0.0:0.0:1.0:0.0	.	2651	P46939	UTRO_HUMAN	K	2651;206	ENSP00000356515:E2651K;ENSP00000356496:E206K	ENSP00000356496:E206K	E	+	1	0	UTRN	145111086	1.000000	0.71417	0.995000	0.50966	0.957000	0.61999	9.476000	0.97823	2.646000	0.89796	0.467000	0.42956	GAG	UTRN	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	G			145069393	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	1.000	A
VAC14	55697	genome.wustl.edu	37	16	70765451	70765451	+	Missense_Mutation	SNP	C	C	G	rs142435180		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70765451C>G	ENST00000261776.5	-	14	1868	c.1608G>C	c.(1606-1608)aaG>aaC	p.K536N		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	536					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCTGAATCTCTTGAGAAGGT	0.512																																																	0													119.0	121.0	121.0					16																	70765451		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1608G>C	16.37:g.70765451C>G	ENSP00000261776:p.Lys536Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.K536N	ENST00000261776.5	37	c.1608	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	13.87	2.365556	0.41902	.	.	ENSG00000103043	ENST00000261776	T	0.66995	-0.24	5.51	4.55	0.56014	Armadillo-like helical (1);Armadillo-type fold (1);	0.043260	0.85682	D	0.000000	T	0.54303	0.1850	L	0.52126	1.63	0.80722	D	1	P;B	0.39576	0.679;0.005	B;B	0.36134	0.218;0.008	T	0.50524	-0.8818	10	0.10902	T	0.67	-22.8277	10.2594	0.43416	0.0:0.8501:0.0:0.1499	.	466;536	B4DMP4;Q08AM6	.;VAC14_HUMAN	N	536	ENSP00000261776:K536N	ENSP00000261776:K536N	K	-	3	2	VAC14	69322952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.000000	0.29770	1.336000	0.45506	0.655000	0.94253	AAG	VAC14	-	superfamily_ARM-type_fold		0.512	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70765451	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	1.000	G
VAC14	55697	genome.wustl.edu	37	16	70796924	70796924	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70796924C>G	ENST00000261776.5	-	11	1425	c.1165G>C	c.(1165-1167)Gaa>Caa	p.E389Q	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	389					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GGGGCTCTTTCAGTGCTGTGG	0.587																																																	0													95.0	75.0	82.0					16																	70796924		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1165G>C	16.37:g.70796924C>G	ENSP00000261776:p.Glu389Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.E389Q	ENST00000261776.5	37	c.1165	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036411	0.75617	.	.	ENSG00000103043	ENST00000261776	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.249235	0.46758	D	0.000273	T	0.57242	0.2040	L	0.56769	1.78	0.80722	D	1	B	0.20887	0.049	B	0.14023	0.01	T	0.52170	-0.8611	9	0.16896	T	0.51	-4.565	15.2986	0.73928	0.0:0.8606:0.1394:0.0	.	389	Q08AM6	VAC14_HUMAN	Q	389	.	ENSP00000261776:E389Q	E	-	1	0	VAC14	69354425	1.000000	0.71417	0.203000	0.23512	0.959000	0.62525	5.696000	0.68287	2.677000	0.91161	0.563000	0.77884	GAA	VAC14	-	superfamily_ARM-type_fold		0.587	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70796924	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	0.981	G
VAC14	55697	genome.wustl.edu	37	16	70817361	70817361	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:70817361C>G	ENST00000261776.5	-	6	951	c.691G>C	c.(691-693)Gag>Cag	p.E231Q		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	231					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTGCGAATCTCTTTGCCATTG	0.572																																																	0													74.0	73.0	74.0					16																	70817361		2198	4300	6498	SO:0001583	missense	55697			AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.691G>C	16.37:g.70817361C>G	ENSP00000261776:p.Glu231Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Missense_Mutation	SNP	pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold	p.E231Q	ENST00000261776.5	37	c.691	CCDS10896.1	16	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535214	0.85812	.	.	ENSG00000103043	ENST00000261776	T	0.68479	-0.33	5.75	4.8	0.61643	Armadillo-like helical (1);Armadillo-type fold (1);	0.044539	0.85682	D	0.000000	T	0.77512	0.4141	M	0.88377	2.95	0.80722	D	1	D	0.57571	0.98	P	0.49528	0.614	T	0.82894	-0.0231	10	0.72032	D	0.01	-29.1086	14.2018	0.65710	0.0:0.928:0.0:0.0719	.	231	Q08AM6	VAC14_HUMAN	Q	231	ENSP00000261776:E231Q	ENSP00000261776:E231Q	E	-	1	0	VAC14	69374862	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.469000	0.80959	1.435000	0.47434	0.655000	0.94253	GAG	VAC14	-	superfamily_ARM-type_fold		0.572	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAC14	HGNC	protein_coding	OTTHUMT00000268973.3	C	NM_018052		70817361	-1	no_errors	ENST00000261776	ensembl	human	known	70_37	missense	SNP	1.000	G
VASH1	22846	genome.wustl.edu	37	14	77242382	77242382	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:77242382G>C	ENST00000167106.4	+	5	1311	c.678G>C	c.(676-678)ctG>ctC	p.L226L	VASH1_ENST00000556038.1_3'UTR|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000554743.1_5'Flank|RP11-488C13.6_ENST00000556368.1_RNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	226					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GCGAGGACCTGATGTACAAGC	0.647																																																	0													33.0	31.0	31.0					14																	77242382		2201	4299	6500	SO:0001819	synonymous_variant	22846			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.678G>C	14.37:g.77242382G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96H02|Q9UBF4|Q9Y629	Silent	SNP	NULL	p.L226	ENST00000167106.4	37	c.678	CCDS9851.1	14																																																																																			VASH1	-	NULL		0.647	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	HGNC	protein_coding	OTTHUMT00000413706.1	G	NM_014909		77242382	+1	no_errors	ENST00000167106	ensembl	human	known	70_37	silent	SNP	1.000	C
VCAN	1462	genome.wustl.edu	37	5	82834631	82834631	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:82834631G>A	ENST00000265077.3	+	8	6374	c.5809G>A	c.(5809-5811)Gac>Aac	p.D1937N	VCAN_ENST00000343200.5_Missense_Mutation_p.D950N|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1937	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTTCAGTGGTGACTTTAGAGA	0.438																																																	0													82.0	84.0	83.0					5																	82834631		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5809G>A	5.37:g.82834631G>A	ENSP00000265077:p.Asp1937Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.D1937N	ENST00000265077.3	37	c.5809	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876633	0.91664	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.86432	-2.09;-2.12;2.96	5.81	5.81	0.92471	.	0.206931	0.34555	N	0.003874	D	0.91449	0.7301	M	0.71581	2.175	0.80722	D	1	D;D	0.56746	0.977;0.961	P;P	0.55923	0.787;0.617	D	0.91178	0.4974	10	0.51188	T	0.08	.	17.8631	0.88787	0.0:0.0:1.0:0.0	.	950;1937	P13611-2;P13611	.;CSPG2_HUMAN	N	1937;950;950	ENSP00000265077:D1937N;ENSP00000340062:D950N;ENSP00000426251:D950N	ENSP00000265077:D1937N	D	+	1	0	VCAN	82870387	0.830000	0.29337	0.999000	0.59377	0.803000	0.45373	1.302000	0.33459	2.759000	0.94783	0.591000	0.81541	GAC	VCAN	-	NULL		0.438	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	G	NM_004385		82834631	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.998	A
VGF	7425	genome.wustl.edu	37	7	100807818	100807818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:100807818G>A	ENST00000249330.2	-	2	546	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	VGF_ENST00000445482.2_Nonsense_Mutation_p.Q103*	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	103					defense response to bacterium (GO:0042742)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|ovarian follicle development (GO:0001541)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to dietary excess (GO:0002021)|response to insulin (GO:0032868)|sexual reproduction (GO:0019953)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCCCCTGCTGGGAGCCGCTT	0.736																																																	0													7.0	9.0	8.0					7																	100807818		2095	4093	6188	SO:0001587	stop_gained	7425			Y12661	CCDS5712.1	7q22	2008-07-18			ENSG00000128564	ENSG00000128564			12684	protein-coding gene	gene with protein product	"""neuro-endocrine specific protein VGF"""	602186				9344675	Standard	NM_003378		Approved		uc003uxx.4	O15240	OTTHUMG00000157109	ENST00000249330.2:c.307C>T	7.37:g.100807818G>A	ENSP00000249330:p.Gln103*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UDW8	Nonsense_Mutation	SNP	NULL	p.Q103*	ENST00000249330.2	37	c.307	CCDS5712.1	7	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622229	0.46840	.	.	ENSG00000128564	ENST00000249330;ENST00000448792;ENST00000445482	.	.	.	4.67	3.77	0.43336	.	0.145191	0.28465	N	0.015243	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.8322	9.8069	0.40799	0.0:0.0:0.7949:0.2051	.	.	.	.	X	103	.	ENSP00000249330:Q103X	Q	-	1	0	VGF	100594538	0.999000	0.42202	0.968000	0.41197	0.095000	0.18619	1.740000	0.38228	1.165000	0.42670	0.555000	0.69702	CAG	VGF	-	NULL		0.736	VGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VGF	HGNC	protein_coding	OTTHUMT00000347462.1	G	NM_003378		100807818	-1	no_errors	ENST00000249330	ensembl	human	known	70_37	nonsense	SNP	0.164	A
VIM	7431	genome.wustl.edu	37	10	17271880	17271880	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:17271880G>C	ENST00000224237.5	+	1	604	c.459G>C	c.(457-459)gaG>gaC	p.E153D	VIM_ENST00000544301.1_Missense_Mutation_p.E153D|VIM_ENST00000485947.1_3'UTR|VIM-AS1_ENST00000437232.1_RNA|VIM-AS1_ENST00000605833.1_RNA			P08670	VIME_HUMAN	vimentin	153	Linker 1.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACGAGGAGGAGATGCGGGAGC	0.657																																																	0													20.0	21.0	21.0					10																	17271880		2198	4298	6496	SO:0001583	missense	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.459G>C	10.37:g.17271880G>C	ENSP00000224237:p.Glu153Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin	p.E153D	ENST00000224237.5	37	c.459	CCDS7120.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.070996	0.93950	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.90324	-2.65;-2.65	5.14	4.23	0.50019	Filament (1);	0.000000	0.47093	D	0.000248	D	0.95382	0.8501	M	0.92169	3.28	0.80722	D	1	B;B;D;D;B	0.63880	0.347;0.174;0.971;0.993;0.347	B;B;P;P;B	0.60541	0.241;0.09;0.791;0.876;0.241	D	0.94974	0.8119	10	0.38643	T	0.18	.	13.3832	0.60780	0.0764:0.0:0.9236:0.0	.	153;140;140;153;153	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	D	153;153;140	ENSP00000446007:E153D;ENSP00000224237:E153D	ENSP00000224237:E153D	E	+	3	2	VIM	17311886	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.677000	0.74503	1.161000	0.42604	0.551000	0.68910	GAG	VIM	-	pfam_F		0.657	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	G	NM_003380		17271880	+1	no_errors	ENST00000224237	ensembl	human	known	70_37	missense	SNP	1.000	C
VN1R1	57191	genome.wustl.edu	37	19	57967211	57967211	+	Missense_Mutation	SNP	C	C	G	rs145243348	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57967211C>G	ENST00000321039.3	-	1	643	c.644G>C	c.(643-645)aGa>aCa	p.R215T	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	215					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGCTAAATCTCTTTGATGC	0.388																																																	0													106.0	100.0	102.0					19																	57967211		2203	4300	6503	SO:0001583	missense	57191			AF255342	CCDS12951.1	19q13.4	2012-08-22	2003-01-15		ENSG00000178201	ENSG00000178201		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	13548	protein-coding gene	gene with protein product		605234	"""vomeronasal olfactory receptor, (chromosome 19) subtype I, member 1"""	VNR19I1		10973240	Standard	NM_020633		Approved	V1RL1, ZVNR1, ZVNH1	uc002qos.2	Q9GZP7		ENST00000321039.3:c.644G>C	19.37:g.57967211C>G	ENSP00000322339:p.Arg215Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSV5|Q7Z5H8|Q7Z5H9	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1	p.R215T	ENST00000321039.3	37	c.644	CCDS12951.1	19	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.865502	0.00547	.	.	ENSG00000178201	ENST00000321039	T	0.36520	1.25	3.69	-7.39	0.01402	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.12390	0.0301	N	0.11313	0.125	0.09310	N	1	B	0.27351	0.176	B	0.25140	0.058	T	0.16571	-1.0398	9	0.19590	T	0.45	.	1.558	0.02589	0.2997:0.1645:0.0988:0.437	.	215	Q9GZP7	VN1R1_HUMAN	T	215	ENSP00000322339:R215T	ENSP00000322339:R215T	R	-	2	0	VN1R1	62659023	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.595000	0.05727	-2.603000	0.00450	-5.173000	0.00001	AGA	VN1R1	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.388	VN1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R1	HGNC	protein_coding	OTTHUMT00000466464.1	C	NM_020633		57967211	-1	no_errors	ENST00000321039	ensembl	human	known	70_37	missense	SNP	0.000	G
VOPP1	81552	genome.wustl.edu	37	7	55540725	55540725	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:55540725C>T	ENST00000285279.5	-	5	542	c.342G>A	c.(340-342)ccG>ccA	p.P114P	VOPP1_ENST00000428648.1_Silent_p.P47P|VOPP1_ENST00000428097.1_Silent_p.P47P|VOPP1_ENST00000545390.1_Silent_p.P111P|VOPP1_ENST00000454227.1_Silent_p.P51P|VOPP1_ENST00000418904.1_Silent_p.P97P|VOPP1_ENST00000427700.1_Silent_p.P112P|VOPP1_ENST00000433959.1_Silent_p.P105P|VOPP1_ENST00000453256.1_Silent_p.P47P	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	114	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						AGGGCGGCCCCGGCTGCTGGG	0.607																																																	0													32.0	37.0	36.0					7																	55540725		1898	4100	5998	SO:0001819	synonymous_variant	81552				CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"""Glioblastoma-amplified secreted protein"", ""EGFR-coamplified and overexpressed protein"""	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.342G>A	7.37:g.55540725C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Silent	SNP	NULL	p.P114	ENST00000285279.5	37	c.342	CCDS47588.1	7																																																																																			VOPP1	-	NULL		0.607	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VOPP1	HGNC	protein_coding	OTTHUMT00000343074.1	C	NM_030796		55540725	-1	no_errors	ENST00000285279	ensembl	human	known	70_37	silent	SNP	0.999	T
VPS13B	157680	genome.wustl.edu	37	8	100147896	100147896	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:100147896G>C	ENST00000358544.2	+	11	1609	c.1498G>C	c.(1498-1500)Gat>Cat	p.D500H	VPS13B_ENST00000355155.1_Missense_Mutation_p.D500H|VPS13B_ENST00000357162.2_Missense_Mutation_p.D500H|VPS13B_ENST00000395996.1_Missense_Mutation_p.D500H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	500					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCATTGTTTGATTACCGAAG	0.333																																					Colon(161;2205 2542 7338 31318)												0													128.0	114.0	119.0					8																	100147896		2202	4300	6502	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1498G>C	8.37:g.100147896G>C	ENSP00000351346:p.Asp500His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.D500H	ENST00000358544.2	37	c.1498	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294020	0.81025	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	D;D;D;T	0.86694	-2.16;-1.6;-1.6;-1.27	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	D	0.90553	0.7039	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;0.999;1.0	D	0.90860	0.4738	10	0.54805	T	0.06	.	19.4358	0.94794	0.0:0.0:1.0:0.0	.	500;500;500;500	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;VP13B_HUMAN;.;.	H	500	ENSP00000347281:D500H;ENSP00000349685:D500H;ENSP00000351346:D500H;ENSP00000379318:D500H	ENSP00000347281:D500H	D	+	1	0	VPS13B	100217072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.111000	0.94308	2.663000	0.90544	0.655000	0.94253	GAT	VPS13B	-	NULL		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100147896	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS39	23339	genome.wustl.edu	37	15	42483732	42483732	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:42483732C>G	ENST00000348544.4	-	4	198	c.199G>C	c.(199-201)Gag>Cag	p.E67Q	VPS39_ENST00000318006.5_Missense_Mutation_p.E56Q|VPS39_ENST00000568357.1_5'UTR			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	67	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-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;3.05e-06)		TTGGATTTCTCTAGTGTCACT	0.368																																																	0													121.0	117.0	118.0					15																	42483732		2203	4299	6502	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.199G>C	15.37:g.42483732C>G	ENSP00000335193:p.Glu67Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.E67Q	ENST00000348544.4	37	c.199	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119727	0.77323	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.17528	2.27;2.27	5.86	5.86	0.93980	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	M	0.71581	2.175	0.80722	D	1	P;P	0.46784	0.839;0.884	P;B	0.46510	0.519;0.385	T	0.03795	-1.1003	10	0.12766	T	0.61	-25.9882	20.1859	0.98214	0.0:1.0:0.0:0.0	.	67;56	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Q	56;67	ENSP00000326534:E56Q;ENSP00000335193:E67Q	ENSP00000326534:E56Q	E	-	1	0	VPS39	40271024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.763000	0.85283	2.777000	0.95525	0.591000	0.81541	GAG	VPS39	-	pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron		0.368	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	C	NM_015289		42483732	-1	no_errors	ENST00000348544	ensembl	human	known	70_37	missense	SNP	1.000	G
VPS52	6293	genome.wustl.edu	37	6	33218546	33218546	+	3'UTR	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:33218546G>T	ENST00000445902.2	-	0	2462				HCG25_ENST00000450514.1_RNA|HCG25_ENST00000427196.1_RNA|HCG25_ENST00000422366.1_RNA|VPS52_ENST00000482399.1_3'UTR|HCG25_ENST00000442228.1_RNA|VPS52_ENST00000436044.2_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)						ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TACCCCAGGTGAAGAAGGGTA	0.547																																																	0																																										SO:0001624	3_prime_UTR_variant	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.*72C>A	6.37:g.33218546G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	RNA	SNP	-	NULL	ENST00000445902.2	37	NULL	CCDS4770.2	6																																																																																			VPS52	-	-		0.547	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	G	NM_022553		33218546	-1	no_errors	ENST00000478934	ensembl	human	known	70_37	rna	SNP	0.285	T
VWA2	340706	genome.wustl.edu	37	10	116050048	116050048	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:116050048G>C	ENST00000392982.3	+	13	2422	c.2172G>C	c.(2170-2172)gaG>gaC	p.E724D				Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	724	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCATGAATGAGGGCAGCTGCG	0.602																																																	0																																										SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.2172G>C	10.37:g.116050048G>C	ENSP00000376708:p.Glu724Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.E724D	ENST00000392982.3	37	c.2172		10	.	.	.	.	.	.	.	.	.	.	G	2.834	-0.241880	0.05906	.	.	ENSG00000165816	ENST00000392982	D	0.91068	-2.78	5.65	2.52	0.30459	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.324156	0.33040	N	0.005355	T	0.80423	0.4620	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.67635	-0.5620	9	0.16420	T	0.52	.	6.5026	0.22178	0.1704:0.0:0.6242:0.2053	.	724	Q5GFL6	VWA2_HUMAN	D	724	ENSP00000376708:E724D	ENSP00000376708:E724D	E	+	3	2	VWA2	116040038	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	0.966000	0.29331	0.732000	0.32470	-0.133000	0.14855	GAG	VWA2	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.602	VWA2-001	KNOWN	basic|appris_principal	protein_coding	VWA2	HGNC	protein_coding	OTTHUMT00000050456.3	G	NM_198496		116050048	+1	no_errors	ENST00000392982	ensembl	human	known	70_37	missense	SNP	0.995	C
VWA5B1	127731	genome.wustl.edu	37	1	20645915	20645915	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:20645915G>A	ENST00000375079.2	+	7	1078	c.882G>A	c.(880-882)atG>atA	p.M294I	VWA5B1_ENST00000289815.8_Missense_Mutation_p.M294I|VWA5B1_ENST00000289825.4_Missense_Mutation_p.M11I|RP4-745E8.2_ENST00000444923.1_RNA|VWA5B1_ENST00000375083.4_Missense_Mutation_p.M294I	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	294						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						AAGGGGACATGACCCTGGGAG	0.517																																																	0													76.0	75.0	75.0					1																	20645915		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.882G>A	1.37:g.20645915G>A	ENSP00000364220:p.Met294Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.M294I	ENST00000375079.2	37	c.882		1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.655647	0.88056	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000289825;ENST00000375079	T;T;T;T	0.05996	3.78;3.51;3.36;3.76	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	M	0.73962	2.25	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.80764	0.976;0.991;0.994	T	0.00298	-1.1837	10	0.36615	T	0.2	-21.8215	17.9109	0.88934	0.0:0.0:1.0:0.0	.	294;294;11	Q5TIE3;Q5TIE3-2;Q5TIE3-3	VW5B1_HUMAN;.;.	I	294;294;294;11;294	ENSP00000289815:M294I;ENSP00000364224:M294I;ENSP00000289825:M11I;ENSP00000364220:M294I	ENSP00000289815:M294I	M	+	3	0	VWA5B1	20518502	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.206000	0.95056	2.581000	0.87130	0.491000	0.48974	ATG	VWA5B1	-	NULL		0.517	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	G	XM_001722222		20645915	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	missense	SNP	1.000	A
WASF1	8936	genome.wustl.edu	37	6	110423276	110423276	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:110423276G>C	ENST00000392589.1	-	10	1873	c.1037C>G	c.(1036-1038)tCa>tGa	p.S346*	WASF1_ENST00000359451.2_Nonsense_Mutation_p.S346*|WASF1_ENST00000392587.2_Nonsense_Mutation_p.S346*|WASF1_ENST00000392588.1_Nonsense_Mutation_p.S346*|WASF1_ENST00000392586.1_Nonsense_Mutation_p.S346*	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	346					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGAGGAGTTGAAGTCATTGA	0.567																																																	0													116.0	113.0	114.0					6																	110423276		2203	4300	6503	SO:0001587	stop_gained	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1037C>G	6.37:g.110423276G>C	ENSP00000376368:p.Ser346*	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5F2|Q5SZK7	Nonsense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.S346*	ENST00000392589.1	37	c.1037	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.510449	0.98329	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	.	.	.	5.59	5.59	0.84812	.	0.687681	0.14292	N	0.328851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.638	0.95744	0.0:0.0:1.0:0.0	.	.	.	.	X	346	.	ENSP00000352425:S346X	S	-	2	0	WASF1	110529969	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.589000	0.74080	2.646000	0.89796	0.539000	0.68188	TCA	WASF1	-	NULL		0.567	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	G	NM_003931		110423276	-1	no_errors	ENST00000359451	ensembl	human	known	70_37	nonsense	SNP	1.000	C
WBP1	23559	genome.wustl.edu	37	2	74686223	74686223	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:74686223C>G	ENST00000233615.2	+	1	343				WBP1_ENST00000409737.1_Intron|WBP1_ENST00000494741.1_Intron|WBP1_ENST00000393972.3_Missense_Mutation_p.L57V	NM_012477.3	NP_036609.1	Q96G27	WBP1_HUMAN	WW domain binding protein 1								WW domain binding (GO:0050699)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GCAATCCCATCTGGTTGGGAG	0.592																																																	0																																										SO:0001627	intron_variant	23559			U79457	CCDS1943.1	2p12	2012-04-20			ENSG00000239779	ENSG00000239779			12737	protein-coding gene	gene with protein product		606961				7644498	Standard	NM_012477		Approved	WBP-1	uc002slj.2	Q96G27	OTTHUMG00000129958	ENST00000233615.2:c.69+425C>G	2.37:g.74686223C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE02|O95637	Missense_Mutation	SNP	pfam_Uncharacterised_WW-bd	p.L57V	ENST00000233615.2	37	c.169	CCDS1943.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.61|11.61	1.689166|1.689166	0.29962|0.29962	.|.	.|.	ENSG00000239779|ENSG00000239779	ENST00000428943|ENST00000393972	.|.	.|.	.|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	.|.	.|.	.|.	.|.	T|T	0.65533|0.65533	0.2700|0.2700	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.64947|0.64947	-0.6287|-0.6287	5|5	0.72032|0.45353	D|T	0.01|0.12	-3.7548|-3.7548	12.43|12.43	0.55569|0.55569	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	M|V	75|57	.|.	ENSP00000408816:I75M|ENSP00000377542:L57V	I|L	+|+	3|1	3|2	WBP1|WBP1	74539731|74539731	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	3.018000|3.018000	0.49625|0.49625	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	ATC|CTG	WBP1	-	NULL		0.592	WBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WBP1	HGNC	protein_coding	OTTHUMT00000252221.2	C	NM_012477		74686223	+1	no_errors	ENST00000393972	ensembl	human	novel	70_37	missense	SNP	1.000	G
WBSCR17	64409	genome.wustl.edu	37	7	71130547	71130547	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:71130547C>G	ENST00000333538.5	+	7	1866	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	411					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GATTACAAGTCTCATGTGTAC	0.483																																																	0													106.0	87.0	93.0					7																	71130547		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1232C>G	7.37:g.71130547C>G	ENSP00000329654:p.Ser411Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.S411C	ENST00000333538.5	37	c.1232	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868959	0.72065	.	.	ENSG00000185274	ENST00000333538	T	0.69306	-0.39	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	M	0.84433	2.695	0.53005	D	0.999967	D	0.89917	1.0	D	0.79784	0.993	D	0.85097	0.0955	10	0.72032	D	0.01	.	14.8307	0.70146	0.0:0.7449:0.2551:0.0	.	411	Q6IS24	GLTL3_HUMAN	C	411	ENSP00000329654:S411C	ENSP00000329654:S411C	S	+	2	0	WBSCR17	70768483	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	3.233000	0.51311	2.770000	0.95276	0.563000	0.77884	TCT	WBSCR17	-	NULL		0.483	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	C	NM_022479		71130547	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	G
WBSCR17	64409	genome.wustl.edu	37	7	71177239	71177239	+	3'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:71177239C>G	ENST00000333538.5	+	0	2539				WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17						protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGCAGGTGCTCGATGGGCCCC	0.677																																																	0																																										SO:0001624	3_prime_UTR_variant	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.*108C>G	7.37:g.71177239C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFV9|Q9NTA8	RNA	SNP	-	NULL	ENST00000333538.5	37	NULL	CCDS5540.1	7																																																																																			WBSCR17	-	-		0.677	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	C	NM_022479		71177239	+1	no_errors	ENST00000467723	ensembl	human	known	70_37	rna	SNP	0.011	G
WDFY3	23001	genome.wustl.edu	37	4	85614120	85614120	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:85614120G>C	ENST00000295888.4	-	59	9374	c.8967C>G	c.(8965-8967)atC>atG	p.I2989M	WDFY3_ENST00000322366.6_Missense_Mutation_p.I2972M	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2989	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTAGGACAGAGATTCCTGCAT	0.368																																																	0													127.0	123.0	124.0					4																	85614120		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8967C>G	4.37:g.85614120G>C	ENSP00000295888:p.Ile2989Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I2989M	ENST00000295888.4	37	c.8967	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701651	0.15172	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.65549	-0.16;-0.15;-0.08	5.22	2.55	0.30701	.	1.022390	0.07764	N	0.950543	T	0.36635	0.0974	N	0.04508	-0.205	0.21861	N	0.999504	B	0.02656	0.0	B	0.04013	0.001	T	0.23691	-1.0181	10	0.22706	T	0.39	.	5.7243	0.18004	0.2239:0.2869:0.4892:0.0	.	2989	Q8IZQ1	WDFY3_HUMAN	M	2972;2989;592	ENSP00000318466:I2972M;ENSP00000295888:I2989M;ENSP00000424987:I592M	ENSP00000295888:I2989M	I	-	3	3	WDFY3	85833144	0.712000	0.27916	0.008000	0.14137	0.958000	0.62258	0.401000	0.20948	0.210000	0.20664	-0.143000	0.13931	ATC	WDFY3	-	NULL		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85614120	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	0.398	C
WDR13	64743	genome.wustl.edu	37	X	48458940	48458940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:48458940C>T	ENST00000218056.5	+	5	1262	c.757C>T	c.(757-759)Cga>Tga	p.R253*	WDR13_ENST00000376729.5_Nonsense_Mutation_p.R253*	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	253						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCGCTGCATCCGAGAGATCCC	0.597																																																	0													95.0	60.0	72.0					X																	48458940		2203	4300	6503	SO:0001587	stop_gained	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.757C>T	X.37:g.48458940C>T	ENSP00000218056:p.Arg253*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R253*	ENST00000218056.5	37	c.757	CCDS14302.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.593254	0.99214	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7266	14.9989	0.71455	0.0:1.0:0.0:0.0	.	.	.	.	X	253	.	ENSP00000218056:R253X	R	+	1	2	WDR13	48343884	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.878000	0.75567	2.127000	0.65507	0.436000	0.28706	CGA	WDR13	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.597	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	C			48458940	+1	no_errors	ENST00000218056	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WDR35	57539	genome.wustl.edu	37	2	20114024	20114024	+	Missense_Mutation	SNP	C	C	G	rs200760434		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20114024C>G	ENST00000345530.3	-	27	3284	c.3169G>C	c.(3169-3171)Gac>Cac	p.D1057H	WDR35_ENST00000281405.4_Missense_Mutation_p.D1046H|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1057					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCATAGTCTTTCAGGTGA	0.393																																																	0													65.0	68.0	67.0					2																	20114024		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3169G>C	2.37:g.20114024C>G	ENSP00000314444:p.Asp1057His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D1057H	ENST00000345530.3	37	c.3169	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.950468	0.73787	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.68624	-0.34;-0.34	5.53	5.53	0.82687	.	0.141330	0.64402	D	0.000007	D	0.82600	0.5072	M	0.83223	2.63	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.64144	0.922;0.873	D	0.84068	0.0378	10	0.59425	D	0.04	-23.7384	18.8135	0.92068	0.0:1.0:0.0:0.0	.	1046;1057	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	H	1057;1046	ENSP00000314444:D1057H;ENSP00000281405:D1046H	ENSP00000281405:D1046H	D	-	1	0	WDR35	19977505	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.675000	0.68123	2.763000	0.94921	0.655000	0.94253	GAC	WDR35	-	pirsf_WD_repeat_p35		0.393	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	C	NM_020779		20114024	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR35	57539	genome.wustl.edu	37	2	20174334	20174334	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:20174334G>A	ENST00000345530.3	-	7	746	c.631C>T	c.(631-633)Cat>Tat	p.H211Y	WDR35_ENST00000281405.4_Missense_Mutation_p.H211Y|WDR35_ENST00000416055.2_5'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	211					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTACCAATGAATTCCAGCA	0.368																																																	0													77.0	68.0	71.0					2																	20174334		2203	4300	6503	SO:0001583	missense	57539			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.631C>T	2.37:g.20174334G>A	ENSP00000314444:p.His211Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H211Y	ENST00000345530.3	37	c.631	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158336	0.78114	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.63913	-0.07;-0.06	5.35	5.35	0.76521	.	0.093441	0.64402	D	0.000001	T	0.59945	0.2231	L	0.41236	1.265	0.80722	D	1	P;P	0.46621	0.881;0.813	B;B	0.43754	0.43;0.308	T	0.64214	-0.6460	10	0.59425	D	0.04	-22.7086	18.4351	0.90643	0.0:0.0:1.0:0.0	.	211;211	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	Y	211	ENSP00000314444:H211Y;ENSP00000281405:H211Y	ENSP00000281405:H211Y	H	-	1	0	WDR35	20037815	1.000000	0.71417	0.659000	0.29680	0.949000	0.60115	9.713000	0.98740	2.675000	0.91044	0.591000	0.81541	CAT	WDR35	-	pirsf_WD_repeat_p35		0.368	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	HGNC	protein_coding	OTTHUMT00000207472.2	G	NM_020779		20174334	-1	no_errors	ENST00000345530	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR4	10785	genome.wustl.edu	37	21	44274710	44274710	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr21:44274710G>A	ENST00000398208.2	-	8	812	c.753C>T	c.(751-753)ttC>ttT	p.F251F	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Silent_p.F251F	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCTGGCACCAGAATGCAATCC	0.607																																																	0													36.0	36.0	36.0					21																	44274710		2203	4300	6503	SO:0001819	synonymous_variant	10785			AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.753C>T	21.37:g.44274710G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F251	ENST00000398208.2	37	c.753	CCDS13691.1	21																																																																																			WDR4	-	superfamily_WD40_repeat_dom		0.607	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR4	HGNC	protein_coding	OTTHUMT00000195479.1	G			44274710	-1	no_errors	ENST00000330317	ensembl	human	known	70_37	silent	SNP	0.723	A
WDR6	11180	genome.wustl.edu	37	3	49051433	49051433	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:49051433C>T	ENST00000608424.1	+	2	2505	c.2466C>T	c.(2464-2466)ccC>ccT	p.P822P	WDR6_ENST00000395474.3_Silent_p.P852P|WDR6_ENST00000448293.1_Silent_p.P771P|WDR6_ENST00000415265.2_Silent_p.P270P			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	822					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTCCGGACCCCAGCACCCCAA	0.627											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													50.0	47.0	48.0					3																	49051433		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2466C>T	3.37:g.49051433C>T		Somatic	959	WXS	Illumina HiSeq	Phase_IV	B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P852	ENST00000608424.1	37	c.2556		3																																																																																			WDR6	-	superfamily_WD40_repeat_dom		0.627	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	C			49051433	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.000	T
WDR61	80349	genome.wustl.edu	37	15	78577611	78577611	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr15:78577611G>A	ENST00000267973.2	-	10	1091	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	WDR61_ENST00000558311.1_Nonsense_Mutation_p.Q274*|WDR61_ENST00000559332.1_5'UTR|WDR61_ENST00000558459.1_Nonsense_Mutation_p.Q181*			Q9GZS3	WDR61_HUMAN	WD repeat domain 61	274					histone H3-K4 trimethylation (GO:0080182)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						ACCTGATCCTGGTGATCAAAG	0.383																																																	0													140.0	118.0	125.0					15																	78577611		2196	4293	6489	SO:0001587	stop_gained	80349				CCDS10300.1	15q25.1	2013-01-09			ENSG00000140395	ENSG00000140395		"""WD repeat domain containing"""	30300	protein-coding gene	gene with protein product		609540				12477932	Standard	NM_025234		Approved	REC14	uc002bdn.3	Q9GZS3	OTTHUMG00000143735	ENST00000267973.2:c.820C>T	15.37:g.78577611G>A	ENSP00000267973:p.Gln274*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW84|Q6IA22|Q7Z4X4	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q274*	ENST00000267973.2	37	c.820	CCDS10300.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.477597	0.98309	.	.	ENSG00000140395	ENST00000267973	.	.	.	5.8	5.8	0.92144	.	0.246806	0.42548	D	0.000693	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-9.2218	19.0512	0.93046	0.0:0.0:1.0:0.0	.	.	.	.	X	274	.	ENSP00000267973:Q274X	Q	-	1	0	WDR61	76364666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.382000	0.97209	2.735000	0.93741	0.655000	0.94253	CAG	WDR61	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.383	WDR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR61	HGNC	protein_coding	OTTHUMT00000289803.3	G	NM_025234		78577611	-1	no_errors	ENST00000267973	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WDR64	128025	genome.wustl.edu	37	1	241834403	241834403	+	Missense_Mutation	SNP	G	G	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:241834403G>T	ENST00000366552.2	+	3	511	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	WDR64_ENST00000437684.2_Missense_Mutation_p.D102Y|WDR64_ENST00000461971.1_3'UTR	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	102										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTCTGAAGAAGATCCTATTGC	0.348																																																	0													212.0	172.0	185.0					1																	241834403		692	1591	2283	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.304G>T	1.37:g.241834403G>T	ENSP00000355510:p.Asp102Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D102Y	ENST00000366552.2	37	c.304		1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429592	0.43122	.	.	ENSG00000162843	ENST00000366552;ENST00000437684	T;T	0.40476	1.17;1.03	5.07	5.07	0.68467	.	0.093878	0.46758	D	0.000269	T	0.55847	0.1946	L	0.59436	1.845	0.40758	D	0.982977	.	.	.	.	.	.	T	0.59883	-0.7370	8	0.72032	D	0.01	-15.5813	15.7336	0.77825	0.0:0.0:1.0:0.0	.	.	.	.	Y	102	ENSP00000355510:D102Y;ENSP00000402446:D102Y	ENSP00000355510:D102Y	D	+	1	0	WDR64	239901026	0.999000	0.42202	0.993000	0.49108	0.158000	0.22134	5.463000	0.66712	2.511000	0.84671	0.655000	0.94253	GAT	WDR64	-	NULL		0.348	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		G	NM_144625		241834403	+1	no_errors	ENST00000366552	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR83OS	51398	genome.wustl.edu	37	19	12780964	12780964	+	5'UTR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:12780964G>A	ENST00000596731.1	-	0	1206				WDR83_ENST00000242796.4_Intron|WDR83_ENST00000418543.3_Intron|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000600694.1_5'UTR|WDR83OS_ENST00000222190.5_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand							integral component of membrane (GO:0016021)											ATCCGAGGTCGATGCTGATCC	0.652																																																	0													87.0	82.0	84.0					19																	12780964		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51398			AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.-747C>T	19.37:g.12780964G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4T8|Q9BVI3	RNA	SNP	-	NULL	ENST00000596731.1	37	NULL	CCDS12274.1	19																																																																																			WDR83OS	-	-		0.652	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR83OS	HGNC	protein_coding	OTTHUMT00000462702.1	G	NM_016145		12780964	-1	no_errors	ENST00000600694	ensembl	human	known	70_37	rna	SNP	0.001	A
WHSC1	7468	genome.wustl.edu	37	4	1902844	1902844	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:1902844G>C	ENST00000382895.3	+	4	894	c.463G>C	c.(463-465)Gaa>Caa	p.E155Q	WHSC1_ENST00000503128.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000508803.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000382892.2_Missense_Mutation_p.E155Q|WHSC1_ENST00000382891.5_Missense_Mutation_p.E155Q|WHSC1_ENST00000420906.2_Missense_Mutation_p.E155Q|WHSC1_ENST00000514045.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000436793.1_Missense_Mutation_p.E155Q|WHSC1_ENST00000398261.1_Missense_Mutation_p.E155Q	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	155					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTCTCAGTCAGAAGAAAATGG	0.438			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													65.0	63.0	64.0					4																	1902844		2203	4300	6503	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.463G>C	4.37:g.1902844G>C	ENSP00000372351:p.Glu155Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.E155Q	ENST00000382895.3	37	c.463	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024319	0.75390	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95588	-3.75;1.06;0.76;-3.75;-3.75;0.82;1.06;-3.75;1.05;1.08;1.05	4.94	4.94	0.65067	.	0.107189	0.40818	N	0.001003	D	0.97219	0.9091	M	0.64404	1.975	0.40121	D	0.976605	D;D;D;D;D	0.89917	1.0;0.999;0.983;1.0;1.0	D;D;P;D;D	0.87578	0.998;0.995;0.65;0.998;0.998	D	0.98055	1.0390	10	0.66056	D	0.02	.	18.3639	0.90384	0.0:0.0:1.0:0.0	.	155;155;155;155;155	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	Q	155	ENSP00000423972:E155Q;ENSP00000421681:E155Q;ENSP00000427434:E155Q;ENSP00000372347:E155Q;ENSP00000372348:E155Q;ENSP00000416725:E155Q;ENSP00000399251:E155Q;ENSP00000372351:E155Q;ENSP00000425761:E155Q;ENSP00000422878:E155Q;ENSP00000381311:E155Q	ENSP00000308780:E155Q	E	+	1	0	WHSC1	1872642	1.000000	0.71417	0.715000	0.30552	0.928000	0.56348	7.233000	0.78125	2.553000	0.86117	0.655000	0.94253	GAA	WHSC1	-	NULL		0.438	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	G	NM_133330		1902844	+1	no_errors	ENST00000382891	ensembl	human	known	70_37	missense	SNP	0.974	C
WIPI2	26100	genome.wustl.edu	37	7	5267828	5267828	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:5267828G>A	ENST00000288828.4	+	11	1339	c.1107G>A	c.(1105-1107)ctG>ctA	p.L369L	WIPI2_ENST00000382384.2_Silent_p.L351L|WIPI2_ENST00000401525.3_Silent_p.L351L|WIPI2_ENST00000404704.3_Silent_p.L369L|WIPI2_ENST00000484262.1_Silent_p.L310L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	369					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		AGTGTGCCCTGATGAAGCAGC	0.622																																																	0													36.0	38.0	37.0					7																	5267828		2203	4300	6503	SO:0001819	synonymous_variant	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1107G>A	7.37:g.5267828G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L369	ENST00000288828.4	37	c.1107	CCDS5339.1	7																																																																																			WIPI2	-	NULL		0.622	WIPI2-001	KNOWN	basic|CCDS	protein_coding	WIPI2	HGNC	protein_coding	OTTHUMT00000241669.2	G	NM_015610		5267828	+1	no_errors	ENST00000288828	ensembl	human	known	70_37	silent	SNP	0.884	A
WIZ	58525	genome.wustl.edu	37	19	15547672	15547672	+	Silent	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15547672G>C	ENST00000389282.4	-	4	2754	c.2541C>G	c.(2539-2541)ctC>ctG	p.L847L	WIZ_ENST00000263381.7_Silent_p.L158L			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	847					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AGGGCACCGTGAGAGGTAAGC	0.701																																																	0													21.0	25.0	24.0					19																	15547672		1883	4106	5989	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2541C>G	19.37:g.15547672G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L847	ENST00000389282.4	37	c.2541		19																																																																																			WIZ	-	NULL		0.701	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15547672	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	silent	SNP	0.824	C
WIZ	58525	genome.wustl.edu	37	19	15547786	15547786	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15547786G>A	ENST00000389282.4	-	4	2640	c.2427C>T	c.(2425-2427)atC>atT	p.I809I	WIZ_ENST00000263381.7_Silent_p.I120I			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	809					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCTCCTGCAGGATGTTGATGG	0.687																																																	0													49.0	59.0	55.0					19																	15547786		2103	4225	6328	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2427C>T	19.37:g.15547786G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I809	ENST00000389282.4	37	c.2427		19																																																																																			WIZ	-	NULL		0.687	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15547786	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	silent	SNP	1.000	A
WIZ	58525	genome.wustl.edu	37	19	15547792	15547792	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:15547792G>A	ENST00000389282.4	-	4	2634	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	WIZ_ENST00000263381.7_Silent_p.I118I			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	807					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GCAGGATGTTGATGGGTGAGA	0.692																																																	0													51.0	61.0	57.0					19																	15547792		2107	4233	6340	SO:0001819	synonymous_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2421C>T	19.37:g.15547792G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I807	ENST00000389282.4	37	c.2421		19																																																																																			WIZ	-	NULL		0.692	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15547792	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	silent	SNP	1.000	A
WNT7B	7477	genome.wustl.edu	37	22	46327115	46327115	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:46327115C>T	ENST00000339464.4	-	3	807	c.433G>A	c.(433-435)Gag>Aag	p.E145K	WNT7B_ENST00000410089.1_Missense_Mutation_p.E129K|WNT7B_ENST00000410058.1_Missense_Mutation_p.E145K|WNT7B_ENST00000409496.3_Missense_Mutation_p.E149K	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	145					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		TTCCAGCCCTCGGCTTGGTTG	0.687																																																	0													53.0	53.0	53.0					22																	46327115		2203	4300	6503	SO:0001583	missense	7477			AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.433G>A	22.37:g.46327115C>T	ENSP00000341032:p.Glu145Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B8A596|Q96Q12	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7	p.E145K	ENST00000339464.4	37	c.433	CCDS33667.1	22	.	.	.	.	.	.	.	.	.	.	c	7.014	0.557306	0.13436	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	3.21	2.17	0.27698	.	0.000000	0.85682	U	0.000000	T	0.60170	0.2248	L	0.35414	1.06	0.52501	D	0.999956	B;B	0.28291	0.206;0.206	B;B	0.28139	0.067;0.086	T	0.50180	-0.8858	10	0.19590	T	0.45	.	11.2576	0.49063	0.0:0.813:0.187:0.0	.	149;145	A8K0G1;P56706	.;WNT7B_HUMAN	K	145;129;149;145	ENSP00000341032:E145K;ENSP00000386781:E129K;ENSP00000386546:E149K;ENSP00000387217:E145K	ENSP00000341032:E145K	E	-	1	0	WNT7B	44705779	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	4.355000	0.59424	0.545000	0.28902	0.306000	0.20318	GAG	WNT7B	-	pfam_Wnt,smart_Wnt,prints_Wnt7		0.687	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT7B	HGNC	protein_coding	OTTHUMT00000336418.1	C	NM_058238		46327115	-1	no_errors	ENST00000339464	ensembl	human	known	70_37	missense	SNP	1.000	T
WNT8B	7479	genome.wustl.edu	37	10	102242219	102242219	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:102242219C>G	ENST00000343737.5	+	6	830	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	234					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GCGGCGCCATCGCCGACACCT	0.672											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													21.0	24.0	23.0					10																	102242219		2200	4297	6497	SO:0001583	missense	7479			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.702C>G	10.37:g.102242219C>G	ENSP00000340677:p.Ile234Met	Somatic	1365	WXS	Illumina HiSeq	Phase_IV	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.I234M	ENST00000343737.5	37	c.702	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	C	8.131	0.783101	0.16189	.	.	ENSG00000075290	ENST00000343737	T	0.75589	-0.95	5.14	-0.133	0.13485	.	0.000000	0.85682	D	0.000000	T	0.60508	0.2274	L	0.28054	0.825	0.54753	D	0.999984	B	0.34264	0.446	B	0.43658	0.426	T	0.44081	-0.9351	10	0.30078	T	0.28	.	3.6116	0.08062	0.2788:0.2953:0.0:0.4259	.	234	Q93098	WNT8B_HUMAN	M	234	ENSP00000340677:I234M	ENSP00000340677:I234M	I	+	3	3	WNT8B	102232209	0.845000	0.29573	0.992000	0.48379	0.404000	0.30871	0.027000	0.13621	-0.312000	0.08741	0.313000	0.20887	ATC	WNT8B	-	pfam_Wnt,smart_Wnt,prints_Wnt8		0.672	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	C	NM_003393		102242219	+1	no_errors	ENST00000343737	ensembl	human	known	70_37	missense	SNP	0.997	G
WSB1	26118	genome.wustl.edu	37	17	25631899	25631899	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:25631899G>C	ENST00000262394.2	+	4	888	c.572G>C	c.(571-573)aGa>aCa	p.R191T	WSB1_ENST00000348811.2_Missense_Mutation_p.R45T|WSB1_ENST00000427287.2_Missense_Mutation_p.R160T|WSB1_ENST00000579733.1_Missense_Mutation_p.R45T|WSB1_ENST00000581185.1_Missense_Mutation_p.R191T|WSB1_ENST00000583193.1_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	191					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCAGCTTCAAGAGACAAAACT	0.388																																																	0													134.0	130.0	131.0					17																	25631899		2203	4300	6503	SO:0001583	missense	26118			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.572G>C	17.37:g.25631899G>C	ENSP00000262394:p.Arg191Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R191T	ENST00000262394.2	37	c.572	CCDS11220.1	17	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215540	0.58452	.	.	ENSG00000109046	ENST00000262394;ENST00000427287;ENST00000348811	T;T;T	0.62788	0.0;0.0;0.0	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	L	0.39020	1.185	0.58432	D	0.999998	B;B;B;B;B	0.32409	0.004;0.103;0.041;0.208;0.37	B;B;B;B;B	0.30316	0.012;0.038;0.016;0.068;0.114	T	0.47623	-0.9103	10	0.17832	T	0.49	-16.0531	19.3277	0.94268	0.0:0.0:1.0:0.0	.	160;191;191;45;191	B4DGB8;B4DTL1;Q9Y6I7-3;Q9Y6I7-2;Q9Y6I7	.;.;.;.;WSB1_HUMAN	T	191;160;45	ENSP00000262394:R191T;ENSP00000416112:R160T;ENSP00000327055:R45T	ENSP00000262394:R191T	R	+	2	0	WSB1	22656026	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	6.421000	0.73353	2.812000	0.96745	0.555000	0.69702	AGA	WSB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.388	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB1	HGNC	protein_coding	OTTHUMT00000255391.4	G	NM_015626		25631899	+1	no_errors	ENST00000262394	ensembl	human	known	70_37	missense	SNP	1.000	C
WWC3	55841	genome.wustl.edu	37	X	10035326	10035326	+	Splice_Site	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:10035326G>C	ENST00000380861.4	+	3	407		c.e3-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTAAATTTCAGAACTTACCCA	0.378																																																	0													36.0	31.0	33.0					X																	10035326		2203	4300	6503	SO:0001630	splice_region_variant	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.17-1G>C	X.37:g.10035326G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	-	e2-1	ENST00000380861.4	37	c.17-1	CCDS14136.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.27|19.27	3.795241|3.795241	0.70452|0.70452	.|.	.|.	ENSG00000047644|ENSG00000047644	ENST00000380861;ENST00000454666|ENST00000398613	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53270	.|0.1786	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.45542	.|-0.9254	.|5	.|0.08599	.|T	.|0.76	.|.	17.5886|17.5886	0.87989|0.87989	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|Q	-1|6	.|.	.|ENSP00000381614:E6Q	.|E	+|+	.|1	.|0	WWC3|WWC3	9995326|9995326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	9.590000|9.590000	0.98238|0.98238	2.081000|2.081000	0.62600|0.62600	0.506000|0.506000	0.49869|0.49869	.|GAA	WWC3	-	-		0.378	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	G	NM_015691	Intron	10035326	+1	no_errors	ENST00000380861	ensembl	human	known	70_37	splice_site	SNP	1.000	C
XIST	7503	genome.wustl.edu	37	X	73065497	73065497	+	lincRNA	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:73065497G>A	ENST00000429829.1	-	0	7091					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACCTTATTCAGATGGGATGGG	0.438																																																	0													144.0	128.0	133.0					X																	73065497		876	1991	2867			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73065497G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.438	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73065497	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	A
XRCC3	7517	genome.wustl.edu	37	14	104165740	104165740	+	Silent	SNP	C	C	G	rs566710190		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:104165740C>G	ENST00000553264.1	-	6	1531	c.735G>C	c.(733-735)ctG>ctC	p.L245L	XRCC3_ENST00000445556.1_Silent_p.L245L|KLC1_ENST00000348520.6_Intron|RP11-73M18.8_ENST00000602422.1_RNA|XRCC3_ENST00000555055.1_Silent_p.L245L|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000334553.6_Intron|KLC1_ENST00000452929.2_Intron|KLC1_ENST00000554280.1_Intron|XRCC3_ENST00000554974.1_Silent_p.L40L|XRCC3_ENST00000554913.1_Silent_p.L245L|XRCC3_ENST00000555832.1_5'Flank|XRCC3_ENST00000352127.7_Silent_p.L245L|KLC1_ENST00000555836.1_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	245					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGGCACTGCTCAGCTCACGCA	0.632								Direct reversal of damage;Homologous recombination																																									0													17.0	20.0	19.0					14																	104165740		2202	4296	6498	SO:0001819	synonymous_variant	7517			AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.735G>C	14.37:g.104165740C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43568|Q9BU18	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,superfamily_RNAP_asu_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L245	ENST00000553264.1	37	c.735	CCDS9984.1	14																																																																																			XRCC3	-	pfam_DNA_recomb/repair_Rad51_C,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd		0.632	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC3	HGNC	protein_coding	OTTHUMT00000414631.1	C	NM_005432		104165740	-1	no_errors	ENST00000352127	ensembl	human	known	70_37	silent	SNP	0.939	G
XRN2	22803	genome.wustl.edu	37	20	21335437	21335437	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:21335437C>T	ENST00000377191.3	+	21	2042	c.1947C>T	c.(1945-1947)ctC>ctT	p.L649L	XRN2_ENST00000539513.1_Silent_p.L595L|XRN2_ENST00000430571.2_Silent_p.L573L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	649					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTGTTGCTCTCTTGCCATTCG	0.438																																																	0													151.0	127.0	135.0					20																	21335437		2203	4300	6503	SO:0001819	synonymous_variant	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.1947C>T	20.37:g.21335437C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2	p.L649	ENST00000377191.3	37	c.1947	CCDS13144.1	20																																																																																			XRN2	-	pirsf_5_3_exoribonuclease_2		0.438	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRN2	HGNC	protein_coding	OTTHUMT00000078273.2	C	NM_012255		21335437	+1	no_errors	ENST00000377191	ensembl	human	known	70_37	silent	SNP	0.193	T
XRRA1	143570	genome.wustl.edu	37	11	74656105	74656105	+	5'UTR	SNP	T	T	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:74656105T>G	ENST00000340360.6	-	0	285				XRRA1_ENST00000321448.8_Intron|AP001992.1_ENST00000578538.1_RNA|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000527087.1_5'UTR	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TTCCTTTTTTTTTTGTTTCTT	0.363																																																	0																																										SO:0001623	5_prime_UTR_variant	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.-47A>C	11.37:g.74656105T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000340360.6	37	NULL	CCDS44680.1	11																																																																																			XRRA1	-	-		0.363	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	T	NM_182969		74656105	-1	no_errors	ENST00000524430	ensembl	human	known	70_37	rna	SNP	0.903	G
YLPM1	56252	genome.wustl.edu	37	14	75276095	75276095	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:75276095T>C	ENST00000552421.1	+	6	2540	c.2416T>C	c.(2416-2418)Tat>Cat	p.Y806H	YLPM1_ENST00000238571.3_Missense_Mutation_p.Y1317H|YLPM1_ENST00000325680.7_Missense_Mutation_p.Y1512H			P49750	YLPM1_HUMAN	YLP motif containing 1	1317					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCAGGGTCGTATAGACCTCC	0.448																																																	0													63.0	60.0	61.0					14																	75276095		1922	4137	6059	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2416T>C	14.37:g.75276095T>C	ENSP00000447921:p.Tyr806His	Somatic		WXS	Illumina HiSeq	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.Y1512H	ENST00000552421.1	37	c.4534		14	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145198	0.57044	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.18	5.18	0.71444	.	0.112860	0.40222	N	0.001153	T	0.43344	0.1243	N	0.14661	0.345	0.30072	N	0.809969	D	0.71674	0.998	D	0.69142	0.962	T	0.38373	-0.9664	9	0.22706	T	0.39	-7.4779	12.7739	0.57436	0.0:0.0:0.0:1.0	.	1512	P49750-4	.	H	806;1512;1317;1225	.	ENSP00000238571:Y1317H	Y	+	1	0	YLPM1	74345848	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	4.543000	0.60684	1.933000	0.56026	0.482000	0.46254	TAT	YLPM1	-	NULL		0.448	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	T	NM_019589		75276095	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBBX	79740	genome.wustl.edu	37	3	166958617	166958617	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:166958617T>A	ENST00000392766.2	-	21	2707	c.2367A>T	c.(2365-2367)caA>caT	p.Q789H	ZBBX_ENST00000392767.2_Missense_Mutation_p.Q789H|ZBBX_ENST00000307529.5_Missense_Mutation_p.Q828H|ZBBX_ENST00000392764.1_Missense_Mutation_p.Q760H|ZBBX_ENST00000455345.2_Missense_Mutation_p.Q828H	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	789						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						TGATGACATGTTGCTTGTTGA	0.378																																																	0													189.0	178.0	182.0					3																	166958617		1914	4122	6036	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.2367A>T	3.37:g.166958617T>A	ENSP00000376519:p.Gln789His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	pfam_Znf_B-box	p.Q828H	ENST00000392766.2	37	c.2484	CCDS3199.2	3	.	.	.	.	.	.	.	.	.	.	T	13.71	2.319338	0.41096	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.21	2.74	0.32292	.	0.266538	0.26931	N	0.021779	T	0.59649	0.2209	L	0.47716	1.5	0.26629	N	0.972511	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.936	T	0.50964	-0.8765	10	0.87932	D	0	0.0269	7.0091	0.24853	0.0:0.1817:0.0:0.8183	.	828;789	A8MT70-2;A8MT70	.;ZBBX_HUMAN	H	789;789;828;828;760	ENSP00000376519:Q789H;ENSP00000376520:Q789H;ENSP00000390232:Q828H;ENSP00000305065:Q828H;ENSP00000376517:Q760H	ENSP00000305065:Q828H	Q	-	3	2	ZBBX	168441311	0.999000	0.42202	0.971000	0.41717	0.279000	0.26890	0.535000	0.23114	0.492000	0.27815	0.455000	0.32223	CAA	ZBBX	-	NULL		0.378	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZBBX	HGNC	protein_coding	OTTHUMT00000257657.3	T	NM_024687		166958617	-1	no_errors	ENST00000307529	ensembl	human	known	70_37	missense	SNP	0.995	A
ZBTB1	22890	genome.wustl.edu	37	14	64989698	64989698	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:64989698G>C	ENST00000554015.1	+	4	1907	c.1476G>C	c.(1474-1476)gaG>gaC	p.E492D	ZBTB1_ENST00000358738.3_Missense_Mutation_p.E492D|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E492D|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	492					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ACTTGGAAGAGAATCCTGATG	0.423																																																	0													106.0	105.0	105.0					14																	64989698		2203	4300	6503	SO:0001583	missense	22890			AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.1476G>C	14.37:g.64989698G>C	ENSP00000451000:p.Glu492Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6S8|Q86SW8	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.E492D	ENST00000554015.1	37	c.1476	CCDS45126.1	14	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188873	0.38707	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.11169	2.8;3.39;2.8	6.03	1.1	0.20463	.	0.312442	0.28203	N	0.016207	T	0.12774	0.0310	L	0.27053	0.805	0.34924	D	0.748703	D;P	0.56287	0.975;0.882	P;B	0.53062	0.717;0.428	T	0.14980	-1.0453	10	0.66056	D	0.02	-24.007	11.1015	0.48177	0.3835:0.0:0.6165:0.0	.	492;492	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	D	492	ENSP00000451000:E492D;ENSP00000351587:E492D;ENSP00000378201:E492D	ENSP00000351587:E492D	E	+	3	2	ZBTB1	64059451	0.980000	0.34600	0.999000	0.59377	0.998000	0.95712	0.091000	0.15046	0.152000	0.19188	0.655000	0.94253	GAG	ZBTB1	-	NULL		0.423	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB1	HGNC	protein_coding	OTTHUMT00000411912.1	G			64989698	+1	no_errors	ENST00000394712	ensembl	human	known	70_37	missense	SNP	0.990	C
ZBTB10	65986	genome.wustl.edu	37	8	81399682	81399682	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:81399682G>C	ENST00000430430.1	+	2	1416	c.637G>C	c.(637-639)Gat>Cat	p.D213H	ZBTB10_ENST00000426744.2_Missense_Mutation_p.D213H|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Missense_Mutation_p.D213H	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	213	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			gtcgggcggcgatggcgggga	0.706																																																	0													8.0	12.0	11.0					8																	81399682		1854	3820	5674	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.637G>C	8.37:g.81399682G>C	ENSP00000387462:p.Asp213His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FVD0|Q86W96|Q8IXI9|Q96MH9	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.D213H	ENST00000430430.1	37	c.637	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787643	0.70337	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.12147	2.73;2.73;2.71	3.75	3.75	0.43078	.	0.399563	0.22586	N	0.058147	T	0.17704	0.0425	N	0.24115	0.695	0.43457	D	0.995653	D;D;D	0.61697	0.983;0.983;0.99	P;P;P	0.55615	0.608;0.608;0.78	T	0.02852	-1.1102	10	0.62326	D	0.03	.	13.0806	0.59112	0.0:0.0:1.0:0.0	.	69;213;213	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	H	213;213;213;41	ENSP00000387462:D213H;ENSP00000412036:D213H;ENSP00000416134:D213H	ENSP00000416134:D213H	D	+	1	0	ZBTB10	81562237	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.781000	0.68964	1.889000	0.54706	0.462000	0.41574	GAT	ZBTB10	-	NULL		0.706	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	G	NM_023929		81399682	+1	no_errors	ENST00000426744	ensembl	human	known	70_37	missense	SNP	1.000	C
ZBTB11	27107	genome.wustl.edu	37	3	101374961	101374961	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:101374961C>G	ENST00000312938.4	-	7	2758	c.2178G>C	c.(2176-2178)atG>atC	p.M726I		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	726					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTGAATACTCATATGTTCTT	0.299																																																	0													59.0	56.0	57.0					3																	101374961		2203	4300	6503	SO:0001583	missense	27107			U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.2178G>C	3.37:g.101374961C>G	ENSP00000326200:p.Met726Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKP9	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.M726I	ENST00000312938.4	37	c.2178	CCDS2943.1	3	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586457	0.28268	.	.	ENSG00000066422	ENST00000312938	T	0.10573	2.86	5.82	5.82	0.92795	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.149056	0.64402	D	0.000008	T	0.13243	0.0321	L	0.53561	1.675	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.02226	-1.1192	10	0.37606	T	0.19	-4.2737	14.2894	0.66268	0.0:0.9294:0.0:0.0706	.	726	O95625	ZBT11_HUMAN	I	726	ENSP00000326200:M726I	ENSP00000326200:M726I	M	-	3	0	ZBTB11	102857651	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	3.438000	0.52871	2.765000	0.95021	0.650000	0.86243	ATG	ZBTB11	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.299	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB11	HGNC	protein_coding	OTTHUMT00000353441.2	C	NM_014415		101374961	-1	no_errors	ENST00000312938	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBTB4	57659	genome.wustl.edu	37	17	7366072	7366072	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7366072C>T	ENST00000311403.4	-	4	2568	c.2229G>A	c.(2227-2229)aaG>aaA	p.K743K	ZBTB4_ENST00000380599.4_Silent_p.K743K	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	743					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCTCTTGGTGCTTCCGCAGCT	0.711																																																	0													39.0	44.0	42.0					17																	7366072		2126	4189	6315	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2229G>A	17.37:g.7366072C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K743	ENST00000311403.4	37	c.2229	CCDS11107.1	17																																																																																			ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.711	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7366072	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	silent	SNP	0.987	T
ZBTB4	57659	genome.wustl.edu	37	17	7366075	7366075	+	Silent	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr17:7366075C>A	ENST00000311403.4	-	4	2565	c.2226G>T	c.(2224-2226)cgG>cgT	p.R742R	ZBTB4_ENST00000380599.4_Silent_p.R742R	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	742					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CTTGGTGCTTCCGCAGCTTTC	0.697																																																	0													39.0	45.0	43.0					17																	7366075		2126	4192	6318	SO:0001819	synonymous_variant	57659			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2226G>T	17.37:g.7366075C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R742	ENST00000311403.4	37	c.2226	CCDS11107.1	17																																																																																			ZBTB4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	C	NM_020899		7366075	-1	no_errors	ENST00000311403	ensembl	human	known	70_37	silent	SNP	0.103	A
ZBTB44	29068	genome.wustl.edu	37	11	130104128	130104128	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:130104128C>G	ENST00000357899.4	-	6	1881	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	ZBTB44_ENST00000525842.1_3'UTR|ZBTB44_ENST00000397753.1_Missense_Mutation_p.E537Q|ZBTB44_ENST00000530205.1_Intron			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACAAGGGTCTCTTCTTGTTCC	0.388																																																	0													58.0	53.0	55.0					11																	130104128		1792	4019	5811	SO:0001583	missense	29068			AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.1609G>C	11.37:g.130104128C>G	ENSP00000350574:p.Glu537Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E537Q	ENST00000357899.4	37	c.1609		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.38|18.38	3.610443|3.610443	0.66558|0.66558	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000397753;ENST00000357899|ENST00000527478	T;T|.	0.09163|.	3.01;3.01|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.224693|.	0.45361|.	D|.	0.000363|.	T|T	0.76955|0.76955	0.4060|0.4060	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.20780|.	0.048|.	B|.	0.24541|.	0.054|.	T|T	0.73898|0.73898	-0.3837|-0.3837	9|4	0.87932|.	D|.	0|.	.|.	20.3627|20.3627	0.98863|0.98863	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	537|.	Q8NCP5|.	ZBT44_HUMAN|.	Q|T	537|515	ENSP00000380861:E537Q;ENSP00000350574:E537Q|.	ENSP00000350574:E537Q|.	E|R	-|-	1|2	0|0	ZBTB44|ZBTB44	129609338|129609338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.150000|7.150000	0.77403|0.77403	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAG|AGA	ZBTB44	-	NULL		0.388	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	ZBTB44	HGNC	protein_coding	OTTHUMT00000386126.1	C	NM_014155		130104128	-1	no_errors	ENST00000357899	ensembl	human	known	70_37	missense	SNP	1.000	G
ZC3H13	23091	genome.wustl.edu	37	13	46543770	46543770	+	Missense_Mutation	SNP	T	T	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr13:46543770T>G	ENST00000242848.4	-	14	3257	c.2909A>C	c.(2908-2910)aAg>aCg	p.K970T	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K970T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	970	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATCCTCTTTCTTTTTCTTAAT	0.353																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													152.0	150.0	151.0					13																	46543770		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2909A>C	13.37:g.46543770T>G	ENSP00000242848:p.Lys970Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K970T	ENST00000242848.4	37	c.2909		13	.	.	.	.	.	.	.	.	.	.	T	9.308	1.054909	0.19907	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.34472	2.35;1.36	5.78	4.59	0.56863	.	0.084143	0.51477	D	0.000096	T	0.35335	0.0928	M	0.65975	2.015	0.80722	D	1	P;P	0.41848	0.651;0.763	B;B	0.36845	0.086;0.234	T	0.19031	-1.0318	10	0.46703	T	0.11	.	11.8922	0.52635	0.0:0.0682:0.0:0.9318	.	970;970	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	T	970	ENSP00000242848:K970T;ENSP00000282007:K970T	ENSP00000242848:K970T	K	-	2	0	ZC3H13	45441771	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	2.245000	0.43133	1.120000	0.41904	0.533000	0.62120	AAG	ZC3H13	-	NULL		0.353	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	T	NM_015070		46543770	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	1.000	G
ZC3H4	23211	genome.wustl.edu	37	19	47568444	47568444	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:47568444C>T	ENST00000253048.5	-	0	5118				ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGCTCCCCATCCCCTGGCTGC	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.*1169G>A	19.37:g.47568444C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y420	RNA	SNP	-	NULL	ENST00000253048.5	37	NULL	CCDS42582.1	19																																																																																			ZC3H4	-	-		0.612	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	C			47568444	-1	no_errors	ENST00000594019	ensembl	human	known	70_37	rna	SNP	0.000	T
ZC3H4	23211	genome.wustl.edu	37	19	47593402	47593402	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:47593402C>G	ENST00000253048.5	-	5	574	c.537G>C	c.(535-537)aaG>aaC	p.K179N	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	179							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGTATGCCTTCTTGGGCAGGG	0.587																																																	0													127.0	125.0	125.0					19																	47593402		2113	4224	6337	SO:0001583	missense	23211			AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.537G>C	19.37:g.47593402C>G	ENSP00000253048:p.Lys179Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y420	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.K179N	ENST00000253048.5	37	c.537	CCDS42582.1	19	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276127	0.59649	.	.	ENSG00000130749	ENST00000253048	T	0.19938	2.11	5.74	5.74	0.90152	.	0.301794	0.30446	N	0.009615	T	0.38904	0.1058	L	0.50333	1.59	0.58432	D	0.999994	D	0.76494	0.999	D	0.80764	0.994	T	0.02533	-1.1145	10	0.41790	T	0.15	.	12.7607	0.57363	0.0:0.9212:0.0:0.0788	.	179	Q9UPT8	ZC3H4_HUMAN	N	179	ENSP00000253048:K179N	ENSP00000253048:K179N	K	-	3	2	ZC3H4	52285242	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.822000	0.39052	2.710000	0.92621	0.655000	0.94253	AAG	ZC3H4	-	NULL		0.587	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	ZC3H4	HGNC	protein_coding	OTTHUMT00000466667.1	C			47593402	-1	no_errors	ENST00000253048	ensembl	human	known	70_37	missense	SNP	1.000	G
ZC3H6	376940	genome.wustl.edu	37	2	113089379	113089379	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr2:113089379G>A	ENST00000409871.1	+	12	3285	c.2884G>A	c.(2884-2886)Gat>Aat	p.D962N	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Missense_Mutation_p.D962N	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	962							metal ion binding (GO:0046872)	p.D962Y(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						TAAATTAGGAGATCCTAGACT	0.408																																																	1	Substitution - Missense(1)	large_intestine(1)											71.0	67.0	69.0					2																	113089379		1855	4092	5947	SO:0001583	missense	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.2884G>A	2.37:g.113089379G>A	ENSP00000386764:p.Asp962Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A9JR71|Q6ZW96	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.D962N	ENST00000409871.1	37	c.2884	CCDS46393.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443445	0.83993	.	.	ENSG00000188177	ENST00000409871;ENST00000343936	T;T	0.18174	2.23;2.23	5.79	5.79	0.91817	.	0.485469	0.23779	N	0.044659	T	0.47395	0.1443	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42682	-0.9437	10	0.72032	D	0.01	-21.298	20.0401	0.97581	0.0:0.0:1.0:0.0	.	962	P61129	ZC3H6_HUMAN	N	962	ENSP00000386764:D962N;ENSP00000340298:D962N	ENSP00000340298:D962N	D	+	1	0	ZC3H6	112805850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.972000	0.70448	2.716000	0.92895	0.591000	0.81541	GAT	ZC3H6	-	NULL		0.408	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H6	HGNC	protein_coding	OTTHUMT00000330551.1	G	NM_198581		113089379	+1	no_errors	ENST00000343936	ensembl	human	known	70_37	missense	SNP	1.000	A
ZC3H7A	29066	genome.wustl.edu	37	16	11858943	11858943	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:11858943G>A	ENST00000396516.2	-	14	1983	c.1786C>T	c.(1786-1788)Cac>Tac	p.H596Y	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.H596Y			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	596						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GTAACCGGGTGAGAACAAGCA	0.279																																																	0													88.0	89.0	89.0					16																	11858943		2197	4296	6493	SO:0001583	missense	29066			AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1786C>T	16.37:g.11858943G>A	ENSP00000379773:p.His596Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUG5|Q9NPE9	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.H596Y	ENST00000396516.2	37	c.1786	CCDS10550.1	16	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888611	0.91814	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.10192	2.9;2.9	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	M	0.73962	2.25	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.942	T	0.04320	-1.0960	10	0.87932	D	0	.	18.5622	0.91104	0.0:0.0:1.0:0.0	.	317;596	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	Y	596	ENSP00000347999:H596Y;ENSP00000379773:H596Y	ENSP00000347999:H596Y	H	-	1	0	ZC3H7A	11766444	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.694000	0.98686	2.689000	0.91719	0.591000	0.81541	CAC	ZC3H7A	-	NULL		0.279	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZC3H7A	HGNC	protein_coding	OTTHUMT00000437066.1	G	NM_014153		11858943	-1	no_errors	ENST00000355758	ensembl	human	known	70_37	missense	SNP	1.000	A
ZCCHC6	79670	genome.wustl.edu	37	9	88916443	88916443	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:88916443C>G	ENST00000375963.3	-	26	4340	c.4168G>C	c.(4168-4170)Gag>Cag	p.E1390Q	ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E290Q|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.E679Q|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1352Q|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1154Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1390					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCTTTGTCCTCTTTGCTTCTT	0.443																																																	0													286.0	228.0	247.0					9																	88916443		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.4168G>C	9.37:g.88916443C>G	ENSP00000365130:p.Glu1390Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E1390Q	ENST00000375963.3	37	c.4168	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215168	0.79352	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T	0.61980	0.06;0.64;0.58;0.5	5.14	5.14	0.70334	.	0.126086	0.52532	D	0.000080	T	0.69949	0.3168	L	0.32530	0.975	0.44092	D	0.996859	P;D;P	0.67145	0.745;0.996;0.709	P;D;B	0.63877	0.506;0.919;0.261	T	0.71185	-0.4667	10	0.52906	T	0.07	-18.0417	18.8078	0.92045	0.0:1.0:0.0:0.0	.	1352;1154;1390	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	Q	679;1154;1352;290;1390	ENSP00000277141:E679Q;ENSP00000365127:E1154Q;ENSP00000365128:E1352Q;ENSP00000365130:E1390Q	ENSP00000277141:E679Q	E	-	1	0	ZCCHC6	88106263	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.344000	0.52174	2.677000	0.91161	0.655000	0.94253	GAG	ZCCHC6	-	NULL		0.443	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	C	NM_024617		88916443	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	missense	SNP	1.000	G
ZDHHC7	55625	genome.wustl.edu	37	16	85022397	85022397	+	Intron	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:85022397C>T	ENST00000313732.4	-	3	668				ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G133E	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7						peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			large_intestine(6)|lung(4)	10						AGACTCGGTTCCCTCACCACA	0.557																																																	0													79.0	79.0	79.0					16																	85022397		692	1591	2283	SO:0001627	intron_variant	55625			AK000286	CCDS10950.1, CCDS45538.1	16q23.1	2010-02-09			ENSG00000153786	ENSG00000153786		"""Zinc fingers, DHHC-type"""	18459	protein-coding gene	gene with protein product	"""Sertoli cell gene with zinc finger domain-&#946;"""	614604					Standard	NM_017740		Approved	FLJ10792, ZNF370, FLJ20279, SERZ-B, SERZ1	uc002fiq.2	Q9NXF8	OTTHUMG00000137645	ENST00000313732.4:c.315+1512G>A	16.37:g.85022397C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUM1|Q8WV42|Q9NVD8	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.G133E	ENST00000313732.4	37	c.398	CCDS10950.1	16	.	.	.	.	.	.	.	.	.	.	C	6.240	0.412430	0.11812	.	.	ENSG00000153786	ENST00000344861	T	0.34472	1.36	1.6	-0.777	0.10981	.	.	.	.	.	T	0.11110	0.0271	.	.	.	0.09310	N	1	B	0.31174	0.311	B	0.24006	0.05	T	0.25047	-1.0143	8	0.02654	T	1	.	4.1195	0.10099	0.0:0.5065:0.0:0.4935	.	133	Q9NXF8-2	.	E	133	ENSP00000341681:G133E	ENSP00000341681:G133E	G	-	2	0	ZDHHC7	83579898	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.708000	0.05035	-0.193000	0.10415	0.313000	0.20887	GGA	ZDHHC7	-	NULL		0.557	ZDHHC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC7	HGNC	protein_coding	OTTHUMT00000269087.1	C	NM_017740		85022397	-1	no_errors	ENST00000344861	ensembl	human	known	70_37	missense	SNP	0.001	T
ZDHHC8	29801	genome.wustl.edu	37	22	20128963	20128963	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr22:20128963G>C	ENST00000334554.7	+	9	1176	c.1035G>C	c.(1033-1035)caG>caC	p.Q345H	ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Missense_Mutation_p.Q253H|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.Q345H	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	345					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGTCGGTGCAGAGGACCAGCC	0.627																																																	0													65.0	65.0	65.0					22																	20128963		2203	4299	6502	SO:0001583	missense	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.1035G>C	22.37:g.20128963G>C	ENSP00000334490:p.Gln345His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase	p.Q345H	ENST00000334554.7	37	c.1035	CCDS13776.1	22	.	.	.	.	.	.	.	.	.	.	.	13.76	2.332332	0.41297	.	.	ENSG00000099904	ENST00000334554;ENST00000320602;ENST00000405930	T;T;T	0.72615	1.33;-0.67;1.31	5.25	5.25	0.73442	.	0.869497	0.09816	N	0.752093	T	0.75975	0.3923	L	0.36672	1.1	0.26798	N	0.969263	D;D;P	0.60575	0.987;0.988;0.947	D;P;B	0.72982	0.979;0.796;0.254	T	0.63739	-0.6569	10	0.44086	T	0.13	.	8.0913	0.30803	0.1374:0.0:0.8626:0.0	.	253;345;345	Q9ULC8-2;Q9ULC8-3;Q9ULC8	.;.;ZDHC8_HUMAN	H	345;253;345	ENSP00000334490:Q345H;ENSP00000317804:Q253H;ENSP00000384716:Q345H	ENSP00000317804:Q253H	Q	+	3	2	ZDHHC8	18508963	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.541000	0.45735	2.462000	0.83206	0.645000	0.84053	CAG	ZDHHC8	-	NULL		0.627	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC8	HGNC	protein_coding	OTTHUMT00000318564.1	G	NM_013373		20128963	+1	no_errors	ENST00000405930	ensembl	human	known	70_37	missense	SNP	0.998	C
ZFAND4	93550	genome.wustl.edu	37	10	46113667	46113667	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:46113667G>A	ENST00000344646.5	-	9	2184	c.1969C>T	c.(1969-1971)Ctt>Ttt	p.L657F	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Missense_Mutation_p.S204F|ZFAND4_ENST00000374366.3_Missense_Mutation_p.L583F	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	657							zinc ion binding (GO:0008270)										TTTGTCTGAAGAGGGGCTTTC	0.413																																																	0													89.0	87.0	88.0					10																	46113667		2203	4300	6503	SO:0001583	missense	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1969C>T	10.37:g.46113667G>A	ENSP00000339484:p.Leu657Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.L657F	ENST00000344646.5	37	c.1969	CCDS7214.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.657|4.657	0.122179|0.122179	0.08931|0.08931	.|.	.|.	ENSG00000172671|ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370|ENST00000374371;ENST00000374376	T;T|T	0.24350|0.51574	1.86;1.86|0.7	5.99|5.99	1.19|1.19	0.21007|0.21007	Zinc finger, AN1-type (1);|.	0.366570|.	0.26166|.	N|.	0.025960|.	T|T	0.23410|0.23410	0.0566|0.0566	N|N	0.14661|0.14661	0.345|0.345	0.24428|0.24428	N|N	0.994582|0.994582	P|B	0.45715|0.02656	0.865|0.0	B|B	0.43575|0.01281	0.424|0.0	T|T	0.18209|0.18209	-1.0344|-1.0344	10|8	0.30854|.	T|.	0.27|.	-23.3424|-23.3424	1.766|1.766	0.03002|0.03002	0.1271:0.2149:0.4043:0.2537|0.1271:0.2149:0.4043:0.2537	.|.	657|204	Q86XD8|Q5VVY4	ANUB1_HUMAN|.	F|F	657;583;539|204	ENSP00000339484:L657F;ENSP00000363486:L583F|ENSP00000363491:S204F	ENSP00000339484:L657F|.	L|S	-|-	1|2	0|0	ANUBL1|ANUBL1	45433673|45433673	0.012000|0.012000	0.17670|0.17670	0.954000|0.954000	0.39281|0.39281	0.098000|0.098000	0.18820|0.18820	-0.482000|-0.482000	0.06544|0.06544	0.215000|0.215000	0.20761|0.20761	-0.262000|-0.262000	0.10625|0.10625	CTT|TCT	ZFAND4	-	NULL		0.413	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	G	NM_174890		46113667	-1	no_errors	ENST00000344646	ensembl	human	known	70_37	missense	SNP	0.888	A
ZFC3H1	196441	genome.wustl.edu	37	12	72013120	72013120	+	Missense_Mutation	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr12:72013120T>C	ENST00000378743.3	-	27	5477	c.5119A>G	c.(5119-5121)Aag>Gag	p.K1707E		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1707					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTATTATACTTCTCAAACCCC	0.348																																																	0													66.0	62.0	63.0					12																	72013120		1815	4078	5893	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5119A>G	12.37:g.72013120T>C	ENSP00000368017:p.Lys1707Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.K1707E	ENST00000378743.3	37	c.5119	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	T	8.663	0.900932	0.17760	.	.	ENSG00000133858	ENST00000378743	T	0.28255	1.62	5.55	3.19	0.36642	Tetratricopeptide-like helical (1);	0.394745	0.25978	N	0.027095	T	0.09598	0.0236	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12192	-1.0557	10	0.07990	T	0.79	.	2.9657	0.05907	0.0:0.3254:0.2418:0.4328	.	1707	O60293	ZC3H1_HUMAN	E	1707	ENSP00000368017:K1707E	ENSP00000368017:K1707E	K	-	1	0	ZFC3H1	70299387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.306000	0.33505	0.929000	0.37192	0.533000	0.62120	AAG	ZFC3H1	-	NULL		0.348	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	T	NM_144982		72013120	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFHX3	463	genome.wustl.edu	37	16	72831052	72831052	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:72831052C>G	ENST00000268489.5	-	9	6201	c.5529G>C	c.(5527-5529)caG>caC	p.Q1843H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.Q929H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1843					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GATGGCTCTGCTGTGGGACCT	0.597																																																	0													90.0	90.0	90.0					16																	72831052		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5529G>C	16.37:g.72831052C>G	ENSP00000268489:p.Gln1843His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.Q1843H	ENST00000268489.5	37	c.5529	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660635	0.29515	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.72835	-0.69;-0.67	6.03	4.1	0.47936	.	0.140180	0.32416	N	0.006123	T	0.56514	0.1990	N	0.03154	-0.405	0.53005	D	0.999964	D	0.67145	0.996	P	0.59703	0.862	T	0.53599	-0.8416	10	0.08179	T	0.78	.	9.9447	0.41602	0.0:0.7367:0.0:0.2632	.	1843	Q15911	ZFHX3_HUMAN	H	1843;929	ENSP00000268489:Q1843H;ENSP00000438926:Q929H	ENSP00000268489:Q1843H	Q	-	3	2	ZFHX3	71388553	0.994000	0.37717	1.000000	0.80357	0.970000	0.65996	0.385000	0.20685	0.889000	0.36185	0.655000	0.94253	CAG	ZFHX3	-	NULL		0.597	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72831052	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	G
ZFHX4	79776	genome.wustl.edu	37	8	77767198	77767198	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:77767198C>T	ENST00000521891.2	+	10	8489	c.8041C>T	c.(8041-8043)Cga>Tga	p.R2681*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.R2636*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.R2636*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.R2655*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2636					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCGTTTTGCCGAGCCCTGTT	0.557										HNSCC(33;0.089)																																							0													57.0	57.0	57.0					8																	77767198		1943	4140	6083	SO:0001587	stop_gained	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8041C>T	8.37:g.77767198C>T	ENSP00000430497:p.Arg2681*	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.R2681*	ENST00000521891.2	37	c.8041	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	C	48	14.560575	0.99801	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.18	2.01	0.26516	.	0.000000	0.37136	U	0.002231	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5431	0.68011	0.6579:0.3421:0.0:0.0	.	.	.	.	X	2681;2665;2636;2636;2655	.	ENSP00000050961:R2636X	R	+	1	2	ZFHX4	77929753	1.000000	0.71417	0.998000	0.56505	0.224000	0.24922	1.463000	0.35277	0.166000	0.19597	-0.410000	0.06199	CGA	ZFHX4	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	C	NM_024721		77767198	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZFP1	162239	genome.wustl.edu	37	16	75203198	75203198	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:75203198G>A	ENST00000393430.2	+	4	314	c.190G>A	c.(190-192)Gac>Aac	p.D64N	ZFP1_ENST00000563356.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.D64N|ZFP1_ENST00000567481.1_Silent_p.Q69Q|ZFP1_ENST00000568079.1_Silent_p.Q21Q|ZFP1_ENST00000332307.4_Missense_Mutation_p.D31N|ZFP1_ENST00000464850.1_Silent_p.Q69Q			Q6P2D0	ZFP1_HUMAN	ZFP1 zinc finger protein	64	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	12						CAGAAACCCAGACGAGCAGGC	0.438																																					NSCLC(187;1429 2122 10143 20357 42217)												0													68.0	79.0	75.0					16																	75203198		2198	4300	6498	SO:0001583	missense	162239			AK094761	CCDS10914.2	16q22.3	2013-01-08	2012-11-27		ENSG00000184517	ENSG00000184517		"""Zinc fingers, C2H2-type"", ""-"""	23328	protein-coding gene	gene with protein product			"""zinc finger protein 1 homolog (mouse)"", ""zinc finger protein 1"""			2574853	Standard	NM_153688		Approved	FLJ34243, ZNF475	uc002fdo.3	Q6P2D0	OTTHUMG00000137602	ENST00000393430.2:c.190G>A	16.37:g.75203198G>A	ENSP00000377080:p.Asp64Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Q7|B4DKG9|Q8N188|Q8N9F9	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.D64N	ENST00000393430.2	37	c.190	CCDS10914.2	16	.	.	.	.	.	.	.	.	.	.	G	3.491	-0.103805	0.06967	.	.	ENSG00000184517	ENST00000332307;ENST00000393430	T	0.06768	3.26	5.04	3.05	0.35203	Krueppel-associated box (3);	0.941777	0.08812	N	0.890042	T	0.05593	0.0147	N	0.17474	0.49	0.09310	N	0.999995	B	0.10296	0.003	B	0.10450	0.005	T	0.44877	-0.9299	10	0.20046	T	0.44	-5.2582	7.3795	0.26847	0.0903:0.1674:0.7423:0.0	.	64	Q6P2D0	ZFP1_HUMAN	N	64	ENSP00000377080:D64N	ENSP00000333192:D64N	D	+	1	0	ZFP1	73760699	0.158000	0.22850	0.038000	0.18304	0.121000	0.20230	0.797000	0.26999	0.818000	0.34468	0.561000	0.74099	GAC	ZFP1	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZFP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP1	HGNC	protein_coding	OTTHUMT00000269013.2	G	NM_153688		75203198	+1	no_errors	ENST00000393430	ensembl	human	known	70_37	missense	SNP	0.004	A
ZFP28	140612	genome.wustl.edu	37	19	57065696	57065696	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57065696C>T	ENST00000301318.3	+	8	1613	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGAAAGCCTTCAGTGACCACA	0.438																																					Ovarian(124;554 1662 19430 21141 52494)												0													83.0	70.0	74.0					19																	57065696		2203	4300	6503	SO:0001819	synonymous_variant	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1542C>T	19.37:g.57065696C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	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.F514	ENST00000301318.3	37	c.1542	CCDS12946.1	19																																																																																			ZFP28	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP28	HGNC	protein_coding	OTTHUMT00000458409.1	C	NM_020828		57065696	+1	no_errors	ENST00000301318	ensembl	human	known	70_37	silent	SNP	0.999	T
MOG	4340	genome.wustl.edu	37	6	29640768	29640768	+	IGR	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:29640768G>A	ENST00000376917.3	+	0	2160				ZFP57_ENST00000488757.1_Missense_Mutation_p.H374Y|ZFP57_ENST00000376881.3_Missense_Mutation_p.H354Y|ZFP57_ENST00000376883.1_Missense_Mutation_p.H354Y	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCACTGGATGAGAGTTGGAT	0.517																																																	0													301.0	324.0	316.0					6																	29640768		1255	2556	3811	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29640768G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	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.H374Y	ENST00000376917.3	37	c.1120	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	G	0.899	-0.722998	0.03158	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.05649	3.41;3.64;3.64	3.94	-2.87	0.05700	.	2.218570	0.02542	N	0.094732	T	0.01940	0.0061	L	0.53617	1.68	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46076	-0.9217	10	0.62326	D	0.03	3.1806	1.3551	0.02180	0.1646:0.2468:0.3371:0.2516	.	374;354	Q9NU63-3;Q9NU63-2	.;.	Y	374;354;354	ENSP00000418259:H374Y;ENSP00000366078:H354Y;ENSP00000366080:H354Y	ENSP00000366078:H354Y	H	-	1	0	ZFP57	29748747	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.617000	0.05584	-0.641000	0.05487	-0.244000	0.11960	CAT	ZFP57	-	NULL		0.517	MOG-001	KNOWN	basic|CCDS	protein_coding	ZFP57	HGNC	protein_coding	OTTHUMT00000076160.3	G	NM_002433		29640768	-1	no_errors	ENST00000488757	ensembl	human	known	70_37	missense	SNP	0.000	A
ZFPM2	23414	genome.wustl.edu	37	8	106813964	106813964	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:106813964G>C	ENST00000407775.2	+	8	1904	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	ZFPM2_ENST00000378472.4_Missense_Mutation_p.E283Q|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E420Q|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E420Q|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	552					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TACTTGTTTTGAGTGTAACAT	0.468																																																	0													83.0	87.0	86.0					8																	106813964		1925	4114	6039	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1654G>C	8.37:g.106813964G>C	ENSP00000384179:p.Glu552Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E552Q	ENST00000407775.2	37	c.1654	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414946	0.83449	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.97	5.97	0.96955	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.52852	-0.8520	10	0.40728	T	0.16	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	552	Q8WW38	FOG2_HUMAN	Q	552;420;420;283	ENSP00000384179:E552Q;ENSP00000430757:E420Q;ENSP00000428720:E420Q;ENSP00000367733:E283Q	ENSP00000367733:E283Q	E	+	1	0	ZFPM2	106883140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GAG	ZFPM2	-	smart_Znf_C2H2-like		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	G			106813964	+1	no_errors	ENST00000407775	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFYVE26	23503	genome.wustl.edu	37	14	68282646	68282646	+	Missense_Mutation	SNP	G	G	A	rs200174594		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr14:68282646G>A	ENST00000347230.4	-	2	173	c.35C>T	c.(34-36)tCg>tTg	p.S12L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S12L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	12					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGCTTCTGCGAAGCAGCTTC	0.483																																																	0													36.0	36.0	36.0					14																	68282646		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.35C>T	14.37:g.68282646G>A	ENSP00000251119:p.Ser12Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S12L	ENST00000347230.4	37	c.35	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531540	0.85706	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.35236	1.48;1.32	5.89	5.89	0.94794	.	0.111526	0.64402	D	0.000007	T	0.50171	0.1600	L	0.59436	1.845	0.45025	D	0.998049	D;P;P	0.69078	0.997;0.949;0.772	P;P;B	0.51453	0.67;0.455;0.122	T	0.49899	-0.8890	10	0.72032	D	0.01	-14.0674	20.2576	0.98430	0.0:0.0:1.0:0.0	.	12;12;12	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	L	12	ENSP00000251119:S12L;ENSP00000450603:S12L	ENSP00000251119:S12L	S	-	2	0	ZFYVE26	67352399	1.000000	0.71417	0.964000	0.40570	0.976000	0.68499	7.801000	0.85960	2.783000	0.95769	0.655000	0.94253	TCG	ZFYVE26	-	NULL		0.483	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68282646	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	0.981	A
ZHX3	23051	genome.wustl.edu	37	20	39831522	39831522	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:39831522C>T	ENST00000309060.3	-	4	2450	c.2035G>A	c.(2035-2037)Gcc>Acc	p.A679T	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.A679T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A679T|ZHX3_ENST00000544979.2_Missense_Mutation_p.A679T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A679T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A679T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	679					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				TCCTGAGAGGCATTCTCCTCA	0.498																																																	0													130.0	126.0	128.0					20																	39831522		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2035G>A	20.37:g.39831522C>T	ENSP00000312222:p.Ala679Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.A679T	ENST00000309060.3	37	c.2035	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.347|3.347	-0.133341|-0.133341	0.06711|0.06711	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262|ENST00000421422	T;T;T|.	0.13089|.	2.83;2.83;2.62|.	6.06|6.06	-0.624|-0.624	0.11552|0.11552	Homeodomain-related (1);Homeodomain-like (1);|.	0.925515|.	0.09237|.	N|.	0.829741|.	T|T	0.34366|0.34366	0.0895|0.0895	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;B;B|.	0.09022|.	0.0;0.0;0.002|.	B;B;B|.	0.09377|.	0.001;0.001;0.004|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|5	0.14252|.	T|.	0.57|.	-0.293|-0.293	2.5408|2.5408	0.04725|0.04725	0.1181:0.4604:0.229:0.1925|0.1181:0.4604:0.229:0.1925	.|.	679;679;679|.	A8K8Q0;Q9H4I2;F5H820|.	.;ZHX3_HUMAN;.|.	T|Y	679;679;679;679;457|387	ENSP00000362360:A679T;ENSP00000442290:A679T;ENSP00000443783:A679T|.	ENSP00000312222:A679T|.	A|C	-|-	1|2	0|0	ZHX3|ZHX3	39264936|39264936	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.321000|0.321000	0.28281|0.28281	0.118000|0.118000	0.15605|0.15605	-0.297000|-0.297000	0.08934|0.08934	-0.133000|-0.133000	0.14855|0.14855	GCC|TGC	ZHX3	-	superfamily_Homeodomain-like		0.498	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39831522	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	0.000	T
ZIC4	84107	genome.wustl.edu	37	3	147106079	147106079	+	3'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:147106079C>T	ENST00000383075.3	-	0	2084				ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000525172.2_3'UTR|ZIC4-AS1_ENST00000462168.1_RNA|ZIC4_ENST00000425731.3_3'UTR	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GATGCACCGTCAAACTCACAC	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	84107			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.*567G>A	3.37:g.147106079C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	RNA	SNP	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			ZIC4	-	-		0.512	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355504.1	C			147106079	-1	no_errors	ENST00000472749	ensembl	human	known	70_37	rna	SNP	1.000	T
ZIC4	84107	genome.wustl.edu	37	3	147121823	147121823	+	5'UTR	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:147121823C>T	ENST00000484399.1	-	0	248				ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Silent_p.R21R|ZIC4_ENST00000473123.1_Intron|ZIC4_ENST00000383075.3_Intron|ZIC4_ENST00000425731.3_Intron			Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTAATAAGCTCCTTCCAGCAC	0.483																																																	0													68.0	58.0	61.0					3																	147121823		692	1591	2283	SO:0001623	5_prime_UTR_variant	84107			AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000484399.1:c.-88G>A	3.37:g.147121823C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R21	ENST00000484399.1	37	c.63	CCDS43160.1	3																																																																																			ZIC4	-	NULL		0.483	ZIC4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZIC4	HGNC	protein_coding	OTTHUMT00000355507.1	C			147121823	-1	no_errors	ENST00000525172	ensembl	human	known	70_37	silent	SNP	0.638	T
ZMYM6	9204	genome.wustl.edu	37	1	35454253	35454253	+	Missense_Mutation	SNP	T	T	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:35454253T>A	ENST00000357182.4	-	16	2657	c.2430A>T	c.(2428-2430)gaA>gaT	p.E810D	ZMYM6_ENST00000373340.2_Intron|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	810					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				gacattccatttctaaagatt	0.299																																																	0													19.0	16.0	17.0					1																	35454253		1209	2763	3972	SO:0001583	missense	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2430A>T	1.37:g.35454253T>A	ENSP00000349708:p.Glu810Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.E810D	ENST00000357182.4	37	c.2430	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	T	9.253	1.041332	0.19669	.	.	ENSG00000163867	ENST00000357182	T	0.09073	3.02	3.94	3.94	0.45596	.	0.744958	0.12130	N	0.496872	T	0.07188	0.0182	L	0.35854	1.095	0.80722	D	1	B	0.18863	0.031	B	0.14023	0.01	T	0.18178	-1.0345	10	0.15066	T	0.55	-6.8753	9.4198	0.38544	0.0:0.0:0.0:1.0	.	810	O95789	ZMYM6_HUMAN	D	810	ENSP00000349708:E810D	ENSP00000349708:E810D	E	-	3	2	ZMYM6	35226840	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.628000	0.24522	1.778000	0.52293	0.533000	0.62120	GAA	ZMYM6	-	NULL		0.299	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	T	NM_007167		35454253	-1	no_errors	ENST00000357182	ensembl	human	known	70_37	missense	SNP	1.000	A
ZMYM1	79830	genome.wustl.edu	37	1	35579238	35579238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:35579238C>T	ENST00000373330.1	+	11	1981	c.1807C>T	c.(1807-1809)Cga>Tga	p.R603*	ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.R603*|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	603						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGAAACATTTCGACTTATGAA	0.313																																																	0													44.0	43.0	43.0					1																	35579238		1828	4066	5894	SO:0001587	stop_gained	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1807C>T	1.37:g.35579238C>T	ENSP00000362427:p.Arg603*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPR7|Q7Z3Q4	Nonsense_Mutation	SNP	pfam_Znf_MYM,pfam_HATC,superfamily_RNaseH-like_dom,smart_TRASH	p.R603*	ENST00000373330.1	37	c.1807	CCDS41302.1	1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600403	0.66332	.	.	ENSG00000197056	ENST00000359858;ENST00000373329;ENST00000373330	.	.	.	4.44	3.51	0.40186	.	0.540328	0.15615	N	0.253162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2192	5.5425	0.17045	0.1987:0.703:0.0:0.0983	.	.	.	.	X	603;528;603	.	.	R	+	1	2	ZMYM1	35351825	0.001000	0.12720	0.254000	0.24359	0.435000	0.31806	-0.559000	0.05971	1.417000	0.47077	0.591000	0.81541	CGA	ZMYM1	-	NULL		0.313	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZMYM1	HGNC	protein_coding	OTTHUMT00000012705.1	C	NM_024772		35579238	+1	no_errors	ENST00000359858	ensembl	human	known	70_37	nonsense	SNP	0.071	T
ZMYND11	10771	genome.wustl.edu	37	10	267251	267251	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:267251C>G	ENST00000397962.3	+	4	821	c.393C>G	c.(391-393)ttC>ttG	p.F131L	ZMYND11_ENST00000381604.4_Missense_Mutation_p.F91L|ZMYND11_ENST00000509513.2_Missense_Mutation_p.F131L|ZMYND11_ENST00000558098.2_Missense_Mutation_p.F131L|ZMYND11_ENST00000381591.1_Missense_Mutation_p.F131L|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381602.4_Missense_Mutation_p.F91L|ZMYND11_ENST00000381607.4_Intron|ZMYND11_ENST00000309776.4_Missense_Mutation_p.F91L|ZMYND11_ENST00000402736.1_Missense_Mutation_p.F131L|ZMYND11_ENST00000403354.1_Intron|ZMYND11_ENST00000381584.1_Missense_Mutation_p.F114L|ZMYND11_ENST00000545619.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	131					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGATGAGTTCAGGCTTAGAG	0.443																																																	0													284.0	246.0	259.0					10																	267251		2203	4300	6503	SO:0001583	missense	10771			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.393C>G	10.37:g.267251C>G	ENSP00000381053:p.Phe131Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.F131L	ENST00000397962.3	37	c.393	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	C	10.41	1.343457	0.24339	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000381591;ENST00000402736;ENST00000381604;ENST00000397955;ENST00000381584	D;D;D;D;D;D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97;-1.97	5.65	5.65	0.86999	.	0.162302	0.56097	D	0.000029	T	0.54240	0.1846	N	0.00155	-1.965	0.52501	D	0.999955	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.63161	-0.6699	9	0.10902	T	0.67	-14.5917	14.5518	0.68073	0.1463:0.8537:0.0:0.0	.	131;131;91;131	Q2LD45;Q2LD48;B0QZE3;E7ENI9	.;.;.;.	L	131;91;91;131;131;131;91;146;114	ENSP00000381053:F131L;ENSP00000309992:F91L;ENSP00000371015:F91L;ENSP00000424205:F131L;ENSP00000371003:F131L;ENSP00000386010:F131L;ENSP00000371017:F91L;ENSP00000381046:F146L;ENSP00000370996:F114L	ENSP00000309992:F91L	F	+	3	2	ZMYND11	257251	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.510000	0.60455	2.647000	0.89833	0.655000	0.94253	TTC	ZMYND11	-	superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.443	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	C	NM_006624		267251	+1	no_errors	ENST00000381591	ensembl	human	known	70_37	missense	SNP	1.000	G
ZMYND8	23613	genome.wustl.edu	37	20	45853105	45853105	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:45853105C>T	ENST00000311275.7	-	19	3314	c.3061G>A	c.(3061-3063)Gag>Aag	p.E1021K	ZMYND8_ENST00000540497.1_Missense_Mutation_p.E969K|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E1021K|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E970K|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E995K|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E995K|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E1021K|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E912K|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E889K|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E1041K|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E943K|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E975K|ZMYND8_ENST00000536340.1_Missense_Mutation_p.E1048K	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1021					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTCTTGGTCTCATCCACCGCC	0.592																																																	0													229.0	186.0	201.0					20																	45853105		2203	4300	6503	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3061G>A	20.37:g.45853105C>T	ENSP00000312237:p.Glu1021Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.E1048K	ENST00000311275.7	37	c.3142		20	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001491	0.93227	.	.	ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	T;T;T;T;T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57;0.57	5.45	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	M	0.80982	2.52	0.58432	D	0.999993	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.007;0.999;0.997;0.998;0.999;0.998;0.999;0.998;0.998;0.997;0.997;0.997;0.996;0.995;0.998;0.997	B;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.012;0.998;0.995;0.991;0.998;0.998;0.996;0.996;0.998;0.995;0.995;0.995;0.983;0.98;0.991;0.995	T	0.77930	-0.2403	10	0.87932	D	0	-9.5423	14.4075	0.67093	0.0:0.9289:0.0:0.0711	.	889;1048;943;950;1041;975;970;995;995;1021;912;970;969;914;923;1021	B7ZM62;F5H0X3;Q2HXV3;Q5TH11;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8	.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.	K	970;1021;889;976;1042;995;1021;1048;1021;912;995;943;969	ENSP00000354166:E970K;ENSP00000312237:E1021K;ENSP00000392964:E889K;ENSP00000335537:E995K;ENSP00000379577:E1021K;ENSP00000439800:E1048K;ENSP00000348246:E1021K;ENSP00000396725:E912K;ENSP00000418210:E995K;ENSP00000361093:E943K;ENSP00000443086:E969K	ENSP00000262975:E976K	E	-	1	0	ZMYND8	45286512	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.767000	0.85331	1.291000	0.44653	0.655000	0.94253	GAG	ZMYND8	-	NULL		0.592	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	HGNC	protein_coding	OTTHUMT00000079596.2	C	NM_183047		45853105	-1	no_errors	ENST00000536340	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF101	94039	genome.wustl.edu	37	19	19788738	19788738	+	Silent	SNP	T	T	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:19788738T>C	ENST00000592502.1	+	2	179	c.69T>C	c.(67-69)ccT>ccC	p.P23P	ZNF101_ENST00000444249.2_Silent_p.P23P|ZNF101_ENST00000415784.2_5'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	23	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)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TGCTGAGTCCTTCCCAGAAGA	0.522																																																	0													113.0	109.0	111.0					19																	19788738		2203	4300	6503	SO:0001819	synonymous_variant	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.69T>C	19.37:g.19788738T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JU83|Q0VDG9	Silent	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.P23	ENST00000592502.1	37	c.69	CCDS32971.1	19																																																																																			ZNF101	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.522	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	T	NM_033204		19788738	+1	no_errors	ENST00000318110	ensembl	human	known	70_37	silent	SNP	0.808	C
ZNF132	7691	genome.wustl.edu	37	19	58945830	58945830	+	Silent	SNP	G	G	A	rs367676677		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58945830G>A	ENST00000254166.3	-	3	1381	c.981C>T	c.(979-981)acC>acT	p.T327T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	327					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		TGTGGTTGAAGGTTTTCCCAC	0.413																																																	0													78.0	77.0	77.0					19																	58945830		2203	4300	6503	SO:0001819	synonymous_variant	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.981C>T	19.37:g.58945830G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MI9	Silent	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.T327	ENST00000254166.3	37	c.981	CCDS12980.1	19																																																																																			ZNF132	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	HGNC	protein_coding	OTTHUMT00000467035.1	G	NM_003433		58945830	-1	no_errors	ENST00000254166	ensembl	human	known	70_37	silent	SNP	0.021	A
ZNF132	7691	genome.wustl.edu	37	19	58948493	58948493	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58948493C>T	ENST00000254166.3	-	2	553	c.153G>A	c.(151-153)gaG>gaA	p.E51E		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	51	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGAGCTCCCACTCCTCTTGGG	0.512																																																	0													123.0	94.0	103.0					19																	58948493		2203	4300	6503	SO:0001819	synonymous_variant	7691			U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.153G>A	19.37:g.58948493C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MI9	Silent	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.E51	ENST00000254166.3	37	c.153	CCDS12980.1	19																																																																																			ZNF132	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.512	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF132	HGNC	protein_coding	OTTHUMT00000467035.1	C	NM_003433		58948493	-1	no_errors	ENST00000254166	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF133	7692	genome.wustl.edu	37	20	18297521	18297521	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:18297521G>C	ENST00000316358.4	+	0	2123				ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_3'UTR|ZNF133_ENST00000402618.2_3'UTR|ZNF133_ENST00000401790.1_3'UTR|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_3'UTR|ZNF133_ENST00000377671.3_3'UTR|ZNF133_ENST00000538547.1_3'UTR	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAATGGAGTAGAGAAATGCAT	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	7692			AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.*61G>C	20.37:g.18297521G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	RNA	SNP	-	NULL	ENST00000316358.4	37	NULL		20																																																																																			ZNF133	-	-		0.423	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	ZNF133	HGNC	protein_coding	OTTHUMT00000127616.1	G	NM_003434		18297521	+1	no_errors	ENST00000462170	ensembl	human	known	70_37	rna	SNP	0.007	C
ZNF16	7564	genome.wustl.edu	37	8	146157398	146157398	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:146157398G>A	ENST00000276816.4	-	4	961	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ZNF16_ENST00000394909.2_Missense_Mutation_p.H259Y	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	259					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to sodium dodecyl sulfate (GO:0072707)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell cycle phase transition (GO:1901989)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of kinase activity (GO:0033674)|positive regulation of megakaryocyte differentiation (GO:0045654)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TCACTCATATGAGATCGATGA	0.488																																																	0													134.0	137.0	136.0					8																	146157398		2203	4300	6503	SO:0001583	missense	7564			X52340	CCDS6437.1	8q24	2013-01-08	2006-05-10		ENSG00000170631	ENSG00000170631		"""Zinc fingers, C2H2-type"""	12947	protein-coding gene	gene with protein product		601262	"""zinc finger protein 16 (KOX 9)"""				Standard	NM_006958		Approved	KOX9	uc003zeu.3	P17020	OTTHUMG00000165253	ENST00000276816.4:c.775C>T	8.37:g.146157398G>A	ENSP00000276816:p.His259Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXM4|D3DWP2|Q45SH7|Q96FG0|Q9NRA4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H259Y	ENST00000276816.4	37	c.775	CCDS6437.1	8	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635915	0.29068	.	.	ENSG00000170631	ENST00000276816;ENST00000394909	T;T	0.26518	1.73;1.73	3.78	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40067	0.1102	M	0.93375	3.41	0.09310	N	1	B	0.23937	0.094	B	0.30105	0.111	T	0.45614	-0.9249	9	0.87932	D	0	.	6.7775	0.23628	0.0983:0.0:0.7256:0.1761	.	259	P17020	ZNF16_HUMAN	Y	259	ENSP00000276816:H259Y;ENSP00000378369:H259Y	ENSP00000276816:H259Y	H	-	1	0	ZNF16	146128202	0.749000	0.28305	0.004000	0.12327	0.004000	0.04260	3.470000	0.53100	0.270000	0.21984	-0.261000	0.10672	CAT	ZNF16	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	ZNF16-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF16	HGNC	protein_coding	OTTHUMT00000382978.1	G	NM_006958		146157398	-1	no_errors	ENST00000276816	ensembl	human	known	70_37	missense	SNP	0.030	A
ZNF17	7565	genome.wustl.edu	37	19	57931647	57931647	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57931647C>G	ENST00000601808.1	+	3	1000	c.787C>G	c.(787-789)Caa>Gaa	p.Q263E	ZNF17_ENST00000307658.7_Missense_Mutation_p.Q265E|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	263					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CAATGTTGTTCAACACCAGAA	0.413																																					Melanoma(149;1637 1853 29914 42869 44988)												0													73.0	78.0	76.0					19																	57931647		2203	4300	6503	SO:0001583	missense	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.787C>G	19.37:g.57931647C>G	ENSP00000471905:p.Gln263Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	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.Q263E	ENST00000601808.1	37	c.787	CCDS42636.1	19	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.635878	0.00806	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.45	-4.5	0.03493	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07863	0.0197	N	0.03917	-0.325	0.09310	N	1	B;B	0.21753	0.06;0.002	B;B	0.16722	0.016;0.005	T	0.31166	-0.9953	8	0.02654	T	1	.	1.8522	0.03172	0.1745:0.2743:0.4146:0.1366	.	265;263	P17021-2;P17021	.;ZNF17_HUMAN	E	263	.	ENSP00000302455:Q263E	Q	+	1	0	ZNF17	62623459	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-5.077000	0.00153	-0.720000	0.04935	0.650000	0.86243	CAA	ZNF17	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF17	HGNC	protein_coding	OTTHUMT00000466384.1	C	NM_006959		57931647	+1	no_errors	ENST00000601808	ensembl	human	known	70_37	missense	SNP	0.000	G
ZKSCAN8	7745	genome.wustl.edu	37	6	28120986	28120986	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:28120986G>C	ENST00000330236.6	+	6	1112	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.E310Q	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	310	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGGCAGATTAGAGAGGCAGCG	0.512																																																	0													80.0	82.0	81.0					6																	28120986		2203	4300	6503	SO:0001583	missense	7745				CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.928G>C	6.37:g.28120986G>C	ENSP00000332750:p.Glu310Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E310Q	ENST00000330236.6	37	c.928	CCDS4645.1	6	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901674	0.33535	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.06608	3.28;3.28	5.74	5.74	0.90152	Krueppel-associated box (1);	0.103785	0.43110	D	0.000605	T	0.02649	0.0080	N	0.12182	0.205	0.80722	D	1	D	0.53885	0.963	P	0.47528	0.549	T	0.62492	-0.6843	10	0.16420	T	0.52	.	15.8024	0.78463	0.0:0.0:1.0:0.0	.	310	Q15776	ZN192_HUMAN	Q	310	ENSP00000332750:E310Q;ENSP00000402948:E310Q	ENSP00000332750:E310Q	E	+	1	0	ZNF192	28228965	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.195000	0.42677	2.884000	0.98904	0.655000	0.94253	GAG	ZNF192	-	pfscan_Krueppel-associated_box		0.512	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF192	HGNC	protein_coding	OTTHUMT00000040178.2	G			28120986	+1	no_errors	ENST00000330236	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF195	7748	genome.wustl.edu	37	11	3381540	3381540	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr11:3381540C>G	ENST00000399602.4	-	6	824	c.698G>C	c.(697-699)aGa>aCa	p.R233T	ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000354599.6_Missense_Mutation_p.R161T|ZNF195_ENST00000005082.9_Missense_Mutation_p.R210T|ZNF195_ENST00000429541.2_Missense_Mutation_p.R165T|ZNF195_ENST00000343338.7_Missense_Mutation_p.R165T|ZNF195_ENST00000526601.1_Missense_Mutation_p.R214T|ZNF195_ENST00000528796.1_Intron	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	233	Spacer.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATATTACGTCTATGTAAATT	0.289																																																	0													35.0	34.0	34.0					11																	3381540		1870	4130	6000	SO:0001583	missense	7748				CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.698G>C	11.37:g.3381540C>G	ENSP00000382511:p.Arg233Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	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.R233T	ENST00000399602.4	37	c.698	CCDS44522.1	11	.	.	.	.	.	.	.	.	.	.	c	1.615	-0.523061	0.04141	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601;ENST00000528410	T;T;T;T;T;T;T	0.29397	2.37;2.37;2.37;2.37;2.37;2.37;1.57	0.742	-1.48	0.08745	.	.	.	.	.	T	0.41282	0.1152	L	0.48986	1.54	0.09310	N	1	B;P;B;P;D;P	0.59357	0.023;0.956;0.13;0.945;0.985;0.945	B;P;B;P;D;P	0.69824	0.035;0.849;0.077;0.765;0.966;0.765	T	0.30149	-0.9988	9	0.46703	T	0.11	.	5.644	0.17579	0.0:0.4589:0.0:0.5411	.	214;92;210;165;233;161	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	T	161;233;165;165;210;214;188	ENSP00000346613:R161T;ENSP00000382511:R233T;ENSP00000344483:R165T;ENSP00000387998:R165T;ENSP00000005082:R210T;ENSP00000435828:R214T;ENSP00000431937:R188T	ENSP00000005082:R210T	R	-	2	0	ZNF195	3338116	0.024000	0.19004	0.000000	0.03702	0.004000	0.04260	-0.589000	0.05767	-1.123000	0.02940	-0.671000	0.03813	AGA	ZNF195	-	NULL		0.289	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF195	HGNC	protein_coding	OTTHUMT00000032321.2	C			3381540	-1	no_errors	ENST00000399602	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF224	7767	genome.wustl.edu	37	19	44610712	44610712	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:44610712G>C	ENST00000336976.6	+	6	653	c.399G>C	c.(397-399)caG>caC	p.Q133H	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	133					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TCCCCTGCCAGACTGAGGCAG	0.418																																																	0													95.0	94.0	94.0					19																	44610712		2203	4300	6503	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.399G>C	19.37:g.44610712G>C	ENSP00000337368:p.Gln133His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	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.Q133H	ENST00000336976.6	37	c.399	CCDS33046.1	19	.	.	.	.	.	.	.	.	.	.	g	6.161	0.397929	0.11696	.	.	ENSG00000186019	ENST00000336976	T	0.06294	3.32	2.47	-2.72	0.05968	.	.	.	.	.	T	0.06371	0.0164	L	0.54323	1.7	0.09310	N	1	B	0.28324	0.207	B	0.31337	0.128	T	0.38156	-0.9674	9	0.40728	T	0.16	.	4.1312	0.10149	0.3569:0.1767:0.4665:0.0	.	133	Q9NZL3	ZN224_HUMAN	H	133	ENSP00000337368:Q133H	ENSP00000337368:Q133H	Q	+	3	2	ZNF224	49302552	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.831000	0.00743	-0.518000	0.06452	-0.282000	0.10007	CAG	ZNF224	-	NULL		0.418	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF224	HGNC	protein_coding	OTTHUMT00000460477.1	G	NM_013398		44610712	+1	no_errors	ENST00000336976	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF234	10780	genome.wustl.edu	37	19	44660812	44660812	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:44660812C>G	ENST00000426739.2	+	6	901	c.643C>G	c.(643-645)Cag>Gag	p.Q215E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q215E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GGAATTTAGTCAGAGCTCACA	0.418																																																	0													141.0	142.0	142.0					19																	44660812		2203	4300	6503	SO:0001583	missense	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.643C>G	19.37:g.44660812C>G	ENSP00000400878:p.Gln215Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	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.Q215E	ENST00000426739.2	37	c.643	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812081	0.32053	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.07327	3.2	4.19	3.16	0.36331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07143	0.0181	L	0.35249	1.045	0.09310	N	1	P	0.46327	0.876	B	0.41988	0.372	T	0.28650	-1.0037	9	0.42905	T	0.14	.	6.3318	0.21274	0.1828:0.7198:0.0:0.0974	.	215	Q14588	ZN234_HUMAN	E	215;44	ENSP00000400878:Q215E	ENSP00000400878:Q215E	Q	+	1	0	ZNF226	49352652	0.000000	0.05858	0.063000	0.19743	0.723000	0.41478	-0.288000	0.08377	1.110000	0.41699	0.586000	0.80456	CAG	ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	C			44660812	+1	no_errors	ENST00000426739	ensembl	human	known	70_37	missense	SNP	0.015	G
ZNF233	353355	genome.wustl.edu	37	19	44777789	44777789	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:44777789G>A	ENST00000391958.2	+	5	1103	c.976G>A	c.(976-978)Ggc>Agc	p.G326S	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.G308S	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTTCAGTCAGGGCTCACATCT	0.522																																																	0													79.0	71.0	74.0					19																	44777789		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.976G>A	19.37:g.44777789G>A	ENSP00000375820:p.Gly326Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN78|B2RN79|Q86WL8	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.G326S	ENST00000391958.2	37	c.976	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	0.669	-0.802705	0.02841	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.13307	2.6;2.6	3.71	0.232	0.15381	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02455	0.0075	N	0.00554	-1.385	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	9	0.02654	T	1	-0.8126	3.7581	0.08593	0.5917:0.1897:0.2186:0.0	.	326	A6NK53	ZN233_HUMAN	S	308;326;247	ENSP00000334957:G308S;ENSP00000375820:G326S	ENSP00000280305:G247S	G	+	1	0	ZNF233	49469629	0.000000	0.05858	0.003000	0.11579	0.307000	0.27823	-0.176000	0.09811	-0.128000	0.11641	-0.320000	0.08662	GGC	ZNF233	-	NULL		0.522	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	G	NM_181756		44777789	+1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF236	7776	genome.wustl.edu	37	18	74580682	74580682	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:74580682G>A	ENST00000253159.8	+	4	597	c.399G>A	c.(397-399)caG>caA	p.Q133Q	ZNF236_ENST00000320610.9_Silent_p.Q135Q|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	133					cellular response to glucose stimulus (GO:0071333)|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(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTACTCTGCAGAGTCAGCTGG	0.547																																																	0													132.0	143.0	139.0					18																	74580682		2068	4218	6286	SO:0001819	synonymous_variant	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.399G>A	18.37:g.74580682G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX9|Q9UL37	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q133	ENST00000253159.8	37	c.399	CCDS42447.1	18																																																																																			ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74580682	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF248	57209	genome.wustl.edu	37	10	38120890	38120890	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:38120890C>G	ENST00000395867.3	-	6	1943	c.1393G>C	c.(1393-1395)Gaa>Caa	p.E465Q	ZNF248_ENST00000357328.4_Missense_Mutation_p.E465Q|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	465					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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						GCATTACATTCATAGGGCTTC	0.438																																																	0													143.0	137.0	139.0					10																	38120890		2203	4300	6503	SO:0001583	missense	57209			AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1393G>C	10.37:g.38120890C>G	ENSP00000379208:p.Glu465Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDV8|Q9UMP3	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.E465Q	ENST00000395867.3	37	c.1393	CCDS7194.1	10	.	.	.	.	.	.	.	.	.	.	C	11.78	1.739902	0.30865	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.20200	2.09;2.09	4.44	3.53	0.40419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.261428	0.27518	N	0.019005	T	0.11281	0.0275	N	0.05487	-0.04	0.26580	N	0.97341	B	0.27286	0.174	B	0.34722	0.188	T	0.15435	-1.0437	10	0.46703	T	0.11	.	5.8157	0.18492	0.1896:0.7105:0.0:0.1	.	465	Q8NDW4	ZN248_HUMAN	Q	465	ENSP00000379208:E465Q;ENSP00000349882:E465Q	ENSP00000349882:E465Q	E	-	1	0	ZNF248	38160896	0.000000	0.05858	1.000000	0.80357	0.663000	0.39108	-1.656000	0.01980	1.216000	0.43427	-0.157000	0.13467	GAA	ZNF248	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF248	HGNC	protein_coding	OTTHUMT00000047609.1	C	NM_021045		38120890	-1	no_errors	ENST00000357328	ensembl	human	known	70_37	missense	SNP	0.978	G
ZNF252P	286101	genome.wustl.edu	37	8	146202485	146202485	+	RNA	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:146202485C>T	ENST00000426361.2	-	0	1699					NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						AAAGCTTTTCCACACTCACTA	0.383																																																	0																																												286101			BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146202485C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000426361.2	37	NULL		8	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035805	0.54896	.	.	ENSG00000196922	ENST00000355436	.	.	.	2.97	2.97	0.34412	.	.	.	.	.	T	0.66607	0.2806	.	.	.	.	.	.	.	.	.	.	.	.	T	0.77993	-0.2378	4	0.66056	D	0.02	.	12.7828	0.57487	0.0:1.0:0.0:0.0	.	.	.	.	R	455	.	ENSP00000347611:G455R	G	-	1	0	ZNF252	146173289	0.866000	0.29940	1.000000	0.80357	0.995000	0.86356	1.901000	0.39838	1.479000	0.48272	0.514000	0.50259	GGA	ZNF252P	-	-		0.383	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	ZNF252P	HGNC	pseudogene	OTTHUMT00000451422.1	C	NR_023392		146202485	-1	no_errors	ENST00000426361	ensembl	human	known	70_37	rna	SNP	1.000	T
ZNF281	23528	genome.wustl.edu	37	1	200377147	200377147	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:200377147G>C	ENST00000294740.3	-	2	1811	c.1687C>G	c.(1687-1689)Caa>Gaa	p.Q563E	ZNF281_ENST00000367352.3_Missense_Mutation_p.Q527E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q563E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	563					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Q563*(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						ACAGACTGTTGGGAGACCATG	0.403																																																	1	Substitution - Nonsense(1)	breast(1)											72.0	66.0	68.0					1																	200377147		2203	4300	6503	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1687C>G	1.37:g.200377147G>C	ENSP00000294740:p.Gln563Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q563E	ENST00000294740.3	37	c.1687	CCDS1402.1	1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096730	0.36952	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.58210	0.35;0.35;0.35	5.49	5.49	0.81192	.	0.108957	0.64402	D	0.000005	T	0.53238	0.1784	M	0.66939	2.045	0.52099	D	0.999944	P;P	0.39782	0.688;0.462	B;B	0.33750	0.169;0.121	T	0.62086	-0.6928	10	0.87932	D	0	-4.6676	19.3861	0.94556	0.0:0.0:1.0:0.0	.	527;563	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	563;563;527;268	ENSP00000294740:Q563E;ENSP00000356322:Q563E;ENSP00000356321:Q527E	ENSP00000294740:Q563E	Q	-	1	0	ZNF281	198643770	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.394000	0.97261	2.565000	0.86533	0.655000	0.94253	CAA	ZNF281	-	NULL		0.403	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	G	NM_012482		200377147	-1	no_errors	ENST00000294740	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF318	24149	genome.wustl.edu	37	6	43323475	43323475	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:43323475C>T	ENST00000361428.2	-	4	1674	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	ZNF318_ENST00000318149.3_Missense_Mutation_p.D533N	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	533					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTCCTCATCTTCAATGTCG	0.473																																																	0													214.0	221.0	219.0					6																	43323475		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1597G>A	6.37:g.43323475C>T	ENSP00000354964:p.Asp533Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.D533N	ENST00000361428.2	37	c.1597	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442705	0.63067	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03065	4.06;4.06	6.17	6.17	0.99709	.	0.055346	0.64402	D	0.000001	T	0.06735	0.0172	L	0.32530	0.975	0.53005	D	0.999962	D	0.89917	1.0	D	0.85130	0.997	T	0.37957	-0.9683	10	0.48119	T	0.1	-15.4522	14.9567	0.71120	0.0:0.9326:0.0:0.0674	.	533	Q5VUA4	ZN318_HUMAN	N	533	ENSP00000323032:D533N;ENSP00000354964:D533N	ENSP00000323032:D533N	D	-	1	0	ZNF318	43431453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.508000	0.67006	2.941000	0.99782	0.655000	0.94253	GAT	ZNF318	-	NULL		0.473	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43323475	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF318	24149	genome.wustl.edu	37	6	43325332	43325332	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr6:43325332G>A	ENST00000361428.2	-	3	797	c.720C>T	c.(718-720)atC>atT	p.I240I	ZNF318_ENST00000318149.3_Silent_p.I240I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	240					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CATGACAACTGATATGGGGAC	0.488																																																	0													104.0	96.0	98.0					6																	43325332		2203	4300	6503	SO:0001819	synonymous_variant	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.720C>T	6.37:g.43325332G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	smart_Znf_U1	p.I240	ENST00000361428.2	37	c.720	CCDS4895.2	6																																																																																			ZNF318	-	NULL		0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	G	NM_014345		43325332	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	silent	SNP	0.959	A
ZNF32	7580	genome.wustl.edu	37	10	44139801	44139801	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:44139801C>G	ENST00000395797.1	-	3	707	c.519G>C	c.(517-519)caG>caC	p.Q173H	ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.Q173H|ZNF32_ENST00000485351.1_5'Flank|ZNF32-AS2_ENST00000418966.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	173					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)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CAAGGTTACTCTGATTCCTGA	0.468																																																	0													108.0	107.0	107.0					10																	44139801		2203	4300	6503	SO:0001583	missense	7580			U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.519G>C	10.37:g.44139801C>G	ENSP00000379143:p.Gln173His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q92951	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q173H	ENST00000395797.1	37	c.519	CCDS7206.1	10	.	.	.	.	.	.	.	.	.	.	C	10.43	1.349142	0.24426	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.07908	3.15;3.15	4.67	-0.508	0.11980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000263	T	0.03915	0.0110	N	0.11313	0.125	0.27183	N	0.960618	P	0.47034	0.889	B	0.40565	0.333	T	0.42481	-0.9449	10	0.41790	T	0.15	-14.9688	8.5888	0.33674	0.0:0.3927:0.0:0.6073	.	173	P17041	ZNF32_HUMAN	H	173	ENSP00000363556:Q173H;ENSP00000379143:Q173H	ENSP00000363556:Q173H	Q	-	3	2	ZNF32	43459807	0.000000	0.05858	0.998000	0.56505	0.989000	0.77384	-3.245000	0.00542	-0.082000	0.12640	-0.302000	0.09304	CAG	ZNF32	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF32	HGNC	protein_coding	OTTHUMT00000047723.1	C	NM_006973		44139801	-1	no_errors	ENST00000374433	ensembl	human	known	70_37	missense	SNP	0.872	G
ZNF326	284695	genome.wustl.edu	37	1	90487841	90487841	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:90487841C>G	ENST00000340281.4	+	11	1481	c.1338C>G	c.(1336-1338)gtC>gtG	p.V446V	ZNF326_ENST00000370447.3_Silent_p.V357V|ZNF326_ENST00000455342.2_Silent_p.V240V	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	446					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GAGAGAGTGTCTTGACTGCTA	0.313																																																	0													186.0	209.0	201.0					1																	90487841		2203	4298	6501	SO:0001819	synonymous_variant	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1338C>G	1.37:g.90487841C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	pfam_AKAP95	p.V446	ENST00000340281.4	37	c.1338	CCDS727.1	1																																																																																			ZNF326	-	pfam_AKAP95		0.313	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	C	NM_181781		90487841	+1	no_errors	ENST00000340281	ensembl	human	known	70_37	silent	SNP	0.996	G
ZNF33A	7581	genome.wustl.edu	37	10	38344896	38344896	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr10:38344896G>C	ENST00000458705.2	+	5	1999	c.1841G>C	c.(1840-1842)gGa>gCa	p.G614A	ZNF33A_ENST00000307441.9_Missense_Mutation_p.G614A|ZNF33A_ENST00000432900.2_Missense_Mutation_p.G621A|ZNF33A_ENST00000374618.3_Missense_Mutation_p.G615A|ZNF33A_ENST00000469037.2_Intron			Q06730	ZN33A_HUMAN	zinc finger protein 33A	614			G -> R (in dbSNP:rs12256916).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AATGAATGTGGAAAAGCCTTC	0.363																																																	0													75.0	74.0	75.0					10																	38344896		2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1841G>C	10.37:g.38344896G>C	ENSP00000387713:p.Gly614Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	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.G621A	ENST00000458705.2	37	c.1862	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903689	0.33628	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.01464	4.86;4.86;4.86;4.86	1.69	1.69	0.24217	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34386	N	0.004010	T	0.06325	0.0163	M	0.74467	2.265	0.26893	N	0.967283	D;D;D	0.76494	0.993;0.995;0.999	P;P;D	0.68621	0.819;0.888;0.959	T	0.09015	-1.0694	10	0.72032	D	0.01	.	4.1167	0.10084	0.2263:0.0:0.7736:0.0	.	621;614;615	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	A	615;621;614;614	ENSP00000363747:G615A;ENSP00000402467:G621A;ENSP00000387713:G614A;ENSP00000304268:G614A	ENSP00000304268:G614A	G	+	2	0	ZNF33A	38384902	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	4.867000	0.63013	0.902000	0.36520	0.313000	0.20887	GGA	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	G	NM_006974		38344896	+1	no_errors	ENST00000432900	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF341	84905	genome.wustl.edu	37	20	32345025	32345025	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr20:32345025C>A	ENST00000375200.1	+	6	1178	c.813C>A	c.(811-813)ttC>ttA	p.F271L	ZNF341_ENST00000342427.2_Missense_Mutation_p.F271L	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	271					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)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						AACAGGGATTCAAACCCAAAG	0.597																																																	0													116.0	115.0	115.0					20																	32345025		2203	4300	6503	SO:0001583	missense	84905			AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.813C>A	20.37:g.32345025C>A	ENSP00000364346:p.Phe271Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F271L	ENST00000375200.1	37	c.813		20	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324468	0.81580	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.08807	3.17;3.05	5.87	5.87	0.94306	.	0.206127	0.53938	D	0.000058	T	0.06645	0.0170	N	0.17082	0.46	0.43283	D	0.995259	B;B;B	0.15141	0.007;0.007;0.012	B;B;B	0.14578	0.005;0.005;0.011	T	0.40997	-0.9533	10	0.30854	T	0.27	-18.96	14.7159	0.69269	0.0:0.931:0.0:0.069	.	212;271;271	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	L	271	ENSP00000344308:F271L;ENSP00000364346:F271L	ENSP00000344308:F271L	F	+	3	2	ZNF341	31808686	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.227000	0.42972	2.941000	0.99782	0.655000	0.94253	TTC	ZNF341	-	NULL		0.597	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	HGNC	protein_coding		C			32345025	+1	no_errors	ENST00000375200	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF383	163087	genome.wustl.edu	37	19	37733538	37733538	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:37733538C>T	ENST00000589413.1	+	8	983	c.400C>T	c.(400-402)Cca>Tca	p.P134S	ZNF383_ENST00000352998.3_Missense_Mutation_p.P134S|ZNF383_ENST00000590503.1_Missense_Mutation_p.P134S			Q8NA42	ZN383_HUMAN	zinc finger protein 383	134					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)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGGATATCCAAATGGGCA	0.378																																																	0													103.0	113.0	110.0					19																	37733538		2202	4300	6502	SO:0001583	missense	163087			AY438646	CCDS12501.1	19q13.13	2013-01-08				ENSG00000188283		"""Zinc fingers, C2H2-type"", ""-"""	18609	protein-coding gene	gene with protein product							Standard	NM_152604		Approved	FLJ35863	uc002ofu.1	Q8NA42		ENST00000589413.1:c.400C>T	19.37:g.37733538C>T	ENSP00000464871:p.Pro134Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6X2C7	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.P134S	ENST00000589413.1	37	c.400	CCDS12501.1	19	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841827	0.16963	.	.	ENSG00000188283	ENST00000352998	T	0.05855	3.38	3.48	2.42	0.29668	.	.	.	.	.	T	0.04227	0.0117	N	0.12182	0.205	0.21499	N	0.999664	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	9	0.41790	T	0.15	.	10.0734	0.42347	0.202:0.798:0.0:0.0	.	134	Q8NA42	ZN383_HUMAN	S	134	ENSP00000340132:P134S	ENSP00000340132:P134S	P	+	1	0	ZNF383	42425378	0.543000	0.26434	0.950000	0.38849	0.735000	0.41995	1.033000	0.30191	0.791000	0.33826	0.563000	0.77884	CCA	ZNF383	-	NULL		0.378	ZNF383-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF383	HGNC	protein_coding	OTTHUMT00000458141.1	C	NM_152604		37733538	+1	no_errors	ENST00000352998	ensembl	human	known	70_37	missense	SNP	0.971	T
ZNF397	84307	genome.wustl.edu	37	18	32823310	32823310	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:32823310G>A	ENST00000330501.7	+	3	709				ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000585800.1_Silent_p.L203L|ZNF397_ENST00000591206.1_Silent_p.L203L|ZNF397_ENST00000592264.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397						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)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CTCTGTTTTTGAGAATGCAGA	0.423																																																	0																																										SO:0001627	intron_variant	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.556+53G>A	18.37:g.32823310G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BRM2	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	p.L203	ENST00000330501.7	37	c.609	CCDS45852.1	18																																																																																			ZNF397	-	NULL		0.423	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	G	NM_032347		32823310	+1	no_errors	ENST00000585800	ensembl	human	known	70_37	silent	SNP	0.083	A
ZNF407	55628	genome.wustl.edu	37	18	72775483	72775483	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr18:72775483G>A	ENST00000299687.5	+	8	5806	c.5806G>A	c.(5806-5808)Gat>Aat	p.D1936N		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1936					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCAGCTGGCTGATGGAGCCAC	0.642																																																	0													9.0	12.0	11.0					18																	72775483		2135	4238	6373	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5806G>A	18.37:g.72775483G>A	ENSP00000299687:p.Asp1936Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.D1936N	ENST00000299687.5	37	c.5806	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076881	0.36662	.	.	ENSG00000215421	ENST00000299687	T	0.12569	2.67	4.73	4.73	0.59995	.	.	.	.	.	T	0.17874	0.0429	L	0.60455	1.87	0.80722	D	1	P	0.50272	0.933	B	0.39419	0.299	T	0.01136	-1.1440	9	0.87932	D	0	.	17.7253	0.88363	0.0:0.0:1.0:0.0	.	1936	Q9C0G0	ZN407_HUMAN	N	1936	ENSP00000299687:D1936N	ENSP00000299687:D1936N	D	+	1	0	ZNF407	70904471	1.000000	0.71417	0.008000	0.14137	0.021000	0.10359	5.149000	0.64863	0.638000	0.30545	0.459000	0.35465	GAT	ZNF407	-	NULL		0.642	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	G	NM_017757		72775483	+1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.593	A
ZNF41	7592	genome.wustl.edu	37	X	47308716	47308716	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:47308716C>T	ENST00000377065.4	-	5	1092	c.453G>A	c.(451-453)caG>caA	p.Q151Q	ZNF41_ENST00000397050.2_Silent_p.Q161Q|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Silent_p.Q151Q	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AAAGGTTATTCTGGTTTTCCT	0.353																																																	0													112.0	95.0	101.0					X																	47308716		2203	4300	6503	SO:0001819	synonymous_variant	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.453G>A	X.37:g.47308716C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	Silent	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.Q161	ENST00000377065.4	37	c.483	CCDS14279.1	X																																																																																			ZNF41	-	NULL		0.353	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	C	NM_153380		47308716	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	silent	SNP	0.826	T
ZNF41	7592	genome.wustl.edu	37	X	47308802	47308802	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:47308802G>C	ENST00000377065.4	-	5	1006	c.367C>G	c.(367-369)Caa>Gaa	p.Q123E	ZNF41_ENST00000397050.2_Missense_Mutation_p.Q133E|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000313116.7_Missense_Mutation_p.Q123E	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	165	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CCTATGGGTTGATCAAATCTC	0.378																																																	0													53.0	46.0	48.0					X																	47308802		2203	4300	6503	SO:0001583	missense	7592			X60155	CCDS14279.1	Xp11.23	2013-01-08			ENSG00000147124	ENSG00000147124		"""Zinc fingers, C2H2-type"", ""-"""	13107	protein-coding gene	gene with protein product		314995				2037297	Standard	NM_007130		Approved	MGC8941, MRX89	uc004dhy.4	P51814	OTTHUMG00000021448	ENST00000377065.4:c.367C>G	X.37:g.47308802G>C	ENSP00000366265:p.Gln123Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1V6|B4DH01|Q96LE8|Q9UMC4|Q9UMV5|Q9UMV6|Q9UMV7|Q9UMV8|Q9UMV9|Q9UMW0|Q9UMW1	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.Q133E	ENST00000377065.4	37	c.397	CCDS14279.1	X	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.487172	0.01018	.	.	ENSG00000147124	ENST00000313116;ENST00000377065;ENST00000397050;ENST00000432977	T;T;T;T	0.05513	3.43;3.43;3.44;6.11	3.1	3.1	0.35709	.	0.245759	0.21268	N	0.077374	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.32467	0.135;0.218;0.372;0.218;0.139	B;B;B;B;B	0.30316	0.06;0.06;0.114;0.06;0.027	T	0.45220	-0.9276	10	0.13470	T	0.59	.	8.8992	0.35484	0.0:0.0:1.0:0.0	.	123;125;133;157;165	P51814-6;P51814-2;P51814-3;P51814-5;P51814	.;.;.;.;ZNF41_HUMAN	E	123;123;133;133	ENSP00000315173:Q123E;ENSP00000366265:Q123E;ENSP00000380243:Q133E;ENSP00000390385:Q133E	ENSP00000315173:Q123E	Q	-	1	0	ZNF41	47193746	0.000000	0.05858	0.004000	0.12327	0.112000	0.19704	0.131000	0.15870	1.829000	0.53265	0.594000	0.82650	CAA	ZNF41	-	NULL		0.378	ZNF41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF41	HGNC	protein_coding	OTTHUMT00000056429.1	G	NM_153380		47308802	-1	no_errors	ENST00000397050	ensembl	human	known	70_37	missense	SNP	0.023	C
ZNF416	55659	genome.wustl.edu	37	19	58084776	58084776	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58084776C>G	ENST00000196489.3	-	4	718	c.496G>C	c.(496-498)Gag>Cag	p.E166Q		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATTCCTGACTCATGGAACAGG	0.502																																																	0													98.0	90.0	93.0					19																	58084776		2203	4300	6503	SO:0001583	missense	55659			BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.496G>C	19.37:g.58084776C>G	ENSP00000196489:p.Glu166Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NWW8	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.E166Q	ENST00000196489.3	37	c.496	CCDS12954.1	19	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946276	0.18356	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.06768	3.26	2.64	-1.03	0.10102	.	.	.	.	.	T	0.03695	0.0105	N	0.12182	0.205	0.09310	N	1	B	0.30361	0.277	B	0.23018	0.043	T	0.39313	-0.9620	9	0.56958	D	0.05	.	3.2904	0.06947	0.4554:0.4035:0.0:0.1411	.	166	Q9BWM5	ZN416_HUMAN	Q	166;152;146	ENSP00000196489:E166Q	ENSP00000196489:E166Q	E	-	1	0	ZNF416	62776588	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.107000	0.10873	-0.114000	0.11936	0.609000	0.83330	GAG	ZNF416	-	NULL		0.502	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF416	HGNC	protein_coding	OTTHUMT00000466787.1	C	NM_017879		58084776	-1	no_errors	ENST00000196489	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF418	147686	genome.wustl.edu	37	19	58437871	58437871	+	Missense_Mutation	SNP	G	G	A	rs375998081		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58437871G>A	ENST00000396147.1	-	4	1969	c.1678C>T	c.(1678-1680)Cac>Tac	p.H560Y	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000425570.3_Missense_Mutation_p.H581Y|ZNF418_ENST00000595830.1_Missense_Mutation_p.H560Y|ZNF418_ENST00000599852.1_Missense_Mutation_p.H475Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTGCAGTGTGAGTTTTCTGA	0.448																																																	0								G	TYR/HIS	0,4388		0,0,2194	76.0	80.0	78.0		1678	2.4	0.2	19		78	1,8591		0,1,4295	no	missense	ZNF418	NM_133460.1	83	0,1,6489	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	560/677	58437871	1,12979	2194	4296	6490	SO:0001583	missense	147686			AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1678C>T	19.37:g.58437871G>A	ENSP00000379451:p.His560Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1S2|Q670L5|Q96N18	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.H560Y	ENST00000396147.1	37	c.1678	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	16.60	3.168316	0.57584	0.0	1.16E-4	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.28895	1.59;1.59	2.41	2.41	0.29592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61350	0.2340	M	0.91459	3.21	0.31664	N	0.645207	D	0.76494	0.999	D	0.83275	0.996	T	0.69793	-0.5049	9	0.87932	D	0	.	11.8948	0.52650	0.0:0.0:1.0:0.0	.	560	Q8TF45	ZN418_HUMAN	Y	560;581;526	ENSP00000379451:H560Y;ENSP00000407039:H581Y	ENSP00000379451:H560Y	H	-	1	0	ZNF418	63129683	1.000000	0.71417	0.205000	0.23548	0.057000	0.15508	3.917000	0.56424	1.346000	0.45694	0.313000	0.20887	CAC	ZNF418	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	HGNC	protein_coding	OTTHUMT00000466693.1	G	NM_133460		58437871	-1	no_errors	ENST00000396147	ensembl	human	known	70_37	missense	SNP	0.997	A
ZNF425	155054	genome.wustl.edu	37	7	148801459	148801459	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:148801459C>G	ENST00000378061.2	-	4	1636	c.1504G>C	c.(1504-1506)Gag>Cag	p.E502Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	502					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTTTGCACTCGCCGCAGGGA	0.637																																																	0													52.0	42.0	45.0					7																	148801459		2203	4297	6500	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1504G>C	7.37:g.148801459C>G	ENSP00000367300:p.Glu502Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPM1|Q08AG3	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,pfscan_Krueppel-associated_box-rel	p.E502Q	ENST00000378061.2	37	c.1504	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	C	4.773	0.143708	0.09134	.	.	ENSG00000204947	ENST00000378061	T	0.16196	2.36	2.74	0.742	0.18341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	L	0.39147	1.195	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.25676	-1.0125	9	0.33940	T	0.23	.	9.9195	0.41455	0.0:0.5987:0.4013:0.0	.	502	Q6IV72	ZN425_HUMAN	Q	502	ENSP00000367300:E502Q	ENSP00000367300:E502Q	E	-	1	0	ZNF425	148432392	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-1.119000	0.03276	0.039000	0.15632	0.655000	0.94253	GAG	ZNF425	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	C	XM_088140		148801459	-1	no_errors	ENST00000378061	ensembl	human	known	70_37	missense	SNP	0.017	G
ZSCAN32	54925	genome.wustl.edu	37	16	3443715	3443715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:3443715G>A	ENST00000396852.4	-	3	773	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	ZSCAN32_ENST00000574940.1_Nonsense_Mutation_p.Q156*|ZSCAN32_ENST00000439568.2_Intron|ZSCAN32_ENST00000304926.3_Intron|ZSCAN32_ENST00000422427.2_5'UTR|ZSCAN32_ENST00000396846.3_Nonsense_Mutation_p.Q156*|ZSCAN32_ENST00000573830.1_Intron	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	156					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										TCCTCTGGCTGAACCTCCTGT	0.507																																																	0																																										SO:0001587	stop_gained	54925			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.466C>T	16.37:g.3443715G>A	ENSP00000380061:p.Gln156*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Nonsense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q156*	ENST00000396852.4	37	c.466		16	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787062	0.70337	.	.	ENSG00000140987	ENST00000396852;ENST00000396846;ENST00000418960	.	.	.	4.3	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	8.2233	0.31554	0.1131:0.0:0.8869:0.0	.	.	.	.	X	156;156;155	.	ENSP00000380057:Q156X	Q	-	1	0	ZNF434	3383716	0.002000	0.14202	0.006000	0.13384	0.410000	0.31052	0.942000	0.29017	0.798000	0.33994	0.563000	0.77884	CAG	ZNF434	-	NULL		0.507	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	G	NM_017810		3443715	-1	no_errors	ENST00000396846	ensembl	human	known	70_37	nonsense	SNP	0.005	A
ZNF441	126068	genome.wustl.edu	37	19	11891117	11891117	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:11891117G>C	ENST00000357901.4	+	4	580	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	ZNF441_ENST00000454339.2_Missense_Mutation_p.E93Q	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAAATACATGAAAGACCTCA	0.408																																																	0													110.0	100.0	104.0					19																	11891117		2203	4300	6503	SO:0001583	missense	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.478G>C	19.37:g.11891117G>C	ENSP00000350576:p.Glu160Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		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.E160Q	ENST00000357901.4	37	c.478	CCDS12266.2	19	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.062999	0.00386	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.26957	1.7;1.7	1.04	-0.055	0.13811	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.08891	0.0220	N	0.10972	0.075	0.09310	N	1	B	0.17852	0.024	B	0.18871	0.023	T	0.36065	-0.9763	9	0.02654	T	1	.	2.5033	0.04638	0.2378:0.3224:0.4398:0.0	.	160	Q8N8Z8	ZN441_HUMAN	Q	116;160;93	ENSP00000350576:E160Q;ENSP00000403738:E93Q	ENSP00000350576:E160Q	E	+	1	0	ZNF441	11752117	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.030000	0.13688	0.007000	0.14760	0.305000	0.20034	GAA	ZNF441	-	smart_Znf_C2H2-like		0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	G	NM_152355		11891117	+1	no_errors	ENST00000357901	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF449	203523	genome.wustl.edu	37	X	134483047	134483047	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chrX:134483047G>A	ENST00000339249.4	+	3	507	c.367G>A	c.(367-369)Gac>Aac	p.D123N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	123					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGATATGCATGACATGCTCTT	0.483																																																	0													221.0	180.0	194.0					X																	134483047		2203	4300	6503	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.367G>A	X.37:g.134483047G>A	ENSP00000339585:p.Asp123Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	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.D123N	ENST00000339249.4	37	c.367	CCDS14649.1	X	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111521	0.37242	.	.	ENSG00000173275	ENST00000339249	T	0.05855	3.38	4.61	3.75	0.43078	Transcription regulator SCAN (1);	0.497323	0.15448	N	0.261818	T	0.04182	0.0116	N	0.14661	0.345	0.20196	N	0.999924	B	0.19583	0.037	B	0.15870	0.014	T	0.35251	-0.9796	10	0.51188	T	0.08	.	7.6389	0.28282	0.1147:0.0:0.8853:0.0	.	123	Q6P9G9	ZN449_HUMAN	N	123	ENSP00000339585:D123N	ENSP00000339585:D123N	D	+	1	0	ZNF449	134310713	1.000000	0.71417	0.154000	0.22540	0.996000	0.88848	2.312000	0.43726	1.294000	0.44707	0.600000	0.82982	GAC	ZNF449	-	smart_Tscrpt_reg_SCAN		0.483	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF449	HGNC	protein_coding	OTTHUMT00000058411.1	G	NM_152695		134483047	+1	no_errors	ENST00000339249	ensembl	human	known	70_37	missense	SNP	0.141	A
ZNF454	285676	genome.wustl.edu	37	5	178391810	178391810	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr5:178391810C>G	ENST00000320129.3	+	5	708	c.405C>G	c.(403-405)atC>atG	p.I135M	ZNF454_ENST00000519564.1_Missense_Mutation_p.I135M	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		GCCAGGAGATCAGTTTGCAGC	0.483																																																	0													92.0	88.0	89.0					5																	178391810		2203	4300	6503	SO:0001583	missense	285676			AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.405C>G	5.37:g.178391810C>G	ENSP00000326249:p.Ile135Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1P2|Q2M323	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.I135M	ENST00000320129.3	37	c.405	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	C	2.007	-0.427971	0.04701	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.07114	3.22;3.22	3.92	-7.84	0.01196	.	1.947510	0.03030	N	0.151906	T	0.04998	0.0134	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.31696	-0.9934	10	0.45353	T	0.12	-0.0432	12.8024	0.57594	0.1331:0.2535:0.6134:0.0	.	135	Q8N9F8	ZN454_HUMAN	M	135	ENSP00000326249:I135M;ENSP00000430354:I135M	ENSP00000326249:I135M	I	+	3	3	ZNF454	178324416	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.206000	0.09398	-3.038000	0.00264	-2.840000	0.00105	ATC	ZNF454	-	NULL		0.483	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	C	XM_209718		178391810	+1	no_errors	ENST00000320129	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF469	84627	genome.wustl.edu	37	16	88498394	88498394	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:88498394G>A	ENST00000437464.1	+	2	4432	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	ZNF469_ENST00000565624.1_Missense_Mutation_p.E1506K	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	1478	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GCTGCTTGAGGAAGTATCCCC	0.607																																																	0													159.0	123.0	134.0					16																	88498394		692	1591	2283	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.4432G>A	16.37:g.88498394G>A	ENSP00000402343:p.Glu1478Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1478K	ENST00000437464.1	37	c.4432	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650420	0.29336	.	.	ENSG00000225614	ENST00000437464	T	0.13901	2.55	4.45	3.48	0.39840	.	.	.	.	.	T	0.10852	0.0265	N	0.24115	0.695	0.09310	N	1	P	0.51791	0.948	B	0.43783	0.431	T	0.12941	-1.0528	9	0.72032	D	0.01	.	8.8044	0.34929	0.1074:0.0:0.8926:0.0	.	1478	Q96JG9	ZN469_HUMAN	K	1478	ENSP00000402343:E1478K	ENSP00000402343:E1478K	E	+	1	0	ZNF469	87025895	1.000000	0.71417	0.378000	0.26068	0.149000	0.21700	4.336000	0.59304	2.036000	0.60181	0.561000	0.74099	GAA	ZNF469	-	NULL		0.607	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		G	NG_012236		88498394	+1	no_errors	ENST00000437464	ensembl	human	known	70_37	missense	SNP	0.041	A
ZNF484	83744	genome.wustl.edu	37	9	95610246	95610246	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr9:95610246C>T	ENST00000375495.3	-	5	971	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	ZNF484_ENST00000395505.2_Missense_Mutation_p.E239K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.E239K|ZNF484_ENST00000395506.3_Missense_Mutation_p.E277K	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGCTTTTCTTCAGCACAAATA	0.423																																																	0													95.0	92.0	93.0					9																	95610246		2203	4300	6503	SO:0001583	missense	83744			AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.823G>A	9.37:g.95610246C>T	ENSP00000364645:p.Glu275Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL89|B4DRI2	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.E277K	ENST00000375495.3	37	c.829	CCDS35066.1	9	.	.	.	.	.	.	.	.	.	.	.	13.44	2.238648	0.39598	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	2.47	2.47	0.30058	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09949	0.0244	N	0.16862	0.45	0.28305	N	0.922924	P;P	0.35844	0.524;0.524	B;B	0.31946	0.138;0.138	T	0.12863	-1.0531	9	0.62326	D	0.03	.	8.5713	0.33572	0.0:1.0:0.0:0.0	.	277;275	B4DRI2;Q5JVG2	.;ZN484_HUMAN	K	239;277;275;239	ENSP00000378881:E239K;ENSP00000378882:E277K;ENSP00000364645:E275K;ENSP00000364646:E239K	ENSP00000364646:E239K	E	-	1	0	ZNF484	94650067	0.103000	0.21917	0.479000	0.27329	0.096000	0.18686	3.307000	0.51888	1.692000	0.51112	0.549000	0.68633	GAA	ZNF484	-	NULL		0.423	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF484	HGNC	protein_coding	OTTHUMT00000053111.2	C	XM_046861		95610246	-1	no_errors	ENST00000395506	ensembl	human	known	70_37	missense	SNP	0.997	T
ZNF527	84503	genome.wustl.edu	37	19	37880761	37880761	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:37880761C>T	ENST00000436120.2	+	5	1917	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	604					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)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAGAATTCATAATAGAGA	0.343																																																	0													52.0	53.0	53.0					19																	37880761		1954	4174	6128	SO:0001583	missense	84503			AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1810C>T	19.37:g.37880761C>T	ENSP00000390179:p.His604Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVL5	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.H604Y	ENST00000436120.2	37	c.1810	CCDS42559.1	19	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410340	0.62399	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.91	3.91	0.45181	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35436	N	0.003203	D	0.84488	0.5483	M	0.92880	3.355	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.991;0.996	D	0.87925	0.2706	9	0.66056	D	0.02	.	12.9322	0.58292	0.0:1.0:0.0:0.0	.	604;572	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	Y	604;572;552	.	ENSP00000325231:H572Y	H	+	1	0	ZNF527	42572601	0.999000	0.42202	0.947000	0.38551	0.756000	0.42949	4.149000	0.58091	2.033000	0.60031	0.655000	0.94253	CAT	ZNF527	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF527	HGNC	protein_coding	OTTHUMT00000458434.1	C	NM_032453		37880761	+1	no_errors	ENST00000436120	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF546	339327	genome.wustl.edu	37	19	40513284	40513284	+	Missense_Mutation	SNP	A	A	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:40513284A>G	ENST00000347077.4	+	5	491	c.275A>G	c.(274-276)aAc>aGc	p.N92S	ZNF546_ENST00000600094.1_Missense_Mutation_p.N66S|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	92	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATGTTGGAGAACTACAGCAAC	0.463																																																	0													158.0	135.0	143.0					19																	40513284		2203	4300	6503	SO:0001583	missense	339327			BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.275A>G	19.37:g.40513284A>G	ENSP00000339823:p.Asn92Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K913	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.N92S	ENST00000347077.4	37	c.275	CCDS12548.1	19	.	.	.	.	.	.	.	.	.	.	a	11.81	1.750803	0.31046	.	.	ENSG00000187187	ENST00000347077	T	0.03635	3.86	2.83	0.482	0.16815	Krueppel-associated box (4);	.	.	.	.	T	0.06554	0.0168	M	0.85299	2.745	0.22389	N	0.999146	B;B	0.10296	0.003;0.003	B;B	0.18871	0.013;0.023	T	0.38478	-0.9659	9	0.72032	D	0.01	.	2.153	0.03805	0.4909:0.0:0.2776:0.2315	.	66;92	B3KVL3;Q86UE3	.;ZN546_HUMAN	S	92	ENSP00000339823:N92S	ENSP00000339823:N92S	N	+	2	0	ZNF546	45205124	0.064000	0.20934	0.104000	0.21259	0.891000	0.51852	0.211000	0.17474	-0.094000	0.12374	0.450000	0.29827	AAC	ZNF546	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.463	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF546	HGNC	protein_coding	OTTHUMT00000462495.2	A	NM_178544		40513284	+1	no_errors	ENST00000347077	ensembl	human	known	70_37	missense	SNP	0.909	G
ZNF528	84436	genome.wustl.edu	37	19	52905262	52905262	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:52905262C>G	ENST00000360465.3	+	0	422				ZNF528_ENST00000598192.1_5'UTR|ZNF528_ENST00000531472.1_3'UTR|ZNF528_ENST00000391788.2_5'UTR|ZNF528_ENST00000594530.1_5'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAAAAGAAGTCAGGAATGGCC	0.408																																																	0													264.0	242.0	249.0					19																	52905262		2203	4300	6503	SO:0001623	5_prime_UTR_variant	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.-5C>G	19.37:g.52905262C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPN4|Q86T88|Q96JK0	RNA	SNP	-	NULL	ENST00000360465.3	37	NULL	CCDS33091.1	19																																																																																			ZNF528	-	-		0.408	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	C	NM_032423		52905262	+1	no_errors	ENST00000531472	ensembl	human	known	70_37	rna	SNP	0.002	G
ZNF548	147694	genome.wustl.edu	37	19	57910035	57910035	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57910035G>A	ENST00000366197.5	+	3	630	c.380G>A	c.(379-381)gGa>gAa	p.G127E	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.G139E	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGCAAATTGGAGAAAATCTT	0.448																																																	0													104.0	96.0	99.0					19																	57910035		1940	4168	6108	SO:0001583	missense	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.380G>A	19.37:g.57910035G>A	ENSP00000379482:p.Gly127Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96M05	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.G139E	ENST00000366197.5	37	c.416	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041375	0.35989	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05025	3.51;3.54	2.69	0.427	0.16489	.	.	.	.	.	T	0.06234	0.0161	L	0.55213	1.73	0.09310	N	1	B;B	0.30937	0.301;0.2	B;B	0.27608	0.081;0.037	T	0.33828	-0.9853	9	0.54805	T	0.06	.	3.8609	0.08996	0.1482:0.2532:0.5986:0.0	.	139;127	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	E	139;127	ENSP00000337555:G139E;ENSP00000379482:G127E	ENSP00000337555:G139E	G	+	2	0	ZNF548	62601847	0.133000	0.22466	0.002000	0.10522	0.382000	0.30200	0.098000	0.15189	0.207000	0.20607	0.591000	0.81541	GGA	ZNF548	-	NULL		0.448	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	G	NM_152909		57910035	+1	no_errors	ENST00000336128	ensembl	human	known	70_37	missense	SNP	0.002	A
ZNF548	147694	genome.wustl.edu	37	19	57910718	57910718	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57910718C>T	ENST00000366197.5	+	3	1313	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.H367Y	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCATTAGACATCAGAGAAT	0.403																																																	0													57.0	59.0	58.0					19																	57910718		2198	4299	6497	SO:0001583	missense	147694			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1063C>T	19.37:g.57910718C>T	ENSP00000379482:p.His355Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96M05	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.H367Y	ENST00000366197.5	37	c.1099	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665393	0.67700	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	D;D	0.86769	-2.17;-2.17	2.76	2.76	0.32466	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94689	0.8287	H	0.94734	3.575	0.36338	D	0.859288	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97109	0.9803	9	0.87932	D	0	.	12.6725	0.56874	0.0:1.0:0.0:0.0	.	367;355	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	Y	367;355	ENSP00000337555:H367Y;ENSP00000379482:H355Y	ENSP00000337555:H367Y	H	+	1	0	ZNF548	62602530	1.000000	0.71417	0.063000	0.19743	0.920000	0.55202	5.143000	0.64826	1.563000	0.49615	0.563000	0.77884	CAT	ZNF548	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	C	NM_152909		57910718	+1	no_errors	ENST00000336128	ensembl	human	known	70_37	missense	SNP	0.966	T
ZNF558	148156	genome.wustl.edu	37	19	8932741	8932741	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:8932741G>A	ENST00000601372.1	-	6	769	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000444186.2_5'Flank|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Nonsense_Mutation_p.Q20*			Q96NG5	ZN558_HUMAN	zinc finger protein 558	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTTTTTGCTGAGAGGCTGGG	0.522																																																	0													169.0	152.0	158.0					19																	8932741		2203	4300	6503	SO:0001587	stop_gained	148156			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.58C>T	19.37:g.8932741G>A	ENSP00000471277:p.Gln20*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5F0|B7Z798	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.Q20*	ENST00000601372.1	37	c.58	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924874	0.92319	.	.	ENSG00000167785	ENST00000301475	.	.	.	2.95	1.86	0.25419	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	1.7182	7.7413	0.28843	0.0:0.2611:0.7389:0.0	.	.	.	.	X	20	.	ENSP00000301475:Q20X	Q	-	1	0	ZNF558	8793741	0.029000	0.19370	0.009000	0.14445	0.198000	0.23893	2.066000	0.41452	0.761000	0.33130	0.591000	0.81541	CAG	ZNF558	-	NULL		0.522	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2	G	NM_144693		8932741	-1	no_errors	ENST00000301475	ensembl	human	known	70_37	nonsense	SNP	0.010	A
ZNF558	148156	genome.wustl.edu	37	19	8932743	8932743	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:8932743G>A	ENST00000601372.1	-	6	767	c.56C>T	c.(55-57)tCt>tTt	p.S19F	CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000444186.2_5'Flank|ZNF558_ENST00000599938.1_5'Flank|ZNF558_ENST00000301475.1_Missense_Mutation_p.S19F			Q96NG5	ZN558_HUMAN	zinc finger protein 558	19					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTTTTGCTGAGAGGCTGGGAA	0.532																																																	0													169.0	152.0	157.0					19																	8932743		2203	4300	6503	SO:0001583	missense	148156			AK055494	CCDS12208.1	19p13.2	2013-09-20			ENSG00000167785	ENSG00000167785		"""Zinc fingers, C2H2-type"", ""-"""	26422	protein-coding gene	gene with protein product							Standard	NM_144693		Approved	FLJ30932	uc002mkn.1	Q96NG5	OTTHUMG00000182196	ENST00000601372.1:c.56C>T	19.37:g.8932743G>A	ENSP00000471277:p.Ser19Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5F0|B7Z798	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.S19F	ENST00000601372.1	37	c.56	CCDS12208.1	19	.	.	.	.	.	.	.	.	.	.	G	11.82	1.751516	0.31046	.	.	ENSG00000167785	ENST00000301475	T	0.06528	3.29	3.09	3.09	0.35607	.	.	.	.	.	T	0.04861	0.0131	N	0.19112	0.55	0.31237	N	0.695606	P	0.45531	0.86	B	0.44315	0.446	T	0.04976	-1.0914	9	0.09338	T	0.73	0.0057	9.9228	0.41474	0.0:0.0:1.0:0.0	.	19	Q96NG5	ZN558_HUMAN	F	19	ENSP00000301475:S19F	ENSP00000301475:S19F	S	-	2	0	ZNF558	8793743	0.022000	0.18835	0.017000	0.16124	0.205000	0.24178	1.336000	0.33850	2.043000	0.60533	0.591000	0.81541	TCT	ZNF558	-	NULL		0.532	ZNF558-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF558	HGNC	protein_coding	OTTHUMT00000459955.2	G	NM_144693		8932743	-1	no_errors	ENST00000301475	ensembl	human	known	70_37	missense	SNP	0.018	A
ZNF585A	199704	genome.wustl.edu	37	19	37643544	37643544	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:37643544G>A	ENST00000356958.4	-	5	1515	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.F364F|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Silent_p.F364F			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTCTGAATGAAGGCCAGTC	0.418																																																	0													117.0	112.0	114.0					19																	37643544		2203	4300	6503	SO:0001819	synonymous_variant	199704			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1257C>T	19.37:g.37643544G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TE95|Q96MV3	Silent	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.F419	ENST00000356958.4	37	c.1257		19																																																																																			ZNF585A	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	ZNF585A	HGNC	protein_coding	OTTHUMT00000457980.2	G	NM_152655		37643544	-1	no_errors	ENST00000356958	ensembl	human	known	70_37	silent	SNP	0.006	A
ZNF578	147660	genome.wustl.edu	37	19	53014124	53014124	+	Missense_Mutation	SNP	C	C	T	rs376544097		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:53014124C>T	ENST00000421239.2	+	6	734	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATTTGCATCTTCCTGAACT	0.398																																																	0								C	PHE/LEU	0,4406		0,0,2203	130.0	133.0	132.0		490	-2.4	0.0	19		132	1,8599		0,1,4299	no	missense	ZNF578	NM_001099694.1	22	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	164/591	53014124	1,13005	2203	4300	6503	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.490C>T	19.37:g.53014124C>T	ENSP00000459216:p.Leu164Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR51|I3L1Y6	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.L164F	ENST00000421239.2	37	c.490	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	12.82	2.053651	0.36277	0.0	1.16E-4	ENSG00000258405	ENST00000553364	.	.	.	1.21	-2.42	0.06542	.	.	.	.	.	T	0.52565	0.1742	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.45542	-0.9254	7	.	.	.	.	4.8284	0.13428	0.0:0.6264:0.2149:0.1587	.	164	G3V4F6	.	F	164	.	.	L	+	1	0	ZNF578	57705936	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	-0.793000	0.04589	-1.246000	0.02510	0.089000	0.15464	CTT	ZNF578	-	NULL		0.398	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	C	NM_152472		53014124	+1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.002	T
ZNF578	147660	genome.wustl.edu	37	19	53014490	53014490	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:53014490C>T	ENST00000421239.2	+	6	1100	c.856C>T	c.(856-858)Cct>Tct	p.P286S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TAGTGAGAAACCTTACAAGTG	0.388																																																	0													112.0	116.0	115.0					19																	53014490		2203	4299	6502	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.856C>T	19.37:g.53014490C>T	ENSP00000459216:p.Pro286Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR51|I3L1Y6	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.P286S	ENST00000421239.2	37	c.856	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	17.27	3.347010	0.61183	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.29	1.29	0.21616	.	.	.	.	.	T	0.47303	0.1438	L	0.31526	0.94	0.27793	N	0.942752	D	0.76494	0.999	D	0.74348	0.983	T	0.35674	-0.9779	7	.	.	.	.	9.6232	0.39734	0.0:1.0:0.0:0.0	.	286	G3V4F6	.	S	286	.	.	P	+	1	0	ZNF578	57706302	.	.	0.391000	0.26233	0.367000	0.29736	.	.	0.719000	0.32188	0.290000	0.19541	CCT	ZNF578	-	pfscan_Znf_C2H2		0.388	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	C	NM_152472		53014490	+1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF551	90233	genome.wustl.edu	37	19	58196748	58196748	+	Missense_Mutation	SNP	C	C	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58196748C>A	ENST00000282296.5	+	2	385	c.200C>A	c.(199-201)tCc>tAc	p.S67Y	ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S51Y|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Missense_Mutation_p.S51Y			Q7Z340	ZN551_HUMAN	zinc finger protein 551	67	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(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CATGTAACATCCCTGGGTAAG	0.498																																																	0													250.0	223.0	232.0					19																	58196748		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.200C>A	19.37:g.58196748C>A	ENSP00000282296:p.Ser67Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DU22|P17034|Q8N246|Q9BRY1	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.S67Y	ENST00000282296.5	37	c.200	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078581	0.36662	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.17	2.17	0.27698	Krueppel-associated box (4);	.	.	.	.	T	0.70622	0.3245	M	0.91510	3.215	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56390	-0.7987	8	0.52906	T	0.07	.	7.9036	0.29748	0.0:1.0:0.0:0.0	.	67	Q7Z340	ZN551_HUMAN	Y	67;51;39	.	ENSP00000282296:S51Y	S	+	2	0	ZNF551	62888560	0.004000	0.15560	0.007000	0.13788	0.014000	0.08584	0.758000	0.26447	1.521000	0.48983	0.462000	0.41574	TCC	ZNF551	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	C	NM_138347		58196748	+1	no_errors	ENST00000356715	ensembl	human	known	70_37	missense	SNP	0.008	A
ZNF552	79818	genome.wustl.edu	37	19	58325933	58325933	+	Intron	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58325933C>G	ENST00000391701.1	-	1	203				ZNF586_ENST00000598885.1_Silent_p.V101V|ZNF586_ENST00000599802.1_Intron	NM_024762.3	NP_079038.2	Q9H707	ZN552_HUMAN	zinc finger protein 552						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(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CCACGGGTGTCTGAAACAGGG	0.662																																																	0																																										SO:0001627	intron_variant	54807			AK097041	CCDS12963.1	19q13.43	2013-09-20			ENSG00000178935	ENSG00000178935		"""Zinc fingers, C2H2-type"", ""-"""	26135	protein-coding gene	gene with protein product							Standard	XM_005259267		Approved	FLJ21603	uc002qqg.3	Q9H707	OTTHUMG00000183478	ENST00000391701.1:c.33+145G>C	19.37:g.58325933C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUE9|Q6P5A6	Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.V101	ENST00000391701.1	37	c.303	CCDS12963.1	19																																																																																			ZNF586	-	pfscan_Krueppel-associated_box		0.662	ZNF552-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466829.1	C	NM_024762		58325933	+1	no_errors	ENST00000598885	ensembl	human	putative	70_37	silent	SNP	0.001	G
CTD-2583A14.10	0	genome.wustl.edu	37	19	58331298	58331298	+	Silent	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58331298G>A	ENST00000598031.1	+	1	125	c.18G>A	c.(16-18)ccG>ccA	p.P6P	ZNF587B_ENST00000316462.4_Silent_p.P6P|ZNF586_ENST00000599802.1_3'UTR																							CGGCTGCGCCGAGGCGCCCTA	0.652																																																	0																																										SO:0001819	synonymous_variant	100293516																														ENST00000598031.1:c.18G>A	19.37:g.58331298G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P6	ENST00000598031.1	37	c.18		19																																																																																			ZNF587B	-	NULL		0.652	CTD-2583A14.10-004	PUTATIVE	mRNA_end_NF|cds_end_NF|basic|appris_candidate_longest|readthrough_transcript	protein_coding	ZNF587B	HGNC	protein_coding	OTTHUMT00000466994.2	G			58331298	+1	no_errors	ENST00000316462	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF596	169270	genome.wustl.edu	37	8	192960	192960	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:192960G>A	ENST00000398612.1	+	3	469	c.86G>A	c.(85-87)aGa>aAa	p.R29K	ZNF596_ENST00000320552.2_Missense_Mutation_p.R29K|ZNF596_ENST00000308811.4_Missense_Mutation_p.R29K	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	29	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)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		ACATCCCAGAGAAAGCTGTTT	0.398																																																	0													136.0	125.0	128.0					8																	192960		2203	4300	6503	SO:0001583	missense	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.86G>A	8.37:g.192960G>A	ENSP00000381613:p.Arg29Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8P4|O95015|Q8N9X0	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.R29K	ENST00000398612.1	37	c.86	CCDS5951.2	8	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.716601	0.00706	.	.	ENSG00000172748	ENST00000521145;ENST00000308811;ENST00000320552;ENST00000522866;ENST00000398612;ENST00000518414;ENST00000521270	T;T;T;T;T;T	0.01685	4.69;4.69;4.69;4.69;4.69;4.69	2.38	2.38	0.29361	Krueppel-associated box (4);	.	.	.	.	T	0.01254	0.0041	N	0.21583	0.68	0.19300	N	0.999978	P	0.42735	0.788	B	0.41202	0.35	T	0.19031	-1.0318	9	0.02654	T	1	.	5.0925	0.14715	0.1634:0.0:0.8366:0.0	.	29	Q8TC21	ZN596_HUMAN	K	29	ENSP00000429671:R29K;ENSP00000310033:R29K;ENSP00000318719:R29K;ENSP00000381613:R29K;ENSP00000430552:R29K;ENSP00000429386:R29K	ENSP00000310033:R29K	R	+	2	0	ZNF596	182960	0.368000	0.25031	0.558000	0.28319	0.239000	0.25481	0.330000	0.19715	1.669000	0.50854	0.585000	0.79938	AGA	ZNF596	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.398	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF596	HGNC	protein_coding	OTTHUMT00000195858.4	G	NM_173539		192960	+1	no_errors	ENST00000308811	ensembl	human	known	70_37	missense	SNP	0.506	A
ZNF619	285267	genome.wustl.edu	37	3	40523818	40523818	+	Intron	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:40523818G>A	ENST00000314686.5	+	4	485				ZNF619_ENST00000429348.2_Intron|ZNF619_ENST00000521353.1_Silent_p.L92L|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000522736.1_Intron|ZNF619_ENST00000432264.2_Intron|ZNF619_ENST00000447116.2_Silent_p.L92L			Q8N2I2	ZN619_HUMAN	zinc finger protein 619						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCTGGAGCTGATCTTGGCCC	0.547																																																	0													68.0	66.0	66.0					3																	40523818		692	1591	2283	SO:0001627	intron_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.81-261G>A	3.37:g.40523818G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	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.L92	ENST00000314686.5	37	c.276		3																																																																																			ZNF619	-	pfscan_Krueppel-associated_box		0.547	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	HGNC	protein_coding	OTTHUMT00000254180.2	G	NM_173656		40523818	+1	no_errors	ENST00000447116	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF639	51193	genome.wustl.edu	37	3	179051197	179051197	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr3:179051197G>A	ENST00000326361.3	+	7	890	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ZNF639_ENST00000484866.1_Missense_Mutation_p.E149K|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.E149K	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	149					negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGCGATTTCTGAGGATTATGA	0.418																																																	0													69.0	68.0	68.0					3																	179051197		2203	4300	6503	SO:0001583	missense	51193			BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.445G>A	3.37:g.179051197G>A	ENSP00000325634:p.Glu149Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A9X3Z9|D3DNR3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E149K	ENST00000326361.3	37	c.445	CCDS3227.1	3	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183811	0.78677	.	.	ENSG00000121864	ENST00000496856;ENST00000491818;ENST00000326361;ENST00000466264;ENST00000484866	T;T;T;T	0.03889	3.77;3.77;4.39;3.77	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.12518	0.0304	L	0.32530	0.975	0.46823	D	0.999212	D	0.63880	0.993	D	0.70935	0.971	T	0.21381	-1.0247	10	0.07325	T	0.83	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	149	Q9UID6	ZN639_HUMAN	K	149	ENSP00000417740:E149K;ENSP00000325634:E149K;ENSP00000419650:E149K;ENSP00000418766:E149K	ENSP00000325634:E149K	E	+	1	0	ZNF639	180533891	1.000000	0.71417	0.993000	0.49108	0.744000	0.42396	6.138000	0.71717	2.941000	0.99782	0.655000	0.94253	GAG	ZNF639	-	NULL		0.418	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF639	HGNC	protein_coding	OTTHUMT00000348855.1	G	NM_016331		179051197	+1	no_errors	ENST00000326361	ensembl	human	known	70_37	missense	SNP	0.999	A
ZNF646	9726	genome.wustl.edu	37	16	31090081	31090081	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31090081C>T	ENST00000394979.2	+	1	2859	c.2436C>T	c.(2434-2436)gtC>gtT	p.V812V	ZNF646_ENST00000300850.5_Silent_p.V812V			O15015	ZN646_HUMAN	zinc finger protein 646	812					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCAATGCTGTCACTGGCTGGC	0.622																																																	0													74.0	75.0	74.0					16																	31090081		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2436C>T	16.37:g.31090081C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V812	ENST00000394979.2	37	c.2436		16																																																																																			ZNF646	-	NULL		0.622	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31090081	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	silent	SNP	0.001	T
ZNF646	9726	genome.wustl.edu	37	16	31090135	31090135	+	Silent	SNP	C	C	T	rs538470328		TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31090135C>T	ENST00000394979.2	+	1	2913	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	ZNF646_ENST00000300850.5_Silent_p.F830F			O15015	ZN646_HUMAN	zinc finger protein 646	830					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGCATTCTTTCCCCCATGCCA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19202	0.0		0.0	False		,,,				2504	0.001																0													85.0	89.0	88.0					16																	31090135		2197	4300	6497	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2490C>T	16.37:g.31090135C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F830	ENST00000394979.2	37	c.2490		16																																																																																			ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.627	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31090135	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF646	9726	genome.wustl.edu	37	16	31090883	31090883	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr16:31090883C>G	ENST00000394979.2	+	1	3661	c.3238C>G	c.(3238-3240)Ctc>Gtc	p.L1080V	ZNF646_ENST00000300850.5_Missense_Mutation_p.L1080V			O15015	ZN646_HUMAN	zinc finger protein 646	1080					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(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGAGACTTTCTCTGCCCTGT	0.637																																																	0													142.0	147.0	145.0					16																	31090883		2197	4300	6497	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.3238C>G	16.37:g.31090883C>G	ENSP00000378429:p.Leu1080Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L1080V	ENST00000394979.2	37	c.3238		16	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.271266	0.01421	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.27557	1.66;1.66	5.75	-4.87	0.03123	.	.	.	.	.	T	0.12008	0.0292	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30707	-0.9969	9	0.30078	T	0.28	0.107	8.8243	0.35045	0.2568:0.355:0.3882:0.0	.	1080	O15015-2	.	V	1080	ENSP00000300850:L1080V;ENSP00000378429:L1080V	ENSP00000300850:L1080V	L	+	1	0	ZNF646	30998384	0.000000	0.05858	0.028000	0.17463	0.841000	0.47740	-0.558000	0.05978	-0.813000	0.04357	-0.457000	0.05445	CTC	ZNF646	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.637	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	C	NM_014699		31090883	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF655	79027	genome.wustl.edu	37	7	99173862	99173862	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr7:99173862G>C	ENST00000394163.2	+	0	4314				GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000424881.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000425063.1_3'UTR	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655						negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TAAATGAATTGATCTAAATGT	0.333																																																	0																																										SO:0001624	3_prime_UTR_variant	79027			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.*2655G>C	7.37:g.99173862G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	RNA	SNP	-	NULL	ENST00000394163.2	37	NULL	CCDS5669.1	7																																																																																			ZNF655	-	-		0.333	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ZNF655	HGNC	protein_coding	OTTHUMT00000344929.1	G	NM_138494		99173862	+1	no_errors	ENST00000419215	ensembl	human	known	70_37	rna	SNP	0.644	C
ZNF667	63934	genome.wustl.edu	37	19	56953634	56953634	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:56953634G>C	ENST00000504904.3	-	7	1449	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	ZNF667_ENST00000342634.3_Missense_Mutation_p.Q372E|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.Q244E			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGAATTTTCTGATGTATATTG	0.378																																																	0													112.0	115.0	114.0					19																	56953634		2203	4300	6503	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.730C>G	19.37:g.56953634G>C	ENSP00000439402:p.Gln244Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS6|B9EK36|Q6B093|Q9H807	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.Q372E	ENST00000504904.3	37	c.1114	CCDS12944.1	19	.	.	.	.	.	.	.	.	.	.	G	2.260	-0.369507	0.05069	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.05025	3.51;3.57;3.57	4.94	1.33	0.21861	Zinc finger, C2H2-like (1);	1.269230	0.05751	N	0.603086	T	0.09247	0.0228	L	0.56340	1.77	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.37979	-0.9682	10	0.54805	T	0.06	0.2222	9.6396	0.39831	0.0:0.2857:0.567:0.1473	.	372;244	E7EPS0;Q5HYK9	.;ZN667_HUMAN	E	372;244;244;26	ENSP00000344699:Q372E;ENSP00000439402:Q244E;ENSP00000292069:Q244E	ENSP00000292069:Q244E	Q	-	1	0	ZNF667	61645446	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.481000	0.22260	0.641000	0.30601	-0.274000	0.10170	CAG	ZNF667	-	smart_Znf_C2H2-like		0.378	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF667	HGNC	protein_coding	OTTHUMT00000458394.1	G	NM_022103		56953634	-1	no_errors	ENST00000342634	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF669	79862	genome.wustl.edu	37	1	247265330	247265330	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:247265330C>G	ENST00000343381.6	-	2	519	c.347G>C	c.(346-348)aGa>aCa	p.R116T	ZNF669_ENST00000448299.2_Missense_Mutation_p.R30T|ZNF669_ENST00000358785.4_Missense_Mutation_p.R116T|ZNF669_ENST00000366501.1_Missense_Mutation_p.R30T|ZNF669_ENST00000366500.1_Missense_Mutation_p.R30T	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	116	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)			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CATCACTTCTCTGTAGAGATT	0.438																																																	0													89.0	88.0	88.0					1																	247265330		2203	4300	6503	SO:0001583	missense	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.347G>C	1.37:g.247265330C>G	ENSP00000342818:p.Arg116Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP94|Q5VT39|Q9H9Q6	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.R116T	ENST00000343381.6	37	c.347	CCDS31088.1	1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342415	0.24339	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000358785;ENST00000343381;ENST00000366501;ENST00000366500;ENST00000476158	T;T;T;T;T;T	0.02709	4.19;4.19;4.19;4.19;4.19;4.19	1.08	1.08	0.20341	Krueppel-associated box (4);	.	.	.	.	T	0.16514	0.0397	H	0.94306	3.52	0.30879	N	0.731629	D;D	0.62365	0.991;0.985	D;D	0.76071	0.987;0.966	T	0.06285	-1.0835	9	0.87932	D	0	.	3.4643	0.07544	0.0:0.7092:0.0:0.2908	.	30;116	B3KP94;Q96BR6	.;ZN669_HUMAN	T	30;30;116;116;30;30;116	ENSP00000404370:R30T;ENSP00000351636:R116T;ENSP00000342818:R116T;ENSP00000355457:R30T;ENSP00000355456:R30T;ENSP00000429550:R116T	ENSP00000342818:R116T	R	-	2	0	ZNF669	245331953	0.004000	0.15560	0.373000	0.26003	0.380000	0.30137	1.131000	0.31406	0.543000	0.28864	0.289000	0.19496	AGA	ZNF669	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	HGNC	protein_coding	OTTHUMT00000098394.4	C	NM_024804		247265330	-1	no_errors	ENST00000343381	ensembl	human	known	70_37	missense	SNP	0.996	G
ZNF697	90874	genome.wustl.edu	37	1	120165604	120165604	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:120165604G>C	ENST00000421812.2	-	3	1481	c.1362C>G	c.(1360-1362)aaC>aaG	p.N454K		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		CGCGCAGGTGGTTCACCAGGT	0.672																																																	0													22.0	25.0	24.0					1																	120165604		2198	4298	6496	SO:0001583	missense	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1362C>G	1.37:g.120165604G>C	ENSP00000396857:p.Asn454Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IT2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N454K	ENST00000421812.2	37	c.1362	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	0.773	-0.764954	0.02996	.	.	ENSG00000143067	ENST00000421812	T	0.15017	2.46	5.08	2.08	0.27032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.387744	0.18893	N	0.128253	T	0.01661	0.0053	N	0.02539	-0.55	0.35289	D	0.782	B	0.23377	0.084	B	0.29176	0.099	T	0.42447	-0.9451	10	0.08837	T	0.75	-19.0733	6.922	0.24393	0.0812:0.0:0.4789:0.4399	.	454	Q5TEC3	ZN697_HUMAN	K	454	ENSP00000396857:N454K	ENSP00000396857:N454K	N	-	3	2	ZNF697	119967127	0.012000	0.17670	0.996000	0.52242	0.006000	0.05464	0.480000	0.22244	0.238000	0.21222	-0.311000	0.09066	AAC	ZNF697	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.672	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	G	XM_371286		120165604	-1	no_errors	ENST00000421812	ensembl	human	known	70_37	missense	SNP	0.990	C
ZNF692	55657	genome.wustl.edu	37	1	249151477	249151477	+	Missense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:249151477C>T	ENST00000306601.4	-	4	597	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366471.3_Missense_Mutation_p.R144Q|ZNF692_ENST00000451251.1_Missense_Mutation_p.R149Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.R144Q|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000427146.1_Missense_Mutation_p.R144Q	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					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(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAACTTCTCCGAGTAGTATG	0.547																																																	0													91.0	93.0	92.0					1																	249151477		2203	4300	6503	SO:0001583	missense	55657			BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.431G>A	1.37:g.249151477C>T	ENSP00000305483:p.Arg144Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R149Q	ENST00000306601.4	37	c.446	CCDS31127.1	1	.	.	.	.	.	.	.	.	.	.	C	7.614	0.675437	0.14841	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.06608	3.3;3.3;3.3;3.29;3.28	4.12	-8.1	0.01086	.	2.038600	0.02199	N	0.062121	T	0.04363	0.0120	L	0.36672	1.1	0.09310	N	0.999992	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36237	-0.9756	10	0.14252	T	0.57	0.0011	4.5257	0.11980	0.1096:0.1666:0.1088:0.615	.	149;144;144	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	Q	144;144;144;144;149	ENSP00000305483:R144Q;ENSP00000390044:R144Q;ENSP00000355427:R144Q;ENSP00000355425:R144Q;ENSP00000391200:R149Q	ENSP00000305483:R144Q	R	-	2	0	ZNF692	247118100	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.029000	0.01430	-1.989000	0.00979	-0.810000	0.03169	CGG	ZNF692	-	NULL		0.547	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF692	HGNC	protein_coding	OTTHUMT00000097298.1	C	NM_017865		249151477	-1	no_errors	ENST00000451251	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF707	286075	genome.wustl.edu	37	8	144776075	144776075	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144776075G>C	ENST00000532205.1	+	8	1390	c.491G>C	c.(490-492)aGa>aCa	p.R164T	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000418203.2_Missense_Mutation_p.R164T|ZNF707_ENST00000358656.4_Missense_Mutation_p.R164T|ZNF707_ENST00000454097.1_Missense_Mutation_p.R164T|ZNF707_ENST00000532158.1_Missense_Mutation_p.R164T			Q96C28	ZN707_HUMAN	zinc finger protein 707	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGGCCGCAGAGAGCGCCGG	0.682																																																	0													16.0	20.0	19.0					8																	144776075		2050	4177	6227	SO:0001583	missense	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.491G>C	8.37:g.144776075G>C	ENSP00000436212:p.Arg164Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K317|B3KNY1|D3DWK7	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.R164T	ENST00000532205.1	37	c.491	CCDS47932.1	8	.	.	.	.	.	.	.	.	.	.	G	1.986	-0.432963	0.04669	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000526315;ENST00000532205;ENST00000418203	T;T;T;T;T;T	0.23552	3.49;3.49;3.49;1.9;3.49;3.49	1.93	-0.031	0.13911	.	.	.	.	.	T	0.15219	0.0367	L	0.33137	0.985	0.09310	N	1	B;B	0.20261	0.003;0.043	B;B	0.18263	0.0;0.021	T	0.30650	-0.9971	8	.	.	.	.	3.9755	0.09472	0.4455:0.0:0.5545:0.0	.	89;164	B4DV46;Q96C28	.;ZN707_HUMAN	T	164;164;164;128;164;164	ENSP00000409029:R164T;ENSP00000351482:R164T;ENSP00000436250:R164T;ENSP00000435906:R128T;ENSP00000436212:R164T;ENSP00000413215:R164T	.	R	+	2	0	ZNF707	144848063	0.700000	0.27796	0.000000	0.03702	0.030000	0.12068	1.962000	0.40442	-0.039000	0.13602	0.514000	0.50259	AGA	ZNF707	-	NULL		0.682	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	G	NM_173831		144776075	+1	no_errors	ENST00000358656	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF707	286075	genome.wustl.edu	37	8	144776287	144776287	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144776287G>A	ENST00000532205.1	+	8	1602	c.703G>A	c.(703-705)Gag>Aag	p.E235K	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000418203.2_Missense_Mutation_p.E235K|ZNF707_ENST00000358656.4_Missense_Mutation_p.E235K|ZNF707_ENST00000454097.1_Missense_Mutation_p.E235K|ZNF707_ENST00000532158.1_Missense_Mutation_p.E235K			Q96C28	ZN707_HUMAN	zinc finger protein 707	235					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTCTGCTGCGAGGCCTGCGG	0.662																																																	0													15.0	18.0	17.0					8																	144776287		2124	4229	6353	SO:0001583	missense	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.703G>A	8.37:g.144776287G>A	ENSP00000436212:p.Glu235Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K317|B3KNY1|D3DWK7	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.E235K	ENST00000532205.1	37	c.703	CCDS47932.1	8	.	.	.	.	.	.	.	.	.	.	G	6.213	0.407429	0.11754	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21	2.99	1.95	0.26073	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06462	0.0166	L	0.31804	0.96	0.09310	N	1	B;D	0.53745	0.167;0.962	B;P	0.45167	0.094;0.472	T	0.31503	-0.9941	8	.	.	.	-22.1218	2.5076	0.04649	0.1771:0.0:0.5284:0.2945	.	160;235	B4DV46;Q96C28	.;ZN707_HUMAN	K	235	ENSP00000409029:E235K;ENSP00000351482:E235K;ENSP00000436250:E235K;ENSP00000436212:E235K;ENSP00000413215:E235K	.	E	+	1	0	ZNF707	144848275	0.000000	0.05858	0.166000	0.22797	0.031000	0.12232	-1.703000	0.01900	1.478000	0.48253	0.563000	0.77884	GAG	ZNF707	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	G	NM_173831		144776287	+1	no_errors	ENST00000358656	ensembl	human	known	70_37	missense	SNP	0.006	A
ZNF707	286075	genome.wustl.edu	37	8	144776766	144776766	+	3'UTR	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:144776766G>C	ENST00000532205.1	+	0	2081				RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000418203.2_3'UTR|ZNF707_ENST00000358656.4_3'UTR|ZNF707_ENST00000454097.1_3'UTR|ZNF707_ENST00000532158.1_3'UTR			Q96C28	ZN707_HUMAN	zinc finger protein 707						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGCTGCAGTGAGAAGTTGCT	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.*66G>C	8.37:g.144776766G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K317|B3KNY1|D3DWK7	RNA	SNP	-	NULL	ENST00000532205.1	37	NULL	CCDS47932.1	8																																																																																			ZNF707	-	-		0.582	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	G	NM_173831		144776766	+1	no_errors	ENST00000527561	ensembl	human	known	70_37	rna	SNP	0.000	C
ZNF7	7553	genome.wustl.edu	37	8	146067954	146067954	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr8:146067954C>T	ENST00000528372.1	+	5	1702	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	ZNF7_ENST00000446747.2_Nonsense_Mutation_p.Q499*|ZNF7_ENST00000325241.6_Nonsense_Mutation_p.Q488*|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Nonsense_Mutation_p.Q392*			P17097	ZNF7_HUMAN	zinc finger protein 7	488					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TATTCAGCATCAGCGAATCCA	0.443																																																	0													83.0	74.0	77.0					8																	146067954		2203	4300	6503	SO:0001587	stop_gained	7553			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.1462C>T	8.37:g.146067954C>T	ENSP00000432724:p.Gln488*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DT08|D3DWN6|P17015|Q8N8Y4	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.Q488*	ENST00000528372.1	37	c.1462	CCDS6435.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.324003	0.97476	.	.	ENSG00000147789	ENST00000325241;ENST00000446747;ENST00000544249;ENST00000528372	.	.	.	4.93	4.93	0.64822	.	0.000000	0.44483	D	0.000446	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.9481	17.069	0.86568	0.0:1.0:0.0:0.0	.	.	.	.	X	488;499;392;488	.	.	Q	+	1	0	ZNF7	146038758	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.942000	0.29017	2.565000	0.86533	0.655000	0.94253	CAG	ZNF7	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	C	NM_003416		146067954	+1	no_errors	ENST00000325241	ensembl	human	known	70_37	nonsense	SNP	0.997	T
ZNF728	388523	genome.wustl.edu	37	19	23159703	23159703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:23159703G>A	ENST00000594710.1	-	4	581	c.436C>T	c.(436-438)Caa>Taa	p.Q146*		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	146					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TTGCCACATTGAAATACTTTG	0.303																																																	0																																										SO:0001587	stop_gained	388523			BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.436C>T	19.37:g.23159703G>A	ENSP00000471593:p.Gln146*	Somatic		WXS	Illumina HiSeq	Phase_IV		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.Q146*	ENST00000594710.1	37	c.436	CCDS59370.1	19																																																																																			ZNF728	-	NULL		0.303	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF728	HGNC	protein_coding	OTTHUMT00000465176.1	G	NM_001267716		23159703	-1	no_errors	ENST00000594710	ensembl	human	novel	70_37	nonsense	SNP	0.037	A
ZNF732	654254	genome.wustl.edu	37	4	265445	265445	+	Missense_Mutation	SNP	G	G	A	rs548117508	byFrequency	TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr4:265445G>A	ENST00000419098.1	-	4	1211	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	401					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(1)|lung(2)	3						GTTGTGAACCGACTAAAGGCT	0.428													.|||	2	0.000399361	0.0	0.0	5008	,	,		21051	0.0		0.001	False		,,,				2504	0.001																0													59.0	52.0	54.0					4																	265445		692	1591	2283	SO:0001583	missense	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.1201C>T	4.37:g.265445G>A	ENSP00000415774:p.Arg401Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		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.R401W	ENST00000419098.1	37	c.1201	CCDS46990.1	4	.	.	.	.	.	.	.	.	.	.	G	1.586	-0.530272	0.04112	.	.	ENSG00000186777	ENST00000419098	T	0.19806	2.12	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	M	0.63169	1.94	0.09310	N	1	B	0.18166	0.026	B	0.12837	0.008	T	0.23762	-1.0179	9	0.30078	T	0.28	.	7.3306	0.26580	0.0:0.0:1.0:0.0	.	401	B4DXR9	ZN732_HUMAN	W	401	ENSP00000415774:R401W	ENSP00000415774:R401W	R	-	1	2	ZNF732	255445	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-2.250000	0.01187	0.399000	0.25367	0.400000	0.26472	CGG	ZNF732	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	G	NM_001137608		265445	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF749	388567	genome.wustl.edu	37	19	57946915	57946915	+	5'UTR	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57946915C>G	ENST00000334181.4	+	0	219				ZNF749_ENST00000597296.1_3'UTR|AC004076.7_ENST00000597410.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CCGCCCCGCTCTTCCCTGGGT	0.692																																																	0													8.0	11.0	10.0					19																	57946915		1941	4127	6068	SO:0001623	5_prime_UTR_variant	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.-32C>G	19.37:g.57946915C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000334181.4	37	NULL	CCDS33132.2	19																																																																																			ZNF749	-	-		0.692	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	C	NM_001023561		57946915	+1	no_errors	ENST00000597296	ensembl	human	known	70_37	rna	SNP	0.000	G
ZNF833P	401898	genome.wustl.edu	37	19	11762773	11762773	+	lincRNA	SNP	A	A	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:11762773A>C	ENST00000344893.3	+	0	785					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						ACAGGAGAGAAACCCTATGAT	0.443																																																	0																																												401898			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11762773A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPA0	RNA	SNP	-	NULL	ENST00000344893.3	37	NULL		19																																																																																			ZNF833P	-	-		0.443	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	ZNF833P	HGNC	lincRNA	OTTHUMT00000458891.1	A	NM_001013691		11762773	+1	no_errors	ENST00000344893	ensembl	human	known	70_37	rna	SNP	0.800	C
ZNF99	7652	genome.wustl.edu	37	19	22940786	22940786	+	Missense_Mutation	SNP	A	A	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:22940786A>C	ENST00000596209.1	-	4	2015	c.1925T>G	c.(1924-1926)aTt>aGt	p.I642S	ZNF99_ENST00000397104.3_Missense_Mutation_p.I551S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	642					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)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCAGTATGAATTATCTCATG	0.358																																																	0													39.0	41.0	40.0					19																	22940786		2033	4212	6245	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1925T>G	19.37:g.22940786A>C	ENSP00000472969:p.Ile642Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	M0R335	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.I551S	ENST00000596209.1	37	c.1652	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	a	11.94	1.789504	0.31685	.	.	ENSG00000213973	ENST00000397104	T	0.00659	5.94	1.16	-1.84	0.07809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	L	0.31926	0.97	0.28805	N	0.898569	D	0.69078	0.997	D	0.73380	0.98	T	0.48559	-0.9025	9	0.87932	D	0	.	5.7424	0.18102	0.5275:0.0:0.4725:0.0	.	551	A8MXY4	ZNF99_HUMAN	S	551	ENSP00000380293:I551S	ENSP00000380293:I551S	I	-	2	0	ZNF99	22732626	0.000000	0.05858	0.008000	0.14137	0.657000	0.38888	0.123000	0.15708	-0.353000	0.08224	0.163000	0.16589	ATT	ZNF99	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	A	XM_065124		22940786	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.862	C
ZNF99	7652	genome.wustl.edu	37	19	22952025	22952025	+	Missense_Mutation	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:22952025C>G	ENST00000596209.1	-	2	195	c.105G>C	c.(103-105)gaG>gaC	p.E35D	ZNF99_ENST00000397104.3_Missense_Mutation_p.E56D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	35	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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCTGTAGTTCTCTAACATAA	0.383																																																	0													76.0	83.0	81.0					19																	22952025		2202	4300	6502	SO:0001583	missense	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.105G>C	19.37:g.22952025C>G	ENSP00000472969:p.Glu35Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	M0R335	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.E56D	ENST00000596209.1	37	c.168	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	c	10.62	1.400860	0.25291	.	.	ENSG00000213973	ENST00000397104	T	0.03920	3.76	1.05	-0.378	0.12497	Krueppel-associated box (4);	.	.	.	.	T	0.22475	0.0542	M	0.93763	3.455	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.06570	-1.0819	9	0.66056	D	0.02	.	3.6202	0.08093	0.0:0.7003:0.0:0.2997	.	56	A8MXY4	ZNF99_HUMAN	D	56	ENSP00000380293:E56D	ENSP00000380293:E56D	E	-	3	2	ZNF99	22743865	0.506000	0.26139	0.074000	0.20217	0.066000	0.16364	-0.039000	0.12124	-0.331000	0.08501	-0.330000	0.08379	GAG	ZNF99	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22952025	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	missense	SNP	0.081	G
ZNF850	342892	genome.wustl.edu	37	19	37238866	37238866	+	Missense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:37238866G>C	ENST00000591344.1	-	5	3234	c.3076C>G	c.(3076-3078)Caa>Gaa	p.Q1026E	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	1026					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CGTTTATGTTGACTAAGTTGT	0.438																																																	0																																										SO:0001583	missense	342892			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.3076C>G	19.37:g.37238866G>C	ENSP00000464976:p.Gln1026Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		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.Q1026E	ENST00000591344.1	37	c.3076	CCDS59379.1	19																																																																																			ZNF850	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	G	XM_001720258		37238866	-1	no_errors	ENST00000591344	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF841	284371	genome.wustl.edu	37	19	52569558	52569558	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:52569558G>C	ENST00000426391.2	-	5	1780	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.S526*|ZNF841_ENST00000389534.4_Nonsense_Mutation_p.S526*|ZNF841_ENST00000359973.2_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	410					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGTTAGTAATGAGCCCCAATT	0.398																																																	0													98.0	90.0	92.0					19																	52569558		692	1591	2283	SO:0001587	stop_gained	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1229C>G	19.37:g.52569558G>C	ENSP00000415453:p.Ser410*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	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.S526*	ENST00000426391.2	37	c.1577		19	.	.	.	.	.	.	.	.	.	.	G	41	8.864656	0.98982	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	.	.	.	1.85	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.5806	0.17248	0.0:0.0:0.6753:0.3247	.	.	.	.	X	526;410	.	ENSP00000374185:S526X	S	-	2	0	ZNF841	57261370	0.000000	0.05858	0.004000	0.12327	0.806000	0.45545	0.075000	0.14686	1.350000	0.45770	0.313000	0.20887	TCA	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52569558	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	nonsense	SNP	0.001	C
ZNF805	390980	genome.wustl.edu	37	19	57765301	57765301	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:57765301G>A	ENST00000414468.2	+	4	1114	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	ZNF805_ENST00000535550.1_Missense_Mutation_p.E239K|ZNF805_ENST00000354309.4_Missense_Mutation_p.E239K	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GAAGCCCTATGAGTGCAGTGA	0.532																																																	0													57.0	58.0	58.0					19																	57765301		692	1591	2283	SO:0001583	missense	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1114G>A	19.37:g.57765301G>A	ENSP00000412999:p.Glu372Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNM5	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.E372K	ENST00000414468.2	37	c.1114	CCDS46207.1	19	.	.	.	.	.	.	.	.	.	.	G	14.97	2.694187	0.48202	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.19250	2.16;2.16;2.16	3.76	3.76	0.43208	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.561819	0.14875	N	0.293319	T	0.05868	0.0153	N	0.00746	-1.225	0.23366	N	0.997828	P	0.34815	0.47	B	0.34242	0.178	T	0.22800	-1.0206	10	0.09590	T	0.72	.	9.6861	0.40100	0.1041:0.0:0.8959:0.0	.	372	Q5CZA5	ZN805_HUMAN	K	239;372;239	ENSP00000440067:E239K;ENSP00000412999:E372K;ENSP00000365414:E239K	ENSP00000365414:E239K	E	+	1	0	ZNF805	62457113	0.000000	0.05858	0.998000	0.56505	0.992000	0.81027	-0.204000	0.09425	2.394000	0.81467	0.563000	0.77884	GAG	ZNF805	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	G	NM_001023563		57765301	+1	no_errors	ENST00000414468	ensembl	human	known	70_37	missense	SNP	0.914	A
ZNF776	284309	genome.wustl.edu	37	19	58265783	58265783	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58265783G>A	ENST00000317178.5	+	3	1548	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TCACACTGGAGAAAGGCCATA	0.438																																																	0													123.0	117.0	119.0					19																	58265783		2203	4300	6503	SO:0001583	missense	284309			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.1285G>A	19.37:g.58265783G>A	ENSP00000321812:p.Glu429Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZS36|Q8N968	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.E429K	ENST00000317178.5	37	c.1285	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899066	0.72754	.	.	ENSG00000152443	ENST00000317178	T	0.24350	1.86	1.86	-0.643	0.11482	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40815	0.1132	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.72338	0.977;0.749	T	0.24835	-1.0149	9	0.62326	D	0.03	.	6.2281	0.20720	0.2947:0.0:0.7053:0.0	.	429;429	Q68DI1;B4DSC6	ZN776_HUMAN;.	K	429	ENSP00000321812:E429K	ENSP00000321812:E429K	E	+	1	0	ZNF776	62957595	0.152000	0.22762	0.003000	0.11579	0.421000	0.31385	1.751000	0.38339	-0.264000	0.09365	0.313000	0.20887	GAA	ZNF776	-	pfscan_Znf_C2H2		0.438	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	HGNC	protein_coding	OTTHUMT00000346722.2	G	NM_173632		58265783	+1	no_errors	ENST00000317178	ensembl	human	known	70_37	missense	SNP	0.973	A
ZSCAN20	7579	genome.wustl.edu	37	1	33960287	33960287	+	Silent	SNP	C	C	G			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:33960287C>G	ENST00000361328.3	+	8	2496	c.2343C>G	c.(2341-2343)ctC>ctG	p.L781L		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	781					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATTCTAATCTCATCACTCACC	0.438																																																	0													76.0	82.0	80.0					1																	33960287		2112	4256	6368	SO:0001819	synonymous_variant	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2343C>G	1.37:g.33960287C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L781	ENST00000361328.3	37	c.2343	CCDS41300.1	1																																																																																			ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	C	NM_145238		33960287	+1	no_errors	ENST00000326544	ensembl	human	known	70_37	silent	SNP	0.000	G
ZSCAN4	201516	genome.wustl.edu	37	19	58187617	58187617	+	Missense_Mutation	SNP	G	G	A			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr19:58187617G>A	ENST00000318203.5	+	3	801	c.104G>A	c.(103-105)aGa>aAa	p.R35K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	35					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R35I(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTGTTCAGAGAGAAGAAGGG	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)											95.0	92.0	93.0					19																	58187617		2203	4300	6503	SO:0001583	missense	201516			AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.104G>A	19.37:g.58187617G>A	ENSP00000321963:p.Arg35Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIQ2	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.R35K	ENST00000318203.5	37	c.104	CCDS12958.1	19	.	.	.	.	.	.	.	.	.	.	G	0.810	-0.752218	0.03041	.	.	ENSG00000180532	ENST00000318203	T	0.06294	3.32	4.42	-1.87	0.07737	Retrovirus capsid, C-terminal (1);	3.044690	0.00916	N	0.002528	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31166	-0.9953	10	0.07644	T	0.81	1.1869	0.899	0.01269	0.3562:0.1609:0.3112:0.1718	.	35	Q8NAM6	ZSCA4_HUMAN	K	35	ENSP00000321963:R35K	ENSP00000321963:R35K	R	+	2	0	ZSCAN4	62879429	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.179000	0.09768	-0.423000	0.07394	-1.145000	0.01858	AGA	ZSCAN4	-	superfamily_Retrov_capsid_C		0.388	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN4	HGNC	protein_coding	OTTHUMT00000466812.1	G	NM_152677		58187617	+1	no_errors	ENST00000318203	ensembl	human	known	70_37	missense	SNP	0.000	A
ZZZ3	26009	genome.wustl.edu	37	1	78034071	78034071	+	Silent	SNP	C	C	T			TCGA-IR-A3LK-01A-12D-A20U-09	TCGA-IR-A3LK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d8718ef-47d1-47af-9dc9-55dec391d913	6eada57d-b416-4e87-bd23-64a7c4b7da4f	g.chr1:78034071C>T	ENST00000370801.3	-	13	2887	c.2412G>A	c.(2410-2412)caG>caA	p.Q804Q	ZZZ3_ENST00000370798.1_Silent_p.Q310Q|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	804					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTGAAGTTTCTGCTTCTTTA	0.269																																																	0													75.0	81.0	79.0					1																	78034071		2203	4299	6502	SO:0001819	synonymous_variant	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.2412G>A	1.37:g.78034071C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.Q804	ENST00000370801.3	37	c.2412	CCDS677.1	1																																																																																			ZZZ3	-	NULL		0.269	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	C	NM_015534		78034071	-1	no_errors	ENST00000370801	ensembl	human	known	70_37	silent	SNP	1.000	T
